#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
SDF4	51150	broad.mit.edu	37	1	1164118	1164118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:1164118G>A	ENST00000360001.6	-	2	318	c.56C>T	c.(55-57)gCt>gTt	p.A19V	SDF4_ENST00000263741.7_Missense_Mutation_p.A19V|SDF4_ENST00000545427.1_Missense_Mutation_p.A19V|SDF4_ENST00000459994.2_5'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	19					calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)	p.A19V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	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;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCAGCACGGAGCCAGGCCAAT	0.692																																						uc001adh.3		NA																	1	Substitution - Missense(1)	p.A19V(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(55-57)GCT>GTT		stromal cell derived factor 4 isoform 2							43.0	38.0	40.0					1																	1164118		2199	4299	6498	SO:0001583	missense	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding	g.chr1:1164118G>A		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.56C>T	1.37:g.1164118G>A	ENSP00000353094:p.Ala19Val					SDF4_uc001adi.3_Missense_Mutation_p.A19V|SDF4_uc009vjv.2_Intron|SDF4_uc009vjw.2_RNA	p.A19V	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	2	385	-	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)	19					B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	37	c.56C>T	CCDS30553.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276863	0.23307	.	.	ENSG00000078808	ENST00000360001;ENST00000263741;ENST00000545427	T;T;T	0.08807	3.05;3.05;3.05	4.43	2.45	0.29901	.	0.693113	0.12537	N	0.460291	T	0.07908	0.0198	L	0.44542	1.39	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.12156	0.007;0.001	T	0.27502	-1.0072	10	0.45353	T	0.12	-6.6582	6.6927	0.23181	0.1212:0.4213:0.4575:0.0	.	19;19	Q9BRK5-6;Q9BRK5	.;CAB45_HUMAN	V	19	ENSP00000353094:A19V;ENSP00000263741:A19V;ENSP00000444451:A19V	ENSP00000263741:A19V	A	-	2	0	SDF4	1153981	0.018000	0.18449	0.001000	0.08648	0.235000	0.25334	0.684000	0.25364	0.844000	0.35094	0.511000	0.50034	GCT		0.692	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		6	16	0	0	0	0	6	16				
EPHA8	2046	broad.mit.edu	37	1	22902848	22902848	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:22902848G>A	ENST00000166244.3	+	3	370	c.298G>A	c.(298-300)Gag>Aag	p.E100K	EPHA8_ENST00000538803.1_Missense_Mutation_p.E100K|EPHA8_ENST00000374644.4_Missense_Mutation_p.E100K	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	100	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGTCTATGCTGAGATCAAGTT	0.612																																						uc001bfx.1		NA																	0				central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(298-300)GAG>AAG		ephrin receptor EphA8 isoform 1 precursor							60.0	60.0	60.0					1																	22902848		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22902848G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.298G>A	1.37:g.22902848G>A	ENSP00000166244:p.Glu100Lys					EPHA8_uc001bfw.2_Missense_Mutation_p.E100K	p.E100K	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	423	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	100			Extracellular (Potential).		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.298G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356758	0.82243	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.12774	2.65;2.65;2.65	4.29	4.29	0.51040	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	T	0.44095	0.1277	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.994;1.0	T	0.55630	-0.8111	10	0.87932	D	0	.	15.4668	0.75406	0.0:0.0:1.0:0.0	.	100;100	P29322;P29322-2	EPHA8_HUMAN;.	K	100	ENSP00000166244:E100K;ENSP00000363775:E100K;ENSP00000440274:E100K	ENSP00000166244:E100K	E	+	1	0	EPHA8	22775435	1.000000	0.71417	0.968000	0.41197	0.575000	0.36095	9.657000	0.98554	2.212000	0.71576	0.442000	0.29010	GAG		0.612	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		11	54	0	0	0	0	11	54				
COL16A1	1307	broad.mit.edu	37	1	32118423	32118423	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:32118423C>T	ENST00000373672.3	-	71	5160	c.4644G>A	c.(4642-4644)atG>atA	p.M1548I	RP11-73M7.6_ENST00000609373.1_RNA|COL16A1_ENST00000461217.1_5'Flank|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.M1548I|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1548	Collagen-like 8.|Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGTTGCACCCATCTTGCCAT	0.592																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1		NA																	0				ovary(8)	8						c.(4642-4644)ATG>ATA		alpha 1 type XVI collagen precursor							23.0	24.0	24.0					1																	32118423		1927	4132	6059	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32118423C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.4644G>A	1.37:g.32118423C>T	ENSP00000362776:p.Met1548Ile					COL16A1_uc001bti.1_Missense_Mutation_p.M162I|COL16A1_uc001btj.1_Missense_Mutation_p.M1346I	p.M1548I	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	71	5009	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1548			Triple-helical region 1 (COL1) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.4644G>A	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.920988	0.73213	.	.	ENSG00000084636	ENST00000373672;ENST00000271069	D;D	0.94092	-3.35;-3.35	5.51	4.59	0.56863	.	0.231320	0.42682	D	0.000669	D	0.87912	0.6297	N	0.21508	0.67	0.45439	D	0.998419	B;B	0.18610	0.029;0.023	B;B	0.18561	0.022;0.013	D	0.83375	0.0009	10	0.29301	T	0.29	.	15.0383	0.71767	0.1434:0.8566:0.0:0.0	.	1548;1546	Q07092;Q07092-2	COGA1_HUMAN;.	I	1548	ENSP00000362776:M1548I;ENSP00000271069:M1548I	ENSP00000271069:M1548I	M	-	3	0	COL16A1	31891010	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.708000	0.54845	1.468000	0.48064	0.655000	0.94253	ATG		0.592	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		9	25	0	0	0	0	9	25				
ERICH3	127254	broad.mit.edu	37	1	75072310	75072310	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:75072310G>A	ENST00000326665.5	-	10	1682	c.1464C>T	c.(1462-1464)gaC>gaT	p.D488D	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.D291D	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		488	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						TTTCCTGGTCGTCTTCCAAGA	0.358																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1462-1464)GAC>GAT		hypothetical protein LOC127254							182.0	180.0	181.0					1																	75072310		2202	4299	6501	SO:0001819	synonymous_variant	127254							g.chr1:75072310G>A																												ENST00000326665.5:c.1464C>T	1.37:g.75072310G>A						uc001dgh.2_Intron|C1orf173_uc001dgi.3_Silent_p.D282D	p.D488D	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			10	1683	-			488			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.1464C>T	CCDS30755.1																																																																																				0.358	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			70	50	0	0	0	0	70	50				
LRRC8D	55144	broad.mit.edu	37	1	90398915	90398915	+	Silent	SNP	C	C	T	rs367601002		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:90398915C>T	ENST00000337338.5	+	3	695	c.288C>T	c.(286-288)aaC>aaT	p.N96N	LRRC8D_ENST00000394593.3_Silent_p.N96N	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	96					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GGACAACAAACGACATTTCCT	0.498																																						uc001dnm.2		NA																	0				ovary(2)	2						c.(286-288)AAC>AAT		leucine rich repeat containing 8 family, member		C	,	0,4406		0,0,2203	105.0	91.0	96.0		288,288	-6.1	0.0	1		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LRRC8D	NM_001134479.1,NM_018103.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	96/859,96/859	90398915	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55144					integral to membrane	protein binding	g.chr1:90398915C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.288C>T	1.37:g.90398915C>T						LRRC8D_uc001dnn.2_Silent_p.N96N	p.N96N	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	713	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	96					D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	c.288C>T	CCDS726.1																																																																																				0.498	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		31	10	0	0	0	0	31	10				
ABCD3	5825	broad.mit.edu	37	1	94953518	94953518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:94953518G>A	ENST00000370214.4	+	13	1160	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000536817.1_Missense_Mutation_p.R306H|ABCD3_ENST00000454898.2_Missense_Mutation_p.R403H|ABCD3_ENST00000484213.1_3'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	379					ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTGGCTGGGCGTGAAATGACT	0.323																																						uc001dqn.3		NA																	0				skin(1)	1						c.(1135-1137)CGT>CAT		ATP-binding cassette, sub-family D, member 3							89.0	93.0	92.0					1																	94953518		2203	4300	6503	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94953518G>A	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1136G>A	1.37:g.94953518G>A	ENSP00000359233:p.Arg379His					ABCD3_uc010oto.1_Missense_Mutation_p.R403H|ABCD3_uc010otp.1_Missense_Mutation_p.R306H|ABCD3_uc009wdr.2_Intron|ABCD3_uc001dqo.3_Missense_Mutation_p.R67H	p.R379H	NM_002858	NP_002849	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	13	1238	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	379					D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.1136G>A	CCDS749.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906859	0.92107	.	.	ENSG00000117528	ENST00000454898;ENST00000536817;ENST00000370214	D;D;D	0.99158	-5.5;-5.5;-5.5	5.64	4.73	0.59995	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.98802	1.0740	10	0.87932	D	0	-11.9119	14.2967	0.66318	0.0711:0.0:0.9289:0.0	.	403;379	E7EUE1;P28288	.;ABCD3_HUMAN	H	403;306;379	ENSP00000403357:R403H;ENSP00000440692:R306H;ENSP00000359233:R379H	ENSP00000359233:R379H	R	+	2	0	ABCD3	94726106	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.476000	0.97823	1.391000	0.46566	0.591000	0.81541	CGT		0.323	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		17	72	0	0	0	0	17	72				
ZNF687	57592	broad.mit.edu	37	1	151260525	151260525	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:151260525G>A	ENST00000368879.2	+	2	1856	c.1758G>A	c.(1756-1758)aaG>aaA	p.K586K		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	586					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	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)			GTGAACACAAGGACAAGGGGC	0.607																																						uc001exq.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1756-1758)AAG>AAA		zinc finger protein 687							80.0	72.0	75.0					1																	151260525		2203	4300	6503	SO:0001819	synonymous_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151260525G>A		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1758G>A	1.37:g.151260525G>A						ZNF687_uc001exp.1_Silent_p.K595K|ZNF687_uc009wmo.2_Silent_p.K586K|ZNF687_uc009wmp.2_Silent_p.K586K	p.K586K	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1856	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		586					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Silent	SNP	ENST00000368879.2	37	c.1758G>A		.	.	.	.	.	.	.	.	.	.	G	4.946	0.175691	0.09391	.	.	ENSG00000143373	ENST00000426871	.	.	.	5.12	3.18	0.36537	.	.	.	.	.	T	0.46870	0.1415	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45116	-0.9283	4	.	.	.	-20.1274	9.5876	0.39526	0.2315:0.0:0.7685:0.0	.	.	.	.	K	189	.	.	R	+	2	0	ZNF687	149527149	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.596000	0.67570	1.352000	0.45808	0.561000	0.74099	AGG		0.607	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		13	53	0	0	0	0	13	53				
ACKR1	2532	broad.mit.edu	37	1	159175312	159175312	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:159175312C>T	ENST00000368122.2	+	2	762	c.83C>T	c.(82-84)tCt>tTt	p.S28F	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_Missense_Mutation_p.S28F|DARC_ENST00000368121.2_Missense_Mutation_p.S30F	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		28					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)					GTATGGAATTCTTCCTATGGT	0.537																																						uc001fto.2		NA																	0				ovary(1)|lung(1)	2						c.(82-84)TCT>TTT		Duffy blood group antigen isoform b							92.0	89.0	90.0					1																	159175312		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175312C>T																												ENST00000368122.2:c.83C>T	1.37:g.159175312C>T	ENSP00000357104:p.Ser28Phe					DARC_uc001ftp.3_Missense_Mutation_p.S30F	p.S28F	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	323	+	all_hematologic(112;0.0429)		28			Extracellular (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.83C>T	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	C	1.706	-0.500234	0.04291	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000435307;ENST00000368121	T;T;T;T	0.24151	4.38;4.38;1.87;4.36	3.93	-7.86	0.01187	.	.	.	.	.	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38329	-0.9666	9	0.10111	T	0.7	-8.5143	0.9777	0.01429	0.4154:0.2011:0.0952:0.2883	.	30;28	Q5Y7A1;Q16570	.;DUFFY_HUMAN	F	28;28;28;30;30	ENSP00000357104:S28F;ENSP00000441985:S28F;ENSP00000398406:S30F;ENSP00000357103:S30F	ENSP00000352341:S28F	S	+	2	0	DARC	157441936	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.688000	0.01925	-1.448000	0.01941	-1.838000	0.00587	TCT		0.537	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			11	54	0	0	0	0	11	54				
NLRP3	114548	broad.mit.edu	37	1	247597516	247597516	+	Silent	SNP	C	C	T	rs143175395	byFrequency	TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:247597516C>T	ENST00000336119.3	+	5	3185	c.2439C>T	c.(2437-2439)ttC>ttT	p.F813F	NLRP3_ENST00000391828.3_Silent_p.F813F|NLRP3_ENST00000366496.2_Silent_p.F813F|NLRP3_ENST00000391827.2_Silent_p.F756F|NLRP3_ENST00000348069.2_Silent_p.F756F|NLRP3_ENST00000366497.2_Silent_p.F813F	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	813					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCGGTGACTTCGGAATCAGAC	0.567													C|||	2	0.000399361	0.0	0.0	5008	,	,		19684	0.001		0.0	False		,,,				2504	0.001					uc001icr.2		NA																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2437-2439)TTC>TTT		NLR family, pyrin domain containing 3 isoform a		C	,,,,	0,4406		0,0,2203	144.0	128.0	133.0		2439,2439,2268,2439,2268	-6.4	0.2	1	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP3	NM_001079821.2,NM_001127461.2,NM_001127462.2,NM_004895.4,NM_183395.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	813/1037,813/980,756/980,813/1037,756/923	247597516	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247597516C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2439C>T	1.37:g.247597516C>T						NLRP3_uc001ics.2_Silent_p.F813F|NLRP3_uc001icu.2_Silent_p.F813F|NLRP3_uc001icw.2_Silent_p.F756F|NLRP3_uc001icv.2_Silent_p.F756F|NLRP3_uc010pyw.1_Silent_p.F791F	p.F813F	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		7	2577	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	813			LRR 3.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.2439C>T	CCDS1632.1																																																																																				0.567	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		60	32	0	0	0	0	60	32				
SFMBT2	57713	broad.mit.edu	37	10	7205769	7205769	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:7205769C>G	ENST00000361972.4	-	21	2738	c.2648G>C	c.(2647-2649)aGa>aCa	p.R883T	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R883T	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	883	SAM.				negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.R883T(1)		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						CACTTTGACTCTCTCGATCTG	0.567																																						uc009xio.1		NA																	1	Substitution - Missense(1)	p.R883T(1)	upper_aerodigestive_tract(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(2647-2649)AGA>ACA		Scm-like with four mbt domains 2							109.0	91.0	97.0					10																	7205769		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7205769C>G	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.2648G>C	10.37:g.7205769C>G	ENSP00000355109:p.Arg883Thr					SFMBT2_uc001ijn.1_Missense_Mutation_p.R883T|SFMBT2_uc010qay.1_Missense_Mutation_p.R718T	p.R883T	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			21	2739	-			883			SAM.		A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2648G>C	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810416	0.90707	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.49432	0.78;0.78	5.61	5.61	0.85477	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.67344	0.2883	L	0.56396	1.775	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.68288	-0.5448	10	0.72032	D	0.01	.	19.6373	0.95740	0.0:1.0:0.0:0.0	.	883	Q5VUG0	SMBT2_HUMAN	T	883	ENSP00000355109:R883T;ENSP00000380353:R883T	ENSP00000355109:R883T	R	-	2	0	SFMBT2	7245775	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.988000	0.70579	2.636000	0.89361	0.655000	0.94253	AGA		0.567	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		8	23	0	0	0	0	8	23				
CELF2	10659	broad.mit.edu	37	10	11308601	11308601	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:11308601G>A	ENST00000379261.4	+	6	650	c.558G>A	c.(556-558)caG>caA	p.Q186Q	CELF2_ENST00000450189.1_Silent_p.Q193Q|CELF2_ENST00000354897.3_Silent_p.Q162Q|CELF2_ENST00000427450.1_Silent_p.Q162Q|CELF2_ENST00000542579.1_Silent_p.Q193Q|CELF2_ENST00000315874.4_Silent_p.Q162Q|CELF2_ENST00000609692.1_Silent_p.Q162Q|CELF2_ENST00000537122.1_Silent_p.Q75Q|CELF2_ENST00000608830.1_Silent_p.Q162Q|CELF2_ENST00000417956.2_Silent_p.Q162Q|CELF2_ENST00000416382.2_Silent_p.Q186Q|CELF2_ENST00000354440.2_Silent_p.Q162Q|CELF2_ENST00000399850.3_Silent_p.Q162Q	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	186	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CAATGGCACAGAATGCAATCA	0.448																																						uc001iki.3		NA																	0					0						c.(556-558)CAG>CAA		CUG triplet repeat, RNA binding protein 2							190.0	175.0	180.0					10																	11308601		1986	4172	6158	SO:0001819	synonymous_variant	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11308601G>A	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.558G>A	10.37:g.11308601G>A						CELF2_uc010qbi.1_Intron|CELF2_uc010qbj.1_Silent_p.Q186Q|CELF2_uc001ikk.2_Silent_p.Q193Q|CELF2_uc001ikl.3_Silent_p.Q193Q|CELF2_uc010qbk.1_Intron|CELF2_uc010qbl.1_Silent_p.Q162Q|CELF2_uc010qbm.1_Intron|CELF2_uc001iko.3_Silent_p.Q162Q|CELF2_uc001ikp.3_Silent_p.Q162Q|CELF2_uc010qbn.1_Silent_p.Q170Q|CELF2_uc010qbo.1_Silent_p.Q75Q|CELF2_uc010qbp.1_Intron	p.Q186Q	NM_001025077	NP_001020248	O95319	CELF2_HUMAN			6	650	+			186			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	ENST00000379261.4	37	c.558G>A	CCDS44354.1																																																																																				0.448	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				11	20	0	0	0	0	11	20				
CUBN	8029	broad.mit.edu	37	10	16962010	16962010	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:16962010C>T	ENST00000377833.4	-	44	6838	c.6773G>A	c.(6772-6774)cGc>cAc	p.R2258H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2258	CUB 16. {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)	p.R2258H(1)		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)	CAGCTGTATGCGTGTTTCCGG	0.438																																						uc001ioo.2		NA																	1	Substitution - Missense(1)	p.R2258H(1)	upper_aerodigestive_tract(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(6772-6774)CGC>CAC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						73.0	65.0	68.0					10																	16962010		2203	4300	6503	SO:0001583	missense	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.chr10:16962010C>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.6773G>A	10.37:g.16962010C>T	ENSP00000367064:p.Arg2258His						p.R2258H	NM_001081	NP_001072	O60494	CUBN_HUMAN			44	6825	-			2258			CUB 16.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.6773G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452173	0.26074	.	.	ENSG00000107611	ENST00000377833	T	0.18502	2.21	5.11	-1.88	0.07713	CUB (5);	1.340940	0.05323	N	0.526859	T	0.19167	0.0460	L	0.42686	1.345	0.09310	N	1	D	0.61080	0.989	P	0.48677	0.586	T	0.37197	-0.9716	10	0.32370	T	0.25	.	7.8233	0.29300	0.5565:0.1501:0.2934:0.0	.	2258	O60494	CUBN_HUMAN	H	2258	ENSP00000367064:R2258H	ENSP00000367064:R2258H	R	-	2	0	CUBN	17002016	0.018000	0.18449	0.000000	0.03702	0.007000	0.05969	0.686000	0.25392	-0.185000	0.10550	0.471000	0.43371	CGC		0.438	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		8	26	0	0	0	0	8	26				
ZNF488	118738	broad.mit.edu	37	10	48370659	48370659	+	Missense_Mutation	SNP	C	C	T	rs149252316	byFrequency	TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:48370659C>T	ENST00000395702.2	+	2	354	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ZNF488_ENST00000586537.1_5'UTR|ZNF488_ENST00000494156.1_Missense_Mutation_p.R43W			Q96MN9	ZN488_HUMAN	zinc finger protein 488	43					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TGAGCTGGGCCGGGGCTGCAA	0.677																																						uc001jex.2		NA																	0				ovary(1)	1						c.(127-129)CGG>TGG		zinc finger protein 488		C	TRP/ARG	1,4401		0,1,2200	42.0	52.0	49.0		127	-4.4	0.0	10	dbSNP_134	49	0,8594		0,0,4297	no	missense	ZNF488	NM_153034.2	101	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	43/341	48370659	1,12995	2201	4297	6498	SO:0001583	missense	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48370659C>T	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.127C>T	10.37:g.48370659C>T	ENSP00000379054:p.Arg43Trp					ZNF488_uc001jey.2_5'UTR	p.R43W	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN			2	289	+			43					Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	c.127C>T	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617398	0.66672	2.27E-4	0.0	ENSG00000165388	ENST00000395702;ENST00000433077;ENST00000442001;ENST00000436850;ENST00000412534;ENST00000444585;ENST00000425196	T;T;T;T;T;T	0.50548	1.77;0.74;0.81;0.81;1.25;1.27	4.9	-4.37	0.03633	.	0.492704	0.20096	U	0.099333	T	0.22859	0.0552	L	0.27053	0.805	0.19775	N	0.999958	B	0.18610	0.029	B	0.08055	0.003	T	0.04607	-1.0939	10	0.44086	T	0.13	.	1.2251	0.01932	0.4362:0.2319:0.1066:0.2253	.	43	Q96MN9	ZN488_HUMAN	W	43	ENSP00000379054:R43W;ENSP00000401469:R43W;ENSP00000415923:R43W;ENSP00000406508:R43W;ENSP00000410326:R43W;ENSP00000412898:R43W	ENSP00000379054:R43W	R	+	1	2	ZNF488	47990665	0.000000	0.05858	0.000000	0.03702	0.361000	0.29550	-0.599000	0.05700	-0.888000	0.03956	0.561000	0.74099	CGG		0.677	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		13	64	0	0	0	0	13	64				
