#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_ACHILLES_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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MTOR	2475	broad.mit.edu	37	1	11270918	11270918	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:11270918G>A	ENST00000361445.4	-	24	3683	c.3607C>T	c.(3607-3609)Cga>Tga	p.R1203*		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1203					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGATTGATTCGGTGTCGCACC	0.393																																							uc001asd.2		NA																	0				central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(3607-3609)CGA>TGA		FK506 binding protein 12-rapamycin associated							102.0	92.0	96.0					1																	11270918		2203	4300	6503	SO:0001587	stop_gained	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11270918G>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3607C>T	1.37:g.11270918G>A	ENSP00000354558:p.Arg1203*						p.R1203*	NM_004958	NP_004949	P42345	MTOR_HUMAN			24	3728	-			1203					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Nonsense_Mutation	SNP	ENST00000361445.4	37	c.3607C>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	43	10.125248	0.99342	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	.	.	.	6.06	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.519	14.8499	0.70289	0.0:0.0:0.6995:0.3005	.	.	.	.	X	1203	.	ENSP00000354558:R1203X	R	-	1	2	MTOR	11193505	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.259000	0.43259	2.882000	0.98803	0.655000	0.94253	CGA		0.393	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		5	75	0	0	0	0.02938	0	5	75				
C1orf64	149563	broad.mit.edu	37	1	16330828	16330828	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:16330828G>T	ENST00000329454.2	+	1	98	c.30G>T	c.(28-30)tgG>tgT	p.W10C	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	10										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGGACTGGAGAGCCAACC	0.642																																							uc001axn.2		NA																	0				breast(2)	2						c.(28-30)TGG>TGT		hypothetical protein LOC149563							41.0	39.0	40.0					1																	16330828		2197	4295	6492	SO:0001583	missense	149563							g.chr1:16330828G>T	AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"""ER-related factor"""					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.30G>T	1.37:g.16330828G>T	ENSP00000332162:p.Trp10Cys						p.W10C	NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)	1	98	+		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	10					B3KXI9	Missense_Mutation	SNP	ENST00000329454.2	37	c.30G>T	CCDS166.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734253	0.30684	.	.	ENSG00000183888	ENST00000329454	T	0.44083	0.93	3.91	-0.603	0.11630	.	2.012340	0.02427	N	0.083170	T	0.23688	0.0573	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.11743	-1.0575	10	0.38643	T	0.18	4.2836	0.7331	0.00960	0.2354:0.1847:0.3908:0.1891	.	10	Q8NEQ6	CA064_HUMAN	C	10	ENSP00000332162:W10C	ENSP00000332162:W10C	W	+	3	0	C1orf64	16203415	0.001000	0.12720	0.000000	0.03702	0.473000	0.32948	0.835000	0.27531	-0.076000	0.12775	0.491000	0.48974	TGG		0.642	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026317.1	NM_178840		4	8	1	0	0.00024832	0.009096	0.000269454	4	8				
HSP90B3P	343477	broad.mit.edu	37	1	92108525	92108525	+	IGR	SNP	C	C	A	rs117857370	byFrequency	TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:92108525C>A								CDC7 (117204 upstream) : TGFBR3 (37376 downstream)																							TGCCTAAGTACCTTAATTTTG	0.378																																							uc010osx.1		NA																	0					0						c.(550-552)TAC>TAA		SubName: Full=cDNA FLJ58812, highly similar to Endoplasmin (Heat shock protein 90kDa beta member 1);																																				SO:0001628	intergenic_variant	343477							g.chr1:92108525C>A																													1.37:g.92108525C>A							p.Y184*	NR_003130						3	552	+									Nonsense_Mutation	SNP		37	c.552C>A																																																																																				0	0.378									12	23	1	0	0.000978159	0.010729	0.00103929	12	23				
SELENBP1	8991	broad.mit.edu	37	1	151341499	151341499	+	Missense_Mutation	SNP	C	C	A	rs150747769	byFrequency	TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:151341499C>A	ENST00000368868.5	-	4	432	c.341G>T	c.(340-342)cGg>cTg	p.R114L	SELENBP1_ENST00000426705.2_Missense_Mutation_p.R156L|SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000435071.1_Missense_Mutation_p.R50L|SELENBP1_ENST00000447402.3_Intron	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	114				RAP -> GPQ (in Ref. 1; AAB02395). {ECO:0000305}.	protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			CTTTGGGGCCCGGGGCTCAGA	0.607																																							uc001exx.2		NA																	0					0						c.(340-342)CGG>CTG		selenium binding protein 1							59.0	59.0	59.0					1																	151341499		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151341499C>A	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.341G>T	1.37:g.151341499C>A	ENSP00000357861:p.Arg114Leu					SELENBP1_uc010pcy.1_Missense_Mutation_p.R156L|SELENBP1_uc001exy.2_Missense_Mutation_p.G10W|SELENBP1_uc001exz.2_Missense_Mutation_p.G10W|SELENBP1_uc010pcz.1_Intron|SELENBP1_uc009wms.2_Missense_Mutation_p.G10W|SELENBP1_uc009wmt.2_Missense_Mutation_p.G10W|SELENBP1_uc001eya.2_Missense_Mutation_p.R50L|SELENBP1_uc009wmu.2_Missense_Mutation_p.G10W	p.R114L	NM_003944	NP_003935	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		4	388	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		114	RAP -> GPQ (in Ref. 1; AAB02395).				A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.341G>T	CCDS995.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395936	0.83011	.	.	ENSG00000143416	ENST00000368868;ENST00000435071;ENST00000458566;ENST00000426705	T;T	0.14640	2.49;2.49	4.95	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	M	0.78344	2.41	0.80722	D	1	P;B	0.42161	0.772;0.367	P;B	0.49012	0.598;0.328	T	0.01405	-1.1363	10	0.33940	T	0.23	-11.7926	14.0756	0.64889	0.0:0.8479:0.1521:0.0	.	156;114	A6PVW9;Q13228	.;SBP1_HUMAN	L	114;50;98;156	ENSP00000406222:R98L;ENSP00000397261:R156L	ENSP00000357861:R114L	R	-	2	0	SELENBP1	149608123	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	5.433000	0.66520	1.294000	0.44707	0.462000	0.41574	CGG		0.607	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			16	76	1	0	6.31663e-08	0.024245	7.71612e-08	16	76				
TDRKH	11022	broad.mit.edu	37	1	151755442	151755442	+	Silent	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:151755442C>A	ENST00000368822.1	-	2	690	c.57G>T	c.(55-57)ctG>ctT	p.L19L	TDRKH_ENST00000368824.3_Silent_p.L19L|TDRKH_ENST00000458431.2_Silent_p.L19L|TDRKH_ENST00000368823.1_Silent_p.L19L|TDRKH_ENST00000368827.6_Silent_p.L19L|TDRKH_ENST00000368825.3_Silent_p.L19L|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	19					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCCCAAGGCCCAGGGCTATTT	0.463																																							uc009wnb.1		NA																	0				ovary(1)|pancreas(1)	2						c.(55-57)CTG>CTT		tudor and KH domain containing isoform a							110.0	112.0	111.0					1																	151755442		1856	4087	5943	SO:0001819	synonymous_variant	11022						RNA binding	g.chr1:151755442C>A	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.57G>T	1.37:g.151755442C>A						TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.3_Silent_p.L19L|TDRKH_uc001ezc.3_Silent_p.L19L|TDRKH_uc001eza.3_Silent_p.L19L|TDRKH_uc001ezd.3_Silent_p.L19L|TDRKH_uc010pdn.1_5'UTR	p.L19L	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	239	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		19					D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	c.57G>T	CCDS41394.1																																																																																				0.463	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		39	130	1	0	6.57855e-14	0.036044	9.00687e-14	39	130				
FLG	2312	broad.mit.edu	37	1	152281717	152281717	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:152281717C>T	ENST00000368799.1	-	3	5680	c.5645G>A	c.(5644-5646)gGg>gAg	p.G1882E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1882	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACGCGACCCTGAGTGCCT	0.577									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5644-5646)GGG>GAG		filaggrin							295.0	294.0	295.0					1																	152281717		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281717C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5645G>A	1.37:g.152281717C>T	ENSP00000357789:p.Gly1882Glu						p.G1882E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5681	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1882			Ser-rich.|Filaggrin 11.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5645G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.477	1.097022	0.20552	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.02236	4.38	2.54	1.56	0.23342	.	.	.	.	.	T	0.02688	0.0081	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.20273	-1.0280	9	0.02654	T	1	-5.6314	7.3758	0.26827	0.0:0.7289:0.2711:0.0	.	1882	P20930	FILA_HUMAN	E	1882;117	ENSP00000357789:G1882E	ENSP00000271820:G117E	G	-	2	0	FLG	150548341	0.000000	0.05858	0.010000	0.14722	0.005000	0.04900	0.111000	0.15458	0.359000	0.24239	0.586000	0.80456	GGG		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		98	456	0	0	0	0.048971	0	98	456				
NTRK1	4914	broad.mit.edu	37	1	156845419	156845419	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:156845419G>A	ENST00000524377.1	+	12	1503	c.1462G>A	c.(1462-1464)Ggc>Agc	p.G488S	NTRK1_ENST00000392302.2_Missense_Mutation_p.G452S|NTRK1_ENST00000358660.3_Missense_Mutation_p.G482S|NTRK1_ENST00000368196.3_Missense_Mutation_p.G482S	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	488	Interaction with SQSTM1. {ECO:0000250}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TGGGCTCCAAGGCCACATCAT	0.587			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																													uc001fqh.1		NA		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		0				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(1462-1464)GGC>AGC		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						98.0	80.0	86.0					1																	156845419		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156845419G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1462G>A	1.37:g.156845419G>A	ENSP00000431418:p.Gly488Ser	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Missense_Mutation_p.G452S|NTRK1_uc009wsi.1_Missense_Mutation_p.G187S|NTRK1_uc001fqi.1_Missense_Mutation_p.G482S|NTRK1_uc009wsk.1_Missense_Mutation_p.G482S	p.G488S	NM_002529	NP_002520	P04629	NTRK1_HUMAN			12	1518	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		488			Cytoplasmic (Potential).|Interaction with SQSTM1 (By similarity).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1462G>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488224	0.26686	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.75938	-0.95;-0.95;-0.96;-0.98	4.64	3.69	0.42338	.	0.246896	0.28724	N	0.014351	T	0.23330	0.0564	N	0.04508	-0.205	0.31003	N	0.72015	B;B;B;B	0.13145	0.0;0.001;0.007;0.004	B;B;B;B	0.20184	0.002;0.009;0.028;0.007	T	0.12967	-1.0527	10	0.07175	T	0.84	.	6.7524	0.23495	0.094:0.3504:0.5556:0.0	.	482;482;488;452	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	S	452;482;488;482	ENSP00000376120:G452S;ENSP00000357179:G482S;ENSP00000431418:G488S;ENSP00000351486:G482S	ENSP00000351486:G482S	G	+	1	0	NTRK1	155112043	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	3.048000	0.49862	1.119000	0.41883	0.462000	0.41574	GGC		0.587	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		22	58	0	0	0	0.01892	0	22	58				
SPTA1	6708	broad.mit.edu	37	1	158619707	158619707	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:158619707T>A	ENST00000368147.4	-	25	3688	c.3508A>T	c.(3508-3510)Agg>Tgg	p.R1170W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1170					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGCAAGCCTCTGCAAAGAA	0.458																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3508-3510)AGG>TGG		spectrin, alpha, erythrocytic 1							29.0	29.0	29.0					1																	158619707		1837	4097	5934	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158619707T>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3508A>T	1.37:g.158619707T>A	ENSP00000357129:p.Arg1170Trp						p.R1170W	NM_003126	NP_003117	P02549	SPTA1_HUMAN			25	3707	-	all_hematologic(112;0.0378)		1170			Spectrin 11.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3508A>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.501993	0.64298	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52526	0.66;0.66	5.08	2.71	0.32032	.	0.229134	0.22227	N	0.062866	T	0.43986	0.1272	L	0.51422	1.61	0.34237	D	0.677156	D	0.55605	0.972	P	0.58520	0.84	T	0.50118	-0.8865	10	0.72032	D	0.01	.	12.3213	0.54987	0.0:0.0:0.5725:0.4275	.	1170	P02549	SPTA1_HUMAN	W	1170	ENSP00000357130:R1170W;ENSP00000357129:R1170W	ENSP00000357129:R1170W	R	-	1	2	SPTA1	156886331	1.000000	0.71417	0.999000	0.59377	0.567000	0.35839	3.143000	0.50608	0.376000	0.24707	-0.323000	0.08544	AGG		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		11	36	0	0	0	0.024245	0	11	36				
SPTA1	6708	broad.mit.edu	37	1	158623075	158623075	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:158623075C>A	ENST00000368147.4	-	22	3357	c.3177G>T	c.(3175-3177)caG>caT	p.Q1059H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1059					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTTCTCAATCTGCTCCTGGC	0.517																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3175-3177)CAG>CAT		spectrin, alpha, erythrocytic 1							119.0	123.0	122.0					1																	158623075		1969	4154	6123	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158623075C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3177G>T	1.37:g.158623075C>A	ENSP00000357129:p.Gln1059His						p.Q1059H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			22	3376	-	all_hematologic(112;0.0378)		1059					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3177G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161177	0.57368	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.67698	-0.28;-0.28	5.15	0.906	0.19314	.	0.594351	0.12814	N	0.436990	T	0.53769	0.1817	L	0.61218	1.895	0.38440	D	0.946684	P	0.43857	0.819	P	0.46510	0.519	T	0.54556	-0.8276	10	0.51188	T	0.08	.	9.4415	0.38670	0.0:0.663:0.1125:0.2245	.	1059	P02549	SPTA1_HUMAN	H	1059	ENSP00000357130:Q1059H;ENSP00000357129:Q1059H	ENSP00000357129:Q1059H	Q	-	3	2	SPTA1	156889699	0.936000	0.31750	0.963000	0.40424	0.855000	0.48748	0.029000	0.13666	0.082000	0.17018	-0.797000	0.03246	CAG		0.517	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		34	160	1	0	6.04917e-29	0.027894	9.64087e-29	34	160				
UCK2	7371	broad.mit.edu	37	1	165872437	165872437	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:165872437A>T	ENST00000367879.4	+	5	821	c.518A>T	c.(517-519)gAg>gTg	p.E173V	UCK2_ENST00000469256.2_Missense_Mutation_p.E23V|UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000470820.1_Missense_Mutation_p.E23V|UCK2_ENST00000372212.4_Silent_p.R125R|RP11-525G13.2_ENST00000455257.2_RNA	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	173					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					GACATCAGCGAGAGAGGCAGG	0.483																																							uc001gdp.2		NA																	0				ovary(1)	1						c.(517-519)GAG>GTG		uridine-cytidine kinase 2							224.0	200.0	208.0					1																	165872437		2203	4300	6503	SO:0001583	missense	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165872437A>T	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.518A>T	1.37:g.165872437A>T	ENSP00000356853:p.Glu173Val					UCK2_uc010plb.1_Missense_Mutation_p.E35V	p.E173V	NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN			5	699	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		173					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	c.518A>T	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197630	0.79015	.	.	ENSG00000143179	ENST00000367879	.	.	.	4.74	4.74	0.60224	Phosphoribulokinase/uridine kinase (1);	0.163246	0.56097	D	0.000040	T	0.74550	0.3731	H	0.94698	3.57	0.58432	D	0.999999	P;P	0.46142	0.744;0.873	B;P	0.53360	0.335;0.724	T	0.82800	-0.0278	8	0.72032	D	0.01	-10.1583	12.2381	0.54526	1.0:0.0:0.0:0.0	.	23;173	Q9BZX2-2;Q9BZX2	.;UCK2_HUMAN	V	173	.	ENSP00000356853:E173V	E	+	2	0	UCK2	164139061	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.839000	0.92120	1.994000	0.58287	0.533000	0.62120	GAG		0.483	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		7	150	0	0	0	0.047766	0	7	150				
TEX35	84066	broad.mit.edu	37	1	178485002	178485002	+	Silent	SNP	C	C	G			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:178485002C>G	ENST00000319416.2	+	4	280	c.168C>G	c.(166-168)ctC>ctG	p.L56L	TEX35_ENST00000367639.1_Silent_p.L64L|TEX35_ENST00000367641.3_Silent_p.L56L|TEX35_ENST00000367642.3_Intron|TEX35_ENST00000258298.2_5'UTR|TEX35_ENST00000367643.3_Silent_p.L56L	NM_032126.4	NP_115502.2			testis expressed 35																		AGAATGAACTCAGGGAAGTGA	0.433																																							uc001glt.1		NA																	0					0						c.(166-168)CTC>CTG		hypothetical protein LOC84066							82.0	79.0	80.0					1																	178485002		2203	4300	6503	SO:0001819	synonymous_variant	84066					microtubule cytoskeleton		g.chr1:178485002C>G	AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 24kDa"""		"""chromosome 1 open reading frame 49"""	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.168C>G	1.37:g.178485002C>G						C1orf49_uc001glu.1_Silent_p.L56L|C1orf49_uc001glv.1_RNA|C1orf49_uc001glw.1_Silent_p.L64L	p.L56L	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN			4	280	+			56			Potential.			Silent	SNP	ENST00000319416.2	37	c.168C>G	CCDS1323.1																																																																																				0.433	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084917.1	NM_032126		12	24	0	0	0	0.024245	0	12	24				
SMG7	9887	broad.mit.edu	37	1	183515445	183515445	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:183515445G>T	ENST00000347615.2	+	17	2834	c.2715G>T	c.(2713-2715)caG>caT	p.Q905H	SMG7_ENST00000367537.3_Missense_Mutation_p.Q888H|SMG7_ENST00000507469.1_Missense_Mutation_p.Q859H|SMG7_ENST00000456731.2_Missense_Mutation_p.Q817H|SMG7_ENST00000515829.2_Missense_Mutation_p.Q859H|SMG7_ENST00000508461.1_Missense_Mutation_p.Q863H	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	905					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GTCCAGAGCAGGATCCTGTAC	0.473																																							uc001gqg.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(2713-2715)CAG>CAT		SMG-7 homolog isoform 1							87.0	93.0	91.0					1																	183515445		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515445G>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2715G>T	1.37:g.183515445G>T	ENSP00000340766:p.Gln905His					SMG7_uc010pob.1_Missense_Mutation_p.Q888H|SMG7_uc001gqf.2_Missense_Mutation_p.Q859H|SMG7_uc001gqh.2_Missense_Mutation_p.Q859H|SMG7_uc001gqi.2_Missense_Mutation_p.Q817H|SMG7_uc010poc.1_Missense_Mutation_p.Q863H	p.Q905H	NM_173156	NP_775179	Q92540	SMG7_HUMAN			17	2837	+			905					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.2715G>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711674	0.68730	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.72	4.82	0.62117	.	0.631544	0.16600	N	0.207381	T	0.54351	0.1853	L	0.27053	0.805	0.58432	D	0.999992	D;D;B;B;B;D	0.62365	0.991;0.99;0.172;0.123;0.172;0.99	P;D;B;B;B;D	0.72982	0.77;0.979;0.025;0.063;0.041;0.979	T	0.55848	-0.8076	10	0.72032	D	0.01	-9.1306	11.089	0.48104	0.1407:0.0:0.8593:0.0	.	863;888;817;859;905;859	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	H	817;888;863;905;859;859	ENSP00000407629:Q817H;ENSP00000356507:Q888H;ENSP00000426915:Q863H;ENSP00000340766:Q905H;ENSP00000425133:Q859H;ENSP00000421358:Q859H	ENSP00000340766:Q905H	Q	+	3	2	SMG7	181782068	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.700000	0.61803	1.427000	0.47276	-0.126000	0.14955	CAG		0.473	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		22	62	1	0	1.36565e-18	0.016522	1.98994e-18	22	62				
CRB1	23418	broad.mit.edu	37	1	197397003	197397003	+	Missense_Mutation	SNP	G	G	A	rs62636270		TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:197397003G>A	ENST00000367400.3	+	7	2683	c.2548G>A	c.(2548-2550)Ggc>Agc	p.G850S	CRB1_ENST00000544212.1_Missense_Mutation_p.G331S|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.G738S|CRB1_ENST00000535699.1_Missense_Mutation_p.G781S|CRB1_ENST00000367397.1_Missense_Mutation_p.G231S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	850	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		G -> S (in RP12 and LCA8). {ECO:0000269|PubMed:15459956, ECO:0000269|PubMed:20591486, ECO:0000269|PubMed:20956273}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATTCTTCAAAGGCTGTATCCA	0.393																																							uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9	GRCh37	CM043272	CRB1	M	rs62636270	c.(2548-2550)GGC>AGC		crumbs homolog 1 precursor							96.0	92.0	94.0					1																	197397003		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197397003G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2548G>A	1.37:g.197397003G>A	ENSP00000356370:p.Gly850Ser					CRB1_uc010poz.1_Missense_Mutation_p.G781S|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.G738S|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.G331S|CRB1_uc001gub.1_Missense_Mutation_p.G499S	p.G850S	NM_201253	NP_957705	P82279	CRUM1_HUMAN			7	2683	+			850		G -> S (in RP12).	Extracellular (Potential).|Laminin G-like 2.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.2548G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081390	0.94050	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.99127	0.9699	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.99429	1.0935	9	0.59425	D	0.04	.	18.2306	0.89934	0.0:0.0:1.0:0.0	.	781;738;499;850	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	S	781;850;738;331;231;499	ENSP00000438786:G781S;ENSP00000356370:G850S;ENSP00000356369:G738S;ENSP00000444556:G331S;ENSP00000356367:G231S	ENSP00000356367:G231S	G	+	1	0	CRB1	195663626	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.212000	0.95126	2.304000	0.77564	0.650000	0.86243	GGC		0.393	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		17	65	0	0	0	0.028581	0	17	65				
KLHDC8A	55220	broad.mit.edu	37	1	205308439	205308439	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:205308439A>C	ENST00000367156.3	-	7	1456	c.640T>G	c.(640-642)Ttc>Gtc	p.F214V	KLHDC8A_ENST00000367155.3_Missense_Mutation_p.F214V|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.F80V|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.F214V|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.F101V	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	214										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AAGCTGGAGAAGGCCCGCTTA	0.582																																							uc001hcf.1		NA																	0				ovary(1)	1						c.(640-642)TTC>GTC		kelch domain containing 8A							62.0	53.0	56.0					1																	205308439		2203	4300	6503	SO:0001583	missense	55220							g.chr1:205308439A>C		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.640T>G	1.37:g.205308439A>C	ENSP00000356124:p.Phe214Val					KLHDC8A_uc010prg.1_Missense_Mutation_p.F101V|KLHDC8A_uc001hcg.1_Missense_Mutation_p.F214V	p.F214V	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		4	1208	-	Breast(84;0.23)		214			Kelch 5.		B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.640T>G	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.806295	0.90623	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	5.45	5.45	0.79879	Kelch-type beta propeller (1);	0.055728	0.64402	D	0.000001	T	0.67011	0.2848	L	0.42245	1.32	0.50632	D	0.999882	P;B	0.40731	0.728;0.421	B;B	0.39339	0.297;0.054	T	0.64558	-0.6379	10	0.17832	T	0.49	-23.5612	15.1744	0.72899	1.0:0.0:0.0:0.0	.	101;214	F5H5F1;Q8IYD2	.;KLD8A_HUMAN	V	214;214;214;101	ENSP00000356123:F214V;ENSP00000356124:F214V;ENSP00000442229:F214V;ENSP00000443447:F101V	ENSP00000356123:F214V	F	-	1	0	KLHDC8A	203575062	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.300000	0.96151	2.073000	0.62155	0.533000	0.62120	TTC		0.582	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		11	41	0	0	0	0.016723	0	11	41				
SLC35F3	148641	broad.mit.edu	37	1	234455930	234455930	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:234455930G>T	ENST00000366617.3	+	6	1255	c.1027G>T	c.(1027-1029)Gca>Tca	p.A343S	SLC35F3_ENST00000366618.3_Missense_Mutation_p.A412S			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	343					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			ACCTGTGAATGCAGGTAAACC	0.398																																							uc001hwa.1		NA																	0				ovary(2)	2						c.(1027-1029)GCA>TCA		solute carrier family 35, member F3							149.0	136.0	140.0					1																	234455930		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234455930G>T		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.1027G>T	1.37:g.234455930G>T	ENSP00000355576:p.Ala343Ser					SLC35F3_uc001hvy.1_Missense_Mutation_p.A412S	p.A343S	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		6	1255	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	343			Helical; (Potential).		Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.1027G>T		.	.	.	.	.	.	.	.	.	.	G	33	5.208440	0.95069	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.64085	-0.08;-0.08	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.79197	0.4405	M	0.67625	2.065	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.991;0.996	T	0.78425	-0.2209	10	0.52906	T	0.07	-12.3987	19.9043	0.97001	0.0:0.0:1.0:0.0	.	343;412	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	S	412;343	ENSP00000355577:A412S;ENSP00000355576:A343S	ENSP00000355576:A343S	A	+	1	0	SLC35F3	232522553	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	9.209000	0.95087	2.711000	0.92665	0.555000	0.69702	GCA		0.398	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		17	82	1	0	3.51602e-12	0.049695	4.71886e-12	17	82				
OR11L1	391189	broad.mit.edu	37	1	248004356	248004356	+	Silent	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:248004356G>T	ENST00000355784.2	-	1	898	c.843C>A	c.(841-843)gtC>gtA	p.V281V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	281						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGTGGTGTGACCACAGTGT	0.443																																							uc001idn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(841-843)GTC>GTA		olfactory receptor, family 11, subfamily L,							104.0	96.0	99.0					1																	248004356		2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004356G>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.843C>A	1.37:g.248004356G>T							p.V281V	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	843	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		281			Helical; Name=7; (Potential).			Silent	SNP	ENST00000355784.2	37	c.843C>A	CCDS31098.1																																																																																				0.443	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		20	88	1	0	3.62473e-10	0.012319	4.59283e-10	20	88				