PCDH15	65217	broad.mit.edu	37	10	55582486	55582486	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:55582486G>T	ENST00000320301.6	-	33	5394	c.5000C>A	c.(4999-5001)cCt>cAt	p.P1667H	PCDH15_ENST00000437009.1_Missense_Mutation_p.P1598H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1644H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1627H|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1669H|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1664H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1667					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.P1674H(1)|p.P1667H(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAGAAGTGAGGCCTGGGAAA	0.418										HNSCC(58;0.16)																												uc001jju.1		NA																	2	Substitution - Missense(2)	p.P1674H(1)|p.P1667H(1)	upper_aerodigestive_tract(2)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4999-5001)CCT>CAT		protocadherin 15 isoform CD1-4 precursor							147.0	145.0	146.0					10																	55582486		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582486G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5000C>A	10.37:g.55582486G>T	ENSP00000322604:p.Pro1667His	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1664H|PCDH15_uc010qhw.1_Missense_Mutation_p.P1627H|PCDH15_uc010qhx.1_Missense_Mutation_p.P1598H|PCDH15_uc010qhy.1_Missense_Mutation_p.P1674H|PCDH15_uc010qhz.1_Missense_Mutation_p.P1669H|PCDH15_uc010qia.1_Missense_Mutation_p.P1647H|PCDH15_uc010qib.1_Missense_Mutation_p.P1644H	p.P1667H	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5395	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1667			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.5000C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.465090	0.26335	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.57436	0.44;0.41;0.46;0.41;0.41;0.4	4.85	1.4	0.22301	.	.	.	.	.	T	0.34193	0.0889	N	0.14661	0.345	0.09310	N	1	P;P;P;P;P;P;P;P	0.50819	0.829;0.829;0.829;0.829;0.939;0.829;0.892;0.829	B;B;B;B;P;B;P;B	0.46510	0.401;0.308;0.308;0.401;0.519;0.308;0.45;0.308	T	0.19386	-1.0307	9	0.62326	D	0.03	.	1.6461	0.02762	0.1816:0.1822:0.4185:0.2176	.	1644;1667;1669;1674;1598;1627;1664;1667	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	H	1627;1669;1644;1667;1664;1674;1598	ENSP00000378820:P1627H;ENSP00000354950:P1669H;ENSP00000378821:P1644H;ENSP00000322604:P1667H;ENSP00000378818:P1664H;ENSP00000412628:P1598H	ENSP00000322604:P1667H	P	-	2	0	PCDH15	55252492	0.880000	0.30214	0.958000	0.39756	0.229000	0.25112	0.820000	0.27323	0.957000	0.37930	0.655000	0.94253	CCT		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		37	38	1	0	7.83e-31	9.33e-31	37	38				
RHOBTB1	9886	broad.mit.edu	37	10	62632017	62632017	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:62632017C>T	ENST00000337910.5	-	10	2184	c.1847G>A	c.(1846-1848)tGt>tAt	p.C616Y	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.C616Y	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	616					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GTGGTGCAAACACCAGGCGGC	0.468																																						uc001jli.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1846-1848)TGT>TAT		Rho-related BTB domain containing 1							149.0	141.0	144.0					10																	62632017		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62632017C>T	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1847G>A	10.37:g.62632017C>T	ENSP00000338671:p.Cys616Tyr					RHOBTB1_uc001jlh.2_Missense_Mutation_p.C616Y|RHOBTB1_uc001jlj.2_Missense_Mutation_p.C616Y|RHOBTB1_uc001jlk.2_Missense_Mutation_p.C616Y|RHOBTB1_uc009xpe.1_Missense_Mutation_p.C554Y|RHOBTB1_uc009xpd.2_Intron|RHOBTB1_uc001jll.2_Missense_Mutation_p.C366Y	p.C616Y	NM_014836	NP_055651	O94844	RHBT1_HUMAN			11	2285	-	Prostate(12;0.0112)		616						Missense_Mutation	SNP	ENST00000337910.5	37	c.1847G>A	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462571	0.84425	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.27720	1.65;1.65	5.6	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69072	-0.5242	10	0.87932	D	0	.	14.8908	0.70606	0.0:0.9298:0.0:0.0702	.	616	O94844	RHBT1_HUMAN	Y	616	ENSP00000350595:C616Y;ENSP00000338671:C616Y	ENSP00000338671:C616Y	C	-	2	0	RHOBTB1	62302023	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.814000	0.86154	2.640000	0.89533	0.561000	0.74099	TGT		0.468	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			11	53	0	0	0	0	11	53				
CYP2C19	1557	broad.mit.edu	37	10	96580294	96580294	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:96580294G>T	ENST00000371321.3	+	6	943	c.861G>T	c.(859-861)ttG>ttT	p.L287F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	287					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTGAAAACTTGGTAATCACTG	0.413																																						uc010qnz.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(859-861)TTG>TTT		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						152.0	141.0	145.0					10																	96580294		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96580294G>T	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.861G>T	10.37:g.96580294G>T	ENSP00000360372:p.Leu287Phe					CYP2C19_uc010qny.1_Missense_Mutation_p.L265F	p.L287F	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	6	861	+		Colorectal(252;0.09)	287					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.861G>T	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162217	0.38217	.	.	ENSG00000165841	ENST00000371321	T	0.73363	-0.74	3.79	1.8	0.24995	.	0.110656	0.38217	U	0.001768	T	0.82102	0.4964	M	0.90145	3.09	0.09310	N	1	D	0.63880	0.993	P	0.55222	0.771	T	0.73251	-0.4042	10	0.87932	D	0	.	6.669	0.23058	0.2407:0.0:0.7593:0.0	.	287	P33261	CP2CJ_HUMAN	F	287	ENSP00000360372:L287F	ENSP00000360372:L287F	L	+	3	2	CYP2C19	96570284	0.862000	0.29867	0.006000	0.13384	0.063000	0.16089	1.668000	0.37481	0.760000	0.33108	0.400000	0.26472	TTG		0.413	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		12	56	1	0	6.4e-05	6.93e-05	12	56				
FGFR2	2263	broad.mit.edu	37	10	123274743	123274743	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr10:123274743A>G	ENST00000358487.5	-	9	1447	c.1175T>C	c.(1174-1176)gTg>gCg	p.V392A	FGFR2_ENST00000357555.5_Missense_Mutation_p.V303A|FGFR2_ENST00000346997.2_Missense_Mutation_p.V392A|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000478859.1_Missense_Mutation_p.V164A|FGFR2_ENST00000369056.1_Missense_Mutation_p.V393A|FGFR2_ENST00000490349.1_5'Flank|FGFR2_ENST00000457416.2_Missense_Mutation_p.V393A|FGFR2_ENST00000369061.4_Missense_Mutation_p.V280A|FGFR2_ENST00000369059.1_Missense_Mutation_p.V278A|FGFR2_ENST00000356226.4_Missense_Mutation_p.V277A|FGFR2_ENST00000360144.3_Missense_Mutation_p.V304A|FGFR2_ENST00000351936.6_Missense_Mutation_p.V392A	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	392					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.V392A(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GACTGTTACCACCATACAGGC	0.522		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													uc010qtk.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	Crouzon|Pfeiffer|and Apert syndromes	E			gastric. NSCLC|endometrial		1	Substitution - Missense(1)	p.V392A(1)	upper_aerodigestive_tract(1)	endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96						c.(1174-1176)GTG>GCG		fibroblast growth factor receptor 2 isoform 1	Palifermin(DB00039)						122.0	125.0	124.0					10																	123274743		2203	4300	6503	SO:0001583	missense	2263	Apert_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123274743A>G	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1175T>C	10.37:g.123274743A>G	ENSP00000351276:p.Val392Ala					FGFR2_uc010qtg.1_Missense_Mutation_p.V280A|FGFR2_uc010qth.1_Missense_Mutation_p.V277A|FGFR2_uc010qti.1_Missense_Mutation_p.V303A|FGFR2_uc010qtj.1_Missense_Mutation_p.V393A|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.V277A|FGFR2_uc001lfl.3_Missense_Mutation_p.V393A|FGFR2_uc001lfm.2_Missense_Mutation_p.V304A|FGFR2_uc001lfn.3_RNA|FGFR2_uc001lfg.3_Missense_Mutation_p.V2A	p.V392A	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	9	1822	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	392			Helical; (Potential).		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.1175T>C	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750474	0.69533	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.83	5.83	0.93111	.	0.055021	0.64402	D	0.000001	D	0.89061	0.6608	M	0.70275	2.135	0.80722	D	1	B;P;B;P;B;B;B;P	0.42248	0.006;0.57;0.105;0.624;0.003;0.427;0.251;0.774	B;P;B;B;B;P;B;B	0.44946	0.016;0.465;0.059;0.253;0.01;0.46;0.099;0.196	D	0.89906	0.4048	10	0.62326	D	0.03	.	16.2041	0.82108	1.0:0.0:0.0:0.0	.	411;393;303;277;392;304;393;297	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	A	303;395;280;392;277;278;392;393;392;304;393;393;303	ENSP00000350166:V303A;ENSP00000358057:V280A;ENSP00000351276:V392A;ENSP00000348559:V277A;ENSP00000358055:V278A;ENSP00000263451:V392A;ENSP00000410294:V393A;ENSP00000309878:V392A;ENSP00000353262:V304A;ENSP00000358052:V393A;ENSP00000358054:V393A;ENSP00000337665:V303A	ENSP00000337665:V303A	V	-	2	0	FGFR2	123264733	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.248000	0.95456	2.219000	0.72066	0.533000	0.62120	GTG		0.522	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		29	37	0	0	0	0	29	37				
DCHS1	8642	broad.mit.edu	37	11	6648366	6648366	+	Silent	SNP	A	A	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr11:6648366A>G	ENST00000299441.3	-	14	6315	c.5904T>C	c.(5902-5904)cgT>cgC	p.R1968R		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1968	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCGGGGCAGACGTAGGCGCA	0.612																																						uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(5902-5904)CGT>CGC		dachsous 1 precursor							71.0	67.0	68.0					11																	6648366		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6648366A>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5904T>C	11.37:g.6648366A>G							p.R1968R	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	14	6314	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1968			Cadherin 19.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000299441.3	37	c.5904T>C	CCDS7771.1																																																																																				0.612	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		23	53	0	0	0	0	23	53				
CPT1A	1374	broad.mit.edu	37	11	68566776	68566776	+	Silent	SNP	C	C	T	rs2228504		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr11:68566776C>T	ENST00000265641.5	-	6	757	c.603G>A	c.(601-603)cgG>cgA	p.R201R	CPT1A_ENST00000539743.1_Silent_p.R201R|CPT1A_ENST00000538994.1_5'Flank|CPT1A_ENST00000540367.1_Silent_p.R201R|CPT1A_ENST00000376618.2_Silent_p.R201R	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	201					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GTGCTGTCATCCGTTTGAAGT	0.393																																						uc001oog.3		NA																	0				skin(2)	2						c.(601-603)CGG>CGA		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						104.0	100.0	101.0					11																	68566776		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68566776C>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.603G>A	11.37:g.68566776C>T						CPT1A_uc001oof.3_Silent_p.R201R|CPT1A_uc009ysj.2_Silent_p.R201R	p.R201R	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		6	773	-	Esophageal squamous(3;3.28e-14)		201			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.603G>A	CCDS8185.1																																																																																				0.393	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		86	137	0	0	0	0	86	137				
ATN1	1822	broad.mit.edu	37	12	7046142	7046142	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr12:7046142C>A	ENST00000356654.4	+	5	1949	c.1712C>A	c.(1711-1713)tCt>tAt	p.S571Y	ATN1_ENST00000396684.2_Missense_Mutation_p.S571Y	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	571	Poly-Ser.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTCTCTTCCTCTTCCAACTCT	0.632																																						uc001qrw.1		NA																	0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1711-1713)TCT>TAT		atrophin-1							152.0	128.0	136.0					12																	7046142		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7046142C>A	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1712C>A	12.37:g.7046142C>A	ENSP00000349076:p.Ser571Tyr					ATN1_uc001qrx.1_Missense_Mutation_p.S571Y	p.S571Y	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			5	1949	+			571			Poly-Ser.		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.1712C>A	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.174670	0.00312	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.57752	0.38;0.38;0.38	3.49	2.6	0.31112	.	0.000000	0.31507	U	0.007532	T	0.43077	0.1231	L	0.43152	1.355	0.40520	D	0.980826	P	0.40970	0.734	B	0.38378	0.272	T	0.45920	-0.9228	10	0.56958	D	0.05	.	11.2896	0.49241	0.0:0.9088:0.0:0.0912	.	571	P54259	ATN1_HUMAN	Y	571;571;571;156	ENSP00000349076:S571Y;ENSP00000379915:S571Y;ENSP00000441744:S571Y	ENSP00000229279:S156Y	S	+	2	0	ATN1	6916403	0.000000	0.05858	0.987000	0.45799	0.159000	0.22180	0.872000	0.28037	0.824000	0.34613	-0.195000	0.12781	TCT		0.632	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		15	80	1	0	1.15e-07	1.3e-07	15	80				
GYS2	2998	broad.mit.edu	37	12	21692267	21692267	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr12:21692267G>A	ENST00000261195.2	-	15	2069	c.1815C>T	c.(1813-1815)taC>taT	p.Y605Y		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	605					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGGCATGCTGGTAATACTATT	0.328																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.2		NA																	0				lung(1)|skin(1)	2						c.(1813-1815)TAC>TAT		glycogen synthase 2							146.0	153.0	151.0					12																	21692267		2203	4300	6503	SO:0001819	synonymous_variant	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21692267G>A		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1815C>T	12.37:g.21692267G>A							p.Y605Y	NM_021957	NP_068776	P54840	GYS2_HUMAN			15	2070	-			605					A0AVD8	Silent	SNP	ENST00000261195.2	37	c.1815C>T	CCDS8690.1																																																																																				0.328	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		49	94	0	0	0	0	49	94				
OSBPL8	114882	broad.mit.edu	37	12	76767187	76767187	+	Silent	SNP	A	A	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr12:76767187A>G	ENST00000261183.3	-	18	2333	c.1854T>C	c.(1852-1854)gtT>gtC	p.V618V	OSBPL8_ENST00000393250.4_Silent_p.V576V|OSBPL8_ENST00000393249.2_Silent_p.V576V	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	618					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ATATTTGATTAACACAGTCAC	0.294																																						uc001sye.1		NA																	0				ovary(1)	1						c.(1852-1854)GTT>GTC		oxysterol-binding protein-like protein 8 isoform							96.0	95.0	95.0					12																	76767187		2203	4297	6500	SO:0001819	synonymous_variant	114882				lipid transport		lipid binding	g.chr12:76767187A>G	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1854T>C	12.37:g.76767187A>G						OSBPL8_uc001syf.1_Silent_p.V576V|OSBPL8_uc001syg.1_Silent_p.V576V|OSBPL8_uc001syh.1_Silent_p.V593V	p.V618V	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN			18	2334	-			618					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Silent	SNP	ENST00000261183.3	37	c.1854T>C	CCDS31862.1																																																																																				0.294	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		3	65	0	0	0	0	3	65				
ZC3H13	23091	broad.mit.edu	37	13	46543408	46543408	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr13:46543408C>T	ENST00000242848.4	-	14	3619	c.3271G>A	c.(3271-3273)Ggt>Agt	p.G1091S	ZC3H13_ENST00000282007.3_Missense_Mutation_p.G1091S|ZC3H13_ENST00000378921.2_Missense_Mutation_p.G47S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1091							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|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;4.18e-05)		GGGGTACTACCAGGAGTCGTG	0.532																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NA																	0				ovary(1)|lung(1)	2						c.(3271-3273)GGT>AGT		zinc finger CCCH-type containing 13							125.0	100.0	109.0					13																	46543408		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46543408C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3271G>A	13.37:g.46543408C>T	ENSP00000242848:p.Gly1091Ser					ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.G1091S|ZC3H13_uc001vat.1_Missense_Mutation_p.G1091S	p.G1091S	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	13	3277	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1091					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.3271G>A		.	.	.	.	.	.	.	.	.	.	C	3.751	-0.051553	0.07362	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.48201	2.53;0.82;1.53	4.3	3.45	0.39498	.	0.447640	0.19197	N	0.120291	T	0.30727	0.0774	L	0.27053	0.805	0.20703	N	0.999864	B;B	0.18741	0.018;0.03	B;B	0.24701	0.025;0.055	T	0.18871	-1.0323	10	0.11485	T	0.65	.	8.615	0.33826	0.0:0.8959:0.0:0.1041	.	1091;1091	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	S	1091;47;1091	ENSP00000242848:G1091S;ENSP00000368201:G47S;ENSP00000282007:G1091S	ENSP00000242848:G1091S	G	-	1	0	ZC3H13	45441409	0.944000	0.32072	0.067000	0.19924	0.118000	0.20060	1.735000	0.38176	1.394000	0.46624	0.561000	0.74099	GGT		0.532	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		11	40	0	0	0	0	11	40				
SUCLA2	8803	broad.mit.edu	37	13	48528631	48528631	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr13:48528631G>C	ENST00000378654.3	-	7	920	c.864C>G	c.(862-864)atC>atG	p.I288M	SUCLA2_ENST00000544100.1_Missense_Mutation_p.I154M|SUCLA2_ENST00000534875.1_Missense_Mutation_p.I230M|SUCLA2_ENST00000543413.1_Missense_Mutation_p.I230M	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	288	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	GTAGATCAAAGATTTTCTTTT	0.393																																						uc001vbs.2		NA																	0				central_nervous_system(1)	1						c.(862-864)ATC>ATG		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						77.0	77.0	77.0					13																	48528631		2203	4299	6502	SO:0001583	missense	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48528631G>C	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.864C>G	13.37:g.48528631G>C	ENSP00000367923:p.Ile288Met					SUCLA2_uc010tgb.1_Missense_Mutation_p.I228M|SUCLA2_uc010tgc.1_Missense_Mutation_p.I154M|SUCLA2_uc010tgd.1_Missense_Mutation_p.I228M|SUCLA2_uc001vbt.1_RNA	p.I288M	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	7	921	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	288			ATP-grasp.		B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Missense_Mutation	SNP	ENST00000378654.3	37	c.864C>G	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	g	16.16	3.043268	0.55003	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000331052;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732;ENST00000434484;ENST00000433022	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.67	3.94	0.45596	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);	0.050830	0.85682	D	0.000000	T	0.75932	0.3917	M	0.75150	2.29	0.42527	D	0.993024	P	0.47962	0.903	P	0.52672	0.706	T	0.76634	-0.2887	10	0.87932	D	0	-1.8977	7.3829	0.26866	0.1473:0.1378:0.7149:0.0	.	288	Q9P2R7	SUCB1_HUMAN	M	288;266;218;140;154;230;230;116;218;140	ENSP00000367923:I288M;ENSP00000443412:I154M;ENSP00000438182:I230M;ENSP00000441056:I230M;ENSP00000392771:I218M;ENSP00000415091:I140M	ENSP00000367898:I140M	I	-	3	3	SUCLA2	47426632	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.260000	0.51523	0.864000	0.35578	-0.142000	0.14014	ATC		0.393	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1			13	42	0	0	0	0	13	42				
SLITRK1	114798	broad.mit.edu	37	13	84453707	84453707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr13:84453707G>A	ENST00000377084.2	-	1	2821	c.1936C>T	c.(1936-1938)Cga>Tga	p.R646*		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	646					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.R646*(1)|p.R646R(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GACCGCTTTCGGTTCCTCAGG	0.562																																						uc001vlk.2		NA																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	p.R646*(1)	upper_aerodigestive_tract(1)|lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1936-1938)CGA>TGA		slit and trk like 1 protein precursor							80.0	67.0	71.0					13																	84453707		2203	4300	6503	SO:0001587	stop_gained	114798					integral to membrane		g.chr13:84453707G>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1936C>T	13.37:g.84453707G>A	ENSP00000366288:p.Arg646*						p.R646*	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2822	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	646			Cytoplasmic (Potential).		Q5U5I6|Q96SF9	Nonsense_Mutation	SNP	ENST00000377084.2	37	c.1936C>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	46	12.218044	0.99647	.	.	ENSG00000178235	ENST00000377084	.	.	.	5.51	3.73	0.42828	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.769	13.1395	0.59426	0.0:0.0:0.4413:0.5586	.	.	.	.	X	646	.	ENSP00000366288:R646X	R	-	1	2	SLITRK1	83351708	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.465000	0.53064	0.759000	0.33084	-0.181000	0.13052	CGA		0.562	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		10	15	0	0	0	0	10	15				
RNASE12	493901	broad.mit.edu	37	14	21058491	21058491	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr14:21058491A>T	ENST00000556526.1	-	1	491	c.392T>A	c.(391-393)cTt>cAt	p.L131H	RP11-14J7.6_ENST00000554006.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|RNASE11_ENST00000432835.2_5'Flank|RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RNASE11_ENST00000610205.1_5'Flank|RNASE11_ENST00000555283.1_Intron|RP11-14J7.6_ENST00000554993.1_RNA|RNASE11_ENST00000398009.2_5'Flank|RNASE11_ENST00000553849.1_5'Flank|RNASE11_ENST00000555841.1_5'Flank|RNASE11_ENST00000398008.2_5'Flank	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	131						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.L131H(1)		kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		ACAAGTGACAAGAACAAACCC	0.463																																						uc001vxt.2		NA																	1	Substitution - Missense(1)	p.L131H(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(391-393)CTT>CAT		ribonuclease, RNase A family, 12 (non-active)							78.0	78.0	78.0					14																	21058491		2203	4300	6503	SO:0001583	missense	493901					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21058491A>T		CCDS32037.1	14q11.1	2012-10-05			ENSG00000258436	ENSG00000258436		"""Ribonucleases, RNase A"""	24211	protein-coding gene	gene with protein product							Standard	NM_001024822		Approved		uc001vxt.3	Q5GAN4	OTTHUMG00000170991	ENST00000556526.1:c.392T>A	14.37:g.21058491A>T	ENSP00000450580:p.Leu131His					RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_5'Flank	p.L131H	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)	1	492	-	all_cancers(95;0.00238)		131						Missense_Mutation	SNP	ENST00000556526.1	37	c.392T>A	CCDS32037.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629425	0.46944	.	.	ENSG00000258436;ENSG00000206171	ENST00000556526;ENST00000382999	T;T	0.74421	-0.84;-0.84	4.91	2.52	0.30459	Ribonuclease A, domain (3);	1.272150	0.05270	N	0.517398	T	0.81034	0.4739	M	0.63843	1.955	0.09310	N	1	D	0.61080	0.989	P	0.59948	0.866	T	0.60089	-0.7331	10	0.87932	D	0	-21.3436	4.1256	0.10126	0.7241:0.0:0.0965:0.1793	.	131	Q5GAN4	RNS12_HUMAN	H	131	ENSP00000450580:L131H;ENSP00000372460:L131H	ENSP00000372460:L131H	L	-	2	0	RNASE12;AL163195.1	20128331	0.000000	0.05858	0.002000	0.10522	0.748000	0.42578	0.709000	0.25734	0.432000	0.26286	0.533000	0.62120	CTT		0.463	RNASE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411107.1			41	57	0	0	0	0	41	57				
ACTC1	70	broad.mit.edu	37	15	35084363	35084363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr15:35084363C>T	ENST00000290378.4	-	5	1391	c.736G>A	c.(736-738)Gat>Aat	p.D246N	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000558707.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	246					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)	p.D246N(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ACTTGGCCATCAGGCAGTTCA	0.522																																						uc001ziu.1		NA																	1	Substitution - Missense(1)	p.D246N(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(736-738)GAT>AAT		cardiac muscle alpha actin 1 proprotein							95.0	89.0	91.0					15																	35084363		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35084363C>T	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.736G>A	15.37:g.35084363C>T	ENSP00000290378:p.Asp246Asn					uc001zit.1_Intron	p.D246N	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	5	979	-		all_lung(180;2.3e-08)	246					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.736G>A	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408851	0.83340	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.97772	-4.53	4.75	4.75	0.60458	.	0.000000	0.53938	U	0.000056	D	0.98058	0.9360	M	0.94142	3.5	0.80722	D	1	B	0.21753	0.06	B	0.23018	0.043	D	0.97697	1.0182	10	0.87932	D	0	.	18.3069	0.90185	0.0:1.0:0.0:0.0	.	246	P68032	ACTC_HUMAN	N	246;211	ENSP00000290378:D246N	ENSP00000290378:D246N	D	-	1	0	ACTC1	32871655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.630000	0.89119	0.655000	0.94253	GAT		0.522	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		6	34	0	0	0	0	6	34				
CYP11A1	1583	broad.mit.edu	37	15	74630346	74630346	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr15:74630346G>A	ENST00000268053.6	-	9	1687	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	CYP11A1_ENST00000419019.2_Silent_p.F353F|CYP11A1_ENST00000358632.4_Silent_p.F353F	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	511					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	TAAAGGGCCAGAAGGTGAAGG	0.552																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2		NA																	0				ovary(2)	2						c.(1531-1533)TTC>TTT		cytochrome P450, family 11, subfamily A,	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						145.0	122.0	130.0					15																	74630346		2198	4297	6495	SO:0001819	synonymous_variant	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74630346G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1533C>T	15.37:g.74630346G>A						CYP11A1_uc002axs.2_Silent_p.F353F|CYP11A1_uc010bjm.1_Silent_p.F353F|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Silent_p.F429F	p.F511F	NM_000781	NP_000772	P05108	CP11A_HUMAN			9	1688	-			511					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	ENST00000268053.6	37	c.1533C>T	CCDS32291.1																																																																																				0.552	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			13	33	0	0	0	0	13	33				
MPG	4350	broad.mit.edu	37	16	129429	129429	+	Silent	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:129429C>T	ENST00000219431.4	+	3	276	c.45C>T	c.(43-45)tgC>tgT	p.C15C	MPG_ENST00000397817.1_5'UTR|MPG_ENST00000475280.1_3'UTR	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	15					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TACAGTTTTGCCGACGGATGG	0.547								Base excision repair (BER), DNA glycosylases																														uc002cfn.2		NA																	0				ovary(1)|skin(1)	2						c.(43-45)TGC>TGT	BER_DNA_glycosylases	N-methylpurine-DNA glycosylase isoform a							62.0	69.0	67.0					16																	129429		2203	4300	6503	SO:0001819	synonymous_variant	4350				depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	g.chr16:129429C>T		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.45C>T	16.37:g.129429C>T						MPG_uc002cfm.2_5'UTR|MPG_uc010bqp.2_5'UTR|MPG_uc002cfo.2_Silent_p.C10C	p.C15C	NM_002434	NP_002425	P29372	3MG_HUMAN			3	363	+		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	15					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Silent	SNP	ENST00000219431.4	37	c.45C>T	CCDS32346.1																																																																																				0.547	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			3	49	0	0	0	0	3	49				
HN1L	90861	broad.mit.edu	37	16	1747824	1747824	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:1747824C>G	ENST00000248098.3	+	4	405	c.348C>G	c.(346-348)ttC>ttG	p.F116L	HN1L_ENST00000569765.1_Missense_Mutation_p.L97V|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000562684.1_Missense_Mutation_p.F144L|HN1L_ENST00000382710.4_Missense_Mutation_p.F104L|HN1L_ENST00000561516.1_Missense_Mutation_p.L69V|HN1L_ENST00000382711.5_Missense_Mutation_p.F100L	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	116						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.F116L(1)		endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						ATCATGTTTTCTTATGTGAAG	0.393																																						uc002cmg.2		NA																	1	Substitution - Missense(1)	p.F116L(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(346-348)TTC>TTG		hematological and neurological expressed 1-like							232.0	209.0	217.0					16																	1747824		2199	4300	6499	SO:0001583	missense	90861					cytoplasm|nucleus		g.chr16:1747824C>G	AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 34"""	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.348C>G	16.37:g.1747824C>G	ENSP00000248098:p.Phe116Leu					HN1L_uc010uvi.1_Missense_Mutation_p.F144L|HN1L_uc010brt.2_RNA|HN1L_uc010bru.2_Missense_Mutation_p.L69V|HN1L_uc010uvj.1_Missense_Mutation_p.L97V|HN1L_uc010uvk.1_Missense_Mutation_p.F103L	p.F116L	NM_144570	NP_653171	Q9H910	HN1L_HUMAN			4	384	+			116					B1AJY2|Q6EIC7	Missense_Mutation	SNP	ENST00000248098.3	37	c.348C>G	CCDS10441.1	.	.	.	.	.	.	.	.	.	.	C	0.046	-1.266267	0.01433	.	.	ENSG00000206053	ENST00000248098;ENST00000382711;ENST00000382710	T;T	0.39787	1.06;1.06	5.13	-2.26	0.06867	.	0.505267	0.23199	N	0.050803	T	0.15046	0.0363	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.28839	-1.0031	10	0.11485	T	0.65	-39.3786	8.4004	0.32583	0.0:0.3022:0.537:0.1609	.	104;144;116	A6NGP5;B4DLH4;Q9H910	.;.;HN1L_HUMAN	L	116;144;104	ENSP00000248098:F116L;ENSP00000372157:F104L	ENSP00000248098:F116L	F	+	3	2	HN1L	1687825	0.608000	0.26966	0.000000	0.03702	0.435000	0.31806	0.245000	0.18142	-0.559000	0.06110	-0.142000	0.14014	TTC		0.393	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109086.2	NM_144570		28	80	0	0	0	0	28	80				
ALG1	56052	broad.mit.edu	37	16	5123195	5123195	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:5123195C>G	ENST00000262374.5	+	3	359	c.328C>G	c.(328-330)Cag>Gag	p.Q110E	ALG1_ENST00000588623.1_5'UTR|ALG1_ENST00000544428.1_5'UTR	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	110					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)	p.Q110E(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				AGTTGTACTTCAGGCTATGTA	0.517																																						uc002cym.2		NA																	1	Substitution - Missense(1)	p.Q110E(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(328-330)CAG>GAG		beta-1,4-mannosyltransferase							239.0	220.0	227.0					16																	5123195		2197	4300	6497	SO:0001583	missense	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5123195C>G	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.328C>G	16.37:g.5123195C>G	ENSP00000262374:p.Gln110Glu					ALG1_uc002cyj.2_5'UTR|ALG1_uc002cyn.2_Missense_Mutation_p.Q110E|ALG1_uc010bue.2_5'UTR|ALG1_uc010uxy.1_5'UTR	p.Q110E	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN			3	369	+		Ovarian(90;0.0164)	110			Lumenal (Potential).		B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	ENST00000262374.5	37	c.328C>G	CCDS10528.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601668	0.46423	.	.	ENSG00000033011	ENST00000262374	D	0.85955	-2.05	4.82	4.82	0.62117	.	0.056346	0.64402	D	0.000001	D	0.90342	0.6978	M	0.91249	3.19	0.80722	D	1	D	0.54772	0.968	P	0.47744	0.556	D	0.92892	0.6332	10	0.87932	D	0	-15.948	15.7603	0.78073	0.0:1.0:0.0:0.0	.	110	Q9BT22	ALG1_HUMAN	E	110	ENSP00000262374:Q110E	ENSP00000262374:Q110E	Q	+	1	0	ALG1	5063196	1.000000	0.71417	0.212000	0.23672	0.387000	0.30353	6.231000	0.72307	2.364000	0.80123	0.561000	0.74099	CAG		0.517	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		9	38	0	0	0	0	9	38				
GRIN2A	2903	broad.mit.edu	37	16	10273897	10273897	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:10273897G>A	ENST00000396573.2	-	3	681	c.372C>T	c.(370-372)atC>atT	p.I124I	GRIN2A_ENST00000404927.2_Silent_p.I124I|GRIN2A_ENST00000562109.1_Silent_p.I124I|GRIN2A_ENST00000330684.3_Silent_p.I124I|GRIN2A_ENST00000396575.2_Silent_p.I124I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	124					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)	p.L125fs*9(1)		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)	GAATGCCCAAGATGGGGACGA	0.612																																						uc002czo.3		NA																	1	Deletion - Frameshift(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(370-372)ATC>ATT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						60.0	56.0	58.0					16																	10273897		2197	4300	6497	SO:0001819	synonymous_variant	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.chr16:10273897G>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.372C>T	16.37:g.10273897G>A						GRIN2A_uc010uym.1_Silent_p.I124I|GRIN2A_uc002czr.3_Silent_p.I124I|GRIN2A_uc010buk.2_Silent_p.I124I	p.I124I	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			2	920	-			124			Extracellular (Potential).		O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.372C>T	CCDS10539.1																																																																																				0.612	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			12	27	0	0	0	0	12	27				
LOC81691	81691	broad.mit.edu	37	16	20856517	20856517	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:20856517C>T	ENST00000261377.6	+	18	2287	c.2078C>T	c.(2077-2079)cCa>cTa	p.P693L	AC004381.6_ENST00000564274.1_Missense_Mutation_p.P693L|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.P662L	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					ACAAGGCTCCCAGGGCTTCGT	0.577																																						uc002dhv.2		NA																	0				ovary(1)|kidney(1)	2						c.(2077-2079)CCA>CTA		exonuclease NEF-sp isoform 1							74.0	64.0	67.0					16																	20856517		2201	4300	6501	SO:0001583	missense	81691					nucleolus	exonuclease activity|nucleotide binding|RNA binding	g.chr16:20856517C>T																												ENST00000261377.6:c.2078C>T	16.37:g.20856517C>T	ENSP00000261377:p.Pro693Leu					ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.P662L|LOC81691_uc002dhw.2_Missense_Mutation_p.P436L|LOC81691_uc002dhy.3_Missense_Mutation_p.P693L	p.P693L	NM_030941	NP_112203	Q96IC2	REXON_HUMAN			18	2341	+			693						Missense_Mutation	SNP	ENST00000261377.6	37	c.2078C>T	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514056	0.27123	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.28454	1.61;2.0	5.18	-1.03	0.10102	.	1.162110	0.06348	N	0.709363	T	0.18718	0.0449	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.0	T	0.28490	-1.0042	10	0.40728	T	0.16	0.4087	4.6622	0.12648	0.1571:0.456:0.0:0.3869	.	662;693	Q96IC2-2;Q96IC2	.;REXON_HUMAN	L	662;693	ENSP00000261378:P662L;ENSP00000261377:P693L	ENSP00000261377:P693L	P	+	2	0	AC004381.6	20764018	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.109000	0.10840	-0.031000	0.13781	0.561000	0.74099	CCA		0.577	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			4	13	0	0	0	0	4	13				
CDH16	1014	broad.mit.edu	37	16	66950205	66950205	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:66950205C>T	ENST00000299752.4	-	4	450	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	CDH16_ENST00000568632.1_Missense_Mutation_p.R86Q|CDH16_ENST00000565796.1_Missense_Mutation_p.R86Q|CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.R86Q	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	86	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R86Q(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CTGCTCCTCTCGGTCCAGGGC	0.622																																						uc002eql.2		NA																	1	Substitution - Missense(1)	p.R86Q(1)	upper_aerodigestive_tract(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(256-258)CGA>CAA		cadherin 16 precursor							70.0	63.0	65.0					16																	66950205		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66950205C>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.257G>A	16.37:g.66950205C>T	ENSP00000299752:p.Arg86Gln					CDH16_uc010cdy.2_Missense_Mutation_p.R86Q|CDH16_uc002eqm.2_Missense_Mutation_p.R86Q	p.R86Q	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	4	330	-		Ovarian(137;0.0563)	86			Extracellular (Potential).|Cadherin 1.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.257G>A	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830564	0.50845	.	.	ENSG00000166589	ENST00000394055;ENST00000299752	T;T	0.74209	-0.82;-0.82	4.63	4.63	0.57726	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.88303	0.6400	H	0.97214	3.96	0.52501	D	0.999952	D;D;D	0.67145	0.992;0.987;0.996	P;P;P	0.56398	0.727;0.537;0.797	D	0.91363	0.5113	10	0.56958	D	0.05	-9.0284	12.8565	0.57888	0.0:1.0:0.0:0.0	.	86;86;86	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	Q	86	ENSP00000377619:R86Q;ENSP00000299752:R86Q	ENSP00000299752:R86Q	R	-	2	0	CDH16	65507706	0.996000	0.38824	0.997000	0.53966	0.996000	0.88848	2.627000	0.46469	2.425000	0.82216	0.609000	0.83330	CGA		0.622	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		18	31	0	0	0	0	18	31				
CHST6	4166	broad.mit.edu	37	16	75513510	75513510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr16:75513510C>T	ENST00000332272.4	-	3	396	c.217G>A	c.(217-219)Gcg>Acg	p.A73T	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.A73T	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	73					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACGTGCCACGCGGGCTCCATT	0.662																																						uc002fef.2		NA																	0					0	GRCh37	CM053804|CM065072	CHST6	M		c.(217-219)GCG>ACG		carbohydrate (N-acetylglucosamine 6-O)							42.0	35.0	37.0					16																	75513510		2198	4300	6498	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513510C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.217G>A	16.37:g.75513510C>T	ENSP00000328983:p.Ala73Thr					CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.A73T	p.A73T	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	397	-			73			Lumenal (Potential).		D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.217G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603090	0.66445	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.96491	-4.03;-4.03	4.56	4.56	0.56223	Sulfotransferase domain (1);	0.181813	0.46145	D	0.000307	D	0.97639	0.9226	M	0.83012	2.62	0.27327	N	0.956885	D	0.60575	0.988	P	0.62382	0.901	D	0.93974	0.7252	10	0.38643	T	0.18	.	14.8296	0.70137	0.0:1.0:0.0:0.0	.	73	Q9GZX3	CHST6_HUMAN	T	73	ENSP00000328983:A73T;ENSP00000375079:A73T	ENSP00000328983:A73T	A	-	1	0	CHST6	74071011	0.994000	0.37717	0.810000	0.32431	0.564000	0.35744	4.943000	0.63554	2.078000	0.62432	0.591000	0.81541	GCG		0.662	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		12	19	0	0	0	0	12	19				
EMC6	83460	broad.mit.edu	37	17	3572587	3572587	+	Silent	SNP	C	C	G	rs1148572		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:3572587C>G	ENST00000397133.2	+	2	387	c.147C>G	c.(145-147)ctC>ctG	p.L49L	TAX1BP3_ENST00000225525.3_5'Flank|EMC6_ENST00000248378.5_Silent_p.L49L|P2RX5-TAX1BP3_ENST00000550383.1_3'UTR	NM_001014764.1	NP_001014764.1	Q9BV81	EMC6_HUMAN	ER membrane protein complex subunit 6	49						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TCACCGGCCTCTACGGCTTCA	0.637																																						uc002fwf.1		NA																	0					0						c.(145-147)CTC>CTG		transmembrane protein 93							29.0	30.0	30.0					17																	3572587		2203	4299	6502	SO:0001819	synonymous_variant	83460					integral to membrane		g.chr17:3572587C>G		CCDS11033.1	17p13.2	2012-05-23	2012-05-23	2012-05-23		ENSG00000127774			28430	protein-coding gene	gene with protein product			"""transmembrane protein 93"""	TMEM93		22119785	Standard	NM_001014764		Approved	MGC2963	uc002fwg.1	Q9BV81		ENST00000397133.2:c.147C>G	17.37:g.3572587C>G						TAX1BP3_uc002fwc.2_5'Flank|P2RX5_uc002fwd.2_RNA|TAX1BP3_uc002fwe.1_5'Flank|TMEM93_uc002fwg.1_Silent_p.L49L|P2RX5_uc002fwh.1_3'UTR	p.L49L	NM_031298	NP_112588	Q9BV81	TMM93_HUMAN			2	300	+			49			Helical; (Potential).			Silent	SNP	ENST00000397133.2	37	c.147C>G	CCDS11033.1																																																																																				0.637	EMC6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450159.1	NM_031298		11	30	0	0	0	0	11	30				
NLGN2	57555	broad.mit.edu	37	17	7319416	7319416	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:7319416G>A	ENST00000302926.2	+	6	1697	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	NLGN2_ENST00000575301.1_Missense_Mutation_p.A542T	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	542					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GACCAACTTCGCCAAGACTGG	0.632																																						uc002ggt.1		NA																	0				central_nervous_system(1)	1						c.(1624-1626)GCC>ACC		neuroligin 2 precursor							38.0	36.0	37.0					17																	7319416		2203	4300	6503	SO:0001583	missense	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7319416G>A	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1624G>A	17.37:g.7319416G>A	ENSP00000305288:p.Ala542Thr						p.A542T	NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN			6	1697	+		Prostate(122;0.157)	542			Extracellular (Potential).		Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.1624G>A	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742431	0.89573	.	.	ENSG00000169992	ENST00000302926	T	0.74526	-0.85	5.29	5.29	0.74685	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.91372	0.7278	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94088	0.7350	10	0.87932	D	0	.	16.4725	0.84115	0.0:0.0:1.0:0.0	.	542	Q8NFZ4	NLGN2_HUMAN	T	542	ENSP00000305288:A542T	ENSP00000305288:A542T	A	+	1	0	NLGN2	7260140	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	9.645000	0.98471	2.761000	0.94854	0.655000	0.94253	GCC		0.632	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		12	25	0	0	0	0	12	25				
TP53	7157	broad.mit.edu	37	17	7576853	7576853	+	Splice_Site	SNP	C	C	T	rs11575996		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:7576853C>T	ENST00000269305.4	-	9	1182	c.993G>A	c.(991-993)caG>caA	p.Q331Q	TP53_ENST00000420246.2_Splice_Site_p.Q331Q|TP53_ENST00000445888.2_Splice_Site_p.Q331Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site_p.Q331Q|TP53_ENST00000455263.2_Splice_Site_p.Q331Q|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GACTTAGTACCTGAAGGGTGA	0.453		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		21	Substitution - Missense(9)|Whole gene deletion(8)|Insertion - Frameshift(2)|Unknown(1)|Substitution - coding silent(1)	p.Q331*(14)|p.0?(7)|p.Q331P(3)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1)|p.Q331R(1)|p.Q331H(1)|p.Q331fs*14(1)	bone(4)|large_intestine(3)|lung(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|urinary_tract(1)|liver(1)|skin(1)|breast(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(991-993)CAG>CAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							115.0	108.0	110.0					17																	7576853		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576853C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.993+1G>A	17.37:g.7576853C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Silent_p.Q331Q|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Silent_p.Q199Q|TP53_uc010cng.1_Silent_p.Q199Q|TP53_uc002gii.1_Silent_p.Q199Q|TP53_uc010cnh.1_Silent_p.Q331Q|TP53_uc010cni.1_Silent_p.Q331Q|TP53_uc002gij.2_Silent_p.Q331Q	p.Q331Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1187	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	331		Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	ENST00000269305.4	37	c.993G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064028	0.36373	.	.	ENSG00000141510	ENST00000419024	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	T	0.68897	0.3051	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67177	-0.5736	4	.	.	.	-17.7352	13.5611	0.61790	0.0:1.0:0.0:0.0	rs11575996	.	.	.	N	18	.	.	S	-	2	0	TP53	7517578	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	3.347000	0.52200	2.578000	0.87016	0.561000	0.74099	AGC		0.453	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	18	41	0	0	0	0	18	41				