OR2L2	26246	broad.mit.edu	37	1	248201637	248201637	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:248201637G>T	ENST00000366479.2	+	1	164	c.68G>T	c.(67-69)gGc>gTc	p.G23V	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCAAGAATTGGCCTTTTCGTA	0.388																																							uc001idw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(67-69)GGC>GTC		olfactory receptor, family 2, subfamily L,							175.0	167.0	169.0					1																	248201637		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201637G>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.68G>T	1.37:g.248201637G>T	ENSP00000355435:p.Gly23Val					OR2L13_uc001ids.2_Intron	p.G23V	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	164	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		23			Extracellular (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.68G>T	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	11.23	1.577506	0.28180	.	.	ENSG00000203663	ENST00000366479	T	0.00450	7.36	2.09	1.0	0.19881	.	.	.	.	.	T	0.00241	0.0007	L	0.32530	0.975	0.18873	N	0.999981	B	0.15141	0.012	B	0.17433	0.018	T	0.35276	-0.9795	9	0.21014	T	0.42	.	2.5882	0.04836	0.1784:0.0:0.5357:0.2859	.	23	Q8NH16	OR2L2_HUMAN	V	23	ENSP00000355435:G23V	ENSP00000355435:G23V	G	+	2	0	OR2L2	246268260	0.000000	0.05858	0.037000	0.18230	0.090000	0.18270	-1.337000	0.02657	1.016000	0.39470	0.194000	0.17425	GGC		0.388	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		45	185	1	0	9.84934e-19	0.039052	1.45599e-18	45	185				
OR2L3	391192	broad.mit.edu	37	1	248224693	248224693	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:248224693A>G	ENST00000359959.3	+	1	710	c.710A>G	c.(709-711)tAc>tGc	p.Y237C	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AAGAAAGCCTACCTGACCTGC	0.473																																							uc001idx.1		NA																	0					0						c.(709-711)TAC>TGC		olfactory receptor, family 2, subfamily L,							178.0	160.0	166.0					1																	248224693		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224693A>G	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.710A>G	1.37:g.248224693A>G	ENSP00000353044:p.Tyr237Cys					OR2L13_uc001ids.2_Intron	p.Y237C	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	710	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		237			Helical; Name=6; (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.710A>G	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	A	5.434	0.265240	0.10294	.	.	ENSG00000198128	ENST00000359959	T	0.00091	8.74	2.05	-1.24	0.09435	GPCR, rhodopsin-like superfamily (1);	0.333009	0.16918	U	0.194183	T	0.00241	0.0007	L	0.34521	1.04	0.18873	N	0.999983	D	0.89917	1.0	D	0.76575	0.988	T	0.53365	-0.8449	10	0.87932	D	0	.	6.8361	0.23937	0.2846:0.0:0.0:0.7154	.	237	Q8NG85	OR2L3_HUMAN	C	237	ENSP00000353044:Y237C	ENSP00000353044:Y237C	Y	+	2	0	OR2L3	246291316	0.002000	0.14202	0.046000	0.18839	0.004000	0.04260	1.258000	0.32944	0.034000	0.15491	0.379000	0.24179	TAC		0.473	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		130	172	0	0	0	0.048971	0	130	172				
OR2M5	127059	broad.mit.edu	37	1	248308583	248308583	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr1:248308583T>C	ENST00000366476.1	+	1	134	c.134T>C	c.(133-135)aTg>aCg	p.M45T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AACTCTGTCATGGTTCTCCTC	0.522																																							uc010pze.1		NA																	0				ovary(2)|kidney(1)	3						c.(133-135)ATG>ACG		olfactory receptor, family 2, subfamily M,							280.0	268.0	272.0					1																	248308583		2203	4297	6500	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308583T>C		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.134T>C	1.37:g.248308583T>C	ENSP00000355432:p.Met45Thr						p.M45T	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	134	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		45			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000366476.1	37	c.134T>C	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	t	2.257	-0.370257	0.05069	.	.	ENSG00000162727	ENST00000366476	T	0.00531	6.76	3.28	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.197165	0.24703	U	0.036283	T	0.00552	0.0018	L	0.55213	1.73	0.09310	N	1	B	0.23442	0.085	B	0.18871	0.023	T	0.42965	-0.9420	10	0.62326	D	0.03	.	11.5465	0.50696	0.0:0.0:0.0:1.0	.	45	A3KFT3	OR2M5_HUMAN	T	45	ENSP00000355432:M45T	ENSP00000355432:M45T	M	+	2	0	OR2M5	246375206	0.491000	0.26019	0.026000	0.17262	0.072000	0.16883	5.604000	0.67626	1.250000	0.43966	0.403000	0.27427	ATG		0.522	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		183	230	0	0	0	0.048971	0	183	230				
FAM171A1	221061	broad.mit.edu	37	10	15263031	15263031	+	Silent	SNP	A	A	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr10:15263031A>T	ENST00000378116.4	-	6	789	c.783T>A	c.(781-783)ctT>ctA	p.L261L	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	261						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCTGGTGCACAAGACCCAGAC	0.552																																							uc001iob.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(781-783)CTT>CTA		hypothetical protein LOC221061 precursor							94.0	80.0	85.0					10																	15263031		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15263031A>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.783T>A	10.37:g.15263031A>T							p.L261L	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			6	790	-			261			Extracellular (Potential).		D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.783T>A	CCDS31154.1																																																																																				0.552	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		32	63	0	0	0	0.045705	0	32	63				
CUBN	8029	broad.mit.edu	37	10	17156057	17156057	+	Silent	SNP	T	T	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr10:17156057T>C	ENST00000377833.4	-	8	917	c.852A>G	c.(850-852)caA>caG	p.Q284Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	284	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGAAAGAGCCTTGAGTGTTGA	0.562																																							uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(850-852)CAA>CAG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						62.0	46.0	51.0					10																	17156057		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17156057T>C	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.852A>G	10.37:g.17156057T>C							p.Q284Q	NM_001081	NP_001072	O60494	CUBN_HUMAN			8	904	-			284			EGF-like 3; calcium-binding (Potential).		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.852A>G	CCDS7113.1																																																																																				0.562	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		4	16	0	0	0	0.009096	0	4	16				
TET1	80312	broad.mit.edu	37	10	70360780	70360780	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr10:70360780A>G	ENST00000373644.4	+	3	2166	c.1957A>G	c.(1957-1959)Aaa>Gaa	p.K653E		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	653	Sufficient for binding to genomic CpG islands.				chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAGAAGCCCAAAGTTTTAAA	0.308																																							uc001jok.3		NA																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(1957-1959)AAA>GAA		CXXC finger 6							82.0	94.0	90.0					10																	70360780		2201	4297	6498	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70360780A>G	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.1957A>G	10.37:g.70360780A>G	ENSP00000362748:p.Lys653Glu						p.K653E	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			3	2462	+			653			Sufficient for binding to genomic CpG islands.		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.1957A>G	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096778	0.56075	.	.	ENSG00000138336	ENST00000373644	T	0.09445	2.98	5.92	5.92	0.95590	.	0.694439	0.13278	N	0.399969	T	0.22475	0.0542	L	0.29908	0.895	0.33367	D	0.573112	D	0.89917	1.0	D	0.80764	0.994	T	0.14090	-1.0485	10	0.49607	T	0.09	.	12.7444	0.57273	1.0:0.0:0.0:0.0	.	653	Q8NFU7	TET1_HUMAN	E	653	ENSP00000362748:K653E	ENSP00000362748:K653E	K	+	1	0	TET1	70030786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.771000	0.55318	2.255000	0.74692	0.533000	0.62120	AAA		0.308	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		18	61	0	0	0	0.055883	0	18	61				
HKDC1	80201	broad.mit.edu	37	10	71026381	71026382	+	Nonsense_Mutation	DNP	GC	GC	TT			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr10:71026381_71026382GC>TT	ENST00000354624.5	+	18	2755_2756	c.2622_2623GC>TT	c.(2620-2625)ttGCag>ttTTag	p.874_875LQ>F*	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	874	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTAGAATATTGCAGGAAACTGT	0.401																																							uc001jpf.3		NA																	0				ovary(4)|skin(1)	5						c.(2620-2625)TTGCAG>TTTTAG		hexokinase domain containing 1																																				SO:0001587	stop_gained	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71026381_71026382GC>TT		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	Exception_encountered	10.37:g.71026381_71026382delinsTT	ENSP00000346643:p.L874_Q875delinsF*					HKDC1_uc010qje.1_Nonsense_Mutation_p.737_738LQ>F*|HKDC1_uc009xqb.2_RNA	p.874_875LQ>F*	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN			18	2755_2756	+			874_875					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Nonsense_Mutation	DNP	ENST00000354624.5	37	c.2622_2623GC>TT	CCDS7288.1																																																																																				0.401	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		25	88	0	0	0	0.004672	0	25	88				
PNLIPRP3	119548	broad.mit.edu	37	10	118203905	118203905	+	Silent	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr10:118203905G>A	ENST00000369230.3	+	4	482	c.336G>A	c.(334-336)caG>caA	p.Q112Q		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	112					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TGTTGCTACAGCTGGAAGATA	0.358																																							uc001lcl.3		NA																	0				ovary(1)	1						c.(334-336)CAG>CAA		pancreatic lipase-related protein 3 precursor							88.0	83.0	84.0					10																	118203905		2203	4300	6503	SO:0001819	synonymous_variant	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118203905G>A	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.336G>A	10.37:g.118203905G>A							p.Q112Q	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	4	437	+			112						Silent	SNP	ENST00000369230.3	37	c.336G>A	CCDS31292.1																																																																																				0.358	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		9	38	0	0	0	0.047766	0	9	38				
TACC2	10579	broad.mit.edu	37	10	123997538	123997538	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr10:123997538A>T	ENST00000369005.1	+	18	8674	c.8334A>T	c.(8332-8334)gaA>gaT	p.E2778D	TACC2_ENST00000369001.1_Missense_Mutation_p.E405D|TACC2_ENST00000358010.1_Missense_Mutation_p.E924D|TACC2_ENST00000368999.1_Missense_Mutation_p.E868D|TACC2_ENST00000453444.2_Missense_Mutation_p.E2705D|TACC2_ENST00000515603.1_Missense_Mutation_p.E2656D|TACC2_ENST00000515273.1_Missense_Mutation_p.E2705D|TACC2_ENST00000369000.1_Missense_Mutation_p.E401D|TACC2_ENST00000260733.3_Missense_Mutation_p.E856D|TACC2_ENST00000334433.3_Missense_Mutation_p.E2778D|TACC2_ENST00000369004.3_Missense_Mutation_p.E838D|TACC2_ENST00000360561.3_Missense_Mutation_p.E826D|TACC2_ENST00000513429.1_Missense_Mutation_p.E924D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2778					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCAGGCGGGAAGTGATGGAAA	0.473																																							uc001lfv.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(8332-8334)GAA>GAT		transforming, acidic coiled-coil containing							124.0	129.0	127.0					10																	123997538		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123997538A>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8334A>T	10.37:g.123997538A>T	ENSP00000358001:p.Glu2778Asp					TACC2_uc001lfw.2_Missense_Mutation_p.E924D|TACC2_uc009xzx.2_Missense_Mutation_p.E2656D|TACC2_uc010qtv.1_Missense_Mutation_p.E2705D|TACC2_uc001lfx.2_Missense_Mutation_p.E405D|TACC2_uc001lfy.2_Missense_Mutation_p.E401D|TACC2_uc001lfz.2_Missense_Mutation_p.E856D|TACC2_uc001lga.2_Missense_Mutation_p.E826D|TACC2_uc009xzy.2_Missense_Mutation_p.E838D|TACC2_uc001lgb.2_Missense_Mutation_p.E736D	p.E2778D	NM_206862	NP_996744	O95359	TACC2_HUMAN			18	8694	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2778			Potential.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.8334A>T	CCDS7626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.35|19.35	3.810239|3.810239	0.70797|0.70797	.|.	.|.	ENSG00000138162|ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733|ENST00000490979	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.48522|.	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81|.	4.94|4.94	2.59|2.59	0.31030|0.31030	.|.	0.000000|.	0.36200|.	N|.	0.002736|.	T|T	0.48732|0.48732	0.1516|0.1516	L|L	0.58810|0.58810	1.83|1.83	0.29327|0.29327	N|N	0.866948|0.866948	D;D;D;D;D;P;B;P;D|.	0.89917|.	0.998;0.998;1.0;0.999;1.0;0.703;0.383;0.703;1.0|.	D;D;D;D;D;P;B;P;D|.	0.91635|.	0.998;0.996;0.999;0.998;0.999;0.66;0.413;0.66;0.999|.	T|T	0.43893|0.43893	-0.9363|-0.9363	10|5	0.52906|.	T|.	0.07|.	-15.9816|-15.9816	8.2593|8.2593	0.31775|0.31775	0.8427:0.0:0.1573:0.0|0.8427:0.0:0.1573:0.0	.|.	2705;838;2656;2705;826;856;401;924;2778|.	E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359|.	.;.;.;.;.;.;.;.;TACC2_HUMAN|.	D|M	2778;924;2705;2656;2778;924;2705;2691;405;401;826;868;838;856|22	ENSP00000358001:E2778D;ENSP00000425062:E924D;ENSP00000424467:E2705D;ENSP00000427618:E2656D;ENSP00000334280:E2778D;ENSP00000350701:E924D;ENSP00000395048:E2705D;ENSP00000357997:E405D;ENSP00000357996:E401D;ENSP00000353763:E826D;ENSP00000357995:E868D;ENSP00000422815:E838D;ENSP00000260733:E856D|.	ENSP00000260733:E856D|.	E|K	+|+	3|2	2|0	TACC2|TACC2	123987528|123987528	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	1.069000|1.069000	0.30641|0.30641	0.324000|0.324000	0.23333|0.23333	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.473	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			9	25	0	0	0	0.008291	0	9	25				
Unknown	0	broad.mit.edu	37	10	135491123	135491123	+	IGR	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr10:135491123G>A								AL845259.1 (17944 upstream) : None (None downstream)																							GCCCACACCGGCGCGTGGGGA	0.786																																							uc010qvi.1		NA																	0					0						c.(733-735)GGC>GAC		double homeobox, 4-like							12.0	12.0	12.0					10																	135491123		1087	2139	3226	SO:0001628	intergenic_variant	653544					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135491123G>A																													10.37:g.135491123G>A							p.G245D	NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN			1	845	+			245						Missense_Mutation	SNP		37	c.734G>A																																																																																				0	0.786									7	35	0	0	0	0.0333	0	7	35				
OR51S1	119692	broad.mit.edu	37	11	4869599	4869599	+	Silent	SNP	A	A	G			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr11:4869599A>G	ENST00000322101.2	-	1	915	c.840T>C	c.(838-840)caT>caC	p.H280H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGAAGAGTATGGGTATGCT	0.448																																							uc010qyo.1		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(838-840)CAT>CAC		olfactory receptor, family 51, subfamily S,							136.0	122.0	127.0					11																	4869599		2201	4298	6499	SO:0001819	synonymous_variant	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869599A>G	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.840T>C	11.37:g.4869599A>G							p.H280H	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	840	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	280			Extracellular (Potential).		B9EGZ1|Q6IFI2	Silent	SNP	ENST00000322101.2	37	c.840T>C	CCDS31362.1																																																																																				0.448	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		34	87	0	0	0	0.054565	0	34	87				
OR51G2	81282	broad.mit.edu	37	11	4936874	4936874	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr11:4936874C>A	ENST00000322013.3	-	1	48	c.20G>T	c.(19-21)gGa>gTa	p.G7V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGCTGTTTCCCAGGGATCC	0.547																																							uc001lzr.1		NA																	0				skin(2)	2						c.(19-21)GGA>GTA		olfactory receptor, family 51, subfamily G,							35.0	35.0	35.0					11																	4936874		2201	4297	6498	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936874C>A	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.20G>T	11.37:g.4936874C>A	ENSP00000322593:p.Gly7Val						p.G7V	NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	20	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	7			Extracellular (Potential).		Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.20G>T	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	C	9.773	1.173135	0.21704	.	.	ENSG00000176893	ENST00000322013	T	0.00591	6.35	4.88	-2.25	0.06888	.	0.925291	0.08835	N	0.886664	T	0.00384	0.0012	N	0.17594	0.5	0.09310	N	0.999995	B	0.20052	0.041	B	0.18263	0.021	T	0.37337	-0.9710	10	0.16420	T	0.52	.	4.834	0.13454	0.0:0.1998:0.3173:0.4829	.	7	Q8NGK0	O51G2_HUMAN	V	7	ENSP00000322593:G7V	ENSP00000322593:G7V	G	-	2	0	OR51G2	4893450	0.000000	0.05858	0.000000	0.03702	0.559000	0.35586	-0.536000	0.06135	-0.249000	0.09569	0.655000	0.94253	GGA		0.547	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		18	43	1	0	5.3912e-06	0.038395	6.17868e-06	18	43				
USP47	55031	broad.mit.edu	37	11	11964407	11964407	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr11:11964407A>T	ENST00000399455.2	+	21	3019	c.2899A>T	c.(2899-2901)Agc>Tgc	p.S967C	USP47_ENST00000527733.1_Missense_Mutation_p.S947C|USP47_ENST00000339865.5_Missense_Mutation_p.S879C|USP47_ENST00000539466.1_5'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	967					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CTCCAGTCATAGCAGTGATAC	0.403																																							uc001mjq.1		NA																	0				ovary(1)|skin(1)	2						c.(2899-2901)AGC>TGC		ubiquitin specific protease 47							166.0	150.0	155.0					11																	11964407		1958	4158	6116	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11964407A>T	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2899A>T	11.37:g.11964407A>T	ENSP00000382382:p.Ser967Cys					USP47_uc001mjr.2_Missense_Mutation_p.S879C|USP47_uc001mjs.2_Missense_Mutation_p.S947C|USP47_uc001mjt.1_Missense_Mutation_p.S253C	p.S967C	NM_017944	NP_060414	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	21	3662	+			967					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.2899A>T		.	.	.	.	.	.	.	.	.	.	A	22.6	4.309432	0.81247	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455;ENST00000540365	T;T;T	0.05025	3.52;3.51;3.51	6.02	6.02	0.97574	.	0.035038	0.85682	D	0.000000	T	0.15132	0.0365	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.79108	0.981;0.981;0.992	T	0.02837	-1.1104	10	0.66056	D	0.02	.	16.1925	0.82004	1.0:0.0:0.0:0.0	.	967;947;879	Q96K76;E9PM46;Q96K76-2	UBP47_HUMAN;.;.	C	879;947;967;164	ENSP00000339957:S879C;ENSP00000433146:S947C;ENSP00000382382:S967C	ENSP00000339957:S879C	S	+	1	0	USP47	11920983	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	8.962000	0.93254	2.306000	0.77630	0.482000	0.46254	AGC		0.403	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		27	91	0	0	0	0.027356	0	27	91				
KCNA4	3739	broad.mit.edu	37	11	30034020	30034020	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr11:30034020C>A	ENST00000328224.6	-	2	1439	c.206G>T	c.(205-207)gGg>gTg	p.G69V	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	69					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GGTACAGGCCCCGCGTGACTG	0.657																																							uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(205-207)GGG>GTG		potassium voltage-gated channel, shaker-related							38.0	41.0	40.0					11																	30034020		1961	4141	6102	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034020C>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.206G>T	11.37:g.30034020C>A	ENSP00000328511:p.Gly69Val						p.G69V	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1358	-			69						Missense_Mutation	SNP	ENST00000328224.6	37	c.206G>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916642	0.33815	.	.	ENSG00000182255	ENST00000328224	D	0.96856	-4.15	4.75	3.82	0.43975	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	7739.210000	0.00166	N	0.000000	D	0.93284	0.7860	N	0.14661	0.345	0.58432	D	0.999997	B	0.17268	0.021	B	0.12837	0.008	T	0.72972	-0.4129	10	0.72032	D	0.01	.	13.5063	0.61485	0.0:0.7006:0.2994:0.0	.	69	P22459	KCNA4_HUMAN	V	69	ENSP00000328511:G69V	ENSP00000328511:G69V	G	-	2	0	KCNA4	29990596	0.004000	0.15560	0.222000	0.23844	0.440000	0.31957	1.640000	0.37186	0.986000	0.38683	0.491000	0.48974	GGG		0.657	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		20	49	1	0	8.10497e-08	0.055883	9.84175e-08	20	49				
OR10AG1	282770	broad.mit.edu	37	11	55735796	55735796	+	Silent	SNP	A	A	G			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr11:55735796A>G	ENST00000312345.2	-	1	194	c.144T>C	c.(142-144)acT>acC	p.T48T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AATACATGGGAGTCTGGAGAG	0.338																																							uc010rit.1		NA																	0				skin(2)	2						c.(142-144)ACT>ACC		olfactory receptor, family 10, subfamily AG,							52.0	59.0	57.0					11																	55735796		2198	4294	6492	SO:0001819	synonymous_variant	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735796A>G	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.144T>C	11.37:g.55735796A>G							p.T48T	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	144	-	Esophageal squamous(21;0.0137)		48			Helical; Name=2; (Potential).		B2RNH4|Q6IEU3	Silent	SNP	ENST00000312345.2	37	c.144T>C	CCDS31514.1																																																																																				0.338	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		6	113	0	0	0	0.021553	0	6	113				
OR5R1	219479	broad.mit.edu	37	11	56185334	56185334	+	Silent	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr11:56185334G>T	ENST00000312253.1	-	1	374	c.375C>A	c.(373-375)gcC>gcA	p.A125A		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GACTACAGATGGCGACATAGC	0.468																																							uc010rji.1		NA																	0				ovary(2)	2						c.(373-375)GCC>GCA		olfactory receptor, family 5, subfamily R,							107.0	104.0	105.0					11																	56185334		2201	4296	6497	SO:0001819	synonymous_variant	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185334G>T	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.375C>A	11.37:g.56185334G>T							p.A125A	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	375	-	Esophageal squamous(21;0.00448)		125			Cytoplasmic (Potential).			Silent	SNP	ENST00000312253.1	37	c.375C>A	CCDS31530.1																																																																																				0.468	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		15	74	1	0	2.32078e-09	0.024245	2.90454e-09	15	74				
ZP1	22917	broad.mit.edu	37	11	60642986	60642986	+	Splice_Site	SNP	G	G	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr11:60642986G>C	ENST00000278853.5	+	12	1774		c.e12-1			NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)						binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTCTCTGACAGACTCCAATGG	0.592																																							uc001nqd.2		NA																	0					0						c.e12-1		zona pellucida glycoprotein 1 precursor							66.0	55.0	59.0					11																	60642986		2203	4299	6502	SO:0001630	splice_region_variant	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60642986G>C	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1775-1G>C	11.37:g.60642986G>C						ZP1_uc001nqe.2_Splice_Site_p.D299_splice	p.D592_splice	NM_207341	NP_997224	P60852	ZP1_HUMAN			12	1795	+									Splice_Site	SNP	ENST00000278853.5	37	c.1775_splice	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782015	0.31502	.	.	ENSG00000149506	ENST00000278853;ENST00000544498	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3316	0.60490	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZP1	60399562	1.000000	0.71417	0.193000	0.23327	0.002000	0.02628	3.941000	0.56607	2.409000	0.81822	0.655000	0.94253	.		0.592	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341	Intron	8	23	0	0	0	0.006214	0	8	23				
DAK	26007	broad.mit.edu	37	11	61109956	61109956	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr11:61109956C>T	ENST00000394900.3	+	8	908	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	227	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AGCTGGTGTGCGCCGGATAAA	0.592																																							uc001nre.2		NA																	0					0						c.(679-681)CGC>TGC		dihydroxyacetone kinase 2							109.0	115.0	113.0					11																	61109956		2203	4299	6502	SO:0001583	missense	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61109956C>T		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.679C>T	11.37:g.61109956C>T	ENSP00000378360:p.Arg227Cys					DDB1_uc010rlf.1_5'UTR|DAK_uc009ynm.1_Missense_Mutation_p.R157C	p.R227C	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN			8	936	+			227			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.679C>T	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031020	0.54790	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.30981	1.51;1.51	5.67	4.76	0.60689	Dak kinase (2);	0.169984	0.51477	N	0.000090	T	0.33089	0.0851	L	0.59912	1.85	0.58432	D	0.999994	B;B	0.18013	0.025;0.009	B;B	0.18561	0.019;0.022	T	0.11299	-1.0593	10	0.56958	D	0.05	-4.0481	14.7626	0.69617	0.0:0.9303:0.0:0.0697	.	227;227	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	C	227;226	ENSP00000378360:R227C;ENSP00000432539:R226C	ENSP00000378360:R227C	R	+	1	0	DAK	60866532	0.974000	0.33945	1.000000	0.80357	0.910000	0.53928	2.507000	0.45442	1.397000	0.46682	0.563000	0.77884	CGC		0.592	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		19	88	0	0	0	0.038395	0	19	88				