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:7577082C>T	ENST00000269305.4	-	8	1045	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	TP53_ENST00000420246.2_Missense_Mutation_p.E286K|TP53_ENST00000445888.2_Missense_Mutation_p.E286K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.E286K|TP53_ENST00000455263.2_Missense_Mutation_p.E286K|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGATTCTCTTCCTCTGTGCGC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		112	Substitution - Missense(63)|Substitution - Nonsense(22)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.E286K(52)|p.E286*(14)|p.E286G(14)|p.0?(7)|p.E286V(6)|p.E286Q(5)|p.?(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.E286A(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(1)	lung(18)|upper_aerodigestive_tract(13)|breast(10)|large_intestine(9)|urinary_tract(9)|skin(9)|oesophagus(9)|haematopoietic_and_lymphoid_tissue(8)|liver(7)|central_nervous_system(6)|bone(4)|ovary(3)|stomach(2)|vulva(1)|soft_tissue(1)|eye(1)|biliary_tract(1)|endometrium(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM076567	TP53	M		c.(856-858)GAA>AAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							95.0	81.0	86.0					17																	7577082		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577082C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.856G>A	17.37:g.7577082C>T	ENSP00000269305:p.Glu286Lys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E286K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E154K|TP53_uc010cng.1_Missense_Mutation_p.E154K|TP53_uc002gii.1_Missense_Mutation_p.E154K|TP53_uc010cnh.1_Missense_Mutation_p.E286K|TP53_uc010cni.1_Missense_Mutation_p.E286K|TP53_uc002gij.2_Missense_Mutation_p.E286K	p.E286K	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1050	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	286		E -> V (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> G (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.856G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310731	0.81358	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.92077	3.27	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77557	0.983;0.985;0.982;0.99	D	0.96355	0.9261	10	0.87932	D	0	-23.2961	15.807	0.78520	0.0:1.0:0.0:0.0	.	286;286;286;286	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	286;286;286;286;286;275;154	ENSP00000352610:E286K;ENSP00000269305:E286K;ENSP00000398846:E286K;ENSP00000391127:E286K;ENSP00000391478:E286K;ENSP00000425104:E154K	ENSP00000269305:E286K	E	-	1	0	TP53	7517807	1.000000	0.71417	0.972000	0.41901	0.455000	0.32408	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	20	0	0	0	0	22	20				
SEZ6	124925	broad.mit.edu	37	17	27287979	27287979	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:27287979C>G	ENST00000317338.12	-	6	1681	c.1253G>C	c.(1252-1254)gGa>gCa	p.G418A	SEZ6_ENST00000442608.3_Missense_Mutation_p.G418A|SEZ6_ENST00000335960.6_Missense_Mutation_p.G418A|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.G418A			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	418	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)			GCGGATCACTCCGCCGCAAGC	0.607																																						uc002hdp.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1252-1254)GGA>GCA		seizure related 6 homolog isoform 1							100.0	117.0	111.0					17																	27287979		2154	4242	6396	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27287979C>G	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.1253G>C	17.37:g.27287979C>G	ENSP00000312942:p.Gly418Ala					SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.G418A|SEZ6_uc002hdq.1_Missense_Mutation_p.G293A	p.G418A	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)		6	1447	-	Lung NSC(42;0.0137)		418			Extracellular (Potential).|CUB 1.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.1253G>C	CCDS45639.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.96|16.96	3.267296|3.267296	0.59540|0.59540	.|.	.|.	ENSG00000063015|ENSG00000063015	ENST00000539265|ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960	.|T;T;T	.|0.35605	.|1.3;1.3;1.3	4.75|4.75	4.75|4.75	0.60458|0.60458	.|Complement control module (1);CUB (5);	.|.	.|.	.|.	.|.	T|T	0.66015|0.66015	0.2747|0.2747	M|M	0.88704|0.88704	2.975|2.975	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	T|T	0.72836|0.72836	-0.4172|-0.4172	5|9	.|0.72032	.|D	.|0.01	.|.	15.6392|15.6392	0.76981|0.76981	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|418;418	.|Q53EL9-3;Q53EL9	.|.;SEZ6_HUMAN	Q|A	5|418;418;293;418	.|ENSP00000403784:G418A;ENSP00000353440:G418A;ENSP00000337407:G418A	.|ENSP00000312942:G293A	E|G	-|-	1|2	0|0	SEZ6|SEZ6	24312105|24312105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.127000|0.127000	0.20565|0.20565	7.286000|7.286000	0.78671|0.78671	2.638000|2.638000	0.89438|0.89438	0.313000|0.313000	0.20887|0.20887	GAG|GGA		0.607	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			23	113	0	0	0	0	23	113				
GAS2L2	246176	broad.mit.edu	37	17	34079822	34079822	+	Silent	SNP	C	C	A	rs147495893	byFrequency	TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:34079822C>A	ENST00000254466.6	-	1	75	c.48G>T	c.(46-48)ccG>ccT	p.P16P	GAS2L2_ENST00000587565.1_Silent_p.P16P	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	16					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCACACAGGCGGCCCTAGGG	0.657																																						uc002hjv.1		NA																	0				ovary(1)|skin(1)	2						c.(46-48)CCG>CCT		growth arrest-specific 2 like 2							44.0	42.0	42.0					17																	34079822		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34079822C>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.48G>T	17.37:g.34079822C>A							p.P16P	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	76	-		Ovarian(249;0.17)	16					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.48G>T	CCDS11298.1																																																																																				0.657	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		16	51	1	0	9.17e-09	1.04e-08	16	51				
G6PC3	92579	broad.mit.edu	37	17	42148497	42148497	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:42148497T>C	ENST00000269097.4	+	1	395	c.164T>C	c.(163-165)aTc>aCc	p.I55T		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	55					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CGTGTGGGCATCGCGGTGCTC	0.612																																						uc002iex.2		NA																	0				skin(1)	1						c.(163-165)ATC>ACC		glucose-6-phosphatase catalytic subunit 3							73.0	60.0	64.0					17																	42148497		2203	4300	6503	SO:0001583	missense	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42148497T>C	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.164T>C	17.37:g.42148497T>C	ENSP00000269097:p.Ile55Thr					G6PC3_uc002iey.2_5'UTR|G6PC3_uc010czo.2_5'UTR|G6PC3_uc002iez.2_5'UTR|G6PC3_uc002ifa.1_Missense_Mutation_p.I55T	p.I55T	NM_138387	NP_612396	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	1	380	+		Breast(137;0.00637)|Prostate(33;0.0313)	55			Helical; (Potential).		Q8WU15	Missense_Mutation	SNP	ENST00000269097.4	37	c.164T>C	CCDS11476.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.545680	0.65198	.	.	ENSG00000141349	ENST00000269097	T	0.76060	-0.99	5.1	5.1	0.69264	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.405452	0.26345	N	0.024907	T	0.65903	0.2736	L	0.38838	1.175	0.38310	D	0.943227	P	0.35493	0.505	B	0.37015	0.239	T	0.69091	-0.5237	10	0.38643	T	0.18	-25.3058	12.5037	0.55970	0.0:0.0:0.0:1.0	.	55	Q9BUM1	G6PC3_HUMAN	T	55	ENSP00000269097:I55T	ENSP00000269097:I55T	I	+	2	0	G6PC3	39504023	0.167000	0.22975	0.997000	0.53966	0.997000	0.91878	2.913000	0.48790	2.148000	0.66965	0.459000	0.35465	ATC		0.612	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		10	26	0	0	0	0	10	26				
SLC25A39	51629	broad.mit.edu	37	17	42397759	42397759	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:42397759G>A	ENST00000377095.5	-	10	966	c.847C>T	c.(847-849)Cgc>Tgc	p.R283C	SLC25A39_ENST00000225308.8_Missense_Mutation_p.R275C|SLC25A39_ENST00000537904.2_Missense_Mutation_p.R260C|SLC25A39_ENST00000586016.1_Missense_Mutation_p.R151C|SLC25A39_ENST00000590194.1_Missense_Mutation_p.R275C	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	283					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R275C(1)		endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCGACCTGGCGTTGGGTCTTT	0.652																																						uc002ign.2		NA																	1	Substitution - Missense(1)	p.R275C(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(847-849)CGC>TGC		solute carrier family 25, member 39 isoform a							41.0	40.0	40.0					17																	42397759		2203	4300	6503	SO:0001583	missense	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42397759G>A	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.847C>T	17.37:g.42397759G>A	ENSP00000366299:p.Arg283Cys					SLC25A39_uc002igm.2_Missense_Mutation_p.R275C|SLC25A39_uc002igo.2_Missense_Mutation_p.R275C|SLC25A39_uc010wiw.1_Missense_Mutation_p.R260C|SLC25A39_uc010czu.2_Missense_Mutation_p.R151C	p.R283C	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	10	1001	-		Prostate(33;0.0233)	283			Solcar 3.		A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	c.847C>T	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057191	0.36277	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.78816	-1.21;-1.21;-1.21	5.14	4.16	0.48862	Mitochondrial carrier domain (2);	0.060317	0.64402	D	0.000007	D	0.85124	0.5625	M	0.78637	2.42	0.80722	D	1	B;D;B	0.89917	0.403;1.0;0.35	B;D;B	0.74023	0.173;0.982;0.173	D	0.83841	0.0257	10	0.38643	T	0.18	.	8.2631	0.31797	0.0:0.1486:0.5678:0.2836	.	260;283;275	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	C	275;283;260	ENSP00000225308:R275C;ENSP00000366299:R283C;ENSP00000444540:R260C	ENSP00000225308:R275C	R	-	1	0	SLC25A39	39753285	0.988000	0.35896	0.191000	0.23289	0.008000	0.06430	2.099000	0.41767	1.390000	0.46547	0.655000	0.94253	CGC		0.652	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		29	21	0	0	0	0	29	21				
BAHCC1	57597	broad.mit.edu	37	17	79409052	79409052	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr17:79409052G>A	ENST00000307745.7	+	9	677	c.677G>A	c.(676-678)aGa>aAa	p.R226K																								GAGCTGGGCAGAGAGAAGGCG	0.692																																						uc002kaf.2		NA																	0				ovary(1)	1						c.(676-678)AGA>AAA		BAH domain and coiled-coil containing 1							17.0	23.0	21.0					17																	79409052		2090	4183	6273	SO:0001583	missense	57597						DNA binding	g.chr17:79409052G>A																												ENST00000307745.7:c.677G>A	17.37:g.79409052G>A	ENSP00000303486:p.Arg226Lys					BAHCC1_uc002kae.2_5'Flank	p.R226K	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		3	677	+	all_neural(118;0.0804)|Melanoma(429;0.242)		226						Missense_Mutation	SNP	ENST00000307745.7	37	c.677G>A		.	.	.	.	.	.	.	.	.	.	g	0.053	-1.243815	0.01481	.	.	ENSG00000171282	ENST00000307745	T	0.09817	2.94	3.73	-0.493	0.12038	.	.	.	.	.	T	0.03263	0.0095	N	0.02802	-0.49	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.44467	-0.9326	9	0.02654	T	1	.	7.8978	0.29717	0.7033:0.0:0.2967:0.0	.	226	Q9P281	BAHC1_HUMAN	K	226	ENSP00000303486:R226K	ENSP00000303486:R226K	R	+	2	0	AC110285.1	77023647	0.943000	0.32029	0.759000	0.31340	0.273000	0.26683	1.627000	0.37050	-0.240000	0.09696	0.298000	0.19748	AGA		0.692	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	22	0	0	0	0	6	22				
LAMA1	284217	broad.mit.edu	37	18	7044739	7044739	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr18:7044739A>G	ENST00000389658.3	-	7	1051	c.958T>C	c.(958-960)Tcc>Ccc	p.S320P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	320	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GTATTGCCGGAGGACACGGTT	0.468																																						uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(958-960)TCC>CCC		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						123.0	117.0	119.0					18																	7044739		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7044739A>G	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.958T>C	18.37:g.7044739A>G	ENSP00000374309:p.Ser320Pro					LAMA1_uc010wzj.1_5'UTR	p.S320P	NM_005559	NP_005550	P25391	LAMA1_HUMAN			7	1052	-		Colorectal(10;0.172)	320			Laminin EGF-like 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.958T>C	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.389268	0.25118	.	.	ENSG00000101680	ENST00000389658	T	0.63255	-0.03	4.88	2.37	0.29283	EGF-like, laminin (3);	0.455627	0.19341	N	0.116643	T	0.61464	0.2349	L	0.54965	1.715	0.24437	N	0.994541	D	0.56746	0.977	P	0.52554	0.702	T	0.51521	-0.8695	10	0.25106	T	0.35	.	7.874	0.29582	0.4293:0.4527:0.0:0.118	.	320	P25391	LAMA1_HUMAN	P	320	ENSP00000374309:S320P	ENSP00000374309:S320P	S	-	1	0	LAMA1	7034739	0.993000	0.37304	0.011000	0.14972	0.004000	0.04260	1.841000	0.39240	0.266000	0.21894	0.533000	0.62120	TCC		0.468	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		22	120	0	0	0	0	22	120				
MISP	126353	broad.mit.edu	37	19	758639	758639	+	Missense_Mutation	SNP	C	C	T	rs138693251		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:758639C>T	ENST00000215582.6	+	2	1796	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	565					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R565W(1)									GGCAGAGGAGCGGAGAAATGC	0.607																																						uc002lpo.2		NA																	1	Substitution - Missense(1)	p.R565W(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(1693-1695)CGG>TGG		hypothetical protein LOC126353		C	TRP/ARG	0,4406		0,0,2203	52.0	56.0	55.0		1693	1.2	0.8	19	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	missense	C19orf21	NM_173481.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	565/680	758639	1,13005	2203	4300	6503	SO:0001583	missense	126353							g.chr19:758639C>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1693C>T	19.37:g.758639C>T	ENSP00000215582:p.Arg565Trp						p.R565W	NM_173481	NP_775752	Q8IVT2	CS021_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)	2	1776	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)	565			Potential.			Missense_Mutation	SNP	ENST00000215582.6	37	c.1693C>T	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280231	0.40294	0.0	1.16E-4	ENSG00000099812	ENST00000215582	T	0.80393	-1.37	3.69	1.2	0.21068	.	0.233737	0.27464	N	0.019251	D	0.85561	0.5725	M	0.61703	1.905	0.31998	N	0.603789	D	0.89917	1.0	D	0.85130	0.997	D	0.85282	0.1062	10	0.87932	D	0	-19.9874	9.6318	0.39785	0.4061:0.5939:0.0:0.0	.	565	Q8IVT2	CS021_HUMAN	W	565	ENSP00000215582:R565W	ENSP00000215582:R565W	R	+	1	2	C19orf21	709639	1.000000	0.71417	0.822000	0.32727	0.377000	0.30045	1.139000	0.31504	0.777000	0.33496	-0.397000	0.06425	CGG		0.607	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		25	42	0	0	0	0	25	42				
CACTIN	58509	broad.mit.edu	37	19	3613305	3613305	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:3613305C>T	ENST00000429344.2	-	9	1589	c.1537G>A	c.(1537-1539)Gcg>Acg	p.A513T	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.A445T|CACTIN_ENST00000248420.5_Missense_Mutation_p.A513T	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	513					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TCGGCCTCCGCGGGGCCGCCC	0.781																																						uc002lyh.2		NA																	0					0						c.(1537-1539)GCG>ACG		chromosome 19 open reading frame 29							8.0	10.0	10.0					19																	3613305		1731	3772	5503	SO:0001583	missense	58509					catalytic step 2 spliceosome	protein binding	g.chr19:3613305C>T	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.1537G>A	19.37:g.3613305C>T	ENSP00000415078:p.Ala513Thr					C19orf29_uc010xho.1_5'UTR|C19orf29_uc010dtn.2_Missense_Mutation_p.A361T|C19orf29_uc002lyi.3_Missense_Mutation_p.A513T|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	p.A513T	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1590	-		Hepatocellular(1079;0.137)	513					A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	c.1537G>A	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600734	0.28534	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	3.87	1.68	0.24146	.	1.123640	0.06690	N	0.769430	T	0.35248	0.0925	L	0.60455	1.87	0.09310	N	1	B;B	0.25563	0.129;0.001	B;B	0.18263	0.021;0.0	T	0.25882	-1.0119	9	0.18710	T	0.47	.	5.4079	0.16332	0.0:0.6822:0.2037:0.1141	.	513;513	Q8WUQ7-2;Q8WUQ7	.;CS029_HUMAN	T	513;513;445	.	ENSP00000221899:A445T	A	-	1	0	C19orf29	3564305	0.002000	0.14202	0.000000	0.03702	0.121000	0.20230	-0.022000	0.12480	0.305000	0.22832	0.561000	0.74099	GCG		0.781	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			8	9	0	0	0	0	8	9				
DPP9	91039	broad.mit.edu	37	19	4679886	4679886	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:4679886G>A	ENST00000598800.1	-	22	2965	c.2460C>T	c.(2458-2460)gtC>gtT	p.V820V	DPP9_ENST00000594671.1_Silent_p.V820V|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000262960.9_Silent_p.V849V			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	820						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)		TCAGTTGGGAGACGAGGAAGT	0.602																																						uc002mba.2		NA																	0				skin(1)	1						c.(2545-2547)GTC>GTT		dipeptidylpeptidase 9							84.0	85.0	85.0					19																	4679886		1895	4112	6007	SO:0001819	synonymous_variant	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4679886G>A	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.2460C>T	19.37:g.4679886G>A							p.V849V	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	21	2805	-		Hepatocellular(1079;0.137)	820					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Silent	SNP	ENST00000598800.1	37	c.2547C>T																																																																																					0.602	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			3	11	0	0	0	0	3	11				
ZNRF4	148066	broad.mit.edu	37	19	5455843	5455843	+	Missense_Mutation	SNP	C	C	T	rs199676664		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:5455843C>T	ENST00000222033.4	+	1	418	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	114						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTGGACTTTGCGGATCTGCCG	0.667																																						uc002mca.3		NA																	0				large_intestine(2)	2						c.(340-342)GCG>GTG		zinc and ring finger 4 precursor							50.0	59.0	56.0					19																	5455843		2112	4215	6327	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5455843C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.341C>T	19.37:g.5455843C>T	ENSP00000222033:p.Ala114Val						p.A114V	NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	418	+			114			Extracellular (Potential).		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.341C>T	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	5.011	0.187799	0.09547	.	.	ENSG00000105428	ENST00000222033	T	0.04706	3.57	4.34	0.627	0.17675	.	0.646960	0.14779	U	0.298908	T	0.03915	0.0110	L	0.58101	1.795	0.09310	N	1	P	0.35011	0.48	B	0.21360	0.034	T	0.38908	-0.9639	10	0.30854	T	0.27	.	4.0098	0.09618	0.0:0.3583:0.2521:0.3896	.	114	Q8WWF5	ZNRF4_HUMAN	V	114	ENSP00000222033:A114V	ENSP00000222033:A114V	A	+	2	0	ZNRF4	5406843	0.000000	0.05858	0.005000	0.12908	0.035000	0.12851	-0.284000	0.08422	0.267000	0.21916	0.491000	0.48974	GCG		0.667	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		4	109	0	0	0	0	4	109				
ACTL9	284382	broad.mit.edu	37	19	8807822	8807822	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:8807822G>A	ENST00000324436.3	-	1	1350	c.1230C>T	c.(1228-1230)atC>atT	p.I410I		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	410						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGCGGTACACGATATAGGGAC	0.632																																						uc002mkl.2		NA																	0				large_intestine(2)|pancreas(1)	3						c.(1228-1230)ATC>ATT		actin-like 9							52.0	50.0	50.0					19																	8807822		2200	4298	6498	SO:0001819	synonymous_variant	284382					cytoplasm|cytoskeleton		g.chr19:8807822G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1230C>T	19.37:g.8807822G>A							p.I410I	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			1	1351	-			410					A8K893|Q6X960	Silent	SNP	ENST00000324436.3	37	c.1230C>T	CCDS12207.1																																																																																				0.632	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		21	36	0	0	0	0	21	36				
OR7D2	162998	broad.mit.edu	37	19	9296557	9296557	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:9296557A>G	ENST00000344248.2	+	1	279	c.100A>G	c.(100-102)Atg>Gtg	p.M34V		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	34					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M34V(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GTTCCTGTCCATGTACCTGGT	0.512																																						uc002mkz.1		NA																	1	Substitution - Missense(1)	p.M34V(1)	upper_aerodigestive_tract(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(100-102)ATG>GTG		olfactory receptor, family 7, subfamily D,							90.0	85.0	87.0					19																	9296557		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296557A>G	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.100A>G	19.37:g.9296557A>G	ENSP00000345563:p.Met34Val						p.M34V	NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN			1	288	+			34			Helical; Name=1; (Potential).		Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.100A>G	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	A	5.468	0.271364	0.10349	.	.	ENSG00000188000	ENST00000344248	T	0.00421	7.46	2.21	2.21	0.28008	.	0.000000	0.48286	U	0.000188	T	0.00271	0.0008	L	0.31476	0.935	0.09310	N	0.999994	B	0.19706	0.038	B	0.17979	0.02	T	0.45190	-0.9278	10	0.66056	D	0.02	.	9.5169	0.39111	1.0:0.0:0.0:0.0	.	34	Q96RA2	OR7D2_HUMAN	V	34	ENSP00000345563:M34V	ENSP00000345563:M34V	M	+	1	0	OR7D2	9157557	0.000000	0.05858	0.399000	0.26333	0.563000	0.35712	-0.211000	0.09332	1.296000	0.44742	0.418000	0.28097	ATG		0.512	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			3	27	0	0	0	0	3	27				
ZNF653	115950	broad.mit.edu	37	19	11598501	11598501	+	Silent	SNP	G	G	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:11598501G>T	ENST00000293771.5	-	4	913	c.777C>A	c.(775-777)acC>acA	p.T259T	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	259					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)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGCACAGCGGGGTACCCTGCT	0.682																																					Pancreas(83;980 1446 4542 6441 43352)	uc002mrz.1		NA																	0					0						c.(775-777)ACC>ACA		zinc finger protein 653							46.0	45.0	46.0					19																	11598501		2203	4298	6501	SO:0001819	synonymous_variant	115950				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11598501G>T	AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.777C>A	19.37:g.11598501G>T							p.T259T	NM_138783	NP_620138	Q96CK0	ZN653_HUMAN			4	830	-			259					Q96AS7	Silent	SNP	ENST00000293771.5	37	c.777C>A	CCDS12261.1																																																																																				0.682	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		26	47	1	0	8.25e-16	9.59e-16	26	47				
ZNF708	7562	broad.mit.edu	37	19	21493405	21493405	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:21493405C>A	ENST00000356929.3	-	2	225	c.28G>T	c.(28-30)Gcc>Tcc	p.A10S		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	0					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(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						AATTCTATGGCCACATCCATA	0.388																																						uc002npq.1		NA																	0				central_nervous_system(4)|skin(2)	6						c.(28-30)GCC>TCC		zinc finger protein 708							81.0	86.0	84.0					19																	21493405		2203	4300	6503	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21493405C>A	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.28G>T	19.37:g.21493405C>A	ENSP00000349401:p.Ala10Ser					ZNF708_uc002npr.1_Intron|ZNF708_uc010ecs.1_Intron	p.A10S	NM_021269	NP_067092	P17019	ZN708_HUMAN			2	226	-			10			KRAB.		Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.28G>T	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	8.600	0.886716	0.17540	.	.	ENSG00000182141	ENST00000356929	T	0.03181	4.02	1.22	1.22	0.21188	Krueppel-associated box (4);	.	.	.	.	T	0.14657	0.0354	M	0.83774	2.66	0.09310	N	1	D	0.67145	0.996	D	0.71414	0.973	T	0.06481	-1.0824	9	0.62326	D	0.03	.	5.3307	0.15930	0.0:1.0:0.0:0.0	.	10	P17019	ZN708_HUMAN	S	10	ENSP00000349401:A10S	ENSP00000349401:A10S	A	-	1	0	ZNF708	21285245	0.004000	0.15560	0.200000	0.23457	0.202000	0.24057	1.220000	0.32491	0.300000	0.22699	0.305000	0.20034	GCC		0.388	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		28	45	1	0	1.51e-07	1.69e-07	28	45				
ZNF534	147658	broad.mit.edu	37	19	52941603	52941603	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr19:52941603C>A	ENST00000332323.6	+	4	990	c.929C>A	c.(928-930)cCt>cAt	p.P310H	ZNF534_ENST00000433050.1_Missense_Mutation_p.P297H|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	310					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)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GGAGAGAAGCCTTACAAATGT	0.393																																						uc002pzk.2		NA																	0					0						c.(928-930)CCT>CAT		zinc finger protein 534 isoform 2							67.0	60.0	62.0					19																	52941603		1568	3582	5150	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52941603C>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.929C>A	19.37:g.52941603C>A	ENSP00000327538:p.Pro310His					ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.P297H	p.P310H	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	990	+			310					Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.929C>A	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	C	8.085	0.773266	0.16051	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.17528	2.27;2.27	1.82	0.648	0.17801	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42017	0.1184	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.99;1.0	P;D	0.97110	0.664;1.0	T	0.29912	-0.9996	9	0.87932	D	0	.	7.4612	0.27296	0.4509:0.5491:0.0:0.0	.	297;310	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	H	310;297;309	ENSP00000327538:P310H;ENSP00000391358:P297H	ENSP00000327538:P310H	P	+	2	0	ZNF534	57633415	0.000000	0.05858	0.191000	0.23289	0.021000	0.10359	0.466000	0.22019	0.068000	0.16574	-0.518000	0.04402	CCT		0.393	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		5	28	1	0	0.000602214	0.000640273	5	28				
CYP1B1	1545	broad.mit.edu	37	2	38301497	38301497	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:38301497G>A	ENST00000260630.3	-	2	1436	c.1035C>T	c.(1033-1035)ctC>ctT	p.L345L	CYP1B1-AS1_ENST00000431999.1_RNA|CYP1B1_ENST00000494864.1_Intron|CYP1B1-AS1_ENST00000589303.1_RNA|CYP1B1_ENST00000407341.1_Silent_p.L345L	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	345			L -> F (in POAG). {ECO:0000269|PubMed:11774072}.		angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	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)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	ACCTGGTGAAGAGGAGGAGCA	0.602																																						uc002rqo.2		NA																	0				ovary(1)|central_nervous_system(1)	2	GRCh37	CD066684	CYP1B1	D		c.(1033-1035)CTC>CTT		cytochrome P450, family 1, subfamily B,	Estrone(DB00655)						22.0	27.0	25.0					2																	38301497		2203	4300	6503	SO:0001819	synonymous_variant	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38301497G>A	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1035C>T	2.37:g.38301497G>A							p.L345L	NM_000104	NP_000095	Q16678	CP1B1_HUMAN			3	1438	-		all_hematologic(82;0.21)	345		L -> F (in POAG).			Q5TZW8|Q93089|Q9H316	Silent	SNP	ENST00000260630.3	37	c.1035C>T	CCDS1793.1																																																																																				0.602	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		6	16	0	0	0	0	6	16				
SMYD5	10322	broad.mit.edu	37	2	73447180	73447180	+	Splice_Site	SNP	C	C	T	rs371727034		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:73447180C>T	ENST00000389501.4	+	3	252	c.207C>T	c.(205-207)gcC>gcT	p.A69A	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	69	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CACCGTCAGCCTGTGACCACT	0.567																																						uc002siw.2		NA																	0					0						c.(205-207)GCC>GCT		SMYD family member 5							81.0	79.0	80.0					2																	73447180		2031	4193	6224	SO:0001630	splice_region_variant	10322						metal ion binding	g.chr2:73447180C>T	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.206-1C>T	2.37:g.73447180C>T						SMYD5_uc010yre.1_Intron|SMYD5_uc002six.1_5'Flank	p.A69A	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN			3	236	+			69					D6W5H3|Q13558	Silent	SNP	ENST00000389501.4	37	c.207C>T	CCDS33221.2																																																																																				0.567	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062	Silent	20	27	0	0	0	0	20	27				
SEMA4F	10505	broad.mit.edu	37	2	74902408	74902408	+	Silent	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:74902408C>T	ENST00000357877.2	+	10	1418	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	SEMA4F_ENST00000339773.5_Silent_p.G268G|SEMA4F_ENST00000473350.1_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	423	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CAGCTGATGGCCACCCCCTGC	0.587											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002sna.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1267-1269)GGC>GGT		semaphorin W precursor							70.0	63.0	66.0					2																	74902408		2203	4300	6503	SO:0001819	synonymous_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74902408C>T	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1269C>T	2.37:g.74902408C>T			OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1156	SEMA4F_uc010ffq.1_Silent_p.G390G|SEMA4F_uc010ffr.1_Silent_p.G35G|SEMA4F_uc002snb.1_Silent_p.G35G|SEMA4F_uc002snc.1_Silent_p.G268G	p.G423G	NM_004263	NP_004254	O95754	SEM4F_HUMAN			10	1380	+			423			Sema.|Extracellular (Potential).		Q542Y7|Q9NS35	Silent	SNP	ENST00000357877.2	37	c.1269C>T	CCDS1955.1																																																																																				0.587	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		6	25	0	0	0	0	6	25				
NEB	4703	broad.mit.edu	37	2	152539188	152539188	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:152539188G>A	ENST00000172853.10	-	29	3078	c.2931C>T	c.(2929-2931)gaC>gaT	p.D977D	NEB_ENST00000604864.1_Silent_p.D977D|NEB_ENST00000427231.2_Silent_p.D977D|NEB_ENST00000409198.1_Silent_p.D977D|NEB_ENST00000397345.3_Silent_p.D977D|NEB_ENST00000603639.1_Silent_p.D977D			P20929	NEBU_HUMAN	nebulin	977					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)		CATTGAGGATGTCTGAAGCTC	0.468																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(2929-2931)GAC>GAT		nebulin isoform 3							102.0	102.0	102.0					2																	152539188		2076	4199	6275	SO:0001819	synonymous_variant	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.chr2:152539188G>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.2931C>T	2.37:g.152539188G>A							p.D977D	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	29	3122	-			977			Nebulin 23.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.2931C>T																																																																																					0.468	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		13	10	0	0	0	0	13	10				
TTN	7273	broad.mit.edu	37	2	179642181	179642181	+	Silent	SNP	G	G	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:179642181G>T	ENST00000591111.1	-	26	4835	c.4611C>A	c.(4609-4611)ggC>ggA	p.G1537G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.G1537G|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Silent_p.G1491G|TTN_ENST00000460472.2_Silent_p.G1491G|TTN_ENST00000342175.6_Silent_p.G1491G|TTN_ENST00000589042.1_Silent_p.G1537G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.G1537G			Q8WZ42	TITIN_HUMAN	titin	12399	Ig-like 6.				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)			TTGAAGATCTGCCTGCCCTGT	0.363																																						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.(4609-4611)GGC>GGA		titin isoform N2-A							54.0	53.0	53.0					2																	179642181		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179642181G>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.4611C>A	2.37:g.179642181G>T						TTN_uc010zfh.1_Silent_p.G1491G|TTN_uc010zfi.1_Silent_p.G1491G|TTN_uc010zfj.1_Silent_p.G1491G|TTN_uc002unb.2_Silent_p.G1537G|uc002unc.1_RNA	p.G1537G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		26	4835	-			1537					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.4611C>A																																																																																					0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	25	1	0	6.43e-13	7.35e-13	10	25				
TTN	7273	broad.mit.edu	37	2	179647599	179647599	+	Nonsense_Mutation	SNP	G	G	A	rs397517547		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:179647599G>A	ENST00000591111.1	-	18	3258	c.3034C>T	c.(3034-3036)Cga>Tga	p.R1012*	TTN_ENST00000360870.5_Nonsense_Mutation_p.R1012*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R966*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R966*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R966*|TTN_ENST00000589042.1_Nonsense_Mutation_p.R1012*|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R1012*			Q8WZ42	TITIN_HUMAN	titin	32565	Ig-like 3.				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)	p.R1012*(2)		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)			CAAGTAAATCGCCCGCTGTCT	0.502																																						uc010zfg.1		NA																	2	Substitution - Nonsense(2)	p.R1012*(2)	upper_aerodigestive_tract(2)	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.(3034-3036)CGA>TGA		titin isoform N2-A							95.0	84.0	88.0					2																	179647599		2203	4300	6503	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647599G>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.3034C>T	2.37:g.179647599G>A	ENSP00000465570:p.Arg1012*					TTN_uc010zfh.1_Nonsense_Mutation_p.R966*|TTN_uc010zfi.1_Nonsense_Mutation_p.R966*|TTN_uc010zfj.1_Nonsense_Mutation_p.R966*|TTN_uc002unb.2_Nonsense_Mutation_p.R1012*	p.R1012*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		18	3258	-			1012					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.3034C>T		.	.	.	.	.	.	.	.	.	.	G	43	9.887659	0.99288	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	6.17	3.03	0.35002	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8494	0.63487	0.0:0.0:0.3264:0.6736	.	.	.	.	X	1012;966;966;966;966;1012	.	ENSP00000340554:R966X	R	-	1	2	TTN	179355844	1.000000	0.71417	0.990000	0.47175	0.873000	0.50193	2.559000	0.45888	0.863000	0.35553	0.655000	0.94253	CGA		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	29	0	0	0	0	20	29				
PER2	8864	broad.mit.edu	37	2	239180022	239180022	+	Missense_Mutation	SNP	C	C	T	rs368200140		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr2:239180022C>T	ENST00000254657.3	-	6	982	c.703G>A	c.(703-705)Gat>Aat	p.D235N	PER2_ENST00000254658.3_Missense_Mutation_p.D235N|PER2_ENST00000440245.1_Missense_Mutation_p.D235N|PER2_ENST00000355768.2_Missense_Mutation_p.D235N	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	235	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)		ACGCCCACATCGTGAGGCGCC	0.522																																						uc002vyc.2		NA																	0				upper_aerodigestive_tract(1)|breast(1)	2						c.(703-705)GAT>AAT		period 2			ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	139.0	121.0	127.0		703	5.1	0.4	2		127	0,8600		0,0,4300	no	missense	PER2	NM_022817.2	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	235/1256	239180022	1,13005	2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239180022C>T	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.703G>A	2.37:g.239180022C>T	ENSP00000254657:p.Asp235Asn					PER2_uc010znv.1_Missense_Mutation_p.D235N|PER2_uc010znw.1_Missense_Mutation_p.D235N|PER2_uc010fyx.1_Missense_Mutation_p.D235N	p.D235N	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)	6	940	-		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)	235			PAS 1.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.703G>A	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238863	0.79800	2.27E-4	0.0	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.77620	0.86;-1.11;0.14;-1.11	5.06	5.06	0.68205	PAS (1);	0.000000	0.85682	D	0.000000	D	0.89097	0.6618	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	1.0;0.966;1.0;1.0	D;P;D;D	0.97110	0.94;0.463;0.981;1.0	D	0.90759	0.4663	10	0.87932	D	0	-32.8121	16.3281	0.82996	0.0:1.0:0.0:0.0	.	235;235;235;235	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	N	235	ENSP00000254657:D235N;ENSP00000254658:D235N;ENSP00000397516:D235N;ENSP00000348013:D235N	ENSP00000254657:D235N	D	-	1	0	PER2	238844761	1.000000	0.71417	0.403000	0.26384	0.385000	0.30292	7.535000	0.82014	2.525000	0.85131	0.655000	0.94253	GAT		0.522	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		19	64	0	0	0	0	19	64				
SCRT2	85508	broad.mit.edu	37	20	644433	644433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr20:644433C>T	ENST00000246104.6	-	2	1383	c.806G>A	c.(805-807)cGc>cAc	p.R269H	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	269					negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)	nuclear chromatin (GO:0000790)	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 negative regulation of transcription (GO:0001078)			kidney(1)|liver(1)|ovary(1)	3						CTGGCGGCAGCGGTAGTGCTT	0.701																																						uc002wec.2		NA																	0					0						c.(805-807)CGC>CAC		scratch 2 protein							10.0	11.0	10.0					20																	644433		2155	4234	6389	SO:0001583	missense	85508				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:644433C>T		CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397		"""Zinc fingers, C2H2-type"""	15952	protein-coding gene	gene with protein product			"""scratch (drosophila homolog) 2, zinc finger protein"", ""scratch homolog 2, zinc finger protein (Drosophila)"""			11274425	Standard	NM_033129		Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.806G>A	20.37:g.644433C>T	ENSP00000246104:p.Arg269His					SRXN1_uc002web.2_Intron	p.R269H	NM_033129	NP_149120	Q9NQ03	SCRT2_HUMAN			2	1384	-			269			C2H2-type 5; atypical.			Missense_Mutation	SNP	ENST00000246104.6	37	c.806G>A	CCDS13006.1	.	.	.	.	.	.	.	.	.	.	c	15.59	2.878072	0.51801	.	.	ENSG00000215397	ENST00000246104	T	0.18174	2.23	3.66	1.49	0.22878	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.197144	0.29900	U	0.010911	T	0.08313	0.0207	N	0.20357	0.565	0.34377	D	0.692737	B	0.30114	0.269	B	0.22753	0.041	T	0.14839	-1.0458	10	0.66056	D	0.02	-18.7828	4.2478	0.10680	0.0:0.4858:0.0:0.5142	.	269	Q9NQ03	SCRT2_HUMAN	H	269	ENSP00000246104:R269H	ENSP00000246104:R269H	R	-	2	0	SCRT2	592433	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	1.261000	0.32980	0.726000	0.32339	0.457000	0.33378	CGC		0.701	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253383.2	NM_033129		7	6	0	0	0	0	7	6				
DSCAM	1826	broad.mit.edu	37	21	41719759	41719759	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr21:41719759T>C	ENST00000400454.1	-	6	1525	c.1048A>G	c.(1048-1050)Aat>Gat	p.N350D		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	350	Ig-like C2-type 4.				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)				ATTTCACCATTGCGGTACCAG	0.502																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(1048-1050)AAT>GAT		Down syndrome cell adhesion molecule isoform							220.0	201.0	208.0					21																	41719759		1953	4155	6108	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.chr21:41719759T>C	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.1048A>G	21.37:g.41719759T>C	ENSP00000383303:p.Asn350Asp					DSCAM_uc002yyr.1_RNA	p.N350D	NM_001389	NP_001380	O60469	DSCAM_HUMAN			6	1500	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	350			Extracellular (Potential).|Ig-like C2-type 4.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1048A>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617646	0.46736	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;D	0.81996	-0.81;-1.56	5.58	4.43	0.53597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048978	0.85682	D	0.000000	D	0.83298	0.5224	L	0.36672	1.1	0.45108	D	0.998123	D	0.64830	0.994	D	0.64506	0.926	T	0.78201	-0.2296	10	0.07990	T	0.79	.	12.9552	0.58424	0.0:0.0:0.1354:0.8646	.	350	O60469	DSCAM_HUMAN	D	350;102	ENSP00000383303:N350D;ENSP00000385342:N102D	ENSP00000383303:N350D	N	-	1	0	DSCAM	40641629	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	6.208000	0.72165	0.938000	0.37419	-0.264000	0.10439	AAT		0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		5	129	0	0	0	0	5	129				
EFCAB6	64800	broad.mit.edu	37	22	44004470	44004470	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr22:44004470T>C	ENST00000262726.7	-	22	2826	c.2573A>G	c.(2572-2574)gAa>gGa	p.E858G	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E706G	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	858	EF-hand 9. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E858G(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATTATCGGTTTCTAGAAAATT	0.403																																						uc003bdy.1		NA																	1	Substitution - Missense(1)	p.E858G(1)	upper_aerodigestive_tract(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(2572-2574)GAA>GGA		CAP-binding protein complex interacting protein							123.0	98.0	107.0					22																	44004470		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44004470T>C	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2573A>G	22.37:g.44004470T>C	ENSP00000262726:p.Glu858Gly					EFCAB6_uc003bdz.1_Missense_Mutation_p.E706G|EFCAB6_uc010gzi.1_Missense_Mutation_p.E706G|EFCAB6_uc010gzj.1_Intron	p.E858G	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			22	2788	-		Ovarian(80;0.0247)|all_neural(38;0.025)	858			EF-hand 9.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.2573A>G	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.709215	0.48517	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.49139	0.79;0.79	4.73	4.73	0.59995	EF-hand-like domain (1);	0.145914	0.45867	D	0.000338	T	0.48150	0.1484	N	0.24115	0.695	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.38286	-0.9668	10	0.29301	T	0.29	-38.6091	9.4555	0.38751	0.0:0.0833:0.0:0.9167	.	858	Q5THR3	EFCB6_HUMAN	G	706;858	ENSP00000379533:E706G;ENSP00000262726:E858G	ENSP00000262726:E858G	E	-	2	0	EFCAB6	42335803	1.000000	0.71417	0.991000	0.47740	0.327000	0.28475	2.457000	0.45005	2.108000	0.64289	0.533000	0.62120	GAA		0.403	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		12	34	0	0	0	0	12	34				
SETD5	55209	broad.mit.edu	37	3	9489625	9489625	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:9489625A>G	ENST00000406341.1	+	14	2228	c.2038A>G	c.(2038-2040)Act>Gct	p.T680A	SETD5_ENST00000402466.1_Missense_Mutation_p.T582A|SETD5_ENST00000302463.6_Missense_Mutation_p.T582A|SETD5_ENST00000402198.1_Missense_Mutation_p.T680A|SETD5_ENST00000407969.1_Missense_Mutation_p.T699A|SETD5_ENST00000488236.1_3'UTR			Q9C0A6	SETD5_HUMAN	SET domain containing 5	680										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTCTGACCCAACTGTGGTGTC	0.443																																						uc003brt.2		NA																	0				ovary(2)	2						c.(2038-2040)ACT>GCT		SET domain containing 5							77.0	73.0	74.0					3																	9489625		1939	4150	6089	SO:0001583	missense	55209							g.chr3:9489625A>G	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2038A>G	3.37:g.9489625A>G	ENSP00000383939:p.Thr680Ala					SETD5_uc003brs.1_Missense_Mutation_p.T661A|SETD5_uc003bru.2_Missense_Mutation_p.T582A|SETD5_uc003brv.2_Missense_Mutation_p.T569A|SETD5_uc010hck.2_Missense_Mutation_p.T162A|SETD5_uc003brx.2_Missense_Mutation_p.T349A	p.T680A	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	15	2473	+	Medulloblastoma(99;0.227)		680					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.2038A>G	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.402|3.402	-0.121945|-0.121945	0.06795|0.06795	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000399686|ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	.|D;D;D;D;D	.|0.91464	.|-2.53;-2.85;-2.53;-2.54;-2.85	5.81|5.81	3.69|3.69	0.42338|0.42338	.|.	.|0.807664	.|0.11900	.|N	.|0.518669	T|T	0.76807|0.76807	0.4039|0.4039	N|N	0.08118|0.08118	0|0	0.22710|0.22710	N|N	0.998823|0.998823	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.04013	.|0.001;0.001;0.0;0.001	T|T	0.61471|0.61471	-0.7056|-0.7056	5|10	.|0.15952	.|T	.|0.53	0.0633|0.0633	4.1208|4.1208	0.10104|0.10104	0.4644:0.1812:0.3544:0.0|0.4644:0.1812:0.3544:0.0	.|.	.|349;582;680;699	.|B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.|.;.;SETD5_HUMAN;.	S|A	347|680;582;680;699;582	.|ENSP00000385852:T680A;ENSP00000384429:T582A;ENSP00000383939:T680A;ENSP00000384114:T699A;ENSP00000302028:T582A	.|ENSP00000302028:T582A	N|T	+|+	2|1	0|0	SETD5|SETD5	9464625|9464625	0.002000|0.002000	0.14202|0.14202	0.989000|0.989000	0.46669|0.46669	0.901000|0.901000	0.52897|0.52897	-0.102000|-0.102000	0.10956|0.10956	0.498000|0.498000	0.27948|0.27948	-0.290000|-0.290000	0.09829|0.09829	AAC|ACT		0.443	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		2	10	0	0	0	0	2	10				
ITIH1	3697	broad.mit.edu	37	3	52819104	52819104	+	Silent	SNP	T	T	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:52819104T>C	ENST00000273283.2	+	12	1476	c.1452T>C	c.(1450-1452)gaT>gaC	p.D484D	ITIH1_ENST00000537050.1_Silent_p.D196D|ITIH1_ENST00000540715.1_Silent_p.D342D|ITIH1_ENST00000542827.1_Silent_p.D484D|ITIH1_ENST00000405128.3_5'Flank	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	484	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGGATGTGGATTTGCAGTACC	0.562																																						uc003dfs.2		NA																	0				ovary(3)	3						c.(1450-1452)GAT>GAC		inter-alpha (globulin) inhibitor H1							114.0	107.0	109.0					3																	52819104		2203	4300	6503	SO:0001819	synonymous_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52819104T>C		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1452T>C	3.37:g.52819104T>C						ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Silent_p.D85D|ITIH1_uc010hmo.1_Silent_p.D38D|ITIH1_uc003dfu.2_5'Flank	p.D484D	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	12	1476	+			484			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	c.1452T>C	CCDS2864.1																																																																																				0.562	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		22	44	0	0	0	0	22	44				