KMT2A	4297	broad.mit.edu	37	11	118339515	118339515	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr11:118339515C>T	ENST00000389506.5	+	2	458	c.458C>T	c.(457-459)tCa>tTa	p.S153L	KMT2A_ENST00000534358.1_Missense_Mutation_p.S153L|KMT2A_ENST00000354520.4_Missense_Mutation_p.S153L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	153					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GGTTTTGGCTCAGATGAAGAA	0.403																																							uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(457-459)TCA>TTA		myeloid/lymphoid or mixed-lineage leukemia							138.0	120.0	126.0					11																	118339515		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118339515C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.458C>T	11.37:g.118339515C>T	ENSP00000374157:p.Ser153Leu					MLL_uc001ptb.2_Missense_Mutation_p.S153L|MLL_uc001psz.1_Missense_Mutation_p.S186L|MLL_uc001ptd.1_5'UTR	p.S153L	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	2	481	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	153					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.458C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459144	0.84317	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000328469;ENST00000527869;ENST00000533790;ENST00000389507	D;T;D;D	0.82526	-1.62;2.13;-1.62;-1.6	5.46	5.46	0.80206	.	0.165341	0.42682	D	0.000666	T	0.73721	0.3623	N	0.24115	0.695	0.47153	D	0.999331	B;B;B	0.15719	0.014;0.014;0.014	B;B;B	0.12156	0.007;0.007;0.007	T	0.70368	-0.4891	10	0.59425	D	0.04	.	13.5929	0.61969	0.0:0.9258:0.0:0.0742	.	153;153;186	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	L	153;186;153;153;186;103;70;12	ENSP00000436786:S153L;ENSP00000432391:S186L;ENSP00000374157:S153L;ENSP00000346516:S153L	ENSP00000333556:S186L	S	+	2	0	MLL	117844725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.089000	0.57685	2.557000	0.86248	0.563000	0.77884	TCA		0.403	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		22	51	0	0	0	0.014323	0	22	51				
GALNT8	26290	broad.mit.edu	37	12	4881631	4881631	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr12:4881631A>C	ENST00000252318.2	+	11	2119	c.1782A>C	c.(1780-1782)agA>agC	p.R594S		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	594	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TCATAAACAGAGATACCAAGC	0.522																																					Colon(108;631 1558 7270 20097 39846)	Colon(108;631 1558 7270 20097 39846)	uc001qne.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1780-1782)AGA>AGC		polypeptide N-acetylgalactosaminyltransferase 8							97.0	92.0	94.0					12																	4881631		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4881631A>C	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1782A>C	12.37:g.4881631A>C	ENSP00000252318:p.Arg594Ser						p.R594S	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			11	1874	+			594			Ricin B-type lectin.|Lumenal (Potential).		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.1782A>C	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	a	14.09	2.430898	0.43122	.	.	ENSG00000130035	ENST00000252318	T	0.28666	1.6	3.83	-1.69	0.08186	Ricin B-related lectin (1);Ricin B lectin (3);	0.122413	0.51477	D	0.000095	T	0.46483	0.1395	M	0.79693	2.465	0.09310	N	0.999999	D	0.65815	0.995	D	0.63877	0.919	T	0.38265	-0.9669	10	0.41790	T	0.15	.	8.0761	0.30718	0.4887:0.0:0.5113:0.0	.	594	Q9NY28	GALT8_HUMAN	S	594	ENSP00000252318:R594S	ENSP00000252318:R594S	R	+	3	2	GALNT8	4751892	0.102000	0.21896	0.009000	0.14445	0.029000	0.11900	0.339000	0.19875	-0.671000	0.05274	-0.147000	0.13772	AGA		0.522	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		21	57	0	0	0	0.055883	0	21	57				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000311936.3_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)GGT>TGT		c-K-ras2 protein isoform a precursor							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	p.G12C	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	215	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		7	20	1	0	2.0095e-06	0.02938	2.3425e-06	7	20				
FAIM2	23017	broad.mit.edu	37	12	50264295	50264295	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr12:50264295G>C	ENST00000320634.3	-	12	1037	c.943C>G	c.(943-945)Cga>Gga	p.R315G	FAIM2_ENST00000550890.1_Missense_Mutation_p.R269G	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	315					apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						CCTCATTCTCGGTTAGTGCCA	0.537																																							uc001rvj.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(943-945)CGA>GGA		Fas apoptotic inhibitory molecule 2							91.0	82.0	85.0					12																	50264295		2203	4300	6503	SO:0001583	missense	23017				anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane		g.chr12:50264295G>C	AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 2"""	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.943C>G	12.37:g.50264295G>C	ENSP00000321951:p.Arg315Gly					FAIM2_uc001rvi.1_Missense_Mutation_p.R269G|FAIM2_uc001rvk.1_RNA	p.R315G	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN			12	1088	-			315					A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Missense_Mutation	SNP	ENST00000320634.3	37	c.943C>G	CCDS8791.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550543	0.65311	.	.	ENSG00000135472	ENST00000320634;ENST00000550890;ENST00000550635	T;T	0.60299	0.66;0.2	4.5	3.59	0.41128	.	0.202878	0.44483	D	0.000454	T	0.63698	0.2533	M	0.84156	2.68	0.58432	D	0.999996	P	0.48407	0.91	P	0.45753	0.492	T	0.69343	-0.5170	10	0.59425	D	0.04	-15.9939	11.5296	0.50601	0.0:0.0:0.8194:0.1806	.	315	Q9BWQ8	FAIM2_HUMAN	G	315;269;315	ENSP00000321951:R315G;ENSP00000450132:R269G	ENSP00000321951:R315G	R	-	1	2	FAIM2	48550562	0.985000	0.35326	1.000000	0.80357	0.891000	0.51852	2.849000	0.48286	1.105000	0.41606	-0.311000	0.09066	CGA		0.537	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405984.1	NM_012306		25	64	0	0	0	0.024334	0	25	64				
CBX5	23468	broad.mit.edu	37	12	54645824	54645824	+	Splice_Site	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr12:54645824C>T	ENST00000439541.2	-	3	450		c.e3+1		CBX5_ENST00000209875.4_Splice_Site|CBX5_ENST00000550411.1_Splice_Site	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5						blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						AGGAAGCTTACCTCTCTCTTT	0.323																																					Colon(153;588 2459 18334 48613)	Colon(153;588 2459 18334 48613)	uc001sfh.3		NA																	0					0						c.e3+1		heterochromatin protein 1-alpha							142.0	146.0	145.0					12																	54645824		2203	4300	6503	SO:0001630	splice_region_variant	23468				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	g.chr12:54645824C>T	U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.324+1G>A	12.37:g.54645824C>T						CBX5_uc001sfk.3_Splice_Site_p.E108_splice|CBX5_uc001sfi.3_Splice_Site_p.E108_splice|CBX5_uc001sfj.3_Splice_Site_p.E108_splice	p.E108_splice	NM_001127322	NP_001120794	P45973	CBX5_HUMAN			3	642	-								B2R8T9	Splice_Site	SNP	ENST00000439541.2	37	c.324_splice	CCDS8875.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097558	0.76870	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2041	0.82108	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBX5	52932091	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.116000	0.77119	2.778000	0.95560	0.655000	0.94253	.		0.323	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117	Intron	26	131	0	0	0	0.030593	0	26	131				
RAB3IP	117177	broad.mit.edu	37	12	70178569	70178569	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr12:70178569G>A	ENST00000247833.7	+	4	956	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	RAB3IP_ENST00000553099.1_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.E194K|RAB3IP_ENST00000362025.5_Missense_Mutation_p.E210K|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000551641.1_5'UTR|RAB3IP_ENST00000378815.6_Missense_Mutation_p.E194K|RAB3IP_ENST00000550536.1_Missense_Mutation_p.E210K					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ACAGGAATTGGAAGAACTCAC	0.343																																							uc001svp.2		NA																	0				ovary(1)	1						c.(628-630)GAA>AAA		RAB3A interacting protein isoform alpha 2							125.0	118.0	121.0					12																	70178569		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70178569G>A		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.580G>A	12.37:g.70178569G>A	ENSP00000247833:p.Glu194Lys					RAB3IP_uc001svl.1_Missense_Mutation_p.E194K|RAB3IP_uc001svm.2_Missense_Mutation_p.E194K|RAB3IP_uc001svn.2_Missense_Mutation_p.E194K|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Missense_Mutation_p.E210K|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA|RAB3IP_uc001svt.2_5'UTR	p.E210K	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		4	1075	+	Esophageal squamous(21;0.187)		210			Potential.			Missense_Mutation	SNP	ENST00000247833.7	37	c.628G>A	CCDS8995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.555699|5.555699	0.96514|0.96514	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000550536;ENST00000362025;ENST00000547055|ENST00000550647	T;T;T;T;T;T|.	0.60920|.	0.15;1.0;0.15;0.15;0.15;0.15|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82811|0.82811	0.5118|0.5118	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.997;1.0;0.998|.	D;D;D;D|.	0.85130|.	0.997;0.992;0.997;0.994|.	T|T	0.82723|0.82723	-0.0316|-0.0316	10|5	0.72032|.	D|.	0.01|.	.|.	20.1935|20.1935	0.98237|0.98237	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	210;210;194;194|.	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7|.	.;RAB3I_HUMAN;.;.|.	K|E	194;194;194;210;210;71|83	ENSP00000247833:E194K;ENSP00000368092:E194K;ENSP00000419216:E194K;ENSP00000447300:E210K;ENSP00000355381:E210K;ENSP00000448688:E71K|.	ENSP00000247833:E194K|.	E|G	+|+	1|2	0|0	RAB3IP|RAB3IP	68464836|68464836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.976000|8.976000	0.93442|0.93442	2.779000|2.779000	0.95612|0.95612	0.591000|0.591000	0.81541|0.81541	GAA|GGA		0.343	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		18	69	0	0	0	0.049695	0	18	69				
SLC17A8	246213	broad.mit.edu	37	12	100806591	100806591	+	Silent	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr12:100806591G>A	ENST00000323346.5	+	10	1543	c.1230G>A	c.(1228-1230)tcG>tcA	p.S410S	SLC17A8_ENST00000392989.3_Silent_p.S360S|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	410					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTGGCTTTTCGCATACCAAAG	0.448																																							uc010svi.1		NA																	0				ovary(3)	3						c.(1228-1230)TCG>TCA		solute carrier family 17 (sodium-dependent							283.0	252.0	262.0					12																	100806591		2203	4300	6503	SO:0001819	synonymous_variant	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100806591G>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1230G>A	12.37:g.100806591G>A						SLC17A8_uc009ztx.2_Silent_p.S360S	p.S410S	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			10	1543	+			410			Helical; (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	ENST00000323346.5	37	c.1230G>A	CCDS9077.1																																																																																				0.448	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		31	116	0	0	0	0.025465	0	31	116				
STAB2	55576	broad.mit.edu	37	12	104077048	104077048	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr12:104077048C>A	ENST00000388887.2	+	26	3075	c.2871C>A	c.(2869-2871)tgC>tgA	p.C957*		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TAACTTCATGCTTGGAACAAA	0.323																																							uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(2869-2871)TGC>TGA		stabilin 2 precursor							167.0	154.0	158.0					12																	104077048		2203	4300	6503	SO:0001587	stop_gained	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104077048C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2871C>A	12.37:g.104077048C>A	ENSP00000373539:p.Cys957*						p.C957*	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			26	3057	+			957			Extracellular (Potential).|EGF-like 10.			Nonsense_Mutation	SNP	ENST00000388887.2	37	c.2871C>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	40	8.403316	0.98796	.	.	ENSG00000136011	ENST00000388887	.	.	.	5.9	2.09	0.27110	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1962	0.43056	0.0:0.6696:0.0:0.3304	.	.	.	.	X	957	.	ENSP00000373539:C957X	C	+	3	2	STAB2	102601178	1.000000	0.71417	0.998000	0.56505	0.465000	0.32709	0.955000	0.29188	0.422000	0.26005	-0.218000	0.12543	TGC		0.323	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			26	62	1	0	1.30897e-18	0.041601	1.92108e-18	26	62				
ALKBH2	121642	broad.mit.edu	37	12	109530431	109530431	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr12:109530431C>G	ENST00000429722.2	-	2	524	c.161G>C	c.(160-162)gGc>gCc	p.G54A	ALKBH2_ENST00000440112.2_Missense_Mutation_p.G54A|ALKBH2_ENST00000343075.3_Missense_Mutation_p.G54A	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	54					DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CCAGCTAGGGCCTGCTGAGTG	0.567								Direct reversal of damage																															uc001tnx.2		NA																	0					0						c.(160-162)GGC>GCC	Direct_reversal_of_damage	AlkB homolog 2	Vitamin C(DB00126)						129.0	138.0	135.0					12																	109530431		2203	4300	6503	SO:0001583	missense	121642				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:109530431C>G	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.161G>C	12.37:g.109530431C>G	ENSP00000398181:p.Gly54Ala					ALKBH2_uc001tny.2_Missense_Mutation_p.G54A|ALKBH2_uc010sxj.1_Missense_Mutation_p.G54A|ALKBH2_uc009zvd.2_Missense_Mutation_p.G54A|ALKBH2_uc010sxk.1_Missense_Mutation_p.G54A	p.G54A	NM_001145374	NP_001138846	Q6NS38	ALKB2_HUMAN			2	554	-			54					A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	c.161G>C	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591860	0.66219	.	.	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370;ENST00000440112;ENST00000540305;ENST00000536242;ENST00000536358	T;T	0.22336	1.96;1.96	5.76	1.44	0.22558	.	1.011480	0.07922	N	0.975974	T	0.12518	0.0304	L	0.27053	0.805	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.14023	0.01;0.001	T	0.41360	-0.9513	10	0.10902	T	0.67	-3.3154	5.1371	0.14941	0.0:0.3884:0.3437:0.2679	.	54;54	A4PET2;Q6NS38	.;ALKB2_HUMAN	A	54	ENSP00000398181:G54A;ENSP00000343021:G54A	ENSP00000343021:G54A	G	-	2	0	ALKBH2	108014814	0.000000	0.05858	0.002000	0.10522	0.299000	0.27559	-0.343000	0.07791	-0.039000	0.13602	0.563000	0.77884	GGC		0.567	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		30	114	0	0	0	0.037714	0	30	114				
OAS1	4938	broad.mit.edu	37	12	113357335	113357335	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr12:113357335G>A	ENST00000202917.5	+	6	1443	c.1180G>A	c.(1180-1182)Gac>Aac	p.D394N	OAS1_ENST00000551241.1_Intron|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.G361E	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	394					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GGCAGAAGAGGACTGGACCTG	0.507																																							uc001tud.2		NA																	0				ovary(2)	2						c.(1180-1182)GAC>AAC		2',5'-oligoadenylate synthetase 1 isoform 1							116.0	100.0	106.0					12																	113357335		2203	4300	6503	SO:0001583	missense	4938				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113357335G>A	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.1180G>A	12.37:g.113357335G>A	ENSP00000202917:p.Asp394Asn					OAS1_uc001tuc.2_Missense_Mutation_p.G361E|OAS1_uc009zwf.2_Intron	p.D394N	NM_016816	NP_058132	P00973	OAS1_HUMAN			6	1286	+			394					A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	c.1180G>A	CCDS41838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.665|8.665	0.901382|0.901382	0.17760|0.17760	.|.	.|.	ENSG00000089127|ENSG00000089127	ENST00000202917|ENST00000445409	T|T	0.05513|0.07800	3.43|3.16	3.46|3.46	-6.92|-6.92	0.01644|0.01644	.|.	.|43.297700	.|0.00166	.|N	.|0.000000	T|T	0.03520|0.03520	0.0101|0.0101	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.01281	0.0|0.0	T|T	0.41197|0.41197	-0.9522|-0.9522	9|10	0.02654|0.02654	T|T	1|1	.|.	9.0451|9.0451	0.36341|0.36341	0.2842:0.1414:0.5743:0.0|0.2842:0.1414:0.5743:0.0	.|.	394|361	P00973|P00973-3	OAS1_HUMAN|.	N|E	394|361	ENSP00000202917:D394N|ENSP00000388001:G361E	ENSP00000202917:D394N|ENSP00000388001:G361E	D|G	+|+	1|2	0|0	OAS1|OAS1	111841718|111841718	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	-1.128000|-1.128000	0.03247|0.03247	-1.910000|-1.910000	0.01083|0.01083	-1.159000|-1.159000	0.01794|0.01794	GAC|GGA		0.507	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			14	69	0	0	0	0.028581	0	14	69				
STARD13	90627	broad.mit.edu	37	13	33701594	33701594	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr13:33701594A>T	ENST00000336934.5	-	6	1954	c.1838T>A	c.(1837-1839)cTg>cAg	p.L613Q	STARD13_ENST00000399365.3_Missense_Mutation_p.L495Q|STARD13_ENST00000255486.4_Missense_Mutation_p.L605Q	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	613					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GAGCAGGCTCAGCTGGCTGGC	0.627																																							uc001uuw.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1837-1839)CTG>CAG		StAR-related lipid transfer (START) domain							39.0	32.0	34.0					13																	33701594		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33701594A>T	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1838T>A	13.37:g.33701594A>T	ENSP00000338785:p.Leu613Gln					STARD13_uc001uuu.2_Missense_Mutation_p.L605Q|STARD13_uc001uuv.2_Missense_Mutation_p.L495Q|STARD13_uc001uux.2_Missense_Mutation_p.L578Q|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.L598Q	p.L613Q	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	6	1964	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	613					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.1838T>A	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.185944	0.78789	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.08984	3.03;3.04;3.04	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.31734	0.0806	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.999;1.0	D;D;D;D	0.87578	0.998;0.99;0.977;0.994	T	0.06607	-1.0817	10	0.66056	D	0.02	.	15.4434	0.75208	1.0:0.0:0.0:0.0	.	605;578;613;605	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	Q	495;605;613;605	ENSP00000382300:L495Q;ENSP00000255486:L605Q;ENSP00000338785:L613Q	ENSP00000255486:L605Q	L	-	2	0	STARD13	32599594	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.233000	0.95337	2.064000	0.61679	0.533000	0.62120	CTG		0.627	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		10	16	0	0	0	0.006214	0	10	16				
NBEA	26960	broad.mit.edu	37	13	36167537	36167537	+	Missense_Mutation	SNP	G	G	A	rs116439886	byFrequency	TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr13:36167537G>A	ENST00000400445.3	+	47	7783	c.7249G>A	c.(7249-7251)Gtt>Att	p.V2417I	NBEA_ENST00000379939.2_Missense_Mutation_p.V2414I|NBEA_ENST00000540320.1_Missense_Mutation_p.V2417I|NBEA_ENST00000310336.4_Missense_Mutation_p.V2417I|NBEA_ENST00000379922.3_De_novo_Start_OutOfFrame|NBEA_ENST00000537702.1_Missense_Mutation_p.V210I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2417	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTCTCATCCGTTGCAAGGTC	0.338													G|||	14	0.00279553	0.0106	0.0	5008	,	,		18676	0.0		0.0	False		,,,				2504	0.0						uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(7249-7251)GTT>ATT		neurobeachin		G	ILE/VAL,ILE/VAL	65,3611		0,65,1773	141.0	128.0	132.0		628,7249	3.9	0.0	13	dbSNP_132	132	3,8167		0,3,4082	yes	missense,missense	NBEA	NM_001204197.1,NM_015678.4	29,29	0,68,5855	AA,AG,GG		0.0367,1.7682,0.574	benign,benign	210/740,2417/2947	36167537	68,11778	1838	4085	5923	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36167537G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7249G>A	13.37:g.36167537G>A	ENSP00000383295:p.Val2417Ile					NBEA_uc010abi.2_Missense_Mutation_p.V1073I|NBEA_uc010tee.1_Missense_Mutation_p.V210I|NBEA_uc010tef.1_Missense_Mutation_p.V210I|NBEA_uc010teg.1_Missense_Mutation_p.V210I|NBEA_uc001uvd.2_5'UTR	p.V2417I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	47	7455	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2417			BEACH.		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.7249G>A	CCDS45026.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	7.157	0.584976	0.13749	0.017682	3.67E-4	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14	5.78	3.94	0.45596	BEACH domain (4);	0.161006	0.53938	N	0.000042	T	0.13927	0.0337	N	0.02802	-0.49	0.42066	D	0.991185	B;B	0.02656	0.0;0.0	B;B	0.15870	0.014;0.002	T	0.14952	-1.0454	10	0.02654	T	1	.	9.5235	0.39149	0.184:0.0:0.816:0.0	.	2417;2414	Q8NFP9;Q5T321	NBEA_HUMAN;.	I	2417;2417;2414;2417;1044;210;210	ENSP00000440951:V2417I;ENSP00000383295:V2417I;ENSP00000369271:V2414I;ENSP00000308534:V2417I;ENSP00000440233:V210I	ENSP00000308534:V2417I	V	+	1	0	NBEA	35065537	1.000000	0.71417	0.018000	0.16275	0.933000	0.57130	3.580000	0.53907	0.673000	0.31224	0.557000	0.71058	GTT		0.338	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		17	67	0	0	0	0.038395	0	17	67				
KBTBD7	84078	broad.mit.edu	37	13	41768338	41768338	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr13:41768338C>T	ENST00000379483.3	-	1	364	c.56G>A	c.(55-57)gGg>gAg	p.G19E		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	19										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GGGCCGCCTCCCACCACGGGG	0.657																																							uc001uxw.1		NA																	0				ovary(1)	1						c.(55-57)GGG>GAG		kelch repeat and BTB (POZ) domain containing 7							54.0	63.0	60.0					13																	41768338		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41768338C>T	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.56G>A	13.37:g.41768338C>T	ENSP00000368797:p.Gly19Glu					uc001uxv.1_Intron	p.G19E	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	365	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	19					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.56G>A	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.221500	0.39300	.	.	ENSG00000120696	ENST00000379483	T	0.73789	-0.78	4.99	2.24	0.28232	.	0.000000	0.42964	U	0.000633	T	0.71904	0.3395	N	0.24115	0.695	0.25424	N	0.988247	D	0.89917	1.0	D	0.87578	0.998	T	0.60969	-0.7157	10	0.72032	D	0.01	.	3.7244	0.08469	0.17:0.5735:0.1644:0.0922	.	19	Q8WVZ9	KBTB7_HUMAN	E	19	ENSP00000368797:G19E	ENSP00000368797:G19E	G	-	2	0	KBTBD7	40666338	0.122000	0.22280	0.693000	0.30195	0.629000	0.37895	1.341000	0.33907	0.125000	0.18397	-0.500000	0.04577	GGG		0.657	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		7	118	0	0	0	0.02938	0	7	118				
KLF12	11278	broad.mit.edu	37	13	74387411	74387411	+	Silent	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr13:74387411G>A	ENST00000377669.2	-	4	710	c.684C>T	c.(682-684)ccC>ccT	p.P228P	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Silent_p.P228P	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	228					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		ATAGGCCTCGGGGGTCCATTT	0.428																																							uc001vjf.2		NA																	0				ovary(1)	1						c.(682-684)CCC>CCT		Kruppel-like factor 12							162.0	149.0	153.0					13																	74387411		2203	4300	6503	SO:0001819	synonymous_variant	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74387411G>A	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.684C>T	13.37:g.74387411G>A						KLF12_uc010aeq.2_Silent_p.P228P|KLF12_uc001vjg.3_Silent_p.P228P	p.P228P	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	5	906	-		Prostate(6;0.00217)|Breast(118;0.0838)	228					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Silent	SNP	ENST00000377669.2	37	c.684C>T	CCDS9449.1																																																																																				0.428	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		40	83	0	0	0	0.042209	0	40	83				
OR4N2	390429	broad.mit.edu	37	14	20296223	20296223	+	Missense_Mutation	SNP	A	A	G	rs79084933		TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr14:20296223A>G	ENST00000315947.1	+	1	616	c.616A>G	c.(616-618)Atg>Gtg	p.M206V	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGTGGCCTGATGACACTCCT	0.522																																							uc010tkv.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(616-618)ATG>GTG		olfactory receptor, family 4, subfamily N,							139.0	138.0	138.0					14																	20296223		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296223A>G		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.616A>G	14.37:g.20296223A>G	ENSP00000319601:p.Met206Val						p.M206V	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	616	+	all_cancers(95;0.00108)		206			Helical; Name=5; (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.616A>G	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	2.014	-0.426294	0.04701	.	.	ENSG00000176294	ENST00000315947	T	0.00030	8.9	4.52	-0.947	0.10382	GPCR, rhodopsin-like superfamily (1);	0.472639	0.18906	N	0.127897	T	0.00039	0.0001	N	0.01242	-0.935	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.07102	-1.0790	10	0.36615	T	0.2	-2.1919	9.7197	0.40295	0.227:0.6656:0.0:0.1074	.	206	Q8NGD1	OR4N2_HUMAN	V	206	ENSP00000319601:M206V	ENSP00000319601:M206V	M	+	1	0	OR4N2	19366063	0.000000	0.05858	0.387000	0.26183	0.819000	0.46315	-1.933000	0.01553	-0.341000	0.08376	0.477000	0.44152	ATG		0.522	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			36	161	0	0	0	0.015359	0	36	161				
TEP1	7011	broad.mit.edu	37	14	20849819	20849819	+	Missense_Mutation	SNP	C	C	A	rs202032619	byFrequency	TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr14:20849819C>A	ENST00000262715.5	-	31	4491	c.4451G>T	c.(4450-4452)cGc>cTc	p.R1484L	TEP1_ENST00000545983.1_Intron|TEP1_ENST00000556935.1_Missense_Mutation_p.R1376L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1484	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGCACCAGGGCGCTCCAGAGG	0.617																																							uc001vxe.2		NA																	0				ovary(5)	5						c.(4450-4452)CGC>CTC		telomerase-associated protein 1							71.0	72.0	72.0					14																	20849819		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20849819C>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4451G>T	14.37:g.20849819C>A	ENSP00000262715:p.Arg1484Leu					TEP1_uc010ahk.2_Missense_Mutation_p.R827L|TEP1_uc010tlf.1_Intron|TEP1_uc010tlg.1_Missense_Mutation_p.R1376L|TEP1_uc010tlh.1_Intron	p.R1484L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	31	4491	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1484			NACHT.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.4451G>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514554	0.44763	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.50001	0.8;0.76	5.12	2.14	0.27477	.	0.468375	0.23652	N	0.045920	T	0.35653	0.0939	L	0.50919	1.6	0.80722	D	1	B;B;B	0.18741	0.028;0.03;0.016	B;B;B	0.20577	0.02;0.03;0.009	T	0.17806	-1.0357	10	0.31617	T	0.26	-20.9213	5.0791	0.14647	0.1456:0.6259:0.1422:0.0864	.	1376;827;1484	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	L	1484;1484;1376	ENSP00000262715:R1484L;ENSP00000452574:R1376L	ENSP00000262715:R1484L	R	-	2	0	TEP1	19919659	0.995000	0.38212	0.998000	0.56505	0.756000	0.42949	0.638000	0.24674	1.310000	0.45006	-0.219000	0.12488	CGC		0.617	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		30	52	1	0	7.26314e-15	0.034045	1.02185e-14	30	52				