TMPRSS7	344805	broad.mit.edu	37	3	111794206	111794206	+	Missense_Mutation	SNP	G	G	C	rs371495741		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:111794206G>C	ENST00000452346.2	+	15	1825	c.1822G>C	c.(1822-1824)Gga>Cga	p.G608R	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.G482R			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	608	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCGCATCATCGGAGGCACAGA	0.552																																						uc010hqb.2		NA																	0				ovary(1)|kidney(1)	2						c.(1444-1446)GGA>CGA		transmembrane protease, serine 7							105.0	112.0	110.0					3																	111794206		1953	4158	6111	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111794206G>C	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1822G>C	3.37:g.111794206G>C	ENSP00000398236:p.Gly608Arg					TMPRSS7_uc011bhr.1_Missense_Mutation_p.G337R	p.G482R	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			13	1614	+			608			Extracellular (Potential).|Peptidase S1.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.1444G>C		.	.	.	.	.	.	.	.	.	.	G	17.93	3.510186	0.64522	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.69306	-0.39;-0.39	5.7	5.7	0.88788	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.86981	0.6064	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89576	0.3817	10	0.66056	D	0.02	.	18.5933	0.91222	0.0:0.0:1.0:0.0	.	608;482	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	R	608;596;582;482	ENSP00000398236:G608R;ENSP00000411645:G482R	ENSP00000411645:G482R	G	+	1	0	TMPRSS7	113276896	1.000000	0.71417	0.960000	0.40013	0.064000	0.16182	8.812000	0.91959	2.678000	0.91216	0.655000	0.94253	GGA		0.552	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		7	180	0	0	0	0	7	180				
CHST2	9435	broad.mit.edu	37	3	142841109	142841109	+	Missense_Mutation	SNP	G	G	A	rs201105723		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:142841109G>A	ENST00000309575.3	+	2	2835	c.1451G>A	c.(1450-1452)cGg>cAg	p.R484Q		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	484					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						AATGCCTGGCGGACCGCCCTC	0.612																																						uc003evm.2		NA																	0				ovary(3)	3						c.(1450-1452)CGG>CAG		carbohydrate (N-acetylglucosamine-6-O)							57.0	60.0	59.0					3																	142841109		2203	4300	6503	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142841109G>A	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1451G>A	3.37:g.142841109G>A	ENSP00000307911:p.Arg484Gln						p.R484Q	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN			2	2340	+			484			Lumenal (Potential).		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.1451G>A	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476241	0.84640	.	.	ENSG00000175040	ENST00000309575	D	0.83506	-1.73	4.61	4.61	0.57282	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.91680	0.7370	M	0.86953	2.85	0.49483	D	0.99979	D	0.76494	0.999	D	0.65573	0.936	D	0.93166	0.6562	10	0.66056	D	0.02	-14.5726	17.6361	0.88122	0.0:0.0:1.0:0.0	.	484	Q9Y4C5	CHST2_HUMAN	Q	484	ENSP00000307911:R484Q	ENSP00000307911:R484Q	R	+	2	0	CHST2	144323799	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.246000	0.95438	2.374000	0.81015	0.514000	0.50259	CGG		0.612	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		6	67	0	0	0	0	6	67				
TTC14	151613	broad.mit.edu	37	3	180322057	180322057	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:180322057G>A	ENST00000296015.4	+	4	663	c.531G>A	c.(529-531)ggG>ggA	p.G177G	TTC14_ENST00000412756.2_Silent_p.G177G|TTC14_ENST00000382584.4_Silent_p.G177G|RP11-496B10.3_ENST00000472596.1_lincRNA	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	177	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.						RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTAACCATGGGGATCCTTTAT	0.328																																						uc003fkk.2		NA																	0				ovary(1)	1						c.(529-531)GGG>GGA		tetratricopeptide repeat domain 14 isoform a							100.0	97.0	98.0					3																	180322057		2203	4300	6503	SO:0001819	synonymous_variant	151613						RNA binding	g.chr3:180322057G>A	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.531G>A	3.37:g.180322057G>A						TTC14_uc003fkl.2_Silent_p.G177G|TTC14_uc003fkm.2_Silent_p.G177G	p.G177G	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		4	663	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		177			S1 motif.		G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	37	c.531G>A	CCDS3237.1																																																																																				0.328	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		66	56	0	0	0	0	66	56				
XXYLT1	152002	broad.mit.edu	37	3	194947478	194947478	+	Silent	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:194947478G>A	ENST00000310380.6	-	2	720	c.612C>T	c.(610-612)atC>atT	p.I204I	XXYLT1_ENST00000429994.1_Silent_p.I58I	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	204						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										AGAGGAAGAAGATGGAGTCAC	0.537																																						uc003fum.3		NA																	0					0						c.(610-612)ATC>ATT		hypothetical protein LOC152002							115.0	118.0	117.0					3																	194947478		2078	4214	6292	SO:0001819	synonymous_variant	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194947478G>A	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.612C>T	3.37:g.194947478G>A						C3orf21_uc011bsw.1_Silent_p.I58I	p.I204I	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)	2	720	-	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		204					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Silent	SNP	ENST00000310380.6	37	c.612C>T	CCDS43188.1																																																																																				0.537	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		8	67	0	0	0	0	8	67				
RNF168	165918	broad.mit.edu	37	3	196199094	196199094	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr3:196199094C>G	ENST00000318037.3	-	6	1906	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	438					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TTATGTCTCTCAAACAGTAGA	0.413																																						uc003fwq.2		NA																	0					0						c.(1312-1314)GAG>CAG		ring finger protein 168							171.0	165.0	167.0					3																	196199094		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196199094C>G	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1312G>C	3.37:g.196199094C>G	ENSP00000320898:p.Glu438Gln					RNF168_uc010iah.2_Missense_Mutation_p.E271Q|uc010iag.1_5'Flank	p.E438Q	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	6	1850	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		438					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.1312G>C	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756798	0.69648	.	.	ENSG00000163961	ENST00000318037	T	0.10192	2.9	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000004	T	0.38134	0.1029	M	0.79475	2.455	0.47949	D	0.999552	D	0.89917	1.0	D	0.91635	0.999	T	0.01652	-1.1303	10	0.52906	T	0.07	-18.6202	20.2672	0.98462	0.0:1.0:0.0:0.0	.	438	Q8IYW5	RN168_HUMAN	Q	438	ENSP00000320898:E438Q	ENSP00000320898:E438Q	E	-	1	0	RNF168	197683491	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	5.182000	0.65059	2.894000	0.99253	0.591000	0.81541	GAG		0.413	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		48	195	0	0	0	0	48	195				
GUF1	60558	broad.mit.edu	37	4	44688655	44688655	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr4:44688655C>T	ENST00000281543.5	+	8	1057	c.863C>T	c.(862-864)tCt>tTt	p.S288F	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)									p.S288F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AAAATTGTATCTGCACATACT	0.363																																						uc003gww.3		NA																	1	Substitution - Missense(1)	p.S288F(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(862-864)TCT>TTT		GUF1 GTPase homolog							136.0	135.0	136.0					4																	44688655		2203	4299	6502	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44688655C>T		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.863C>T	4.37:g.44688655C>T	ENSP00000281543:p.Ser288Phe					GUF1_uc010ifz.1_RNA	p.S288F	NM_021927	NP_068746	Q8N442	GUF1_HUMAN			8	1070	+			288						Missense_Mutation	SNP	ENST00000281543.5	37	c.863C>T	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755447	0.69648	.	.	ENSG00000151806	ENST00000281543	T	0.61980	0.06	5.61	4.77	0.60923	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	L	0.28649	0.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65796	-0.6081	10	0.31617	T	0.26	-8.8153	13.7984	0.63186	0.0:0.9263:0.0:0.0737	.	288	Q8N442	GUF1_HUMAN	F	288	ENSP00000281543:S288F	ENSP00000281543:S288F	S	+	2	0	GUF1	44383412	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.776000	0.68924	1.384000	0.46424	0.585000	0.79938	TCT		0.363	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		15	90	0	0	0	0	15	90				
USP53	54532	broad.mit.edu	37	4	120213723	120213723	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr4:120213723C>T	ENST00000274030.6	+	19	3758	c.2579C>T	c.(2578-2580)tCt>tTt	p.S860F	USP53_ENST00000450251.1_Missense_Mutation_p.S860F	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AATGAACCATCTTCATTATGG	0.388																																						uc003ics.3		NA																	0				ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(2578-2580)TCT>TTT		ubiquitin specific protease 53							91.0	83.0	86.0					4																	120213723		1873	4104	5977	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120213723C>T	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.2579C>T	4.37:g.120213723C>T	ENSP00000274030:p.Ser860Phe					USP53_uc003icr.3_Missense_Mutation_p.S860F|USP53_uc003icu.3_Missense_Mutation_p.S483F	p.S860F	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN			18	3645	+			860						Missense_Mutation	SNP	ENST00000274030.6	37	c.2579C>T	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268677	0.59540	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.50548	0.74;0.74	5.2	4.35	0.52113	.	0.479290	0.21438	N	0.074540	T	0.60157	0.2247	M	0.61703	1.905	0.31997	N	0.603841	D	0.67145	0.996	P	0.57548	0.823	T	0.70575	-0.4834	10	0.72032	D	0.01	-10.391	13.6434	0.62265	0.1548:0.8452:0.0:0.0	.	860	Q70EK8	UBP53_HUMAN	F	860	ENSP00000274030:S860F;ENSP00000409906:S860F	ENSP00000274030:S860F	S	+	2	0	USP53	120433171	0.376000	0.25098	0.902000	0.35471	0.580000	0.36256	2.880000	0.48530	1.407000	0.46875	0.585000	0.79938	TCT		0.388	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		18	42	0	0	0	0	18	42				
FAT4	79633	broad.mit.edu	37	4	126240974	126240974	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr4:126240974G>C	ENST00000394329.3	+	1	3421	c.3408G>C	c.(3406-3408)agG>agC	p.R1136S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1136	Cadherin 11. {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						GAGAAGTAAGGTATTCTTTTG	0.433																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(3406-3408)AGG>AGC		FAT tumor suppressor homolog 4 precursor							172.0	171.0	171.0					4																	126240974		1886	4125	6011	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240974G>C	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.3408G>C	4.37:g.126240974G>C	ENSP00000377862:p.Arg1136Ser						p.R1136S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	3408	+			1136			Cadherin 11.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.3408G>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	1.431	-0.570197	0.03910	.	.	ENSG00000196159	ENST00000394329	T	0.51325	0.71	4.87	3.15	0.36227	Cadherin (4);Cadherin-like (1);	0.000000	0.38217	U	0.001765	T	0.43322	0.1242	N	0.17278	0.47	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.38564	-0.9655	10	0.05833	T	0.94	.	9.4446	0.38690	0.2297:0.0:0.7703:0.0	.	1136	Q6V0I7	FAT4_HUMAN	S	1136	ENSP00000377862:R1136S	ENSP00000377862:R1136S	R	+	3	2	FAT4	126460424	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.472000	0.35376	0.659000	0.30945	-0.448000	0.05591	AGG		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		29	131	0	0	0	0	29	131				
KIAA0922	23240	broad.mit.edu	37	4	154542878	154542878	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr4:154542878G>C	ENST00000409663.3	+	28	3785	c.3733G>C	c.(3733-3735)Gag>Cag	p.E1245Q	KIAA0922_ENST00000409959.3_Missense_Mutation_p.E1246Q|KIAA0922_ENST00000440693.1_Missense_Mutation_p.E1162Q	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1245						integral component of membrane (GO:0016021)		p.E1098Q(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CAGTGACTTTGAGAGGTCTGA	0.428																																						uc003inm.3		NA																	1	Substitution - Missense(1)	p.E1098Q(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(3733-3735)GAG>CAG		hypothetical protein LOC23240 isoform 2							148.0	138.0	142.0					4																	154542878		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154542878G>C	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3733G>C	4.37:g.154542878G>C	ENSP00000386574:p.Glu1245Gln					KIAA0922_uc010ipp.2_Missense_Mutation_p.E1246Q|KIAA0922_uc010ipq.2_Missense_Mutation_p.E1014Q	p.E1245Q	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			28	3785	+	all_hematologic(180;0.093)	Renal(120;0.118)	1245			Cytoplasmic (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.3733G>C	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717260	0.30413	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.28895	1.91;1.59;1.9;1.6	5.13	4.29	0.51040	.	0.334494	0.31784	N	0.007080	T	0.47040	0.1424	L	0.52573	1.65	0.20563	N	0.999887	D;D;D	0.71674	0.998;0.996;0.992	D;P;P	0.65684	0.937;0.772;0.597	T	0.38023	-0.9680	10	0.62326	D	0.03	-4.9263	13.561	0.61788	0.0753:0.0:0.9247:0.0	.	1162;1246;1245	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	Q	1245;1162;1246;1023	ENSP00000386574:E1245Q;ENSP00000409663:E1162Q;ENSP00000386787:E1246Q;ENSP00000240487:E1023Q	ENSP00000240487:E1023Q	E	+	1	0	KIAA0922	154762328	1.000000	0.71417	0.003000	0.11579	0.492000	0.33523	6.592000	0.74095	1.158000	0.42547	-0.136000	0.14681	GAG		0.428	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		7	27	0	0	0	0	7	27				
ATG10	83734	broad.mit.edu	37	5	81549160	81549160	+	Silent	SNP	G	G	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:81549160G>C	ENST00000282185.3	+	7	873	c.579G>C	c.(577-579)ctG>ctC	p.L193L	ATG10_ENST00000514253.2_Intron|ATG10_ENST00000458350.3_Silent_p.L193L	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	193					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		CATCATGGCTGAGCATTGTAG	0.413																																						uc003khs.2		NA																	0					0						c.(577-579)CTG>CTC		APG10 autophagy 10-like							171.0	148.0	156.0					5																	81549160		2203	4300	6503	SO:0001819	synonymous_variant	83734				autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding	g.chr5:81549160G>C	AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"""APG10 autophagy 10-like (S. cerevisiae)"", ""ATG10 autophagy related 10 homolog (S. cerevisiae)"""	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.579G>C	5.37:g.81549160G>C						ATG10_uc003khr.2_Silent_p.L193L|ATG10_uc010jas.2_Silent_p.L157L	p.L193L	NM_001131028	NP_001124500	Q9H0Y0	ATG10_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)	8	1008	+		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)	193					B2RE09|Q6PIX1|Q9H842	Silent	SNP	ENST00000282185.3	37	c.579G>C	CCDS4057.1																																																																																				0.413	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239252.2	NM_001131028		14	57	0	0	0	0	14	57				
IL3	3562	broad.mit.edu	37	5	131398259	131398259	+	Splice_Site	SNP	C	C	T	rs200006770		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:131398259C>T	ENST00000296870.2	+	4	513	c.335C>T	c.(334-336)aCg>aTg	p.T112M		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	112					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	GCCGCACCCACggtaagctgt	0.562											OREG0016762	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003kwe.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(334-336)ACG>ATG		interleukin 3 precursor	Amlexanox(DB01025)						197.0	194.0	195.0					5																	131398259		2203	4300	6503	SO:0001630	splice_region_variant	3562				cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding	g.chr5:131398259C>T	M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"""Interleukins and interleukin receptors"""	6011	protein-coding gene	gene with protein product	"""multilineage-colony-stimulating factor"", ""hematopoietic growth factor"", ""P-cell stimulating factor"", ""mast-cell growth factor"", ""colony-stimulating factor, multiple"""	147740	"""interleukin 3 (colony-stimulating factor, multiple)"""			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.336+1C>T	5.37:g.131398259C>T			OREG0016762	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1587		p.T112M	NM_000588	NP_000579	P08700	IL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	4	388	+		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	112					Q6GS87	Missense_Mutation	SNP	ENST00000296870.2	37	c.335C>T	CCDS4149.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623530	0.46840	.	.	ENSG00000164399	ENST00000296870	T	0.32023	1.47	4.38	-7.77	0.01227	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	4.049800	0.00424	N	0.000075	T	0.15003	0.0362	N	0.19112	0.55	0.09310	N	0.999998	B	0.14012	0.009	B	0.13407	0.009	T	0.09773	-1.0659	10	0.30854	T	0.27	-0.2776	1.4958	0.02466	0.2372:0.2113:0.1042:0.4473	.	112	P08700	IL3_HUMAN	M	112	ENSP00000296870:T112M	ENSP00000296870:T112M	T	+	2	0	IL3	131426158	0.000000	0.05858	0.000000	0.03702	0.274000	0.26718	-4.815000	0.00182	-1.782000	0.01275	-0.126000	0.14955	ACG		0.562	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132639.1	NM_000588	Missense_Mutation	27	137	0	0	0	0	27	137				
PCDHB8	56128	broad.mit.edu	37	5	140559041	140559041	+	Missense_Mutation	SNP	G	G	A	rs200499897		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:140559041G>A	ENST00000239444.2	+	1	1671	c.1426G>A	c.(1426-1428)Gcc>Acc	p.A476T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	476	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(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)			CAGCGTCAGCGCCACAGACAG	0.657																																						uc011dai.1		NA																	0				skin(4)	4						c.(1426-1428)GCC>ACC		protocadherin beta 8 precursor							78.0	121.0	106.0					5																	140559041		2203	4293	6496	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559041G>A	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.1426G>A	5.37:g.140559041G>A	ENSP00000239444:p.Ala476Thr					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.A476T	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1612	+			476			Cadherin 5.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1426G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814951	0.90790	.	.	ENSG00000120322	ENST00000239444	T	0.61392	0.11	4.26	4.26	0.50523	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.82852	0.5127	H	0.95187	3.635	0.49299	D	0.999774	D	0.89917	1.0	D	0.97110	1.0	D	0.89018	0.3433	9	0.87932	D	0	.	16.3029	0.82831	0.0:0.0:1.0:0.0	.	476	Q9UN66	PCDB8_HUMAN	T	476	ENSP00000239444:A476T	ENSP00000239444:A476T	A	+	1	0	PCDHB8	140539225	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.596000	0.82721	1.920000	0.55613	0.305000	0.20034	GCC		0.657	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		18	122	0	0	0	0	18	122				
PCDHGA6	56109	broad.mit.edu	37	5	140755613	140755613	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:140755613T>G	ENST00000517434.1	+	1	1963	c.1963T>G	c.(1963-1965)Tcc>Gcc	p.S655A	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	655	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)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCCTCTCTCCGCCACTGT	0.706																																						uc003ljy.1		NA																	0				breast(1)	1						c.(1963-1965)TCC>GCC		protocadherin gamma subfamily A, 6 isoform 1							24.0	32.0	29.0					5																	140755613		2174	4258	6432	SO:0001583	missense	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140755613T>G	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.1963T>G	5.37:g.140755613T>G	ENSP00000429601:p.Ser655Ala					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.S655A	p.S655A	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1963	+			655			Extracellular (Potential).|Cadherin 6.		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.1963T>G	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	19.39	3.819259	0.71028	.	.	ENSG00000253731	ENST00000517434	T	0.54675	0.56	4.67	4.67	0.58626	Cadherin (4);Cadherin-like (1);	0.000000	0.29321	U	0.012495	T	0.77405	0.4125	M	0.91354	3.2	0.30813	N	0.738647	D;D	0.76494	0.999;0.997	D;D	0.77557	0.986;0.99	T	0.81404	-0.0948	10	0.87932	D	0	.	14.5643	0.68165	0.0:0.0:0.0:1.0	.	655;655	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	A	655	ENSP00000429601:S655A	ENSP00000429601:S655A	S	+	1	0	PCDHGA6	140735797	1.000000	0.71417	0.991000	0.47740	0.794000	0.44872	5.010000	0.64004	2.078000	0.62432	0.460000	0.39030	TCC		0.706	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		11	33	0	0	0	0	11	33				
PCDHGA7	56108	broad.mit.edu	37	5	140764535	140764535	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:140764535C>T	ENST00000518325.1	+	1	2069	c.2069C>T	c.(2068-2070)aCg>aTg	p.T690M	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	690					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGACCTCACGTTGTACCTG	0.632																																						uc003lka.1		NA																	0					0						c.(2068-2070)ACG>ATG		protocadherin gamma subfamily A, 7 isoform 1							65.0	71.0	69.0					5																	140764535		2203	4300	6503	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140764535C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2069C>T	5.37:g.140764535C>T	ENSP00000430024:p.Thr690Met					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|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Missense_Mutation_p.T690M|PCDHGB4_uc011dav.1_5'Flank	p.T690M	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2069	+			690			Extracellular (Potential).		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.2069C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	10.30	1.312125	0.23821	.	.	ENSG00000253537	ENST00000518325	T	0.54866	0.55	4.93	4.05	0.47172	.	.	.	.	.	T	0.77545	0.4146	H	0.96889	3.9	0.23156	N	0.998206	D;D	0.76494	0.999;0.991	P;P	0.58577	0.792;0.841	T	0.72007	-0.4420	9	0.87932	D	0	.	11.0723	0.48010	0.1286:0.7982:0.0:0.0732	.	690;690	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	M	690	ENSP00000430024:T690M	ENSP00000430024:T690M	T	+	2	0	PCDHGA7	140744719	0.991000	0.36638	0.214000	0.23707	0.007000	0.05969	2.980000	0.49321	0.606000	0.29965	-1.119000	0.02030	ACG		0.632	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		27	27	0	0	0	0	27	27				