MYH7	4625	broad.mit.edu	37	14	23900847	23900847	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr14:23900847G>C	ENST00000355349.3	-	8	841	c.679C>G	c.(679-681)Ctg>Gtg	p.L227V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	227	Myosin motor.		L -> V (in CMH1). {ECO:0000269|PubMed:15858117}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AAGGCCTCCAGAGCAGGGTTG	0.607																																							uc001wjx.2		NA																	0				ovary(3)|skin(1)	4	GRCh37	CM034551	MYH7	M		c.(679-681)CTG>GTG		myosin, heavy chain 7, cardiac muscle, beta							151.0	139.0	143.0					14																	23900847		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23900847G>C	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.679C>G	14.37:g.23900847G>C	ENSP00000347507:p.Leu227Val						p.L227V	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	8	785	-	all_cancers(95;2.54e-05)		227		L -> V (in CMH1).	Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.679C>G	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171317	0.38315	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.98044	-4.68	3.28	1.42	0.22433	Myosin head, motor domain (3);	.	.	.	.	D	0.98686	0.9559	H	0.96996	3.92	0.51767	D	0.999933	B	0.27416	0.178	P	0.47134	0.539	D	0.98908	1.0779	9	0.87932	D	0	.	8.3785	0.32457	0.2783:0.0:0.7217:0.0	.	227	P12883	MYH7_HUMAN	V	227	ENSP00000347507:L227V	ENSP00000347507:L227V	L	-	1	2	MYH7	22970687	0.980000	0.34600	0.998000	0.56505	0.958000	0.62258	1.750000	0.38329	0.232000	0.21100	0.305000	0.20034	CTG		0.607	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		34	124	0	0	0	0.054565	0	34	124				
MAX	4149	broad.mit.edu	37	14	65560493	65560493	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr14:65560493C>A	ENST00000358664.4	-	3	234	c.104G>T	c.(103-105)cGt>cTt	p.R35L	MAX_ENST00000555667.1_Missense_Mutation_p.R26L|MAX_ENST00000557746.1_Missense_Mutation_p.R26L|MAX_ENST00000341653.2_Missense_Mutation_p.R35L|MAX_ENST00000284165.6_Missense_Mutation_p.R35L|MAX_ENST00000555419.1_Intron|RP11-840I19.3_ENST00000553633.1_RNA|RP11-840I19.3_ENST00000555261.1_RNA|RP11-840I19.3_ENST00000556127.1_RNA|MAX_ENST00000246163.2_Missense_Mutation_p.R35L|MAX_ENST00000555932.1_Intron|MAX_ENST00000556443.1_Missense_Mutation_p.R26L|MAX_ENST00000557277.1_5'UTR|RP11-840I19.3_ENST00000555898.1_RNA|MAX_ENST00000556979.1_Missense_Mutation_p.R35L|MAX_ENST00000358402.4_Missense_Mutation_p.R26L	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	35	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R35H(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GTGGTCCCTACGTTTTCGTTC	0.478																																							uc001xif.1		NA																	1	Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)	lung(1)	1						c.(103-105)CGT>CTT		MAX protein isoform a							200.0	162.0	175.0					14																	65560493		2203	4300	6503	SO:0001583	missense	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65560493C>A		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.104G>T	14.37:g.65560493C>A	ENSP00000351490:p.Arg35Leu					MAX_uc001xic.1_Missense_Mutation_p.R35L|MAX_uc001xie.1_Missense_Mutation_p.R35L|MAX_uc010aql.1_Intron|MAX_uc001xig.1_Missense_Mutation_p.R26L|MAX_uc001xih.1_RNA|MAX_uc001xii.1_Missense_Mutation_p.R26L|MAX_uc001xij.1_Missense_Mutation_p.R35L|MAX_uc001xik.2_Missense_Mutation_p.R35L	p.R35L	NM_002382	NP_002373	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	3	274	-			35			Basic motif.		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	c.104G>T	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	C	35	5.532047	0.96446	.	.	ENSG00000125952	ENST00000341653;ENST00000358402;ENST00000284165;ENST00000358664;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443;ENST00000246163	D;D;D;D;D;D;D;D;D	0.99709	-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48	6.04	6.04	0.98038	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99880	0.9943	H	0.99130	4.44	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.995;1.0;0.972;0.993;0.998;0.998;0.974	D;D;D;D;D;D;P	0.80764	0.973;0.994;0.923;0.934;0.976;0.975;0.815	D	0.96586	0.9434	10	0.87932	D	0	-14.0698	19.3663	0.94464	0.0:1.0:0.0:0.0	.	35;35;26;26;35;35;35	Q96CY8;Q14803;Q6V3B1;P61244-2;P61244;P61244-3;A6NH73	.;.;.;.;MAX_HUMAN;.;.	L	35;26;35;35;42;35;26;26;26;35	ENSP00000342482:R35L;ENSP00000351175:R26L;ENSP00000284165:R35L;ENSP00000351490:R35L;ENSP00000452378:R35L;ENSP00000452286:R26L;ENSP00000452197:R26L;ENSP00000450818:R26L;ENSP00000246163:R35L	ENSP00000246163:R35L	R	-	2	0	MAX	64630246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.511000	0.81718	2.873000	0.98535	0.563000	0.77884	CGT		0.478	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		25	42	1	0	2.48779e-11	0.027356	3.29552e-11	25	42				
ACTN1	87	broad.mit.edu	37	14	69376758	69376758	+	Splice_Site	SNP	C	C	G			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr14:69376758C>G	ENST00000193403.6	-	5	812	c.429G>C	c.(427-429)gaG>gaC	p.E143D	ACTN1_ENST00000538545.2_Splice_Site_p.E143D|ACTN1_ENST00000394419.4_Splice_Site_p.E143D|ACTN1_ENST00000438964.2_Splice_Site_p.E143D|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000376839.3_Splice_Site_p.E78D	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	143	Actin-binding.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGGCTGAAGTCTCTATGGGGA	0.572																																							uc001xkl.2		NA																	0				central_nervous_system(1)	1						c.(427-429)GAG>GAC		actinin, alpha 1 isoform b							71.0	66.0	67.0					14																	69376758		2203	4300	6503	SO:0001630	splice_region_variant	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69376758C>G	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.428-1G>C	14.37:g.69376758C>G						ACTN1_uc010ttb.1_Missense_Mutation_p.E78D|ACTN1_uc001xkm.2_Missense_Mutation_p.E143D|ACTN1_uc001xkn.2_Missense_Mutation_p.E143D|ACTN1_uc001xko.1_Missense_Mutation_p.E78D|ACTN1_uc010ttd.1_Missense_Mutation_p.E122D	p.E143D	NM_001102	NP_001093	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	5	739	-			143			Actin-binding.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.429G>C	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501653	0.44455	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000555616;ENST00000556433;ENST00000553370;ENST00000553779;ENST00000556571	T;T;T;T;T;T;T;D;D;T	0.95447	0.28;0.28;0.28;0.28;0.28;0.28;0.28;-3.67;-3.71;0.27	5.69	3.85	0.44370	Calponin homology domain (1);	0.058843	0.64402	D	0.000002	D	0.89591	0.6759	N	0.17901	0.54	0.58432	D	0.999998	B;B;B;B	0.12630	0.0;0.0;0.0;0.006	B;B;B;B	0.19391	0.001;0.003;0.001;0.025	D	0.85537	0.1213	10	0.49607	T	0.09	.	8.2451	0.31684	0.0:0.6767:0.0:0.3233	.	143;143;143;143	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	D	143;143;143;78;143;78;122;78;78;120	ENSP00000193403:E143D;ENSP00000377941:E143D;ENSP00000414272:E143D;ENSP00000366035:E78D;ENSP00000439828:E143D;ENSP00000450903:E78D;ENSP00000450764:E122D;ENSP00000450925:E78D;ENSP00000450618:E78D;ENSP00000452423:E120D	ENSP00000193403:E143D	E	-	3	2	ACTN1	68446511	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.719000	0.38011	1.542000	0.49330	-0.150000	0.13652	GAG		0.572	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102	Missense_Mutation	16	17	0	0	0	0.0333	0	16	17				
HHIPL1	84439	broad.mit.edu	37	14	100118894	100118894	+	Missense_Mutation	SNP	G	G	A	rs145984890		TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr14:100118894G>A	ENST00000330710.5	+	2	687	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	HHIPL1_ENST00000357223.2_Missense_Mutation_p.V197M	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	197					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCGCAACCCCGTGGCCATGGT	0.667																																							uc010avs.2		NA																	0				skin(2)	2						c.(589-591)GTG>ATG		HHIP-like protein 1 isoform a		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	57.0	49.0	52.0		589,589	4.8	1.0	14	dbSNP_134	52	0,8598		0,0,4299	no	missense,missense	HHIPL1	NM_001127258.1,NM_032425.4	21,21	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	197/783,197/609	100118894	1,13003	2203	4299	6502	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100118894G>A	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.589G>A	14.37:g.100118894G>A	ENSP00000330601:p.Val197Met					HHIPL1_uc001ygl.1_Missense_Mutation_p.V197M	p.V197M	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN			2	654	+		Melanoma(154;0.128)	197					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.589G>A	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	g	18.70	3.680206	0.68042	2.27E-4	0.0	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.13901	2.55;2.55	4.83	4.83	0.62350	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.167322	0.37304	N	0.002144	T	0.33469	0.0864	L	0.52759	1.655	0.38896	D	0.957225	D;D	0.89917	1.0;0.995	D;P	0.79784	0.993;0.898	T	0.16247	-1.0409	10	0.87932	D	0	.	17.9404	0.89025	0.0:0.0:1.0:0.0	.	197;197	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	M	197	ENSP00000330601:V197M;ENSP00000349757:V197M	ENSP00000330601:V197M	V	+	1	0	HHIPL1	99188647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.263000	0.65507	2.207000	0.71202	0.655000	0.94253	GTG		0.667	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		3	36	0	0	0	0.004672	0	3	36				
OR4M2	390538	broad.mit.edu	37	15	22369056	22369056	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr15:22369056G>T	ENST00000332663.2	+	1	579	c.481G>T	c.(481-483)Gct>Tct	p.A161S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CATACAGGTGGCTCTCATTGT	0.517																																							uc010tzu.1		NA																	0				ovary(1)	1						c.(481-483)GCT>TCT		olfactory receptor, family 4, subfamily M,							350.0	290.0	311.0					15																	22369056		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369056G>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.481G>T	15.37:g.22369056G>T	ENSP00000329467:p.Ala161Ser					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.A161S	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	481	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	161			Extracellular (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.481G>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	14.11	2.437001	0.43224	.	.	ENSG00000182974	ENST00000332663	T	0.37058	1.22	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.133415	0.34435	N	0.003970	T	0.24431	0.0592	N	0.03029	-0.43	0.27717	N	0.945246	P	0.41265	0.744	P	0.57371	0.819	T	0.10590	-1.0623	10	0.22109	T	0.4	-0.0056	5.3487	0.16024	0.1658:0.0:0.8342:0.0	.	161	Q8NGB6	OR4M2_HUMAN	S	161	ENSP00000329467:A161S	ENSP00000329467:A161S	A	+	1	0	OR4M2	19870420	0.000000	0.05858	0.998000	0.56505	0.984000	0.73092	0.363000	0.20301	1.422000	0.47177	0.448000	0.29417	GCT		0.517	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			55	263	1	0	2.76378e-25	0.048971	4.2713e-25	55	263				
C15orf41	84529	broad.mit.edu	37	15	37100595	37100595	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr15:37100595A>G	ENST00000566621.1	+	11	1037	c.787A>G	c.(787-789)Atc>Gtc	p.I263V	C15orf41_ENST00000567389.1_Missense_Mutation_p.I165V|C15orf41_ENST00000563167.1_Missense_Mutation_p.H25R|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000569302.1_Missense_Mutation_p.I269V|C15orf41_ENST00000562489.1_Missense_Mutation_p.I87V|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000562877.1_Missense_Mutation_p.I165V|C15orf41_ENST00000338183.4_Missense_Mutation_p.I165V|C15orf41_ENST00000437989.2_Missense_Mutation_p.I263V	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	263										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GGAAAGGGGCATCCTGCTCAA	0.478																																							uc001zje.3		NA																	0				pancreas(1)	1						c.(787-789)ATC>GTC		hypothetical protein LOC84529 isoform 1							135.0	128.0	130.0					15																	37100595		1906	4125	6031	SO:0001583	missense	84529						protein binding	g.chr15:37100595A>G	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.787A>G	15.37:g.37100595A>G	ENSP00000455397:p.Ile263Val					C15orf41_uc001zjd.2_Missense_Mutation_p.I263V|C15orf41_uc010bbb.1_Missense_Mutation_p.I165V|C15orf41_uc001zjf.2_Missense_Mutation_p.I165V|C15orf41_uc010uci.1_Missense_Mutation_p.I165V|CSNK1A1P_uc001zjg.3_Intron	p.I263V	NM_001130010	NP_001123482	Q9Y2V0	CO041_HUMAN		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)	11	1037	+		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)	263					B2RD87	Missense_Mutation	SNP	ENST00000566621.1	37	c.787A>G	CCDS45215.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.463639	0.43736	.	.	ENSG00000186073	ENST00000437989;ENST00000338183	T	0.48201	0.82	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.54078	0.1836	L	0.31664	0.95	0.80722	D	1	D	0.61697	0.99	D	0.78314	0.991	T	0.44143	-0.9347	10	0.11182	T	0.66	-11.3407	15.7778	0.78236	1.0:0.0:0.0:0.0	.	263	Q9Y2V0	CO041_HUMAN	V	263;165	ENSP00000401362:I263V	ENSP00000342433:I165V	I	+	1	0	C15orf41	34887887	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.699000	0.91316	2.313000	0.78055	0.454000	0.30748	ATC		0.478	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		11	38	0	0	0	0.008291	0	11	38				
CHST14	113189	broad.mit.edu	37	15	40764364	40764364	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr15:40764364C>T	ENST00000306243.5	+	1	1205	c.952C>T	c.(952-954)Cac>Tac	p.H318Y	CHST14_ENST00000559991.1_Missense_Mutation_p.H293Y	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	318					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGCACCACCTCACGTCCGATT	0.627																																							uc001zlw.2		NA																	0					0						c.(952-954)CAC>TAC		dermatan 4 sulfotransferase 1							87.0	82.0	84.0					15																	40764364		2203	4300	6503	SO:0001583	missense	113189				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding	g.chr15:40764364C>T	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.952C>T	15.37:g.40764364C>T	ENSP00000307297:p.His318Tyr						p.H318Y	NM_130468	NP_569735	Q8NCH0	CHSTE_HUMAN		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)	1	1152	+		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	318			Lumenal (Potential).		Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP	ENST00000306243.5	37	c.952C>T	CCDS10059.1	.	.	.	.	.	.	.	.	.	.	C	0.170	-1.072567	0.01918	.	.	ENSG00000169105	ENST00000306243	T	0.73681	-0.77	4.76	3.77	0.43336	.	0.921050	0.09221	N	0.831870	T	0.54224	0.1845	N	0.25647	0.755	0.09310	N	1	B	0.18741	0.03	B	0.22152	0.038	T	0.54036	-0.8353	10	0.05436	T	0.98	-27.5264	3.3753	0.07235	0.2425:0.5635:0.0:0.194	.	318	Q8NCH0	CHSTE_HUMAN	Y	318	ENSP00000307297:H318Y	ENSP00000307297:H318Y	H	+	1	0	CHST14	38551656	0.022000	0.18835	0.998000	0.56505	0.752000	0.42762	1.736000	0.38187	2.477000	0.83638	0.655000	0.94253	CAC		0.627	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	NM_130468		22	59	0	0	0	0.014323	0	22	59				
TGM7	116179	broad.mit.edu	37	15	43577088	43577088	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr15:43577088C>G	ENST00000452443.2	-	7	932	c.928G>C	c.(928-930)Gat>Cat	p.D310H		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	310					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	AAGTTCCTATCCACGTTGTGC	0.433																																							uc001zrf.1		NA																	0				ovary(2)	2						c.(928-930)GAT>CAT		transglutaminase 7	L-Glutamine(DB00130)						222.0	181.0	195.0					15																	43577088		2202	4299	6501	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43577088C>G	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.928G>C	15.37:g.43577088C>G	ENSP00000389466:p.Asp310His						p.D310H	NM_052955	NP_443187	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	7	933	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	310						Missense_Mutation	SNP	ENST00000452443.2	37	c.928G>C	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474554	0.84640	.	.	ENSG00000159495	ENST00000452443	T	0.55760	0.5	5.63	5.63	0.86233	Transglutaminase-like (2);	0.056391	0.64402	D	0.000002	T	0.74650	0.3744	M	0.80616	2.505	0.46416	D	0.999032	D	0.89917	1.0	D	0.97110	1.0	T	0.76727	-0.2853	10	0.59425	D	0.04	-20.7921	17.1875	0.86870	0.0:1.0:0.0:0.0	.	310	Q96PF1	TGM7_HUMAN	H	310	ENSP00000389466:D310H	ENSP00000389466:D310H	D	-	1	0	TGM7	41364380	0.427000	0.25514	0.923000	0.36655	0.998000	0.95712	0.934000	0.28910	2.665000	0.90641	0.655000	0.94253	GAT		0.433	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		33	103	0	0	0	0.050027	0	33	103				
FBN1	2200	broad.mit.edu	37	15	48718047	48718047	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr15:48718047T>C	ENST00000316623.5	-	59	7674	c.7219A>G	c.(7219-7221)Aag>Gag	p.K2407E		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2407	EGF-like 41; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGAATAACCTTGCATTCATCG	0.328																																							uc001zwx.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(7219-7221)AAG>GAG		fibrillin 1 precursor							119.0	100.0	106.0					15																	48718047		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48718047T>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7219A>G	15.37:g.48718047T>C	ENSP00000325527:p.Lys2407Glu					FBN1_uc010beo.1_RNA	p.K2407E	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	59	7547	-		all_lung(180;0.00279)	2407			EGF-like 41; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7219A>G	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147354	0.57151	.	.	ENSG00000166147	ENST00000316623	D	0.91843	-2.92	6.17	6.17	0.99709	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.187622	0.64402	D	0.000019	D	0.82458	0.5041	N	0.04805	-0.155	0.80722	D	1	B	0.15141	0.012	B	0.21917	0.037	T	0.77667	-0.2502	10	0.21014	T	0.42	.	12.3482	0.55132	0.0:0.0:0.1406:0.8594	.	2407	P35555	FBN1_HUMAN	E	2407	ENSP00000325527:K2407E	ENSP00000325527:K2407E	K	-	1	0	FBN1	46505339	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.147000	0.58078	2.371000	0.80710	0.533000	0.62120	AAG		0.328	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			18	37	0	0	0	0.043863	0	18	37				
SMG1	23049	broad.mit.edu	37	16	18826847	18826847	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr16:18826847T>C	ENST00000446231.2	-	59	10841	c.10429A>G	c.(10429-10431)Atg>Gtg	p.M3477V	SMG1_ENST00000389467.3_Missense_Mutation_p.M3478V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3477					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACCTGACCCATAGCCTGGACT	0.403																																							uc002dfm.2		NA																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(10429-10431)ATG>GTG		PI-3-kinase-related kinase SMG-1							163.0	145.0	150.0					16																	18826847		1892	4125	6017	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18826847T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10429A>G	16.37:g.18826847T>C	ENSP00000402515:p.Met3477Val					SMG1_uc010bwb.2_Missense_Mutation_p.M3337V|SMG1_uc010bwa.2_Missense_Mutation_p.M2208V	p.M3477V	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			59	10792	-			3477					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.10429A>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.263351	0.23051	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01043	5.41;5.41	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.00967	0.0032	N	0.14661	0.345	0.28633	N	0.907558	B	0.09022	0.002	B	0.10450	0.005	T	0.48340	-0.9044	10	0.16896	T	0.51	.	11.5588	0.50764	0.1332:0.0:0.0:0.8668	.	3477	Q96Q15	SMG1_HUMAN	V	3477;3478	ENSP00000402515:M3477V;ENSP00000374118:M3478V	ENSP00000374118:M3478V	M	-	1	0	SMG1	18734348	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.717000	0.68446	2.291000	0.77112	0.533000	0.62120	ATG		0.403	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		28	67	0	0	0	0.037714	0	28	67				
VWA3A	146177	broad.mit.edu	37	16	22163834	22163834	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr16:22163834C>A	ENST00000389398.5	+	31	3380	c.3284C>A	c.(3283-3285)gCg>gAg	p.A1095E	VWA3A_ENST00000389397.4_Missense_Mutation_p.A197E|VWA3A_ENST00000563755.1_Missense_Mutation_p.A197E	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1095	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTTCCAGAGCGGCGGTTGAG	0.587																																							uc010vbq.1		NA																	0				skin(1)	1						c.(3283-3285)GCG>GAG		von Willebrand factor A domain containing 3A																																				SO:0001583	missense	146177					extracellular region		g.chr16:22163834C>A	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3284C>A	16.37:g.22163834C>A	ENSP00000374049:p.Ala1095Glu					VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_Missense_Mutation_p.A173E|VWA3A_uc010bxe.1_Missense_Mutation_p.A197E	p.A1095E	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	31	3380	+			1095			VWFA 2.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.3284C>A	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	3.089	-0.187328	0.06299	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	T;T	0.09073	3.02;3.02	5.41	0.262	0.15597	von Willebrand factor, type A (3);	1.334680	0.04516	N	0.383827	T	0.04227	0.0117	N	0.16833	0.445	0.09310	N	1	B;B	0.15473	0.005;0.013	B;B	0.19148	0.019;0.024	T	0.34054	-0.9844	10	0.02654	T	1	.	2.3963	0.04390	0.4702:0.2698:0.1533:0.1067	.	1095;197	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	E	1095;197;718	ENSP00000374049:A1095E;ENSP00000374048:A197E	ENSP00000299840:A718E	A	+	2	0	VWA3A	22071335	0.000000	0.05858	0.003000	0.11579	0.034000	0.12701	-0.023000	0.12456	0.263000	0.21812	0.655000	0.94253	GCG		0.587	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			7	15	1	0	0.000274275	0.047766	0.000296043	7	15				
SBK1	388228	broad.mit.edu	37	16	28330438	28330438	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr16:28330438G>C	ENST00000341901.4	+	3	1138	c.349G>C	c.(349-351)Gtc>Ctc	p.V117L		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	117	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						CTTTGACGTGGTCTTTGAGAC	0.537																																							uc002dpd.2		NA																	0				ovary(1)|kidney(1)	2						c.(349-351)GTC>CTC		SH3-binding kinase 1							157.0	138.0	145.0					16																	28330438		2197	4300	6497	SO:0001583	missense	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28330438G>C		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.349G>C	16.37:g.28330438G>C	ENSP00000343248:p.Val117Leu						p.V117L	NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN			3	1138	+			117			Protein kinase.			Missense_Mutation	SNP	ENST00000341901.4	37	c.349G>C	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	g	6.265	0.417094	0.11870	.	.	ENSG00000188322	ENST00000341901	T	0.64991	-0.13	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.070725	0.56097	D	0.000026	T	0.45155	0.1328	N	0.17674	0.51	0.28797	N	0.898985	B	0.06786	0.001	B	0.08055	0.003	T	0.35822	-0.9773	10	0.33940	T	0.23	-28.4463	11.1764	0.48601	0.0:0.1868:0.8132:0.0	.	117	Q52WX2	SBK1_HUMAN	L	117	ENSP00000343248:V117L	ENSP00000343248:V117L	V	+	1	0	SBK1	28237939	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.410000	0.52664	2.178000	0.69098	0.651000	0.88453	GTC		0.537	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		21	80	0	0	0	0.014323	0	21	80				
MAZ	4150	broad.mit.edu	37	16	29821464	29821465	+	Missense_Mutation	DNP	TA	TA	CG	rs549096750	byFrequency	TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr16:29821464_29821465TA>CG	ENST00000322945.6	+	5	1511_1512	c.1346_1347TA>CG	c.(1345-1347)gTA>gCG	p.V449A	PRRT2_ENST00000358758.7_5'Flank|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000568544.1_Missense_Mutation_p.V50A|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000566906.2_Missense_Mutation_p.S104G|MAZ_ENST00000545521.1_Missense_Mutation_p.V426A|MAZ_ENST00000562337.1_Missense_Mutation_p.V144A|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000568282.1_3'UTR|AC009133.14_ENST00000563806.1_RNA|PRRT2_ENST00000300797.6_5'Flank|MAZ_ENST00000563402.1_Missense_Mutation_p.S106G|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000219782.6_3'UTR	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	449	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						gcggcagcagtagcagcCCCTC	0.668																																					Colon(72;875 1167 15364 30899 37091)	Colon(72;875 1167 15364 30899 37091)	uc002dty.2		NA																	0				ovary(1)	1						c.(1345-1347)GTA>GCG		MYC-associated zinc finger protein isoform 1																																				SO:0001583	missense	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29821464_29821465TA>CG	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	Exception_encountered	16.37:g.29821464_29821465delinsCG	ENSP00000313362:p.Val449Ala					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Splice_Site_p.Q86_splice|MAZ_uc010vdx.1_Missense_Mutation_p.V426A|MAZ_uc002dtw.2_Missense_Mutation_p.S104G|MAZ_uc002dtx.2_3'UTR|MAZ_uc010bzg.2_Missense_Mutation_p.V144A|MAZ_uc002dtz.1_3'UTR|MAZ_uc002dua.2_3'UTR|MAZ_uc010vdy.1_Missense_Mutation_p.V50A|uc002duc.1_RNA|PRRT2_uc002dud.2_5'Flank|PRRT2_uc002due.3_5'Flank|PRRT2_uc002duf.1_5'Flank	p.V449A	NM_002383	NP_002374	P56270	MAZ_HUMAN			5	1514_1515	+			449			Poly-Ala.		A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	DNP	ENST00000322945.6	37	c.1346_1347TA>CG	CCDS42143.1																																																																																				0.668	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		6	13	0	0	0	0.004672	0	6	13				
ABCC11	85320	broad.mit.edu	37	16	48234284	48234284	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr16:48234284G>A	ENST00000394747.1	-	14	2334	c.1985C>T	c.(1984-1986)tCt>tTt	p.S662F	ABCC11_ENST00000356608.2_Missense_Mutation_p.S662F|ABCC11_ENST00000537808.1_Missense_Mutation_p.S662F|ABCC11_ENST00000394748.1_Missense_Mutation_p.S662F|ABCC11_ENST00000353782.5_Missense_Mutation_p.S662F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	662	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GTCCACAGCAGACAGGGGGTC	0.612																																							uc002eff.1		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1984-1986)TCT>TTT		ATP-binding cassette, sub-family C, member 11							91.0	76.0	81.0					16																	48234284		2201	4300	6501	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48234284G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1985C>T	16.37:g.48234284G>A	ENSP00000378230:p.Ser662Phe					ABCC11_uc002efg.1_Missense_Mutation_p.S662F|ABCC11_uc002efh.1_Missense_Mutation_p.S662F|ABCC11_uc010vgk.1_RNA	p.S662F	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			14	2335	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	662			ABC transporter 1.|Cytoplasmic (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.1985C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800508	0.70567	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-1.94	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.98061	0.9361	H	0.97611	4.04	0.51767	D	0.999939	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99204	1.0874	10	0.87932	D	0	-12.242	17.3327	0.87269	0.0:0.0:1.0:0.0	.	662;662	Q96J66-2;Q96J66	.;ABCCB_HUMAN	F	662	ENSP00000311326:S662F;ENSP00000349017:S662F;ENSP00000378231:S662F;ENSP00000378230:S662F;ENSP00000438530:S662F	ENSP00000311326:S662F	S	-	2	0	ABCC11	46791785	0.003000	0.15002	0.907000	0.35723	0.422000	0.31414	1.225000	0.32551	2.703000	0.92315	0.655000	0.94253	TCT		0.612	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		17	57	0	0	0	0.028581	0	17	57				
PLCG2	5336	broad.mit.edu	37	16	81934352	81934352	+	Silent	SNP	G	G	T	rs369281824		TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr16:81934352G>T	ENST00000359376.3	+	14	1543	c.1329G>T	c.(1327-1329)tcG>tcT	p.S443S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	443	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGCTGCCCTCGCCCAGCCAGC	0.637																																							uc002fgt.2		NA																	0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(1327-1329)TCG>TCT		phospholipase C, gamma 2							37.0	42.0	40.0					16																	81934352		2122	4235	6357	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81934352G>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1329G>T	16.37:g.81934352G>T						PLCG2_uc010chg.1_Silent_p.S443S	p.S443S	NM_002661	NP_002652	P16885	PLCG2_HUMAN			14	1481	+			443			PI-PLC X-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.1329G>T	CCDS42204.1																																																																																				0.637	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			14	27	1	0	4.14922e-12	0.028581	5.53229e-12	14	27				
TRPV2	51393	broad.mit.edu	37	17	16342490	16342490	+	IGR	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr17:16342490C>T	ENST00000338560.7	+	0	2808				C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GGGCGGAGGGCAGCTGTTGAG	0.667																																						Pancreas(170;1717 2016 9057 29149 45168)	uc002gqc.2		NA																	0					0						c.(34-36)GCA>GTA		RecName: Full=Putative uncharacterized protein C17orf45, mitochondrial; Flags: Precursor;							26.0	33.0	31.0					17																	16342490		1997	4011	6008	SO:0001628	intergenic_variant	125144							g.chr17:16342490C>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989		17.37:g.16342490C>T						NCRNA00188_uc010vwf.1_Intron|NCRNA00188_uc010vwg.1_Intron|NCRNA00188_uc010vwh.1_Intron|NCRNA00188_uc010cpd.2_Intron|NCRNA00188_uc002gqb.3_Intron|NCRNA00188_uc010vwi.1_Intron|NCRNA00188_uc010vwj.1_Intron|NCRNA00188_uc002gqa.3_Intron|NCRNA00188_uc010vwk.1_Intron|NCRNA00188_uc010vwl.1_Intron|NCRNA00188_uc010vwm.1_Intron|NCRNA00188_uc010vwn.1_Intron|NCRNA00188_uc010cpe.2_Intron|NCRNA00188_uc010vwo.1_Intron|NCRNA00188_uc010vwp.1_Intron|SNORD49B_uc010cpf.2_5'Flank|SNORD49A_uc010cpg.1_5'Flank|SNORD65_uc002gqf.1_5'Flank	p.A12V	NR_027667						1	190	+								A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.35C>T	CCDS32576.1																																																																																				0.667	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		7	35	0	0	0	0.047766	0	7	35				
GID4	79018	broad.mit.edu	37	17	17948473	17948473	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr17:17948473G>T	ENST00000268719.4	+	2	624	c.451G>T	c.(451-453)Ggg>Tgg	p.G151W	GID4_ENST00000376345.3_Missense_Mutation_p.G151W	NM_024052.4	NP_076957.3	Q8IVV7	GID4_HUMAN	GID complex subunit 4	151																	CGTGGACACGGGGAACTCTTA	0.473																																							uc002gsg.1		NA																	0				skin(1)	1						c.(451-453)GGG>TGG		hypothetical protein LOC79018							161.0	136.0	144.0					17																	17948473		2203	4300	6503	SO:0001583	missense	79018							g.chr17:17948473G>T	AK127580	CCDS11190.1	17p11.2	2013-07-31	2013-07-31	2012-07-20	ENSG00000141034	ENSG00000141034			28453	protein-coding gene	gene with protein product	"""vacuolar import and degradation 24"""		"""chromosome 17 open reading frame 39"", ""GID complex subunit 4, VID24 homolog (S. cerevisiae)"""	C17orf39		11997338	Standard	NM_024052		Approved	VID24	uc002gsg.1	Q8IVV7	OTTHUMG00000059398	ENST00000268719.4:c.451G>T	17.37:g.17948473G>T	ENSP00000268719:p.Gly151Trp						p.G151W	NM_024052	NP_076957	Q8IVV7	CQ039_HUMAN			2	619	+	all_neural(463;0.228)		151					Q8TEB5|Q9BW50	Missense_Mutation	SNP	ENST00000268719.4	37	c.451G>T	CCDS11190.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750558	0.89753	.	.	ENSG00000141034	ENST00000268719;ENST00000376345	.	.	.	5.53	5.53	0.82687	.	0.112547	0.64402	D	0.000018	T	0.59905	0.2228	N	0.08118	0	0.51767	D	0.99993	D	0.76494	0.999	D	0.68483	0.958	T	0.69476	-0.5135	9	0.72032	D	0.01	-8.1394	19.0609	0.93093	0.0:0.0:1.0:0.0	.	151	Q8IVV7	CQ039_HUMAN	W	151;68	.	ENSP00000268719:G151W	G	+	1	0	C17orf39	17889198	1.000000	0.71417	0.984000	0.44739	0.975000	0.68041	9.317000	0.96327	2.599000	0.87857	0.655000	0.94253	GGG		0.473	GID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132071.2	NM_024052		18	36	1	0	1.01871e-10	0.049695	1.30703e-10	18	36				
LLGL1	3996	broad.mit.edu	37	17	18135839	18135839	+	Silent	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr17:18135839C>T	ENST00000316843.4	+	3	306	c.210C>T	c.(208-210)ggC>ggT	p.G70G		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	70					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					AGTTCACAGGCCTGCACCGGG	0.587																																							uc002gsp.2		NA																	0				breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6						c.(208-210)GGC>GGT		lethal giant larvae homolog 1							77.0	64.0	68.0					17																	18135839		2203	4300	6503	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18135839C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.210C>T	17.37:g.18135839C>T							p.G70G	NM_004140	NP_004131	Q15334	L2GL1_HUMAN			3	271	+	all_neural(463;0.228)		70			WD 1.		A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.210C>T	CCDS32586.1																																																																																				0.587	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			6	20	0	0	0	0.02938	0	6	20				
KIAA0100	9703	broad.mit.edu	37	17	26968943	26968943	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr17:26968943C>A	ENST00000528896.2	-	7	804	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	KIAA0100_ENST00000544884.1_Missense_Mutation_p.G101C|KIAA0100_ENST00000389003.3_Missense_Mutation_p.G101C	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	244						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGGCTTGGGCCCTGGCACAGC	0.527																																							uc002hbu.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(730-732)GGC>TGC		hypothetical protein LOC9703 precursor							79.0	70.0	73.0					17																	26968943		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26968943C>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.730G>T	17.37:g.26968943C>A	ENSP00000436773:p.Gly244Cys					KIAA0100_uc002hbv.2_Missense_Mutation_p.G244C|KIAA0100_uc010crr.1_Missense_Mutation_p.G101C	p.G244C	NM_014680	NP_055495	Q14667	K0100_HUMAN			7	829	-	Lung NSC(42;0.00431)		244					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.730G>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830321	0.50845	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.23348	1.91;1.93	4.54	3.57	0.40892	FMP27, N-terminal (1);	0.780131	0.12333	N	0.478177	T	0.21022	0.0506	N	0.14661	0.345	0.09310	N	1	D;P;B	0.61080	0.989;0.558;0.003	P;B;B	0.53313	0.723;0.391;0.005	T	0.06391	-1.0829	10	0.49607	T	0.09	.	4.3635	0.11213	0.1799:0.6375:0.0:0.1827	.	101;244;244	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	C	244;244;244;101	ENSP00000436773:G244C;ENSP00000446443:G101C	ENSP00000005905:G244C	G	-	1	0	KIAA0100	23993070	0.984000	0.35163	0.925000	0.36789	0.988000	0.76386	0.428000	0.21395	1.520000	0.48965	0.655000	0.94253	GGC		0.527	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		13	48	1	0	0.00136819	0.013537	0.00143872	13	48				
OMG	4974	broad.mit.edu	37	17	29622866	29622866	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr17:29622866G>T	ENST00000247271.4	-	2	745	c.484C>A	c.(484-486)Cca>Aca	p.P162T	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	162					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		ATGTTGGTTGGAACTGTCCAA	0.383																																							uc002hgj.2		NA																	11	Whole gene deletion(8)|Unknown(3)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	ovary(1)|central_nervous_system(1)	2						c.(484-486)CCA>ACA		oligodendrocyte myelin glycoprotein precursor							154.0	153.0	153.0					17																	29622866		2203	4300	6503	SO:0001583	missense	4974				cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		g.chr17:29622866G>T		CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.484C>A	17.37:g.29622866G>T	ENSP00000247271:p.Pro162Thr					NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron	p.P162T	NM_002544	NP_002535	P23515	OMGP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)	2	697	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	162			LRR 5.		E1P659	Missense_Mutation	SNP	ENST00000247271.4	37	c.484C>A	CCDS11265.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460864	0.63513	.	.	ENSG00000126861	ENST00000247271	T	0.60424	0.19	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000010	T	0.81437	0.4822	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83318	-0.0019	10	0.66056	D	0.02	-6.1139	20.269	0.98464	0.0:0.0:1.0:0.0	.	162	P23515	OMGP_HUMAN	T	162	ENSP00000247271:P162T	ENSP00000247271:P162T	P	-	1	0	OMG	26646992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.270000	0.95690	2.878000	0.98634	0.650000	0.86243	CCA		0.383	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256350.2	NM_002544		42	115	1	0	6.33695e-27	0.030466	9.86823e-27	42	115				
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487		TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667																																							uc002hvz.2		NA																	6	Substitution - coding silent(6)		endometrium(3)|kidney(2)|lung(1)		0						c.(151-153)AGG>AGA		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274415		682	1579	2261	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274415C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.153G>A	17.37:g.39274415C>T							p.R51R	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	192	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	6.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.153G>A	CCDS45675.1																																																																																				0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			7	70	0	0	0	0.047766	0	7	70				
SPPL2C	162540	broad.mit.edu	37	17	43922518	43922518	+	Silent	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr17:43922518C>A	ENST00000329196.5	+	1	263	c.246C>A	c.(244-246)cgC>cgA	p.R82R	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	82						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										CCCAGCTCCGCTCCCCCAGCC	0.692																																						NSCLC(24;34 1393 18470)	uc010wka.1		NA																	0				pancreas(2)	2						c.(244-246)CGC>CGA		intramembrane protease 5 precursor							25.0	25.0	25.0					17																	43922518		2202	4297	6499	SO:0001819	synonymous_variant	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43922518C>A		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.246C>A	17.37:g.43922518C>A						LOC100128977_uc010wjz.1_Intron	p.R82R	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	1	246	+	Colorectal(2;0.0416)		82			Extracellular (Potential).		Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	c.246C>A	CCDS32673.1																																																																																				0.692	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		9	16	1	0	0.00448238	0.047766	0.00468926	9	16				
CDC27	996	broad.mit.edu	37	17	45219283	45219283	+	Missense_Mutation	SNP	T	T	C	rs76995821		TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr17:45219283T>C	ENST00000066544.3	-	12	1580	c.1487A>G	c.(1486-1488)tAc>tGc	p.Y496C	CDC27_ENST00000531206.1_Missense_Mutation_p.Y502C|CDC27_ENST00000446365.2_Missense_Mutation_p.Y435C|CDC27_ENST00000527547.1_Missense_Mutation_p.Y495C	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	496			Y -> H (in dbSNP:rs13666).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACCAGTATTGTAGTGGTGAGA	0.373																																							uc002ild.3		NA																	0				lung(2)|breast(2)|ovary(1)	5						c.(1486-1488)TAC>TGC		cell division cycle protein 27 isoform 2							111.0	117.0	115.0					17																	45219283		2203	4299	6502	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219283T>C	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1487A>G	17.37:g.45219283T>C	ENSP00000066544:p.Tyr496Cys					CDC27_uc002ile.3_Missense_Mutation_p.Y502C|CDC27_uc002ilf.3_Missense_Mutation_p.Y495C|CDC27_uc010wkp.1_Missense_Mutation_p.Y435C|CDC27_uc010wkq.1_Intron	p.Y496C	NM_001256	NP_001247	P30260	CDC27_HUMAN			12	1614	-			496					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.1487A>G	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128416	0.77549	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85230	0.5649	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74348	0.962;0.983;0.983;0.947	D	0.86505	0.1806	10	0.62326	D	0.03	-6.8435	14.3157	0.66450	0.0:0.0:0.0:1.0	.	435;495;502;496	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	C	496;502;435;495	ENSP00000066544:Y496C;ENSP00000434614:Y502C;ENSP00000392802:Y435C;ENSP00000437339:Y495C	ENSP00000066544:Y496C	Y	-	2	0	CDC27	42574282	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.967000	0.87967	2.267000	0.75376	0.528000	0.53228	TAC		0.373	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			46	125	0	0	0	0.048971	0	46	125				
WFIKKN2	124857	broad.mit.edu	37	17	48917306	48917306	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr17:48917306G>C	ENST00000311378.4	+	2	1185	c.657G>C	c.(655-657)caG>caC	p.Q219H	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.Q126H|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	219	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTGTGCACCAGTCGGTCACCA	0.642																																							uc002isv.3		NA																	0				ovary(2)|skin(1)	3						c.(655-657)CAG>CAC		WFIKKN2 protein							80.0	79.0	79.0					17																	48917306		2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917306G>C	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.657G>C	17.37:g.48917306G>C	ENSP00000311184:p.Gln219His					WFIKKN2_uc010dbu.2_Missense_Mutation_p.Q126H	p.Q219H	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1351	+			219			Ig-like C2-type.		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.657G>C	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	G	9.935	1.215770	0.22373	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.67523	-0.27;-0.27	5.55	5.55	0.83447	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.115830	0.64402	D	0.000010	T	0.68851	0.3046	M	0.68593	2.085	0.49687	D	0.999814	B	0.30563	0.285	B	0.38378	0.272	T	0.67309	-0.5703	10	0.39692	T	0.17	.	13.7605	0.62963	0.0734:0.0:0.9266:0.0	.	219	Q8TEU8	WFKN2_HUMAN	H	126;219	ENSP00000405889:Q126H;ENSP00000311184:Q219H	ENSP00000311184:Q219H	Q	+	3	2	WFIKKN2	46272305	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	4.799000	0.62517	2.604000	0.88044	0.651000	0.88453	CAG		0.642	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		11	48	0	0	0	0.016723	0	11	48				
ATP8B1	5205	broad.mit.edu	37	18	55359055	55359055	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr18:55359055T>A	ENST00000283684.4	-	11	1203	c.1204A>T	c.(1204-1206)Atc>Ttc	p.I402F	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.I402F|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	402					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TAGAGAGAGATGGGTACCATG	0.443																																							uc002lgw.2		NA																	0				breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(1204-1206)ATC>TTC		ATPase, class I, type 8B, member 1							160.0	134.0	143.0					18																	55359055		2203	4300	6503	SO:0001583	missense	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55359055T>A	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1204A>T	18.37:g.55359055T>A	ENSP00000283684:p.Ile402Phe					uc002lgv.1_Intron	p.I402F	NM_005603	NP_005594	O43520	AT8B1_HUMAN			11	1204	-		Colorectal(73;0.229)	402			Helical; (Potential).		Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.1204A>T	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.025033	0.93518	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.73469	-0.75;-0.75	6.17	6.17	0.99709	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.90532	0.7033	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93059	0.6472	10	0.87932	D	0	.	16.4837	0.84171	0.0:0.0:0.0:1.0	.	402	O43520	AT8B1_HUMAN	F	402	ENSP00000283684:I402F;ENSP00000445359:I402F	ENSP00000283684:I402F	I	-	1	0	ATP8B1	53510053	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.951000	0.87819	2.371000	0.80710	0.533000	0.62120	ATC		0.443	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		16	42	0	0	0	0.055883	0	16	42				
EEF2	1938	broad.mit.edu	37	19	3982008	3982008	+	Silent	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr19:3982008G>T	ENST00000309311.6	-	6	922	c.834C>A	c.(832-834)acC>acA	p.T278T	SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_5'Flank	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	278	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCGGGGCTGGTGGCTGACT	0.607																																					Colon(165;1804 1908 4071 6587 18799)	Colon(165;1804 1908 4071 6587 18799)	uc002lze.2		NA																	0					0						c.(832-834)ACC>ACA		eukaryotic translation elongation factor 2							108.0	100.0	103.0					19																	3982008		2203	4300	6503	SO:0001819	synonymous_variant	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3982008G>T	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.834C>A	19.37:g.3982008G>T							p.T278T	NM_001961	NP_001952	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	6	917	-		Hepatocellular(1079;0.137)	278					B2RMP5|D6W618|Q58J86	Silent	SNP	ENST00000309311.6	37	c.834C>A	CCDS12117.1																																																																																				0.607	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		27	82	1	0	4.40665e-25	0.041601	6.75906e-25	27	82				
VAV1	7409	broad.mit.edu	37	19	6772930	6772930	+	Silent	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr19:6772930C>A	ENST00000602142.1	+	1	194	c.112C>A	c.(112-114)Cgg>Agg	p.R38R	VAV1_ENST00000539284.1_5'Flank|VAV1_ENST00000304076.2_Silent_p.R38R|VAV1_ENST00000596764.1_Silent_p.R38R	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	38	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Leu-rich.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCAGGCCCTCCGGGATGGTGT	0.652																																							uc002mfu.1		NA																	0				lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(112-114)CGG>AGG		vav 1 guanine nucleotide exchange factor							139.0	103.0	115.0					19																	6772930		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6772930C>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.112C>A	19.37:g.6772930C>A						VAV1_uc010xjh.1_Silent_p.R38R|VAV1_uc010dva.1_Silent_p.R38R	p.R38R	NM_005428	NP_005419	P15498	VAV_HUMAN			1	209	+			38			Leu-rich.|CH.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.112C>A	CCDS12174.1																																																																																				0.652	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			19	70	1	0	4.96729e-08	0.049695	6.10438e-08	19	70				
EMR2	30817	broad.mit.edu	37	19	14875377	14875377	+	Missense_Mutation	SNP	G	G	T	rs150544869		TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr19:14875377G>T	ENST00000315576.3	-	11	1403	c.952C>A	c.(952-954)Ctg>Atg	p.L318M	EMR2_ENST00000353005.1_Missense_Mutation_p.L176M|EMR2_ENST00000346057.1_Missense_Mutation_p.L269M|EMR2_ENST00000392965.3_Missense_Mutation_p.L318M|EMR2_ENST00000594076.1_Missense_Mutation_p.L225M|EMR2_ENST00000595839.1_Missense_Mutation_p.L176M|EMR2_ENST00000596991.2_Missense_Mutation_p.L318M|EMR2_ENST00000601345.1_Missense_Mutation_p.L318M|EMR2_ENST00000392967.2_Missense_Mutation_p.L318M|EMR2_ENST00000392964.3_Missense_Mutation_p.L57M|EMR2_ENST00000594294.1_Missense_Mutation_p.L269M|EMR2_ENST00000353876.1_Missense_Mutation_p.L225M	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	318					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGGGTCTCCAGGTCCCCAGGG	0.612																																							uc002mzp.1		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(952-954)CTG>ATG		egf-like module containing, mucin-like, hormone							44.0	40.0	41.0					19																	14875377		2202	4300	6502	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14875377G>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.952C>A	19.37:g.14875377G>T	ENSP00000319883:p.Leu318Met					EMR2_uc010dzs.1_Translation_Start_Site|EMR2_uc010xnw.1_Missense_Mutation_p.L318M|EMR2_uc002mzo.1_Missense_Mutation_p.L318M|EMR2_uc002mzq.1_Missense_Mutation_p.L269M|EMR2_uc002mzr.1_Missense_Mutation_p.L269M|EMR2_uc002mzs.1_Missense_Mutation_p.L176M|EMR2_uc002mzt.1_Missense_Mutation_p.L225M|EMR2_uc002mzu.1_Missense_Mutation_p.L225M|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	p.L318M	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			11	1408	-			318			Extracellular (Potential).		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.952C>A	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767075	0.69878	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965;ENST00000392964;ENST00000392962	T;T;T;T;T;T;T;T	0.80738	-1.09;-1.17;-0.62;0.17;0.89;-1.41;0.96;-1.41	3.77	2.68	0.31781	.	.	.	.	.	D	0.87224	0.6124	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D;D;D;P	0.89917	0.996;1.0;0.999;0.998;0.997;0.994;1.0;0.881	P;D;D;D;D;D;D;P	0.74674	0.862;0.983;0.979;0.965;0.976;0.94;0.984;0.688	D	0.86104	0.1558	9	0.56958	D	0.05	.	8.9378	0.35711	0.0:0.0:0.7766:0.2234	.	318;225;318;176;269;318;318;318	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	M	318;318;269;225;176;318;57;269	ENSP00000319883:L318M;ENSP00000376694:L318M;ENSP00000263380:L269M;ENSP00000319454:L225M;ENSP00000319838:L176M;ENSP00000376692:L318M;ENSP00000376691:L57M;ENSP00000376689:L269M	ENSP00000319883:L318M	L	-	1	2	EMR2	14736377	0.895000	0.30542	0.800000	0.32199	0.746000	0.42486	0.211000	0.17474	0.837000	0.34925	0.508000	0.49915	CTG		0.612	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			11	49	1	0	1.08611e-07	0.010729	1.30333e-07	11	49				
ZNF431	170959	broad.mit.edu	37	19	21365588	21365588	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr19:21365588A>G	ENST00000311048.7	+	5	626	c.482A>G	c.(481-483)tAt>tGt	p.Y161C	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	161					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AAAGAAGGTTATAATGAGCTA	0.328																																							uc002npp.2		NA																	0				central_nervous_system(2)	2						c.(481-483)TAT>TGT		zinc finger protein 431							86.0	87.0	87.0					19																	21365588		2203	4300	6503	SO:0001583	missense	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21365588A>G	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.482A>G	19.37:g.21365588A>G	ENSP00000308578:p.Tyr161Cys					ZNF431_uc010ecq.2_Missense_Mutation_p.Y70C|ZNF431_uc010ecr.2_Missense_Mutation_p.Y162C	p.Y161C	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN			5	629	+			161					A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	c.482A>G	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	2.338	-0.351890	0.05173	.	.	ENSG00000196705	ENST00000311048	T	0.06528	3.29	0.588	-1.04	0.10068	.	.	.	.	.	T	0.09379	0.0231	M	0.80028	2.48	0.09310	N	1	B	0.23937	0.094	B	0.25614	0.062	T	0.28106	-1.0054	9	0.48119	T	0.1	.	5.2486	0.15510	0.3783:0.6217:0.0:0.0	.	161	Q8TF32	ZN431_HUMAN	C	161	ENSP00000308578:Y161C	ENSP00000308578:Y161C	Y	+	2	0	ZNF431	21157428	0.014000	0.17966	0.001000	0.08648	0.001000	0.01503	1.290000	0.33319	-0.426000	0.07360	-0.685000	0.03747	TAT		0.328	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		14	47	0	0	0	0.020292	0	14	47				
ZNF492	57615	broad.mit.edu	37	19	22847904	22847904	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr19:22847904A>T	ENST00000456783.2	+	4	1677	c.1433A>T	c.(1432-1434)aAg>aTg	p.K478M	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AAACCCTACAAGTGTGAAGAA	0.388																																							uc002nqw.3		NA																	0					0						c.(1432-1434)AAG>ATG		zinc finger protein 492							27.0	38.0	35.0					19																	22847904		2040	4245	6285	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847904A>T	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1433A>T	19.37:g.22847904A>T	ENSP00000413660:p.Lys478Met						p.K478M	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			4	1677	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	478			C2H2-type 13.		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1433A>T	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.322863	0.23994	.	.	ENSG00000229676	ENST00000456783	T	0.20738	2.05	1.12	-2.25	0.06888	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34513	0.0900	M	0.67397	2.05	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.25676	-1.0125	9	0.87932	D	0	.	1.9926	0.03449	0.4404:0.2799:0.0:0.2797	.	478	Q9P255	ZN492_HUMAN	M	478	ENSP00000413660:K478M	ENSP00000413660:K478M	K	+	2	0	ZNF492	22639744	0.000000	0.05858	0.291000	0.24904	0.298000	0.27526	-1.751000	0.01821	0.231000	0.21079	0.228000	0.17796	AAG		0.388	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		13	31	0	0	0	0.016723	0	13	31				
PRX	57716	broad.mit.edu	37	19	40902282	40902282	+	Silent	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr19:40902282G>A	ENST00000324001.7	-	7	2247	c.1977C>T	c.(1975-1977)ctC>ctT	p.L659L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	659	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGACTTTCGGGAGCTGCACTT	0.562																																							uc002onr.2		NA																	0				ovary(2)	2						c.(1975-1977)CTC>CTT		periaxin isoform 2							88.0	99.0	95.0					19																	40902282		2203	4300	6503	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902282G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1977C>T	19.37:g.40902282G>A						PRX_uc002onq.2_Silent_p.L520L|PRX_uc002ons.2_3'UTR	p.L659L	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2246	-			659			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.1977C>T	CCDS33028.1																																																																																				0.562	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		6	177	0	0	0	0.021553	0	6	177				