GABRG2	2566	broad.mit.edu	37	5	161569195	161569195	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:161569195C>G	ENST00000361925.4	+	7	1015	c.795C>G	c.(793-795)taC>taG	p.Y265*	GABRG2_ENST00000414552.2_Nonsense_Mutation_p.Y305*|GABRG2_ENST00000393933.4_Nonsense_Mutation_p.Y170*|GABRG2_ENST00000356592.3_Nonsense_Mutation_p.Y265*			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	265					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|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)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGTCTGTCTACTTTGATCTGA	0.403																																						uc003lyz.3		NA																	0				ovary(4)|skin(1)	5						c.(793-795)TAC>TAG		gamma-aminobutyric acid A receptor, gamma 2							309.0	275.0	286.0					5																	161569195		2203	4300	6503	SO:0001587	stop_gained	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161569195C>G		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.795C>G	5.37:g.161569195C>G	ENSP00000354651:p.Tyr265*					GABRG2_uc010jjc.2_Nonsense_Mutation_p.Y305*|GABRG2_uc003lyy.3_Nonsense_Mutation_p.Y265*|GABRG2_uc011dej.1_Nonsense_Mutation_p.Y170*	p.Y265*	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	7	1153	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	265			Extracellular (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Nonsense_Mutation	SNP	ENST00000361925.4	37	c.795C>G	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	39	7.638721	0.98406	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	.	.	.	5.87	4.99	0.66335	.	0.106105	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2177	0.65805	0.0:0.9268:0.0:0.0732	.	.	.	.	X	265;305;265;170;170	.	ENSP00000349000:Y265X	Y	+	3	2	GABRG2	161501773	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.051000	0.49885	1.448000	0.47680	0.655000	0.94253	TAC		0.403	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			4	128	0	0	0	0	4	128				
WWC1	23286	broad.mit.edu	37	5	167896016	167896016	+	Silent	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:167896016C>T	ENST00000265293.4	+	23	3838	c.3336C>T	c.(3334-3336)gaC>gaT	p.D1112D	WWC1_ENST00000521089.1_Silent_p.D1118D	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	1112	Interaction with histone H3.				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)		CTGCAGATGACGTCTAATCGC	0.453																																						uc003lzu.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(3334-3336)GAC>GAT		WW and C2 domain containing 1 isoform 3							110.0	101.0	104.0					5																	167896016		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.chr5:167896016C>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.3336C>T	5.37:g.167896016C>T						WWC1_uc003lzv.2_Silent_p.D1117D|WWC1_uc011den.1_Silent_p.D1118D|WWC1_uc003lzw.2_Silent_p.D910D	p.D1112D	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)	23	3429	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	1112			ADDV motif.|Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.3336C>T	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	7.782	0.709767	0.15239	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	5.72	0.87	0.19102	.	.	.	.	.	T	0.58177	0.2104	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53315	-0.8456	4	.	.	.	.	10.216	0.43168	0.0:0.5058:0.0:0.4942	.	.	.	.	C	1079;888	.	.	R	+	1	0	WWC1	167828594	0.099000	0.21834	1.000000	0.80357	0.964000	0.63967	-0.573000	0.05874	0.354000	0.24105	-0.217000	0.12591	CGT		0.453	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		8	24	0	0	0	0	8	24				
GRM6	2916	broad.mit.edu	37	5	178416069	178416069	+	Silent	SNP	C	C	T	rs544297690		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr5:178416069C>T	ENST00000517717.1	-	7	1259	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	GRM6_ENST00000231188.5_Silent_p.A407A|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	407					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.A407A(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)		TGGCGTACACCGCATCAATCA	0.647																																						uc003mjr.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(1219-1221)GCG>GCA		glutamate receptor, metabotropic 6 precursor							150.0	128.0	135.0					5																	178416069		2203	4300	6503	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178416069C>T	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.1221G>A	5.37:g.178416069C>T						GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Silent_p.A27A	p.A407A	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)	6	1400	-	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)	407			Extracellular (Potential).			Silent	SNP	ENST00000517717.1	37	c.1221G>A	CCDS4442.1																																																																																				0.647	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			4	17	0	0	0	0	4	17				
GRM4	2914	broad.mit.edu	37	6	34101144	34101144	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr6:34101144G>A	ENST00000538487.2	-	2	573	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000374181.4_Missense_Mutation_p.R44C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	44					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R44C(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCATCTATGCGGATGGAATTC	0.612																																						uc003oir.3		NA																	2	Substitution - Missense(2)	p.R44C(2)	upper_aerodigestive_tract(2)	lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(130-132)CGC>TGC		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						43.0	38.0	40.0					6																	34101144		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34101144G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.130C>T	6.37:g.34101144G>A	ENSP00000440556:p.Arg44Cys					GRM4_uc011dsn.1_Missense_Mutation_p.R44C|GRM4_uc010jvh.2_Missense_Mutation_p.R44C|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_Intron	p.R44C	NM_000841	NP_000832	Q14833	GRM4_HUMAN			1	300	-			44			Extracellular (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.130C>T	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639182	0.67244	.	.	ENSG00000124493	ENST00000374181;ENST00000538487	T;T	0.72942	-0.7;-0.7	4.19	4.19	0.49359	.	0.072106	0.53938	N	0.000049	T	0.74222	0.3688	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.63703	0.917;0.719	T	0.74902	-0.3506	10	0.45353	T	0.12	.	11.8452	0.52381	0.0:0.0:0.8248:0.1752	.	44;44	B7ZLU9;Q14833	.;GRM4_HUMAN	C	44	ENSP00000363296:R44C;ENSP00000440556:R44C	ENSP00000363296:R44C	R	-	1	0	GRM4	34209122	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.607000	0.46300	2.335000	0.79485	0.467000	0.42956	CGC		0.612	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			9	27	0	0	0	0	9	27				
GPR116	221395	broad.mit.edu	37	6	46846093	46846093	+	Silent	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr6:46846093C>T	ENST00000283296.7	-	10	1374	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	GPR116_ENST00000265417.7_Silent_p.K362K|GPR116_ENST00000456426.2_Intron|GPR116_ENST00000362015.4_Silent_p.K362K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	362	Ig-like 1.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTATTTTCTTCTTGCACTCAT	0.328																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1084-1086)AAG>AAA		G-protein coupled receptor 116 precursor							100.0	91.0	94.0					6																	46846093		2202	4300	6502	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46846093C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1086G>A	6.37:g.46846093C>T						GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Silent_p.K362K|GPR116_uc010jzi.1_Silent_p.K34K|GPR116_uc003oyr.2_Silent_p.K362K	p.K362K	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		10	1375	-			362			Ig-like 1.|Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.1086G>A	CCDS4919.1																																																																																				0.328	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		9	35	0	0	0	0	9	35				
HCRTR2	3062	broad.mit.edu	37	6	55113499	55113499	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr6:55113499C>G	ENST00000370862.3	+	2	622	c.286C>G	c.(286-288)Ctt>Gtt	p.L96V		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	96					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.L96V(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATAGTCAATCTTTCTCTGGC	0.458																																						uc003pcl.2		NA																	2	Substitution - Missense(2)	p.L96V(2)	upper_aerodigestive_tract(1)|lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(286-288)CTT>GTT		orexin receptor 2							233.0	209.0	217.0					6																	55113499		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113499C>G	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.286C>G	6.37:g.55113499C>G	ENSP00000359899:p.Leu96Val					HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.L31V	p.L96V	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	601	+	Lung NSC(77;0.107)|Renal(3;0.122)		96			Helical; Name=2; (Potential).		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.286C>G	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420096	0.83559	.	.	ENSG00000137252	ENST00000370862	D	0.91180	-2.8	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96738	0.8935	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.994;1.0	D	0.97953	1.0333	10	0.87932	D	0	.	18.2553	0.90017	0.0:1.0:0.0:0.0	.	96;96	Q548Y0;O43614	.;OX2R_HUMAN	V	96	ENSP00000359899:L96V	ENSP00000359899:L96V	L	+	1	0	HCRTR2	55221458	1.000000	0.71417	0.953000	0.39169	0.949000	0.60115	7.445000	0.80570	2.373000	0.80994	0.650000	0.86243	CTT		0.458	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			76	95	0	0	0	0	76	95				
AP5Z1	9907	broad.mit.edu	37	7	4825265	4825265	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:4825265C>T	ENST00000348624.4	+	9	1176	c.1082C>T	c.(1081-1083)cCg>cTg	p.P361L	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000401897.1_Missense_Mutation_p.P361L	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	361					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											CGCGGGGACCCGGCCTCTGTG	0.697																																						uc003sne.2		NA																	0				central_nervous_system(1)	1						c.(1081-1083)CCG>CTG		hypothetical protein LOC9907							11.0	13.0	12.0					7																	4825265		2082	4193	6275	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4825265C>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1082C>T	7.37:g.4825265C>T	ENSP00000297562:p.Pro361Leu					KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_5'Flank	p.P361L	NM_014855	NP_055670	O43299	K0415_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)	9	1165	+		Ovarian(82;0.0175)	361					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.1082C>T	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	c	2.515	-0.312107	0.05422	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.39592	1.07;1.07	5.47	2.59	0.31030	.	0.407474	0.27306	N	0.019973	T	0.14141	0.0342	N	0.03050	-0.425	0.21473	N	0.999677	B	0.14438	0.01	B	0.08055	0.003	T	0.22034	-1.0228	10	0.10902	T	0.67	.	4.9428	0.13975	0.1281:0.6253:0.125:0.1216	.	361	O43299	K0415_HUMAN	L	361	ENSP00000297562:P361L;ENSP00000384980:P361L	ENSP00000297562:P361L	P	+	2	0	KIAA0415	4791791	0.371000	0.25056	0.150000	0.22450	0.618000	0.37518	1.240000	0.32731	1.267000	0.44247	0.556000	0.70494	CCG		0.697	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			5	2	0	0	0	0	5	2				
FBXL18	80028	broad.mit.edu	37	7	5540952	5540952	+	Silent	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:5540952C>T	ENST00000382368.3	-	3	1071	c.948G>A	c.(946-948)ccG>ccA	p.P316P	FBXL18_ENST00000453700.3_Silent_p.P316P	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	316									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TGAAGTAGAACGGGTTGTTGA	0.597																																						uc003soo.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(946-948)CCG>CCA		F-box and leucine-rich repeat protein 18							45.0	51.0	49.0					7																	5540952		2078	4208	6286	SO:0001819	synonymous_variant	80028							g.chr7:5540952C>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.948G>A	7.37:g.5540952C>T						FBXL18_uc003son.3_Silent_p.P316P	p.P316P	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	1042	-		Ovarian(82;0.0607)	316					Q9BR90|Q9BTC7|Q9HAK7	Silent	SNP	ENST00000382368.3	37	c.948G>A	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	C	5.565	0.289107	0.10513	.	.	ENSG00000155034	ENST00000458142	.	.	.	5.13	-3.99	0.04069	.	.	.	.	.	T	0.39410	0.1077	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35201	-0.9798	4	.	.	.	.	3.0668	0.06217	0.1417:0.4198:0.1783:0.2602	.	.	.	.	H	200	.	.	R	-	2	0	FBXL18	5507478	0.002000	0.14202	0.950000	0.38849	0.989000	0.77384	-1.218000	0.02976	-0.596000	0.05821	-0.145000	0.13849	CGT		0.597	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		12	15	0	0	0	0	12	15				
PCLO	27445	broad.mit.edu	37	7	82579315	82579315	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:82579315G>A	ENST00000333891.9	-	6	10926	c.10589C>T	c.(10588-10590)cCa>cTa	p.P3530L	PCLO_ENST00000437081.1_Missense_Mutation_p.P250L|PCLO_ENST00000423517.2_Missense_Mutation_p.P3530L	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						GGTTCCAACTGGTTCAGTTTG	0.463																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(10588-10590)CCA>CTA		piccolo isoform 1							141.0	125.0	130.0					7																	82579315		1925	4127	6052	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.chr7:82579315G>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.10589C>T	7.37:g.82579315G>A	ENSP00000334319:p.Pro3530Leu					PCLO_uc003uhv.2_Missense_Mutation_p.P3530L|PCLO_uc010lec.2_Missense_Mutation_p.P495L	p.P3530L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	10878	-			3461						Missense_Mutation	SNP	ENST00000333891.9	37	c.10589C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177399	0.38413	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.32023	2.22;2.23;1.47	5.61	5.61	0.85477	.	.	.	.	.	T	0.51176	0.1659	M	0.66939	2.045	0.52099	D	0.99994	P;D;D	0.55800	0.844;0.973;0.973	B;P;P	0.56088	0.386;0.791;0.791	T	0.52601	-0.8554	9	0.87932	D	0	.	19.6349	0.95726	0.0:0.0:1.0:0.0	.	3461;3530;3530	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	L	3461;3530;3530;250	ENSP00000334319:P3530L;ENSP00000388393:P3530L;ENSP00000393760:P250L	ENSP00000334319:P3530L	P	-	2	0	PCLO	82417251	1.000000	0.71417	0.943000	0.38184	0.984000	0.73092	4.885000	0.63142	2.632000	0.89209	0.655000	0.94253	CCA		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	21	0	0	0	0	13	21				
COL1A2	1278	broad.mit.edu	37	7	94056511	94056511	+	Silent	SNP	T	T	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:94056511T>C	ENST00000297268.6	+	48	3642	c.3171T>C	c.(3169-3171)ggT>ggC	p.G1057G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1057					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)	GCCCTGCTGGTCCTTCTGGCC	0.587										HNSCC(75;0.22)																												uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	GRCh37	CD090283	COL1A2	D		c.(3169-3171)GGT>GGC		alpha 2 type I collagen precursor	Collagenase(DB00048)						75.0	70.0	72.0					7																	94056511		2203	4300	6503	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.chr7:94056511T>C	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.3171T>C	7.37:g.94056511T>C		HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.G1057G	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		48	3642	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1057					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.3171T>C	CCDS34682.1																																																																																				0.587	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		7	12	0	0	0	0	7	12				
CYP3A4	1576	broad.mit.edu	37	7	99364768	99364768	+	Missense_Mutation	SNP	C	C	T	rs199908125		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:99364768C>T	ENST00000336411.2	-	8	967	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	CYP3A4_ENST00000354593.2_Missense_Mutation_p.E112K|RP11-757A13.1_ENST00000608397.1_RNA	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	262					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|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)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	TGTGTATCTTCGAGGCGACTT	0.308													C|||	1	0.000199681	0.0	0.0	5008	,	,		18181	0.0		0.001	False		,,,				2504	0.0					uc003urv.1		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(784-786)GAA>AAA		cytochrome P450, family 3, subfamily A,	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						132.0	130.0	130.0					7																	99364768		2203	4300	6503	SO:0001583	missense	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|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|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99364768C>T	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.784G>A	7.37:g.99364768C>T	ENSP00000337915:p.Glu262Lys					CYP3A4_uc003urw.1_Missense_Mutation_p.E261K|CYP3A4_uc011kiz.1_Missense_Mutation_p.E221K|CYP3A4_uc011kja.1_Missense_Mutation_p.E213K|CYP3A4_uc011kjb.1_Missense_Mutation_p.E112K	p.E262K	NM_017460	NP_059488	P08684	CP3A4_HUMAN			8	888	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		262					P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.784G>A	CCDS5674.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.517	-0.863780	0.02590	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.68331	-0.32;-0.32	4.03	-2.66	0.06077	.	0.585786	0.18000	N	0.154922	T	0.24353	0.0590	N	0.01086	-1.025	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.41142	-0.9525	10	0.02654	T	1	.	6.6281	0.22841	0.0:0.0937:0.4522:0.4541	.	112;189;262;262;262	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	K	112;262	ENSP00000346607:E112K;ENSP00000337915:E262K	ENSP00000337915:E262K	E	-	1	0	CYP3A4	99202704	0.000000	0.05858	0.264000	0.24511	0.285000	0.27093	-0.560000	0.05964	-0.247000	0.09597	-1.893000	0.00533	GAA		0.308	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1			16	33	0	0	0	0	16	33				
EPHB4	2050	broad.mit.edu	37	7	100403272	100403272	+	Silent	SNP	T	T	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:100403272T>G	ENST00000358173.3	-	15	2997	c.2529A>C	c.(2527-2529)ccA>ccC	p.P843P	EPHB4_ENST00000360620.3_Silent_p.P843P	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	843	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGGGACAGTCTGGGGGCGGGG	0.607																																					GBM(200;2113 3072 25865 52728)	uc003uwn.1		NA																	0				lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15						c.(2527-2529)CCA>CCC		EPH receptor B4 precursor							54.0	63.0	60.0					7																	100403272		2203	4300	6503	SO:0001819	synonymous_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100403272T>G	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2529A>C	7.37:g.100403272T>G						EPHB4_uc003uwm.1_Silent_p.P750P|EPHB4_uc010lhj.1_Silent_p.P843P	p.P843P	NM_004444	NP_004435	P54760	EPHB4_HUMAN			15	3020	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		843			Cytoplasmic (Potential).|Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	c.2529A>C	CCDS5706.1																																																																																				0.607	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		7	96	0	0	0	0	7	96				
PTN	5764	broad.mit.edu	37	7	136938277	136938277	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr7:136938277C>G	ENST00000348225.2	-	3	650	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	PTN_ENST00000393083.2_Missense_Mutation_p.E75Q	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	75				E -> G (in Ref. 9; AAV38498). {ECO:0000305}.	bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)	p.E75Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TGCTTGCACTCAGCTCCAGTC	0.537																																						uc003vtq.2		NA																	1	Substitution - Missense(1)	p.E75Q(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(223-225)GAG>CAG		pleiotrophin							136.0	113.0	121.0					7																	136938277		2203	4300	6503	SO:0001583	missense	5764				nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	g.chr7:136938277C>G	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.223G>C	7.37:g.136938277C>G	ENSP00000341170:p.Glu75Gln					PTN_uc010lmx.2_Missense_Mutation_p.E75Q|PTN_uc003vtr.1_Missense_Mutation_p.E75Q	p.E75Q	NM_002825	NP_002816	P21246	PTN_HUMAN			3	586	-			75	E -> G (in Ref. 9; AAV38498).				Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	ENST00000348225.2	37	c.223G>C	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529833	0.64860	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	5.65	4.76	0.60689	Midkine heparin-binding growth factor, N-terminal (3);Midkine heparin-binding growth factor, disulphide-rich domain (1);	0.097855	0.64402	D	0.000001	T	0.35799	0.0944	N	0.08118	0	0.47511	D	0.999445	B;P	0.43287	0.136;0.802	B;B	0.39562	0.081;0.303	T	0.42189	-0.9466	9	0.59425	D	0.04	-35.0231	16.5996	0.84810	0.0:0.8697:0.1303:0.0	.	75;75	C9JR52;P21246	.;PTN_HUMAN	Q	75	.	ENSP00000341170:E75Q	E	-	1	0	PTN	136588817	1.000000	0.71417	0.980000	0.43619	0.816000	0.46133	7.764000	0.85297	1.361000	0.45981	0.585000	0.79938	GAG		0.537	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825		11	53	0	0	0	0	11	53				