PPP1R15A	23645	broad.mit.edu	37	19	49377008	49377008	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr19:49377008G>A	ENST00000200453.5	+	2	787	c.518G>A	c.(517-519)gGa>gAa	p.G173E		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	173	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GAAGAGGAGGGAGTTAACAAG	0.527																																							uc002pky.3		NA																	0				lung(1)	1						c.(517-519)GGA>GAA		protein phosphatase 1, regulatory subunit 15A							161.0	161.0	161.0					19																	49377008		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377008G>A	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.518G>A	19.37:g.49377008G>A	ENSP00000200453:p.Gly173Glu						p.G173E	NM_014330	NP_055145	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	787	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	173			Glu-rich.|Required for localization in the endoplasmic reticulum.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.518G>A	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	5.232	0.228369	0.09916	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.03441	3.93	4.3	2.12	0.27331	.	3.567800	0.01070	N	0.004808	T	0.02767	0.0083	N	0.25647	0.755	0.09310	N	1	B	0.17852	0.024	B	0.15870	0.014	T	0.42531	-0.9446	10	0.02654	T	1	.	2.0859	0.03645	0.3173:0.3599:0.3228:0.0	.	173	O75807	PR15A_HUMAN	E	173;13;131	ENSP00000200453:G173E	ENSP00000200453:G173E	G	+	2	0	PPP1R15A	54068820	0.019000	0.18553	0.005000	0.12908	0.015000	0.08874	0.834000	0.27518	0.554000	0.29061	0.561000	0.74099	GGA		0.527	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		16	45	0	0	0	0.024245	0	16	45				
PTH2	113091	broad.mit.edu	37	19	49925835	49925835	+	Silent	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr19:49925835G>A	ENST00000270631.1	-	2	294	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	65					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		TCGTCCGCCAGCGCCAGGCTC	0.741																																							uc002pnn.1		NA																	0					0						c.(193-195)CTG>TTG		parathyroid hormone 2 preproprotein							6.0	8.0	8.0					19																	49925835		1910	3802	5712	SO:0001819	synonymous_variant	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49925835G>A	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.193C>T	19.37:g.49925835G>A							p.L65L	NM_178449	NP_848544	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	2	295	-			65					Q96DJ4	Silent	SNP	ENST00000270631.1	37	c.193C>T	CCDS12763.1																																																																																				0.741	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		6	10	0	0	0	0.021553	0	6	10				
SIGLEC9	27180	broad.mit.edu	37	19	51628630	51628630	+	Silent	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr19:51628630C>T	ENST00000250360.3	+	1	466	c.399C>T	c.(397-399)caC>caT	p.H133H	SIGLEC9_ENST00000440804.3_Silent_p.H133H	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	133	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ATAAACATCACCGGCTCTCTG	0.517																																							uc002pvu.2		NA																	0				skin(1)	1						c.(397-399)CAC>CAT		sialic acid binding Ig-like lectin 9 precursor							48.0	48.0	48.0					19																	51628630		2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628630C>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.399C>T	19.37:g.51628630C>T						SIGLEC9_uc010yct.1_Silent_p.H133H	p.H133H	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	466	+		all_neural(266;0.0529)	133			Extracellular (Potential).|Ig-like V-type.		Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	c.399C>T	CCDS12825.1																																																																																				0.517	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		14	43	0	0	0	0.024245	0	14	43				
LILRA4	23547	broad.mit.edu	37	19	54848227	54848227	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr19:54848227G>T	ENST00000291759.4	-	6	1196	c.1140C>A	c.(1138-1140)ttC>ttA	p.F380L	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	380	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GACTCATGGGGAATTCAGCCT	0.607																																							uc002qfj.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(1138-1140)TTC>TTA		leukocyte immunoglobulin-like receptor subfamily							174.0	155.0	161.0					19																	54848227		2203	4298	6501	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54848227G>T	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1140C>A	19.37:g.54848227G>T	ENSP00000291759:p.Phe380Leu					LILRA4_uc002qfi.2_Missense_Mutation_p.F314L	p.F380L	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	6	1197	-	Ovarian(34;0.19)		380			Ig-like C2-type 4.|Extracellular (Potential).		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.1140C>A	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	14.26	2.481654	0.44147	.	.	ENSG00000239961	ENST00000291759	T	0.00642	6.02	2.51	1.46	0.22682	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.925560	0.08924	N	0.873989	T	0.04907	0.0132	H	0.95712	3.71	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.20207	-1.0282	10	0.72032	D	0.01	.	5.3057	0.15803	0.167:0.0:0.833:0.0	.	380	P59901	LIRA4_HUMAN	L	380	ENSP00000291759:F380L	ENSP00000291759:F380L	F	-	3	2	LILRA4	59540039	0.000000	0.05858	0.011000	0.14972	0.039000	0.13416	-0.040000	0.12104	0.625000	0.30304	0.455000	0.32223	TTC		0.607	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		47	141	1	0	5.2432e-18	0.048971	7.58591e-18	47	141				
LENG8	114823	broad.mit.edu	37	19	54967251	54967251	+	Silent	SNP	T	T	G			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr19:54967251T>G	ENST00000326764.5	+	9	1610	c.1131T>G	c.(1129-1131)ggT>ggG	p.G377G	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	340	Ser-rich.							p.G377G(2)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGGGCGGGGGTGCCCCGTCCC	0.687																																							uc002qfv.1		NA																	2	Substitution - coding silent(2)		urinary_tract(1)|central_nervous_system(1)	central_nervous_system(1)|pancreas(1)	2						c.(1018-1020)GGT>GGG		RecName: Full=Leukocyte receptor cluster member 8;																																				SO:0001819	synonymous_variant	114823						protein binding	g.chr19:54967251T>G	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1131T>G	19.37:g.54967251T>G						LENG8_uc002qfw.2_Silent_p.G377G	p.G340G			Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	8	1164	+	Ovarian(34;0.19)		340					B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	c.1020T>G	CCDS12894.1																																																																																				0.687	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		8	31	0	0	0	0.010729	0	8	31				
ZNF471	57573	broad.mit.edu	37	19	57037191	57037191	+	Silent	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr19:57037191C>T	ENST00000308031.5	+	5	1888	c.1755C>T	c.(1753-1755)tcC>tcT	p.S585S	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	585					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ATAGCTCATCCTGTGCTCAGC	0.403																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1753-1755)TCC>TCT		zinc finger protein 471							78.0	74.0	76.0					19																	57037191		2203	4300	6503	SO:0001819	synonymous_variant	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57037191C>T	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1755C>T	19.37:g.57037191C>T							p.S585S	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1888	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	585			C2H2-type 14.		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Silent	SNP	ENST00000308031.5	37	c.1755C>T	CCDS12945.1																																																																																				0.403	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		4	83	0	0	0	0.009096	0	4	83				
ZNF211	10520	broad.mit.edu	37	19	58152547	58152547	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr19:58152547G>T	ENST00000347302.3	+	3	872	c.693G>T	c.(691-693)tgG>tgT	p.W231C	ZNF211_ENST00000299871.5_Missense_Mutation_p.W296C|ZNF211_ENST00000391703.3_Missense_Mutation_p.W170C|ZNF211_ENST00000544273.1_Missense_Mutation_p.W243C|ZNF211_ENST00000240731.4_Missense_Mutation_p.W244C|ZNF211_ENST00000420680.1_Missense_Mutation_p.W235C|ZNF211_ENST00000254182.7_Missense_Mutation_p.W222C|ZNF211_ENST00000541801.1_Missense_Mutation_p.W222C	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCACAACTGGGGAAAATGCA	0.448																																							uc002qpq.2		NA																	0				ovary(2)	2						c.(691-693)TGG>TGT		zinc finger protein 211 isoform 2							77.0	78.0	78.0					19																	58152547		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152547G>T	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.693G>T	19.37:g.58152547G>T	ENSP00000339562:p.Trp231Cys					ZNF211_uc010yhb.1_Missense_Mutation_p.W235C|ZNF211_uc002qpp.2_Missense_Mutation_p.W244C|ZNF211_uc002qpr.2_Missense_Mutation_p.W295C|ZNF211_uc002qps.2_Missense_Mutation_p.W296C|ZNF211_uc002qpt.2_Missense_Mutation_p.W243C|ZNF211_uc010yhc.1_Missense_Mutation_p.W243C|ZNF211_uc010yhd.1_Missense_Mutation_p.W170C|ZNF211_uc010yhe.1_Missense_Mutation_p.W222C	p.W231C	NM_198855	NP_942152	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	873	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	231					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.693G>T	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.005|0.005	-2.154313|-2.154313	0.00325|0.00325	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000407202|ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	.|T;T;T;T;T;T;T;T	.|0.07216	.|3.3;3.33;3.21;3.23;3.21;3.32;3.31;3.32	3.65|3.65	-0.138|-0.138	0.13464|0.13464	.|.	.|.	.|.	.|.	.|.	T|T	0.01156|0.01156	0.0038|0.0038	N|N	0.00084|0.00084	-2.21|-2.21	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.16802	.|0.019;0.001;0.004;0.011;0.011;0.011	.|B;B;B;B;B;B	.|0.15052	.|0.012;0.001;0.006;0.006;0.005;0.005	T|T	0.46898|0.46898	-0.9158|-0.9158	5|9	.|0.02654	.|T	.|1	.|.	3.2977|3.2977	0.06971|0.06971	0.1064:0.169:0.552:0.1726|0.1064:0.169:0.552:0.1726	.|.	.|235;243;296;222;231;244	.|Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.|.;.;.;.;ZN211_HUMAN;.	W|C	235|235;231;222;170;222;296;243;244	.|ENSP00000399193:W235C;ENSP00000339562:W231C;ENSP00000254182:W222C;ENSP00000375584:W170C;ENSP00000442601:W222C;ENSP00000299871:W296C;ENSP00000441386:W243C;ENSP00000240731:W244C	.|ENSP00000240731:W244C	G|W	+|+	1|3	0|0	ZNF211|ZNF211	62844359|62844359	0.000000|0.000000	0.05858|0.05858	0.156000|0.156000	0.22583|0.22583	0.063000|0.063000	0.16089|0.16089	-0.650000|-0.650000	0.05378|0.05378	0.331000|0.331000	0.23511|0.23511	0.591000|0.591000	0.81541|0.81541	GGG|TGG		0.448	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			31	85	1	0	3.99451e-17	0.041601	5.69846e-17	31	85				
ATP6V1C2	245973	broad.mit.edu	37	2	10922461	10922461	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr2:10922461T>A	ENST00000272238.4	+	13	1263	c.1154T>A	c.(1153-1155)tTc>tAc	p.F385Y	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.F339Y	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	385					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AACTCTGTCTTCCGACATCTG	0.443																																					NSCLC(188;1042 2136 10807 16813 47705)	NSCLC(188;1042 2136 10807 16813 47705)	uc002ras.2		NA																	0				ovary(1)	1						c.(1153-1155)TTC>TAC		vacuolar H+ ATPase C2 isoform a							83.0	75.0	77.0					2																	10922461		2203	4300	6503	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10922461T>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.1154T>A	2.37:g.10922461T>A	ENSP00000272238:p.Phe385Tyr					ATP6V1C2_uc002rat.2_Missense_Mutation_p.F339Y	p.F385Y	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	13	1263	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		385					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.1154T>A	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	T	9.497	1.102147	0.20632	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.39997	1.05;1.05	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.23727	0.0574	N	0.10685	0.025	0.51767	D	0.999932	B;B	0.19073	0.006;0.033	B;B	0.25291	0.02;0.059	T	0.12344	-1.0551	10	0.02654	T	1	-16.2272	16.3015	0.82820	0.0:0.0:0.0:1.0	.	339;385	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	Y	385;339	ENSP00000272238:F385Y;ENSP00000371077:F339Y	ENSP00000272238:F385Y	F	+	2	0	ATP6V1C2	10839912	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	3.187000	0.50950	2.239000	0.73571	0.533000	0.62120	TTC		0.443	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		15	56	0	0	0	0.024245	0	15	56				
BCL11A	53335	broad.mit.edu	37	2	60689148	60689148	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr2:60689148A>T	ENST00000335712.6	-	4	1126	c.899T>A	c.(898-900)gTg>gAg	p.V300E	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.V300E|BCL11A_ENST00000538214.1_Missense_Mutation_p.V266E|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.V266E	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	300	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CAACCGCAGCACCCTGTCAAA	0.612			T	IGH@	B-CLL																																		uc002sae.1		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(898-900)GTG>GAG		B-cell CLL/lymphoma 11A isoform 1							46.0	52.0	50.0					2																	60689148		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689148A>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.899T>A	2.37:g.60689148A>T	ENSP00000338774:p.Val300Glu					BCL11A_uc002sab.2_Missense_Mutation_p.V300E|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.V266E|BCL11A_uc002sad.1_Missense_Mutation_p.V148E|BCL11A_uc002saf.1_Missense_Mutation_p.V266E	p.V300E	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1127	-			300			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.899T>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.286289	0.40494	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.09911	2.93;3.19;3.15;3.13	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.31888	0.0811	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;D;D;D	0.83275	0.996;0.98;0.993;0.993	T	0.01185	-1.1425	10	0.40728	T	0.16	-3.0404	15.9829	0.80127	1.0:0.0:0.0:0.0	.	266;266;300;300	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	E	300;336;266;300;266	ENSP00000349300:V300E;ENSP00000438303:V266E;ENSP00000338774:V300E;ENSP00000351307:V266E	ENSP00000338774:V300E	V	-	2	0	BCL11A	60542652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.177000	0.69029	0.460000	0.39030	GTG		0.612	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		22	64	0	0	0	0.021523	0	22	64				
THNSL2	55258	broad.mit.edu	37	2	88484880	88484880	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr2:88484880G>T	ENST00000324166.5	+	7	2802	c.1111G>T	c.(1111-1113)Gat>Tat	p.D371Y	THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.D371Y|THNSL2_ENST00000449349.1_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	371					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GTCAGTGTCGGATGAAGCCAT	0.567																																							uc002ssz.3		NA																	0				ovary(1)	1						c.(1111-1113)GAT>TAT		threonine synthase-like 2							41.0	47.0	45.0					2																	88484880		2186	4296	6482	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88484880G>T		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1111G>T	2.37:g.88484880G>T	ENSP00000327323:p.Asp371Tyr					THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.3_Intron|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.D371Y|THNSL2_uc010fhe.2_Intron	p.D371Y	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN			8	1264	+			371					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.1111G>T	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681595	0.47991	.	.	ENSG00000144115	ENST00000358591;ENST00000324166	D;D	0.97791	-4.54;-4.54	5.81	4.94	0.65067	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.100606	0.64402	D	0.000004	D	0.99042	0.9672	H	0.95780	3.72	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.99232	1.0882	10	0.87932	D	0	.	14.0176	0.64533	0.072:0.0:0.928:0.0	.	371	Q86YJ6	THNS2_HUMAN	Y	371	ENSP00000351402:D371Y;ENSP00000327323:D371Y	ENSP00000327323:D371Y	D	+	1	0	THNSL2	88265995	1.000000	0.71417	0.049000	0.19019	0.002000	0.02628	5.501000	0.66950	1.470000	0.48102	0.655000	0.94253	GAT		0.567	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		15	36	1	0	2.48551e-13	0.0333	3.38029e-13	15	36				
XIRP2	129446	broad.mit.edu	37	2	168100016	168100016	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr2:168100016G>T	ENST00000409195.1	+	9	2203	c.2114G>T	c.(2113-2115)gGa>gTa	p.G705V	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G483V|XIRP2_ENST00000295237.9_Missense_Mutation_p.G705V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	530					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATCAACTTGGACAGCTTCAT	0.383																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(2113-2115)GGA>GTA		xin actin-binding repeat containing 2 isoform 1							75.0	73.0	74.0					2																	168100016		1926	4120	6046	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100016G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2114G>T	2.37:g.168100016G>T	ENSP00000386840:p.Gly705Val					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G530V|XIRP2_uc010fpq.2_Missense_Mutation_p.G483V|XIRP2_uc010fpr.2_Intron	p.G705V	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2132	+			530					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2114G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993707	0.54041	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.27256	1.72;1.72;1.68	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.72982	0.953;0.979;0.979	T	0.53143	-0.8480	10	0.87932	D	0	-16.5777	13.717	0.62702	0.0728:0.0:0.9272:0.0	.	530;530;483	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	705;705;483	ENSP00000386840:G705V;ENSP00000295237:G705V;ENSP00000387255:G483V	ENSP00000295237:G705V	G	+	2	0	XIRP2	167808262	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.353000	0.59411	2.810000	0.96702	0.650000	0.86243	GGA		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		18	52	1	0	1.55795e-14	0.012319	2.16205e-14	18	52				
XIRP2	129446	broad.mit.edu	37	2	168107682	168107683	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr2:168107682_168107683GG>TT	ENST00000409195.1	+	9	9869_9870	c.9780_9781GG>TT	c.(9778-9783)gaGGaa>gaTTaa	p.3260_3261EE>D*	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.3038_3039EE>D*|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.3260_3261EE>D*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3085					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.E3260E(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACGCTCAAGAGGAAATCAGGAA	0.421																																							uc002udx.2		NA																	1	Substitution - coding silent(1)	p.E3260G(1)	lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(9778-9783)GAGGAA>GATTAA		xin actin-binding repeat containing 2 isoform 1																																				SO:0001587	stop_gained	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107682_168107683GG>TT	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	Exception_encountered	2.37:g.168107682_168107683delinsTT	ENSP00000386840:p.E3260_E3261delinsD*					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.3085_3086EE>D*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.3038_3039EE>D*|XIRP2_uc010fpr.2_Intron	p.3260_3261EE>D*	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9798_9799	+			3085_3086					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	DNP	ENST00000409195.1	37	c.9780_9781GG>TT	CCDS42769.1																																																																																				0.421	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		22	57	0	0	0	0.004672	0	22	57				
EVX2	344191	broad.mit.edu	37	2	176947074	176947074	+	Silent	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr2:176947074C>T	ENST00000308618.4	-	2	667	c.531G>A	c.(529-531)gcG>gcA	p.A177A		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	177					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AGCCACCCAGCGCCGCGCTCC	0.721																																							uc010zeu.1		NA																	0				ovary(2)	2						c.(529-531)GCG>GCA		even-skipped homeobox 2							7.0	9.0	8.0					2																	176947074		2059	4055	6114	SO:0001819	synonymous_variant	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176947074C>T		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.531G>A	2.37:g.176947074C>T							p.A177A	NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	2	717	-			177						Silent	SNP	ENST00000308618.4	37	c.531G>A	CCDS33333.1																																																																																				0.721	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			4	7	0	0	0	0.009096	0	4	7				
EVX2	344191	broad.mit.edu	37	2	176948244	176948244	+	Silent	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr2:176948244G>T	ENST00000308618.4	-	1	397	c.261C>A	c.(259-261)acC>acA	p.T87T		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	87					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGGAGGAGACGGTGCTTTCGC	0.627																																							uc010zeu.1		NA																	0				ovary(2)	2						c.(259-261)ACC>ACA		even-skipped homeobox 2							57.0	65.0	62.0					2																	176948244		2203	4300	6503	SO:0001819	synonymous_variant	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176948244G>T		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.261C>A	2.37:g.176948244G>T							p.T87T	NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	1	447	-			87						Silent	SNP	ENST00000308618.4	37	c.261C>A	CCDS33333.1																																																																																				0.627	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			13	41	1	0	6.72482e-11	0.024245	8.794e-11	13	41				
TTN	7273	broad.mit.edu	37	2	179545040	179545040	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr2:179545040C>A	ENST00000591111.1	-	137	32632	c.32408G>T	c.(32407-32409)aGg>aTg	p.R10803M	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R11120M|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9876M|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCGACAACCCTCTTGGGCTT	0.403																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(29626-29628)AGG>ATG		titin isoform N2-A							193.0	185.0	187.0					2																	179545040		1859	4097	5956	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179545040C>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.32408G>T	2.37:g.179545040C>A	ENSP00000465570:p.Arg10803Met					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R6537M|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	p.R9876M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		136	29851	-			10803					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.29627G>T		.	.	.	.	.	.	.	.	.	.	C	8.707	0.911101	0.17833	.	.	ENSG00000155657	ENST00000342992	T	0.70986	-0.53	5.17	1.4	0.22301	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.54902	0.1887	N	0.22421	0.69	0.80722	D	1	P	0.34462	0.454	B	0.37833	0.259	T	0.52388	-0.8582	9	0.87932	D	0	.	6.2927	0.21069	0.0:0.4918:0.0:0.5082	.	10803	Q8WZ42	TITIN_HUMAN	M	9876	ENSP00000343764:R9876M	ENSP00000343764:R9876M	R	-	2	0	TTN	179253285	0.046000	0.20272	0.996000	0.52242	0.583000	0.36354	-0.109000	0.10840	0.413000	0.25759	-0.251000	0.11542	AGG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		44	144	1	0	5.78141e-17	0.045515	8.19034e-17	44	144				
ZNF804A	91752	broad.mit.edu	37	2	185801843	185801843	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr2:185801843G>T	ENST00000302277.6	+	4	2314	c.1720G>T	c.(1720-1722)Gat>Tat	p.D574Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	574							metal ion binding (GO:0046872)	p.D574Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGACACTCTAGATGAAAAATA	0.299																																							uc002uph.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1720-1722)GAT>TAT		zinc finger protein 804A							31.0	37.0	35.0					2																	185801843		2151	4277	6428	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801843G>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1720G>T	2.37:g.185801843G>T	ENSP00000303252:p.Asp574Tyr						p.D574Y	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2314	+			574					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1720G>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	8.516	0.867631	0.17250	.	.	ENSG00000170396	ENST00000302277	T	0.06849	3.25	5.5	0.495	0.16890	.	0.430566	0.21880	N	0.067756	T	0.09686	0.0238	L	0.48642	1.525	0.20196	N	0.999924	P	0.45986	0.87	P	0.46975	0.533	T	0.14144	-1.0483	10	0.72032	D	0.01	-3.1981	6.007	0.19551	0.2905:0.1339:0.5756:0.0	.	574	Q7Z570	Z804A_HUMAN	Y	574	ENSP00000303252:D574Y	ENSP00000303252:D574Y	D	+	1	0	ZNF804A	185510088	0.627000	0.27129	0.028000	0.17463	0.603000	0.37013	0.903000	0.28475	-0.205000	0.10219	0.650000	0.86243	GAT		0.299	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		15	45	1	0	3.41278e-10	0.0333	4.3513e-10	15	45				
DNAH7	56171	broad.mit.edu	37	2	196689076	196689076	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr2:196689076C>A	ENST00000312428.6	-	49	9294	c.9194G>T	c.(9193-9195)cGg>cTg	p.R3065L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3065	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCCCCAAGCCGGATACATGT	0.413																																							uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(9193-9195)CGG>CTG		dynein, axonemal, heavy chain 7							147.0	140.0	142.0					2																	196689076		1867	4094	5961	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196689076C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9194G>T	2.37:g.196689076C>A	ENSP00000311273:p.Arg3065Leu						p.R3065L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			49	9295	-			3065			AAA 5 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.9194G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891322	0.52014	.	.	ENSG00000118997	ENST00000312428	T	0.23147	1.92	4.97	4.97	0.65823	.	0.064498	0.64402	D	0.000007	T	0.54743	0.1877	M	0.89840	3.065	0.80722	D	1	P	0.43662	0.814	P	0.54210	0.745	T	0.63703	-0.6577	10	0.87932	D	0	.	18.3781	0.90441	0.0:1.0:0.0:0.0	.	3065	Q8WXX0	DYH7_HUMAN	L	3065	ENSP00000311273:R3065L	ENSP00000311273:R3065L	R	-	2	0	DNAH7	196397321	0.981000	0.34729	0.997000	0.53966	0.022000	0.10575	3.169000	0.50809	2.740000	0.93945	0.650000	0.86243	CGG		0.413	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		24	83	1	0	3.96558e-24	0.024334	6.03716e-24	24	83				
SMARCAL1	50485	broad.mit.edu	37	2	217285103	217285103	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr2:217285103G>A	ENST00000357276.4	+	5	1274	c.944G>A	c.(943-945)aGc>aAc	p.S315N	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S315N	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	315			S -> R (in dbSNP:rs2066522).		cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCCTCCACCAGCAGTGAGGGA	0.577									Schimke Immuno-Osseous Dysplasia																														uc002vgc.3		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(943-945)AGC>AAC		SWI/SNF-related matrix-associated							89.0	72.0	78.0					2																	217285103		2203	4300	6503	SO:0001583	missense	50485	Schimke_Immuno-Osseous_Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217285103G>A	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.944G>A	2.37:g.217285103G>A	ENSP00000349823:p.Ser315Asn					SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.S315N|SMARCAL1_uc010fvg.2_Missense_Mutation_p.S315N	p.S315N	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	5	1274	+		Renal(323;0.0458)	315					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.944G>A	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840553	0.71488	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128;ENST00000412913	D;D;T;D;T	0.86030	-2.05;-2.05;1.5;-2.06;0.66	3.25	3.25	0.37280	.	1.145540	0.06356	N	0.710693	T	0.80819	0.4696	L	0.36672	1.1	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.65742	-0.6094	10	0.34782	T	0.22	.	13.1932	0.59723	0.0:0.0:1.0:0.0	.	315	Q9NZC9	SMAL1_HUMAN	N	315;315;214;179;35	ENSP00000349823:S315N;ENSP00000350940:S315N;ENSP00000392997:S214N;ENSP00000375974:S179N;ENSP00000390248:S35N	ENSP00000349823:S315N	S	+	2	0	SMARCAL1	216993348	0.000000	0.05858	0.002000	0.10522	0.922000	0.55478	-0.044000	0.12023	1.638000	0.50547	0.561000	0.74099	AGC		0.577	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			3	50	0	0	0	0.004672	0	3	50				
PTPRN	5798	broad.mit.edu	37	2	220164773	220164773	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr2:220164773G>C	ENST00000295718.2	-	9	1610	c.1370C>G	c.(1369-1371)aCg>aGg	p.T457R	PTPRN_ENST00000423636.2_Missense_Mutation_p.T367R|PTPRN_ENST00000409251.3_Missense_Mutation_p.T457R|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	457					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TCCTGCCACCGTGGGCTGGCT	0.602																																							uc002vkz.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1369-1371)ACG>AGG		protein tyrosine phosphatase, receptor type, N							62.0	68.0	66.0					2																	220164773		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220164773G>C		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1370C>G	2.37:g.220164773G>C	ENSP00000295718:p.Thr457Arg					PTPRN_uc010zlc.1_Missense_Mutation_p.T367R|PTPRN_uc002vla.2_Missense_Mutation_p.T457R	p.T457R	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	9	1459	-		Renal(207;0.0474)	457			Extracellular (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1370C>G	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.880074	0.33162	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.03468	3.92;3.94;3.95	4.36	4.36	0.52297	.	0.313519	0.26955	N	0.021657	T	0.04452	0.0122	N	0.24115	0.695	0.26660	N	0.971926	P;B	0.51240	0.943;0.006	P;B	0.47075	0.536;0.004	T	0.46512	-0.9186	10	0.25106	T	0.35	.	13.9506	0.64113	0.0:0.0:1.0:0.0	.	457;457	Q6NSL1;Q16849	.;PTPRN_HUMAN	R	457;457;457;367	ENSP00000386638:T457R;ENSP00000295718:T457R;ENSP00000444244:T367R	ENSP00000295718:T457R	T	-	2	0	PTPRN	219873017	0.977000	0.34250	0.902000	0.35471	0.606000	0.37113	2.565000	0.45939	2.241000	0.73720	0.561000	0.74099	ACG		0.602	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			21	68	0	0	0	0.055883	0	21	68				
COL4A4	1286	broad.mit.edu	37	2	227896701	227896701	+	Silent	SNP	T	T	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr2:227896701T>A	ENST00000396625.3	-	40	3984	c.3777A>T	c.(3775-3777)ccA>ccT	p.P1259P	COL4A4_ENST00000329662.7_Silent_p.P1259P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1259	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GATCTCCAGGTGGACCCGGGT	0.537																																							uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(3775-3777)CCA>CCT		alpha 4 type IV collagen precursor							43.0	46.0	45.0					2																	227896701		1905	4128	6033	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227896701T>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3777A>T	2.37:g.227896701T>A							p.P1259P	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	40	4431	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1259			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.3777A>T	CCDS42828.1																																																																																				0.537	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		9	25	0	0	0	0.047766	0	9	25				
ANKMY1	51281	broad.mit.edu	37	2	241420440	241420440	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr2:241420440T>C	ENST00000272972.3	-	16	2907	c.2693A>G	c.(2692-2694)tAc>tGc	p.Y898C	ANKMY1_ENST00000373318.2_Missense_Mutation_p.Y677C|ANKMY1_ENST00000403283.1_Missense_Mutation_p.Y800C|ANKMY1_ENST00000391987.1_Missense_Mutation_p.Y898C|ANKMY1_ENST00000373320.4_Missense_Mutation_p.Y668C|ANKMY1_ENST00000361678.4_Missense_Mutation_p.Y674C|ANKMY1_ENST00000406958.1_Missense_Mutation_p.Y659C|ANKMY1_ENST00000401804.1_Missense_Mutation_p.Y987C	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	898							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CAGGATCCCGTAGCAGCGAGG	0.617																																							uc002vyz.1		NA																	0				central_nervous_system(1)	1						c.(2692-2694)TAC>TGC		ankyrin repeat and MYND domain containing 1							109.0	103.0	105.0					2																	241420440		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241420440T>C	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.2693A>G	2.37:g.241420440T>C	ENSP00000272972:p.Tyr898Cys					ANKMY1_uc002vza.1_Missense_Mutation_p.Y674C|ANKMY1_uc010fzd.1_Missense_Mutation_p.Y987C|ANKMY1_uc002vzb.1_Missense_Mutation_p.Y659C|ANKMY1_uc002vzc.1_Missense_Mutation_p.Y677C|ANKMY1_uc002vzd.1_Missense_Mutation_p.Y721C	p.Y898C	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	16	2922	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	898			MYND-type.		B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.2693A>G	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	T	8.759	0.923116	0.18056	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804	T;T;T;T;T;T;T;T	0.57273	2.82;3.58;0.42;2.17;0.42;4.33;2.41;0.41	3.65	3.65	0.41850	Zinc finger, MYND-type (3);	0.406620	0.20541	U	0.090308	T	0.57446	0.2054	L	0.29908	0.895	0.80722	D	1	B;B;D;B;B;B	0.89917	0.125;0.246;1.0;0.377;0.166;0.125	B;B;D;B;B;B	0.79108	0.085;0.086;0.992;0.236;0.12;0.085	T	0.54754	-0.8246	10	0.39692	T	0.17	-23.0511	10.513	0.44872	0.0:0.0:0.0:1.0	.	898;668;677;659;674;898	Q4ZFV3;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6-2;Q9P2S6	.;.;.;.;.;ANKY1_HUMAN	C	677;659;898;674;898;668;800;987	ENSP00000362415:Y677C;ENSP00000384555:Y659C;ENSP00000272972:Y898C;ENSP00000355097:Y674C;ENSP00000375847:Y898C;ENSP00000362417:Y668C;ENSP00000383968:Y800C;ENSP00000385887:Y987C	ENSP00000272972:Y898C	Y	-	2	0	ANKMY1	241069113	0.301000	0.24444	0.904000	0.35570	0.217000	0.24651	0.424000	0.21330	1.444000	0.47605	0.383000	0.25322	TAC		0.617	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		16	63	0	0	0	0.038395	0	16	63				
BPIFA3	128861	broad.mit.edu	37	20	31811753	31811753	+	Silent	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr20:31811753G>A	ENST00000375454.3	+	2	474	c.264G>A	c.(262-264)caG>caA	p.Q88Q	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.Q88Q	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	88	Poly-Gln.					extracellular region (GO:0005576)	lipid binding (GO:0008289)										AACACCAGCAGCAGCAAGAGA	0.572																																							uc002wyr.2		NA																	0				ovary(1)|skin(1)	2						c.(262-264)CAG>CAA		short long palate, lung and nasal epithelium							74.0	63.0	67.0					20																	31811753		2203	4300	6503	SO:0001819	synonymous_variant	128861					extracellular region	lipid binding	g.chr20:31811753G>A		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.264G>A	20.37:g.31811753G>A						C20orf71_uc002wys.2_Silent_p.Q88Q	p.Q88Q	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN			2	472	+			88			Poly-Gln.		Q5JWG8|Q6NZ38	Silent	SNP	ENST00000375454.3	37	c.264G>A	CCDS13216.2																																																																																				0.572	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		4	68	0	0	0	0.009096	0	4	68				
KCNQ2	3785	broad.mit.edu	37	20	62071028	62071028	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr20:62071028A>C	ENST00000359125.2	-	6	1024	c.850T>G	c.(850-852)Tac>Gac	p.Y284D	KCNQ2_ENST00000360480.3_Missense_Mutation_p.Y284D|KCNQ2_ENST00000344462.4_Missense_Mutation_p.Y284D|KCNQ2_ENST00000357249.2_Missense_Mutation_p.Y284D|KCNQ2_ENST00000354587.3_Missense_Mutation_p.Y284D|KCNQ2_ENST00000344425.5_Missense_Mutation_p.Y284D|KCNQ2_ENST00000370224.1_Missense_Mutation_p.Y284D|KCNQ2_ENST00000359689.1_Missense_Mutation_p.Y284D	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	284			Y -> C (in BFNS1; 30%-60% reduction of wt heteromeric current. Ratio 1:1 or 20%- 30%; ratio of 1:1:2; dbSNP:rs28939683). {ECO:0000269|PubMed:14534157, ECO:0000269|PubMed:9425895}.		axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GTCTGGGGGTACTTGTCCCCG	0.642																																							uc002yey.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(850-852)TAC>GAC		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						210.0	153.0	172.0					20																	62071028		2203	4300	6503	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62071028A>C	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.850T>G	20.37:g.62071028A>C	ENSP00000352035:p.Tyr284Asp					KCNQ2_uc002yez.1_Missense_Mutation_p.Y284D|KCNQ2_uc002yfa.1_Missense_Mutation_p.Y284D|KCNQ2_uc002yfb.1_Missense_Mutation_p.Y284D|KCNQ2_uc011aax.1_Missense_Mutation_p.Y284D|KCNQ2_uc002yfc.1_Missense_Mutation_p.Y284D	p.Y284D	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		6	1027	-	all_cancers(38;1.24e-11)		284					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.850T>G	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.526794	0.64860	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06	4.01	4.01	0.46588	Ion transport (1);	0.240967	0.35262	N	0.003340	D	0.98795	0.9594	M	0.81682	2.555	0.53688	D	0.999975	P;P;D;D;D;D	0.65815	0.853;0.467;0.995;0.991;0.991;0.993	P;B;P;P;P;P	0.60541	0.794;0.334;0.804;0.804;0.804;0.876	D	0.99379	1.0922	10	0.87932	D	0	-19.9537	13.2151	0.59854	1.0:0.0:0.0:0.0	.	284;284;284;284;284;284	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	D	284	ENSP00000349789:Y284D;ENSP00000352035:Y284D;ENSP00000359246:Y284D;ENSP00000346601:Y284D;ENSP00000352718:Y284D;ENSP00000399612:Y284D;ENSP00000353668:Y284D;ENSP00000339611:Y284D;ENSP00000359244:Y284D;ENSP00000359242:Y284D;ENSP00000359241:Y284D;ENSP00000345523:Y284D	ENSP00000345523:Y284D	Y	-	1	0	KCNQ2	61541472	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	2.477000	0.45180	1.554000	0.49487	0.459000	0.35465	TAC		0.642	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		14	61	0	0	0	0.024245	0	14	61				
MORC3	23515	broad.mit.edu	37	21	37741631	37741631	+	Silent	SNP	T	T	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr21:37741631T>A	ENST00000400485.1	+	15	2041	c.1965T>A	c.(1963-1965)gtT>gtA	p.V655V	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	655					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AAGAAACTGTTGAAGACGAGA	0.438																																							uc002yvi.2		NA																	0				ovary(2)	2						c.(1963-1965)GTT>GTA		MORC family CW-type zinc finger 3							106.0	101.0	103.0					21																	37741631		1940	4143	6083	SO:0001819	synonymous_variant	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741631T>A	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1965T>A	21.37:g.37741631T>A							p.V655V	NM_015358	NP_056173	Q14149	MORC3_HUMAN			15	2041	+			655					A8KA92|Q9UEZ2	Silent	SNP	ENST00000400485.1	37	c.1965T>A	CCDS42924.1																																																																																				0.438	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		24	73	0	0	0	0.014323	0	24	73				
COL18A1	80781	broad.mit.edu	37	21	46896293	46896293	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr21:46896293C>T	ENST00000359759.4	+	5	2093	c.2072C>T	c.(2071-2073)gCg>gTg	p.A691V	COL18A1_ENST00000400337.2_Missense_Mutation_p.A276V|COL18A1_ENST00000355480.5_Missense_Mutation_p.A456V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	691	Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGGCTCCCCGCGCCACCCCCC	0.637																																							uc011afs.1		NA																	0				central_nervous_system(1)	1						c.(2071-2073)GCG>GTG		alpha 1 type XVIII collagen isoform 3 precursor							40.0	44.0	42.0					21																	46896293		1980	4144	6124	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46896293C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2072C>T	21.37:g.46896293C>T	ENSP00000352798:p.Ala691Val					COL18A1_uc002zhg.2_Missense_Mutation_p.A276V|COL18A1_uc002zhi.2_Missense_Mutation_p.A456V	p.A691V	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	5	2093	+			691			Nonhelical region 1 (NC1).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.2072C>T		.	.	.	.	.	.	.	.	.	.	C	9.738	1.164181	0.21538	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.90732	-2.7;-2.72;-2.61	3.85	-6.17	0.02091	.	7.541990	0.01135	U	0.006060	T	0.80412	0.4618	N	0.19112	0.55	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.01281	0.0;0.0;0.0	T	0.67757	-0.5588	10	0.28530	T	0.3	.	4.9463	0.13991	0.2922:0.2922:0.0:0.4156	.	691;456;276	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	V	276;276;456;691;691	ENSP00000383191:A276V;ENSP00000347665:A456V;ENSP00000352798:A691V	ENSP00000347665:A456V	A	+	2	0	COL18A1	45720721	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.428000	0.06991	-1.088000	0.03077	-2.220000	0.00296	GCG		0.637	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			9	27	0	0	0	0.047766	0	9	27				
MICAL3	57553	broad.mit.edu	37	22	18300821	18300822	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr22:18300821_18300822CC>AA	ENST00000441493.2	-	26	4957_4958	c.4605_4606GG>TT	c.(4603-4608)gaGGac>gaTTac	p.1535_1536ED>DY	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1535					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGGCTTGAGTCCTCAGTCTTGT	0.629																																							uc002zng.3		NA																	0					0						c.(4603-4608)GAGGAC>GATTAC		microtubule associated monoxygenase, calponin																																				SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18300821_18300822CC>AA	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4605_4606delinsAA	22.37:g.18300821_18300822delinsAA	ENSP00000416015:p.E1535_D1536delinsDY					MICAL3_uc011agl.1_Missense_Mutation_p.1451_1452ED>DY|MICAL3_uc010gre.1_5'Flank	p.1535_1536ED>DY	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4958_4959	-		all_epithelial(15;0.198)	1535_1536					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	DNP	ENST00000441493.2	37	c.4605_4606GG>TT	CCDS46659.1																																																																																				0.629	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			8	22	0	0	0	0.004672	0	8	22				
PPARA	5465	broad.mit.edu	37	22	46627756	46627756	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr22:46627756C>T	ENST00000396000.2	+	7	1044	c.779C>T	c.(778-780)gCc>gTc	p.A260V	PPARA_ENST00000407236.1_Missense_Mutation_p.A260V|PPARA_ENST00000262735.5_Missense_Mutation_p.A260V|PPARA_ENST00000402126.1_Missense_Mutation_p.A260V|PPARA_ENST00000434345.2_3'UTR			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	260					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	AAGCTGGTGGCCAATGGCATC	0.552																																							uc003bgw.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(778-780)GCC>GTC		peroxisome proliferative activated receptor,	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						76.0	54.0	62.0					22																	46627756		2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46627756C>T	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.779C>T	22.37:g.46627756C>T	ENSP00000379322:p.Ala260Val					PPARA_uc003bgx.1_Missense_Mutation_p.A260V|PPARA_uc010hab.1_Missense_Mutation_p.A260V|PPARA_uc003bhb.1_Missense_Mutation_p.A260V|PPARA_uc010hac.1_Missense_Mutation_p.A57V	p.A260V	NM_005036	NP_005027	Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	8	1045	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	260					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.779C>T	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061456	0.55432	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000535613;ENST00000407236;ENST00000402126	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.48	5.48	0.80851	Nuclear hormone receptor, ligand-binding (2);	0.198202	0.53938	D	0.000048	T	0.54870	0.1885	N	0.22421	0.69	0.80722	D	1	B;B	0.23591	0.0;0.088	B;B	0.21151	0.0;0.033	T	0.49031	-0.8981	10	0.28530	T	0.3	.	18.3591	0.90368	0.0:1.0:0.0:0.0	.	41;260	F5H1U1;Q07869	.;PPARA_HUMAN	V	260;260;41;260;260	ENSP00000379322:A260V;ENSP00000262735:A260V;ENSP00000385523:A260V;ENSP00000385246:A260V	ENSP00000262735:A260V	A	+	2	0	PPARA	45006420	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.863000	0.62983	2.576000	0.86940	0.655000	0.94253	GCC		0.552	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		8	27	0	0	0	0.038147	0	8	27				
STAB1	23166	broad.mit.edu	37	3	52544224	52544224	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr3:52544224C>A	ENST00000321725.6	+	24	2677	c.2601C>A	c.(2599-2601)caC>caA	p.H867Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	867	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCTGCTCCCACCCGGACCGTG	0.622																																							uc003dej.2		NA																	0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(2599-2601)CAC>CAA		stabilin 1 precursor							107.0	105.0	105.0					3																	52544224		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52544224C>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2601C>A	3.37:g.52544224C>A	ENSP00000312946:p.His867Gln						p.H867Q	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	24	2675	+			867			Extracellular (Potential).|EGF-like 7.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.2601C>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	5.759	0.324443	0.10900	.	.	ENSG00000010327	ENST00000321725	T	0.02890	4.12	5.39	1.09	0.20402	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.752012	0.12625	N	0.452693	T	0.01695	0.0054	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.47156	-0.9139	10	0.11485	T	0.65	.	11.4391	0.50086	0.1256:0.2688:0.6056:0.0	.	867	Q9NY15	STAB1_HUMAN	Q	867	ENSP00000312946:H867Q	ENSP00000312946:H867Q	H	+	3	2	STAB1	52519264	0.002000	0.14202	0.328000	0.25416	0.885000	0.51271	0.051000	0.14141	0.603000	0.29913	0.655000	0.94253	CAC		0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		18	79	1	0	0.006122	0.038395	0.00637188	18	79				
PBRM1	55193	broad.mit.edu	37	3	52584762	52584762	+	Splice_Site	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr3:52584762C>A	ENST00000296302.7	-	28	4682		c.e28+1		PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|RNU6-856P_ENST00000516959.1_RNA|SMIM4_ENST00000476842.1_Intron			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGGAGGCTCACCTGTTGTCCA	0.478			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																		uc003des.2		NA		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.e28+1		polybromo 1 isoform 4							84.0	78.0	80.0					3																	52584762		2203	4300	6503	SO:0001630	splice_region_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52584762C>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4680+1G>T	3.37:g.52584762C>A						PBRM1_uc003dex.2_Splice_Site|PBRM1_uc003deq.2_Splice_Site_p.Q1453_splice|PBRM1_uc003der.2_Splice_Site_p.Q1473_splice|PBRM1_uc003det.2_Splice_Site_p.Q1468_splice|PBRM1_uc003deu.2_Splice_Site_p.Q1523_splice|PBRM1_uc003dev.2_Splice_Site|PBRM1_uc003dew.2_Splice_Site_p.Q1505_splice|PBRM1_uc010hmk.1_Splice_Site_p.Q1480_splice|PBRM1_uc003dey.2_Splice_Site_p.Q1453_splice	p.Q1560_splice	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	28	4692	-								A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37	c.4680_splice		.	.	.	.	.	.	.	.	.	.	C	23.5	4.422040	0.83559	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5099	0.87757	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52559802	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.076000	0.71267	2.826000	0.97356	0.655000	0.94253	.		0.478	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	19	23	1	0	2.94398e-08	0.043863	3.63983e-08	19	23				
SYNPR	132204	broad.mit.edu	37	3	63429126	63429126	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr3:63429126G>T	ENST00000295894.5	+	1	374	c.5G>T	c.(4-6)tGt>tTt	p.C2F	SYNPR_ENST00000478300.1_Intron|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000479198.1_Missense_Mutation_p.C2F|SYNPR_ENST00000460711.1_Missense_Mutation_p.C2F|SYNPR-AS1_ENST00000488201.1_RNA|SYNPR_ENST00000465156.1_Missense_Mutation_p.C2F	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	2	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TTGTAAATGTGTATGGTGATA	0.403																																					NSCLC(29;1052 1116 20025 32519)	NSCLC(29;1052 1116 20025 32519)	uc003dlq.2		NA																	0					0						c.(4-6)TGT>TTT		synaptoporin isoform 2							214.0	194.0	201.0					3																	63429126		1895	4111	6006	SO:0001583	missense	132204					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity	g.chr3:63429126G>T	AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.5G>T	3.37:g.63429126G>T	ENSP00000295894:p.Cys2Phe					SYNPR_uc003dlp.2_Intron|SYNPR_uc011bfk.1_Intron|SYNPR_uc011bfl.1_Intron|SYNPR_uc010hnt.2_5'UTR|SYNPR_uc011bfm.1_RNA	p.C2F	NM_144642	NP_653243	Q8TBG9	SYNPR_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)	1	374	+			2			Cytoplasmic (Potential).|MARVEL.		B2R675|G5E9W4	Missense_Mutation	SNP	ENST00000295894.5	37	c.5G>T	CCDS46860.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404818	0.42613	.	.	ENSG00000163630	ENST00000295894;ENST00000479198;ENST00000460711;ENST00000465156	T;T;T;T	0.47869	1.69;1.15;1.94;0.83	5.65	5.65	0.86999	Marvel (1);	.	.	.	.	T	0.49830	0.1580	N	0.04355	-0.22	0.48511	D	0.999665	D	0.62365	0.991	D	0.77557	0.99	T	0.63769	-0.6562	9	0.72032	D	0.01	.	18.7125	0.91662	0.0:0.0:1.0:0.0	.	2	Q8TBG9	SYNPR_HUMAN	F	2	ENSP00000295894:C2F;ENSP00000418929:C2F;ENSP00000418701:C2F;ENSP00000418123:C2F	ENSP00000295894:C2F	C	+	2	0	SYNPR	63404166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.155000	0.77445	2.647000	0.89833	0.655000	0.94253	TGT		0.403	SYNPR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351787.1			6	11	1	0	2.0095e-06	0.02938	2.3425e-06	6	11				
PSMD6	9861	broad.mit.edu	37	3	64004295	64004295	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr3:64004295G>A	ENST00000295901.4	-	5	946	c.806C>T	c.(805-807)tCt>tTt	p.S269F	PSMD6_ENST00000394431.2_Missense_Mutation_p.S231F|PSMD6_ENST00000482510.1_Missense_Mutation_p.S230F|RP11-245J9.4_ENST00000462717.1_RNA|RP11-245J9.6_ENST00000605919.1_RNA|PSMD6_ENST00000492933.1_Missense_Mutation_p.S322F	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	269	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		GAAGAAAACAGAGTAACGGCA	0.373																																							uc003dma.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(805-807)TCT>TTT		proteasome (prosome, macropain) 26S subunit,							81.0	75.0	77.0					3																	64004295		2203	4299	6502	SO:0001583	missense	9861				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding	g.chr3:64004295G>A	AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.806C>T	3.37:g.64004295G>A	ENSP00000295901:p.Ser269Phe					PSMD6_uc003dlz.1_Missense_Mutation_p.S220F|PSMD6_uc003dmb.1_Missense_Mutation_p.S322F|PSMD6_uc003dmc.1_Missense_Mutation_p.S230F|PSMD6_uc003dmd.1_Missense_Mutation_p.S231F	p.S269F	NM_014814	NP_055629	Q15008	PSMD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)	5	831	-		Lung NSC(201;0.136)	269			PCI.		A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	ENST00000295901.4	37	c.806C>T	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033691	0.75504	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.94	5.94	0.96194	Proteasome component (PCI) domain (1);	0.179095	0.51477	D	0.000098	T	0.49218	0.1544	M	0.64404	1.975	0.58432	D	0.999991	B;B;P;B	0.38617	0.406;0.251;0.64;0.093	B;B;P;B	0.47891	0.369;0.337;0.56;0.315	T	0.45716	-0.9242	10	0.66056	D	0.02	.	15.8014	0.78456	0.0:0.1353:0.8647:0.0	.	231;230;322;269	Q6UV22;E9PHI9;C9IZE4;Q15008	.;.;.;PSMD6_HUMAN	F	269;322;231;230	ENSP00000295901:S269F;ENSP00000418695:S322F;ENSP00000377952:S231F;ENSP00000419227:S230F	ENSP00000295901:S269F	S	-	2	0	PSMD6	63979335	1.000000	0.71417	0.871000	0.34182	0.732000	0.41865	7.884000	0.87274	2.826000	0.97356	0.561000	0.74099	TCT		0.373	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814		12	25	0	0	0	0.016723	0	12	25				
ABI3BP	25890	broad.mit.edu	37	3	100567717	100567717	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr3:100567717G>T	ENST00000284322.5	-	16	1487	c.1378C>A	c.(1378-1380)Ccc>Acc	p.P460T	ABI3BP_ENST00000383691.4_5'Flank|ABI3BP_ENST00000495063.1_Missense_Mutation_p.P509T|ABI3BP_ENST00000471714.1_Missense_Mutation_p.P509T	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	460	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTTTGCTGGGGAGCTGAAAGA	0.403																																							uc003dun.2		NA																	0				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1378-1380)CCC>ACC		ABI gene family, member 3 (NESH) binding protein							134.0	132.0	133.0					3																	100567717		1819	4084	5903	SO:0001583	missense	25890					extracellular space		g.chr3:100567717G>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1378C>A	3.37:g.100567717G>T	ENSP00000284322:p.Pro460Thr					ABI3BP_uc003duo.2_Missense_Mutation_p.P502T|ABI3BP_uc011bhd.1_5'Flank|ABI3BP_uc003dum.2_5'Flank	p.P460T	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			16	1463	-			460			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.1378C>A	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738137	0.69304	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063	T;T;T	0.57595	0.39;0.39;0.39	5.86	0.873	0.19118	.	0.361708	0.28533	N	0.015016	T	0.33904	0.0879	L	0.28556	0.865	0.80722	D	1	B;B	0.29590	0.25;0.1	B;B	0.26094	0.066;0.054	T	0.05599	-1.0875	10	0.37606	T	0.19	-1.1557	7.2291	0.26033	0.0644:0.3362:0.4839:0.1155	.	509;460	Q5JPC9;Q7Z7G0	.;TARSH_HUMAN	T	509;460;509	ENSP00000420524:P509T;ENSP00000284322:P460T;ENSP00000433993:P509T	ENSP00000284322:P460T	P	-	1	0	ABI3BP	102050407	1.000000	0.71417	0.970000	0.41538	0.981000	0.71138	1.036000	0.30228	0.163000	0.19507	0.650000	0.86243	CCC		0.403	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			12	46	1	0	3.07112e-06	0.010729	3.53959e-06	12	46				