CSMD1	64478	broad.mit.edu	37	8	3611465	3611465	+	Silent	SNP	G	G	A	rs371487624		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr8:3611465G>A	ENST00000520002.1	-	6	1473	c.918C>T	c.(916-918)aaC>aaT	p.N306N	CSMD1_ENST00000602723.1_Silent_p.N306N|CSMD1_ENST00000400186.3_Silent_p.N306N|CSMD1_ENST00000542608.1_Silent_p.N306N|CSMD1_ENST00000602557.1_Silent_p.N306N|CSMD1_ENST00000539096.1_Silent_p.N306N|CSMD1_ENST00000537824.1_Silent_p.N306N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	306	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)		GGAACTGAGCGTTAAATCCTT	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		15370	0.0		0.0	False		,,,				2504	0.001					uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(916-918)AAC>AAT		CUB and Sushi multiple domains 1 precursor		G		1,3685		0,1,1842	98.0	93.0	95.0		918	-12.0	0.0	8		95	1,8169		0,1,4084	no	coding-synonymous	CSMD1	NM_033225.5		0,2,5926	AA,AG,GG		0.0122,0.0271,0.0169		306/3565	3611465	2,11854	1843	4085	5928	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3611465G>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.918C>T	8.37:g.3611465G>A							p.N306N	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)	6	1308	-		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)	306			Extracellular (Potential).|CUB 2.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.918C>T																																																																																					0.418	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		19	8	0	0	0	0	19	8				
MTUS1	57509	broad.mit.edu	37	8	17611496	17611496	+	Silent	SNP	G	G	T	rs375815032	byFrequency	TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr8:17611496G>T	ENST00000262102.6	-	2	2045	c.1821C>A	c.(1819-1821)gcC>gcA	p.A607A	MTUS1_ENST00000381869.3_Silent_p.A607A|MTUS1_ENST00000381862.3_Silent_p.A607A|MTUS1_ENST00000519263.1_Silent_p.A607A	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	607					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A607A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCGATTTCACGGCAGATGTTG	0.433																																						uc003wxv.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1819-1821)GCC>GCA		mitochondrial tumor suppressor 1 isoform 1							176.0	164.0	168.0					8																	17611496		1897	4117	6014	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611496G>T	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1821C>A	8.37:g.17611496G>T						MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.A607A|MTUS1_uc010lsz.2_Silent_p.A607A	p.A607A	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2295	-			607					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.1821C>A	CCDS43717.1																																																																																				0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		109	35	1	0	4.07e-57	4.87e-57	109	35				
ADCY8	114	broad.mit.edu	37	8	131880186	131880186	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr8:131880186G>C	ENST00000286355.5	-	9	4208	c.2116C>G	c.(2116-2118)Caa>Gaa	p.Q706E	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	706					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)			TCCCTCATTTGAGAATACTGT	0.358										HNSCC(32;0.087)																												uc003ytd.3		NA																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2116-2118)CAA>GAA		adenylate cyclase 8							72.0	67.0	68.0					8																	131880186		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.chr8:131880186G>C	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.2116C>G	8.37:g.131880186G>C	ENSP00000286355:p.Gln706Glu	HNSCC(32;0.087)				ADCY8_uc010mds.2_Intron	p.Q706E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		9	2372	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		706			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.2116C>G	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025482	0.75390	.	.	ENSG00000155897	ENST00000286355	T	0.42513	0.97	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	L	0.57536	1.79	0.80722	D	1	P	0.44195	0.828	P	0.47251	0.542	T	0.24764	-1.0151	10	0.10377	T	0.69	.	17.776	0.88508	0.0:0.0:1.0:0.0	.	706	P40145	ADCY8_HUMAN	E	706	ENSP00000286355:Q706E	ENSP00000286355:Q706E	Q	-	1	0	ADCY8	131949368	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.946000	0.92992	2.806000	0.96561	0.655000	0.94253	CAA		0.358	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			19	61	0	0	0	0	19	61				
TG	7038	broad.mit.edu	37	8	133978854	133978854	+	Silent	SNP	C	C	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr8:133978854C>A	ENST00000220616.4	+	30	5638	c.5598C>A	c.(5596-5598)gtC>gtA	p.V1866V	TG_ENST00000377869.1_Silent_p.V1809V|TG_ENST00000519543.1_Silent_p.V20V|TG_ENST00000542445.1_Silent_p.V236V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1866					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)		AGGTCATTGTCAATGGAAATC	0.453																																						uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(5596-5598)GTC>GTA		thyroglobulin precursor							105.0	96.0	99.0					8																	133978854		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133978854C>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.5598C>A	8.37:g.133978854C>A						TG_uc010mdw.2_Silent_p.V625V|TG_uc011ljb.1_Silent_p.V235V|TG_uc011ljc.1_Silent_p.V20V|TG_uc010mdx.1_Intron	p.V1866V	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	30	5639	+	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)	1866			Type IIIB.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.5598C>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	3.962	-0.010186	0.07727	.	.	ENSG00000042832	ENST00000519178	.	.	.	5.79	-0.243	0.13035	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.21184	N	0.999761	.	.	.	.	.	.	T	0.24728	-1.0152	4	.	.	.	.	3.2032	0.06657	0.1646:0.2878:0.4293:0.1183	.	.	.	.	K	322	.	.	Q	+	1	0	TG	134048036	0.000000	0.05858	0.002000	0.10522	0.084000	0.17831	-0.620000	0.05565	0.213000	0.20722	-0.331000	0.08364	CAA		0.453	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		47	96	1	0	3.22e-24	3.82e-24	47	96				
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		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.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(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)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	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	CM940227	CDKN2A	M	rs121913387	c.(172-174)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							7.0	9.0	8.0					9																	21971186		2034	4092	6126	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.chr9:21971186G>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.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	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.P113L	p.R58*	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	384	-		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)	58			ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		10	1	0	0	0	0	10	1				
SPATA31D1	389763	broad.mit.edu	37	9	84608276	84608276	+	Missense_Mutation	SNP	G	G	A	rs367962212		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:84608276G>A	ENST00000344803.2	+	4	2938	c.2891G>A	c.(2890-2892)cGt>cAt	p.R964H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	964					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCTAAGTCCCGTAGTCGAAGC	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18209	0.0		0.0	False		,,,				2504	0.0					uc004amn.2		NA																	0					0						c.(2890-2892)CGT>CAT		hypothetical protein LOC389763		G	HIS/ARG	0,3800		0,0,1900	103.0	101.0	101.0		2891	-4.6	0.0	9		101	1,8259		0,1,4129	no	missense	FAM75D1	NM_001001670.2	29	0,1,6029	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	964/1577	84608276	1,12059	1900	4130	6030	SO:0001583	missense	389763					integral to membrane		g.chr9:84608276G>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.2891G>A	9.37:g.84608276G>A	ENSP00000341988:p.Arg964His						p.R964H	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	2938	+			964						Missense_Mutation	SNP	ENST00000344803.2	37	c.2891G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	6.542	0.468258	0.12461	0.0	1.21E-4	ENSG00000214929	ENST00000344803	T	0.06068	3.35	2.32	-4.63	0.03359	.	1.840540	0.03916	U	0.282776	T	0.08447	0.0210	N	0.22421	0.69	0.09310	N	1	D	0.71674	0.998	D	0.63957	0.92	T	0.21348	-1.0248	10	0.36615	T	0.2	.	0.2846	0.00249	0.3727:0.1376:0.1982:0.2915	.	964	Q6ZQQ2	F75D1_HUMAN	H	964	ENSP00000341988:R964H	ENSP00000341988:R964H	R	+	2	0	FAM75D1	83798096	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.337000	0.07852	-0.960000	0.03613	-0.738000	0.03535	CGT		0.517	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		47	90	0	0	0	0	47	90				
ZNF883	169834	broad.mit.edu	37	9	115760008	115760008	+	lincRNA	SNP	C	C	T			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:115760008C>T	ENST00000427548.1	-	0	1805							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TAGGATTTTTCCTCAGAATGA	0.403																																						uc011lwy.1		NA																	0					0						c.(532-534)GAA>AAA		hypothetical protein LOC169834							93.0	93.0	93.0					9																	115760008		2131	4272	6403			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760008C>T	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760008C>T							p.E178K	NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN			5	1771	-			178						Missense_Mutation	SNP	ENST00000427548.1	37	c.532G>A																																																																																					0.403	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		21	27	0	0	0	0	21	27				
RGS3	5998	broad.mit.edu	37	9	116267802	116267802	+	Splice_Site	SNP	C	C	T	rs142637936	byFrequency	TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:116267802C>T	ENST00000374140.2	+	12	1187	c.978C>T	c.(976-978)tcC>tcT	p.S326S	RGS3_ENST00000343817.5_Splice_Site_p.S45S|RGS3_ENST00000350696.5_Splice_Site_p.S326S|RGS3_ENST00000374136.1_5'UTR|RGS3_ENST00000317613.6_Splice_Site_p.S214S|RGS3_ENST00000394646.3_Splice_Site_p.S45S	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	326	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						CCGTGGATTCCGGTAAGTTAT	0.572																																						uc004bhq.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(976-978)TCC>TCT		regulator of G-protein signalling 3 isoform 6		C	,,	0,4406		0,0,2203	125.0	91.0	103.0		642,135,978	-12.0	0.4	9	dbSNP_134	103	4,8596	3.7+/-12.6	0,4,4296	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	RGS3	NM_017790.3,NM_130795.2,NM_144488.4	,,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	,,	214/603,45/918,326/1199	116267802	4,13002	2203	4300	6503	SO:0001630	splice_region_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.chr9:116267802C>T	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.979+1C>T	9.37:g.116267802C>T						RGS3_uc004bhr.2_Silent_p.S214S|RGS3_uc004bhs.2_Silent_p.S216S|RGS3_uc004bht.2_Silent_p.S45S|RGS3_uc010muy.2_Silent_p.S45S|RGS3_uc004bhu.2_5'UTR	p.S326S	NM_144488	NP_652759	P49796	RGS3_HUMAN			12	1187	+			326			PDZ.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	c.978C>T	CCDS43869.1																																																																																				0.572	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	Silent	15	19	0	0	0	0	15	19				
GSN	2934	broad.mit.edu	37	9	124064328	124064328	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:124064328C>A	ENST00000373818.4	+	2	301	c.232C>A	c.(232-234)Ctg>Atg	p.L78M	GSN_ENST00000373823.3_Missense_Mutation_p.L27M|GSN_ENST00000449733.1_Missense_Mutation_p.L27M|GSN_ENST00000545652.1_Missense_Mutation_p.L35M|GSN_ENST00000373808.2_Missense_Mutation_p.L27M|GSN_ENST00000412819.1_Missense_Mutation_p.L27M|GSN_ENST00000436847.1_Missense_Mutation_p.L38M|GSN_ENST00000394353.2_Missense_Mutation_p.L38M|GSN_ENST00000341272.2_Missense_Mutation_p.L27M	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	78	Actin-severing. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GAAGTTCGATCTGGTGCCCGT	0.572																																						uc004blf.1		NA																	0				breast(2)|ovary(1)	3						c.(232-234)CTG>ATG		gelsolin isoform a precursor							163.0	147.0	153.0					9																	124064328		2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124064328C>A	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.232C>A	9.37:g.124064328C>A	ENSP00000362924:p.Leu78Met					GSN_uc004bld.1_Missense_Mutation_p.L27M|GSN_uc010mvq.1_Missense_Mutation_p.L38M|GSN_uc010mvr.1_Missense_Mutation_p.L38M|GSN_uc010mvu.1_Missense_Mutation_p.L27M|GSN_uc010mvt.1_Missense_Mutation_p.L27M|GSN_uc010mvs.1_Missense_Mutation_p.L27M|GSN_uc004ble.1_Missense_Mutation_p.L27M|GSN_uc010mvv.1_Missense_Mutation_p.L27M|GSN_uc011lyh.1_Missense_Mutation_p.L44M|GSN_uc011lyi.1_Missense_Mutation_p.L27M|GSN_uc011lyj.1_Missense_Mutation_p.L51M	p.L78M	NM_000177	NP_000168	P06396	GELS_HUMAN			2	293	+			78			Actin-severing (Potential).|Gelsolin-like 1.		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.232C>A	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691064	0.48097	.	.	ENSG00000148180	ENST00000373823;ENST00000432226;ENST00000449773;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000456109;ENST00000545652;ENST00000373818	T;T;T;T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.24	3.14	0.36123	Gelsolin domain (1);	0.066952	0.64402	D	0.000008	T	0.35770	0.0943	M	0.67700	2.07	0.50039	D	0.999844	D;D;D;D	0.89917	1.0;1.0;0.992;1.0	D;D;D;D	0.97110	0.995;1.0;0.964;0.999	T	0.14254	-1.0479	10	0.31617	T	0.26	-14.5658	4.3216	0.11020	0.0:0.5515:0.0:0.4485	.	51;35;38;78	B7Z9A0;F5H1A8;B7Z373;P06396	.;.;.;GELS_HUMAN	M	27;27;38;38;38;27;27;27;27;27;35;78	ENSP00000362929:L27M;ENSP00000404226:L27M;ENSP00000410657:L38M;ENSP00000411293:L38M;ENSP00000377882:L38M;ENSP00000409358:L27M;ENSP00000416586:L27M;ENSP00000340888:L27M;ENSP00000362914:L27M;ENSP00000445823:L35M;ENSP00000362924:L78M	ENSP00000340888:L27M	L	+	1	2	GSN	123104149	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.545000	0.45769	1.191000	0.43056	0.557000	0.71058	CTG		0.572	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		29	112	1	0	9.39e-14	1.08e-13	29	112				
ADAMTS13	11093	broad.mit.edu	37	9	136307841	136307841	+	Silent	SNP	C	C	T	rs587731476		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:136307841C>T	ENST00000371929.3	+	18	2655	c.2211C>T	c.(2209-2211)tgC>tgT	p.C737C	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.C737C|ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Silent_p.C706C	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	737					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)		CAGAGGCCTGCGTGCTCGAAC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19479	0.0		0.0	False		,,,				2504	0.0					uc004cdv.3		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6						c.(2209-2211)TGC>TGT		ADAM metallopeptidase with thrombospondin type 1							40.0	45.0	43.0					9																	136307841		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:136307841C>T	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.2211C>T	9.37:g.136307841C>T						ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Silent_p.C737C|ADAMTS13_uc004cdu.1_Silent_p.C706C|ADAMTS13_uc004cdw.3_Silent_p.C737C|ADAMTS13_uc004cdx.3_Silent_p.C706C|ADAMTS13_uc004cdy.1_Intron|ADAMTS13_uc004cdz.3_Silent_p.C407C|ADAMTS13_uc004cds.1_Silent_p.C262C|ADAMTS13_uc004cdr.1_Intron	p.C737C	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)	18	2655	+			737					Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	37	c.2211C>T	CCDS6970.1																																																																																				0.657	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		38	31	0	0	0	0	38	31				
CAMSAP1	157922	broad.mit.edu	37	9	138714065	138714065	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr9:138714065C>G	ENST00000389532.4	-	11	2506	c.2442G>C	c.(2440-2442)atG>atC	p.M814I	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.M536I|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.M825I|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	814					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CAAAGCTGGTCATCTTCACGC	0.587																																						uc004cgr.3		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2440-2442)ATG>ATC		calmodulin regulated spectrin-associated protein							73.0	80.0	77.0					9																	138714065		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138714065C>G	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2442G>C	9.37:g.138714065C>G	ENSP00000374183:p.Met814Ile					CAMSAP1_uc004cgq.3_Missense_Mutation_p.M704I|CAMSAP1_uc010nbg.2_Missense_Mutation_p.M536I	p.M814I	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	2442	-			814					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.2442G>C	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205183	0.79127	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.71103	-0.54;-0.54;-0.54	5.14	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.85230	0.5649	M	0.86420	2.815	0.58432	D	0.999997	D;D	0.76494	0.997;0.999	D;D	0.91635	0.985;0.999	D	0.87835	0.2647	10	0.87932	D	0	-53.466	13.6786	0.62469	0.0:0.9251:0.0:0.0749	.	814;825	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	I	814;536;825	ENSP00000374183:M814I;ENSP00000312463:M536I;ENSP00000386420:M825I	ENSP00000312463:M536I	M	-	3	0	CAMSAP1	137853886	1.000000	0.71417	0.999000	0.59377	0.751000	0.42716	7.668000	0.83897	1.299000	0.44798	0.655000	0.94253	ATG		0.587	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		18	101	0	0	0	0	18	101				
XPNPEP2	7512	broad.mit.edu	37	X	128887212	128887212	+	Silent	SNP	C	C	G			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chrX:128887212C>G	ENST00000371106.3	+	11	1287	c.1095C>G	c.(1093-1095)ctC>ctG	p.L365L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	365						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGGCCCTCCTCAAGGCCAGCC	0.537																																						uc004eut.1		NA																	0					0						c.(1093-1095)CTC>CTG		X-prolyl aminopeptidase 2, membrane-bound							149.0	116.0	127.0					X																	128887212		2203	4299	6502	SO:0001819	synonymous_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128887212C>G	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1095C>G	X.37:g.128887212C>G							p.L365L	NM_003399	NP_003390	O43895	XPP2_HUMAN			11	1339	+			365					A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	c.1095C>G	CCDS14613.1																																																																																				0.537	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		33	51	0	0	0	0	33	51				
ABL2	27	broad.mit.edu	37	1	179077623	179077632	+	Frame_Shift_Del	DEL	GAGTGGTTGG	GAGTGGTTGG	-	rs202035355		TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr1:179077623_179077632delGAGTGGTTGG	ENST00000502732.1	-	12	2973_2982	c.2770_2779delCCAACCACTC	c.(2770-2781)ccaaccactcacfs	p.PTTH924fs	ABL2_ENST00000511413.1_Frame_Shift_Del_p.PTTH821fs|ABL2_ENST00000408940.3_Frame_Shift_Del_p.PTTH888fs|ABL2_ENST00000504405.1_Frame_Shift_Del_p.PTTH785fs|ABL2_ENST00000344730.3_Frame_Shift_Del_p.PTTH806fs|ABL2_ENST00000507173.1_Frame_Shift_Del_p.PTTH800fs|ABL2_ENST00000512653.1_Frame_Shift_Del_p.PTTH909fs|ABL2_ENST00000367623.4_Frame_Shift_Del_p.PTTH903fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	924	F-actin-binding. {ECO:0000250}.|Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTGTGGTTGTGAGTGGTTGGGAGGACGGGG	0.557			T	ETV6	AML																																	uc001gmj.3		NA		Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(2770-2781)CCAACCACTCACfs		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)																																			SO:0001589	frameshift_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077623_179077632delGAGTGGTTGG	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2770_2779delCCAACCACTC	1.37:g.179077623_179077632delGAGTGGTTGG	ENSP00000427562:p.Pro924fs					ABL2_uc010pnf.1_Frame_Shift_Del_p.P821fs|ABL2_uc010png.1_Frame_Shift_Del_p.P800fs|ABL2_uc010pnh.1_Frame_Shift_Del_p.P903fs|ABL2_uc001gmg.3_Frame_Shift_Del_p.P806fs|ABL2_uc001gmi.3_Frame_Shift_Del_p.P909fs|ABL2_uc001gmh.3_Frame_Shift_Del_p.P888fs|ABL2_uc010pne.1_Frame_Shift_Del_p.P785fs	p.P924fs	NM_007314	NP_009298	P42684	ABL2_HUMAN			12	3057_3066	-			924_927			F-actin-binding (By similarity).|Pro-rich.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Frame_Shift_Del	DEL	ENST00000502732.1	37	c.2770_2779delCCAACCACTC	CCDS30947.1																																																																																				0.557	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		8	81	NA	NA	NA	NA	8	81	---	---	---	---
OR4C11	219429	broad.mit.edu	37	11	55371152	55371152	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr11:55371152delT	ENST00000302231.4	-	1	722	c.698delA	c.(697-699)aagfs	p.K233fs		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	233						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						GGAGAGAGCCTTTTTCTTCCC	0.418																																						uc010rii.1		NA																	0				ovary(1)	1						c.(697-699)AAGfs		olfactory receptor, family 4, subfamily C,							77.0	66.0	70.0					11																	55371152		2178	4004	6182	SO:0001589	frameshift_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371152delT	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.698delA	11.37:g.55371152delT	ENSP00000306651:p.Lys233fs						p.K233fs	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	698	-			233			Cytoplasmic (Potential).		B9EIL4|Q8NGL8	Frame_Shift_Del	DEL	ENST00000302231.4	37	c.698delA	CCDS31503.1																																																																																				0.418	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		47	7	NA	NA	NA	NA	47	7	---	---	---	---
YY1	7528	broad.mit.edu	37	14	100705745	100705749	+	Frame_Shift_Del	DEL	GCGGT	GCGGT	-			TCGA-CV-5977-01A-11D-1683-08	TCGA-CV-5977-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	81f3c96a-54bb-4629-a64e-7c8dae66e11a	9289d7b1-076c-410c-a6d3-9e0e5df933fc	g.chr14:100705745_100705749delGCGGT	ENST00000262238.4	+	1	424_428	c.164_168delGCGGT	c.(163-168)ggcggtfs	p.GG55fs	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	55	Gly-rich.|Interaction with the SMAD1/SMAD4 complex.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|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 transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				gaggacggcggcggtggcgaccacg	0.712																																						uc001ygy.1		NA																	0					0						c.(163-168)GGCGGTfs		YY1 transcription factor																																				SO:0001589	frameshift_variant	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100705745_100705749delGCGGT	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.164_168delGCGGT	14.37:g.100705745_100705749delGCGGT	ENSP00000262238:p.Gly55fs						p.G55fs	NM_003403	NP_003394	P25490	TYY1_HUMAN			1	644_648	+		Melanoma(154;0.152)	55_56			Gly-rich.		Q14935	Frame_Shift_Del	DEL	ENST00000262238.4	37	c.164_168delGCGGT	CCDS9957.1																																																																																				0.712	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403		10	12	NA	NA	NA	NA	10	12	---	---	---	---