POLQ	10721	broad.mit.edu	37	3	121208648	121208648	+	Missense_Mutation	SNP	G	G	A	rs201749749		TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr3:121208648G>A	ENST00000264233.5	-	16	3258	c.3130C>T	c.(3130-3132)Cgt>Tgt	p.R1044C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1044					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGCTTTCTACGTTTCCAAGAT	0.398								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0	0.0	5008	,	,		18021	0.001		0.0	False		,,,				2504	0.0				Pancreas(152;907 1925 26081 31236 36904)	Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(3130-3132)CGT>TGT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							64.0	71.0	68.0					3																	121208648		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208648G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3130C>T	3.37:g.121208648G>A	ENSP00000264233:p.Arg1044Cys					POLQ_uc003eed.2_Missense_Mutation_p.R216C	p.R1044C	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3259	-			1044					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.3130C>T	CCDS33833.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.555	0.470696	0.12461	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.50277	0.75	4.87	1.86	0.25419	.	1.514540	0.03805	N	0.265029	T	0.29061	0.0722	N	0.08118	0	0.09310	N	1	P;D	0.54964	0.876;0.969	B;B	0.43123	0.118;0.409	T	0.15263	-1.0443	10	0.59425	D	0.04	.	2.6172	0.04907	0.0969:0.1418:0.3787:0.3827	.	1044;216	O75417;O75417-2	DPOLQ_HUMAN;.	C	667;1044;1180	ENSP00000264233:R1044C	ENSP00000264233:R1044C	R	-	1	0	POLQ	122691338	0.008000	0.16893	0.003000	0.11579	0.127000	0.20565	0.879000	0.28146	0.183000	0.20059	0.563000	0.77884	CGT		0.398	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		5	123	0	0	0	0.014758	0	5	123				
ATP13A4	84239	broad.mit.edu	37	3	193210752	193210752	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr3:193210752G>T	ENST00000342695.4	-	5	809	c.487C>A	c.(487-489)Cat>Aat	p.H163N	ATP13A4_ENST00000392443.3_Missense_Mutation_p.H163N|ATP13A4_ENST00000295548.3_Missense_Mutation_p.H163N	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	163						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AATTTTTGATGTATCTTGGCA	0.308																																							uc003ftd.2		NA																	0				ovary(2)	2						c.(487-489)CAT>AAT		ATPase type 13A4							158.0	151.0	154.0					3																	193210752		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193210752G>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.487C>A	3.37:g.193210752G>T	ENSP00000339182:p.His163Asn					ATP13A4_uc003fte.1_Missense_Mutation_p.H163N|ATP13A4_uc011bsr.1_5'UTR	p.H163N	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	5	595	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		163			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.487C>A	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101357	0.76983	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;T	0.77489	-1.1;-1.1;-1.1	5.46	5.46	0.80206	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.64402	D	0.000011	D	0.89818	0.6825	M	0.88105	2.93	0.45690	D	0.998602	D;D	0.89917	0.999;1.0	D;D	0.78314	0.984;0.991	D	0.90145	0.4216	10	0.45353	T	0.12	-15.1953	17.8815	0.88842	0.0:0.0:1.0:0.0	.	163;163	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	N	163	ENSP00000376238:H163N;ENSP00000339182:H163N;ENSP00000295548:H163N	ENSP00000295548:H163N	H	-	1	0	ATP13A4	194693446	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.255000	0.72466	2.577000	0.86979	0.467000	0.42956	CAT		0.308	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		7	38	1	0	8.12818e-05	0.02938	9.01168e-05	7	38				
UGT2B4	7363	broad.mit.edu	37	4	70351130	70351130	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr4:70351130C>A	ENST00000305107.6	-	5	1152	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	UGT2B4_ENST00000512583.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.R233I|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	369					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TATAAAAGCTCTGGTTTTTGG	0.398																																							uc003hek.3		NA																	0				skin(2)	2						c.(1105-1107)AGA>ATA		UDP glucuronosyltransferase 2B4 precursor							107.0	112.0	110.0					4																	70351130		2203	4297	6500	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70351130C>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1106G>T	4.37:g.70351130C>A	ENSP00000305221:p.Arg369Ile					UGT2B4_uc011cap.1_Missense_Mutation_p.R233I|UGT2B4_uc003hel.3_Intron	p.R369I	NM_021139	NP_066962	P06133	UD2B4_HUMAN			5	1153	-			369					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1106G>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364332	0.24684	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.62941	-0.01;3.2	1.96	0.404	0.16355	.	0.151550	0.42053	U	0.000764	T	0.70518	0.3233	M	0.75615	2.305	0.34634	D	0.719972	B;D	0.61697	0.177;0.99	B;D	0.65010	0.23;0.931	T	0.73786	-0.3873	10	0.87932	D	0	.	5.3327	0.15942	0.0:0.1694:0.0:0.8306	.	233;369	A6NCP7;P06133	.;UD2B4_HUMAN	I	369;233	ENSP00000305221:R369I;ENSP00000370486:R233I	ENSP00000305221:R369I	R	-	2	0	UGT2B4	70385719	0.002000	0.14202	0.992000	0.48379	0.155000	0.21991	0.609000	0.24238	0.202000	0.20498	-0.680000	0.03767	AGA		0.398	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		50	155	1	0	2.55665e-31	0.048971	4.10674e-31	50	155				
HNRNPD	3184	broad.mit.edu	37	4	83279893	83279893	+	Silent	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr4:83279893C>A	ENST00000313899.7	-	4	817	c.540G>T	c.(538-540)ccG>ccT	p.P180P	HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000541060.1_Silent_p.P26P|HNRNPD_ENST00000352301.4_Silent_p.P161P|HNRNPD_ENST00000543098.1_Silent_p.P128P|HNRNPD_ENST00000353341.4_Silent_p.P180P	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	180					circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TTTTTTTAACCGGCTCTTTTG	0.363																																							uc003hmm.1		NA																	0					0						c.(538-540)CCG>CCT		heterogeneous nuclear ribonucleoprotein D							68.0	71.0	70.0					4																	83279893		2203	4300	6503	SO:0001819	synonymous_variant	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83279893C>A	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.540G>T	4.37:g.83279893C>A						HNRNPD_uc003hml.1_RNA|HNRNPD_uc003hmn.1_Silent_p.P161P|HNRNPD_uc003hmo.1_Silent_p.P180P|HNRNPD_uc003hmp.1_Silent_p.P161P|HNRNPD_uc010ijr.1_Silent_p.P161P|HNRNPD_uc011cci.1_Silent_p.P26P	p.P180P	NM_031370	NP_112738	Q14103	HNRPD_HUMAN			4	858	-			180					A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Silent	SNP	ENST00000313899.7	37	c.540G>T	CCDS3592.1	.	.	.	.	.	.	.	.	.	.	C	8.021	0.759638	0.15846	.	.	ENSG00000138668	ENST00000514671	.	.	.	5.76	0.573	0.17363	.	.	.	.	.	T	0.43055	0.1230	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20107	-1.0285	4	.	.	.	.	2.6884	0.05114	0.5183:0.1289:0.2556:0.0971	.	.	.	.	C	84	.	.	G	-	1	0	HNRNPD	83498917	0.859000	0.29813	0.998000	0.56505	0.864000	0.49448	0.061000	0.14366	-0.052000	0.13311	-0.182000	0.12963	GGT		0.363	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		26	57	1	0	9.90768e-06	0.024334	1.12914e-05	26	57				
ADAMTS12	81792	broad.mit.edu	37	5	33624444	33624444	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr5:33624444C>T	ENST00000504830.1	-	14	2370	c.2035G>A	c.(2035-2037)Gac>Aac	p.D679N	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	679	Cys-rich.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATCTCATAGTCACAGCCAACC	0.542										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2035-2037)GAC>AAC		ADAM metallopeptidase with thrombospondin type 1							102.0	74.0	84.0					5																	33624444		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33624444C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2035G>A	5.37:g.33624444C>T	ENSP00000422554:p.Asp679Asn	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Intron	p.D679N	NM_030955	NP_112217	P58397	ATS12_HUMAN			14	2198	-			679			Cys-rich.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2035G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675668	0.96764	.	.	ENSG00000151388	ENST00000504830	T	0.73575	-0.76	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.89949	0.6863	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90867	0.4743	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	679	P58397	ATS12_HUMAN	N	679	ENSP00000422554:D679N	ENSP00000422554:D679N	D	-	1	0	ADAMTS12	33660201	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.699000	0.84547	2.941000	0.99782	0.655000	0.94253	GAC		0.542	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		29	36	0	0	0	0.030593	0	29	36				
SLC45A2	51151	broad.mit.edu	37	5	33951714	33951714	+	Silent	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr5:33951714G>T	ENST00000296589.4	-	5	1247	c.1101C>A	c.(1099-1101)gtC>gtA	p.V367V	SLC45A2_ENST00000342059.3_Silent_p.V308V|SLC45A2_ENST00000509381.1_3'UTR|SLC45A2_ENST00000382102.3_Silent_p.V367V|SLC45A2_ENST00000345083.5_Silent_p.V259V	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	367					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ATCCAACCTCGACTCCTCTTT	0.453																																					Ovarian(31;380 859 8490 22203 49048)	Ovarian(31;380 859 8490 22203 49048)	uc003jid.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1099-1101)GTC>GTA		membrane-associated transporter protein isoform							171.0	148.0	156.0					5																	33951714		2203	4300	6503	SO:0001819	synonymous_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33951714G>T	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1101C>A	5.37:g.33951714G>T						SLC45A2_uc003jie.2_Silent_p.V367V|SLC45A2_uc003jif.3_3'UTR|SLC45A2_uc011coe.1_3'UTR	p.V367V	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			5	1193	-			367			Helical; Name=8; (Potential).		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.1101C>A	CCDS3901.1																																																																																				0.453	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		63	111	1	0	3.00063e-23	0.048971	4.53428e-23	63	111				
NNT	23530	broad.mit.edu	37	5	43616166	43616166	+	Splice_Site	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr5:43616166G>T	ENST00000264663.5	+	4	819	c.598G>T	c.(598-600)Ggt>Tgt	p.G200C	NNT_ENST00000512996.2_Splice_Site_p.G69C|NNT_ENST00000344920.4_Splice_Site_p.G200C	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	200					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CAACATTGCGGGGTAGGTTCT	0.413																																							uc003joe.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(598-600)GGT>TGT		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						84.0	85.0	85.0					5																	43616166		2203	4300	6503	SO:0001630	splice_region_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43616166G>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.599+1G>T	5.37:g.43616166G>T						NNT_uc003jof.2_Missense_Mutation_p.G200C	p.G200C	NM_012343	NP_036475	Q13423	NNTM_HUMAN			4	853	+	Lung NSC(6;2.58e-06)		200			Mitochondrial matrix.		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.598G>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	34	5.321043	0.95682	.	.	ENSG00000112992	ENST00000512422;ENST00000264663;ENST00000344920;ENST00000512996	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	5.66	5.66	0.87406	.	0.046050	0.85682	D	0.000000	D	0.92675	0.7672	M	0.93507	3.425	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.93885	0.7174	9	.	.	.	-8.6574	19.7973	0.96491	0.0:0.0:1.0:0.0	.	200	Q13423	NNTM_HUMAN	C	200;200;200;69	ENSP00000421886:G200C;ENSP00000264663:G200C;ENSP00000343873:G200C;ENSP00000426343:G69C	.	G	+	1	0	NNT	43651923	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	9.589000	0.98235	2.673000	0.90976	0.650000	0.86243	GGT		0.413	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977	Missense_Mutation	27	72	1	0	4.87955e-14	0.027356	6.72587e-14	27	72				
IL31RA	133396	broad.mit.edu	37	5	55164699	55164699	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr5:55164699G>A	ENST00000447346.2	+	3	300	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	IL31RA_ENST00000297015.3_Intron|IL31RA_ENST00000396834.1_Missense_Mutation_p.E60K|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000354961.4_Missense_Mutation_p.E60K|IL31RA_ENST00000396836.2_Missense_Mutation_p.E79K|IL31RA_ENST00000359040.5_Missense_Mutation_p.E79K	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	47	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TCCAGGAAAGGAAACCAGTTA	0.418																																							uc003jql.2		NA																	0				ovary(1)	1						c.(235-237)GAA>AAA		gp130-like monocyte receptor							107.0	110.0	109.0					5																	55164699		2203	4300	6503	SO:0001583	missense	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55164699G>A	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.235G>A	5.37:g.55164699G>A	ENSP00000415900:p.Glu79Lys					IL31RA_uc003jqk.2_Missense_Mutation_p.E79K|IL31RA_uc011cqj.1_Intron|IL31RA_uc003jqm.2_Missense_Mutation_p.E47K|IL31RA_uc003jqn.2_Missense_Mutation_p.E79K|IL31RA_uc010iwa.1_Missense_Mutation_p.E47K|IL31RA_uc003jqo.2_5'UTR	p.E79K	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN			3	300	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	47			Extracellular (Potential).|Fibronectin type-III 1.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	c.235G>A	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943729	0.34283	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000354961	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	3.92	3.04	0.35103	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.481828	0.20895	N	0.083746	D	0.89622	0.6768	M	0.82716	2.605	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.995;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.998;0.909;0.998;0.998	D	0.88398	0.3013	10	0.62326	D	0.03	-10.3356	7.5196	0.27620	0.1191:0.0:0.8809:0.0	.	47;79;60;79;79	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	K	79;60;79;79;60	ENSP00000380048:E79K;ENSP00000380046:E60K;ENSP00000415900:E79K;ENSP00000351935:E79K;ENSP00000347047:E60K	ENSP00000347047:E60K	E	+	1	0	IL31RA	55200456	0.889000	0.30405	0.425000	0.26659	0.018000	0.09664	2.169000	0.42434	0.993000	0.38866	-0.136000	0.14681	GAA		0.418	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		41	124	0	0	0	0.027894	0	41	124				
H2AFY	9555	broad.mit.edu	37	5	134679002	134679002	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr5:134679002C>A	ENST00000511689.1	-	8	1494	c.901G>T	c.(901-903)Gct>Tct	p.A301S	H2AFY_ENST00000312469.4_Missense_Mutation_p.A298S|H2AFY_ENST00000304332.4_Missense_Mutation_p.A300S|H2AFY_ENST00000423969.2_Missense_Mutation_p.A129S|CTC-349C3.1_ENST00000432382.3_Missense_Mutation_p.A95D|H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000510038.1_Missense_Mutation_p.A301S	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	301	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTATCATCAGCCAGGGCCAAG	0.498																																							uc003lam.1		NA																	0					0						c.(901-903)GCT>TCT		H2A histone family, member Y isoform 3							183.0	171.0	175.0					5																	134679002		2203	4300	6503	SO:0001583	missense	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134679002C>A	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.901G>T	5.37:g.134679002C>A	ENSP00000423563:p.Ala301Ser					uc003laj.1_RNA|H2AFY_uc003lal.1_RNA|H2AFY_uc003lao.1_Missense_Mutation_p.A300S|H2AFY_uc003lan.1_Missense_Mutation_p.A298S|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.A129S|H2AFY_uc003las.1_Missense_Mutation_p.A301S|H2AFY_uc003lat.1_Missense_Mutation_p.A300S	p.A301S	NM_138610	NP_613258	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		8	1111	-			301			Macro.		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Missense_Mutation	SNP	ENST00000511689.1	37	c.901G>T	CCDS4185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.418002|5.418002	0.96092|0.96092	.|.	.|.	ENSG00000224186|ENSG00000113648	ENST00000432382|ENST00000511689;ENST00000304332;ENST00000312469;ENST00000423969;ENST00000510038	.|T;T;T;T;T	.|0.28454	.|1.61;1.61;1.61;1.61;1.61	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Appr-1-p processing (3);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.68504|0.68504	0.3008|0.3008	M|M	0.93763|0.93763	3.455|3.455	0.80722|0.80722	D|D	1|1	.|P;D;P;D	.|0.76494	.|0.91;0.999;0.926;0.999	.|D;D;D;D	.|0.91635	.|0.945;0.999;0.974;0.999	T|T	0.76658|0.76658	-0.2878|-0.2878	7|10	0.87932|0.87932	D|D	0|0	.|.	19.9421|19.9421	0.97168|0.97168	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|129;300;298;301	.|B4DJC3;O75367-3;O75367-2;O75367	.|.;.;.;H2AY_HUMAN	D|S	95|301;300;298;129;301	.|ENSP00000423563:A301S;ENSP00000302572:A300S;ENSP00000310169:A298S;ENSP00000415121:A129S;ENSP00000424971:A301S	ENSP00000402151:A95D|ENSP00000302572:A300S	A|A	+|-	2|1	0|0	CTC-203F4.1|H2AFY	134706901|134706901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.757000|7.757000	0.85209|0.85209	2.714000|2.714000	0.92807|0.92807	0.561000|0.561000	0.74099|0.74099	GCC|GCT		0.498	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		70	89	1	0	5.45122e-27	0.048971	8.62054e-27	70	89				
PCDHA10	56139	broad.mit.edu	37	5	140236822	140236822	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr5:140236822G>T	ENST00000307360.5	+	1	1189	c.1189G>T	c.(1189-1191)Gtg>Ttg	p.V397L	PCDHA10_ENST00000506939.2_Missense_Mutation_p.V397L|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCAAGCTGGTGTCCACCTA	0.592																																							uc003lhx.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(1189-1191)GTG>TTG		protocadherin alpha 10 isoform 1 precursor							147.0	130.0	136.0					5																	140236822		2197	4273	6470	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140236822G>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1189G>T	5.37:g.140236822G>T	ENSP00000304234:p.Val397Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.V397L|PCDHA10_uc011dad.1_Missense_Mutation_p.V397L	p.V397L	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1189	+			397			Cadherin 4.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1189G>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	8.369	0.834866	0.16820	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.48522	0.81;0.81	4.0	2.12	0.27331	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29355	0.0731	N	0.13327	0.33	0.20196	N	0.999927	B;B;B	0.21147	0.042;0.052;0.019	B;B;B	0.24848	0.056;0.044;0.037	T	0.23332	-1.0191	9	0.33940	T	0.23	.	7.8315	0.29344	0.0868:0.347:0.5662:0.0	.	397;397;397	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	L	397	ENSP00000421030:V397L;ENSP00000304234:V397L	ENSP00000304234:V397L	V	+	1	0	PCDHA10	140217006	0.000000	0.05858	1.000000	0.80357	0.839000	0.47603	-1.494000	0.02296	0.402000	0.25451	0.561000	0.74099	GTG		0.592	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		50	212	1	0	4.02871e-13	0.048971	5.44276e-13	50	212				
PCDHB14	56122	broad.mit.edu	37	5	140604499	140604499	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr5:140604499C>G	ENST00000239449.4	+	1	1422	c.1422C>G	c.(1420-1422)agC>agG	p.S474R	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S321R	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	474	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGCGTCAGCGCCACAGACA	0.637																																					Ovarian(141;50 1831 27899 33809 37648)	Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NA																	0				ovary(1)	1						c.(1420-1422)AGC>AGG		protocadherin beta 14 precursor							102.0	108.0	106.0					5																	140604499		2203	4298	6501	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604499C>G	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1422C>G	5.37:g.140604499C>G	ENSP00000239449:p.Ser474Arg					PCDHB14_uc011dal.1_Missense_Mutation_p.S321R	p.S474R	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1422	+			474			Extracellular (Potential).|Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1422C>G	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	12.45	1.942241	0.34283	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01838	4.61;4.61	4.34	2.03	0.26663	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02342	0.0072	L	0.31157	0.91	0.25060	N	0.991076	P	0.36392	0.551	B	0.41510	0.359	T	0.45991	-0.9223	9	0.45353	T	0.12	.	2.952	0.05865	0.0:0.323:0.231:0.446	.	474	Q9Y5E9	PCDBE_HUMAN	R	321;474	ENSP00000444518:S321R;ENSP00000239449:S474R	ENSP00000239449:S474R	S	+	3	2	PCDHB14	140584683	0.000000	0.05858	1.000000	0.80357	0.948000	0.59901	-0.605000	0.05661	0.944000	0.37579	0.556000	0.70494	AGC		0.637	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		99	194	0	0	0	0.048971	0	99	194				
PCDHGA5	56110	broad.mit.edu	37	5	140746158	140746158	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr5:140746158C>A	ENST00000518069.1	+	1	2261	c.2261C>A	c.(2260-2262)tCc>tAc	p.S754Y	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	754					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACCTATTCCCACGAGGTC	0.597																																							uc003lju.1		NA																	0		p.S754A(1)		ovary(4)	4						c.(2260-2262)TCC>TAC		protocadherin gamma subfamily A, 5 isoform 1							103.0	112.0	109.0					5																	140746158		2203	4300	6503	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140746158C>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2261C>A	5.37:g.140746158C>A	ENSP00000429834:p.Ser754Tyr					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_uc011das.1_Missense_Mutation_p.S754Y	p.S754Y	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2261	+			754			Cytoplasmic (Potential).		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.2261C>A	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	16.62	3.175315	0.57692	.	.	ENSG00000253485	ENST00000518069	T	0.49139	0.79	5.17	5.17	0.71159	.	.	.	.	.	T	0.71005	0.3289	M	0.87547	2.89	0.23519	N	0.997506	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.63959	-0.6519	9	0.54805	T	0.06	.	11.0326	0.47783	0.1415:0.7213:0.1371:0.0	.	754;754	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	Y	754	ENSP00000429834:S754Y	ENSP00000429834:S754Y	S	+	2	0	PCDHGA5	140726342	0.772000	0.28567	0.999000	0.59377	0.920000	0.55202	1.473000	0.35387	2.562000	0.86427	0.563000	0.77884	TCC		0.597	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		50	187	1	0	5.57489e-27	0.048971	8.74829e-27	50	187				
PDGFRB	5159	broad.mit.edu	37	5	149515374	149515374	+	Silent	SNP	T	T	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr5:149515374T>A	ENST00000261799.4	-	3	577	c.108A>T	c.(106-108)acA>acT	p.T36T		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	36	Ig-like C2-type 1.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCCCCGGGGGTGTGACGACCA	0.592			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																		uc003lro.2		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		0				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(106-108)ACA>ACT		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						36.0	34.0	35.0					5																	149515374		2203	4300	6503	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149515374T>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.108A>T	5.37:g.149515374T>A						PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Silent_p.T36T	p.T36T	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	577	-		all_hematologic(541;0.224)	36			Extracellular (Potential).|Ig-like C2-type 1.		B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.108A>T	CCDS4303.1																																																																																				0.592	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		12	39	0	0	0	0.028581	0	12	39				
FAT2	2196	broad.mit.edu	37	5	150947209	150947209	+	Silent	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr5:150947209G>A	ENST00000261800.5	-	1	1296	c.1284C>T	c.(1282-1284)caC>caT	p.H428H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	428	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTAGCTGATAGTGGGCTCTGT	0.498																																							uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(1282-1284)CAC>CAT		FAT tumor suppressor 2 precursor							130.0	123.0	125.0					5																	150947209		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947209G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1284C>T	5.37:g.150947209G>A						GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.H428H	p.H428H	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1297	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	428			Extracellular (Potential).|Cadherin 3.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.1284C>T	CCDS4317.1																																																																																				0.498	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		39	124	0	0	0	0.021022	0	39	124				
NMUR2	56923	broad.mit.edu	37	5	151777686	151777686	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr5:151777686A>G	ENST00000255262.3	-	2	911	c.746T>C	c.(745-747)cTt>cCt	p.L249P	NMUR2_ENST00000518933.1_5'UTR	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	249					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ATCTGCCTCAAGAGATTTGTC	0.358																																							uc003luv.2		NA																	0				ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8						c.(745-747)CTT>CCT		neuromedin U receptor 2							123.0	116.0	119.0					5																	151777686		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151777686A>G	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.746T>C	5.37:g.151777686A>G	ENSP00000255262:p.Leu249Pro						p.L249P	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		2	912	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	249			Cytoplasmic (Potential).		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.746T>C	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.205650	0.39003	.	.	ENSG00000132911	ENST00000255262	T	0.71934	-0.61	5.8	5.8	0.92144	GPCR, rhodopsin-like superfamily (1);	0.100929	0.45361	D	0.000379	D	0.83018	0.5163	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.81978	-0.0685	10	0.30854	T	0.27	-13.4755	15.3423	0.74306	1.0:0.0:0.0:0.0	.	249	Q9GZQ4	NMUR2_HUMAN	P	249	ENSP00000255262:L249P	ENSP00000255262:L249P	L	-	2	0	NMUR2	151757879	1.000000	0.71417	0.338000	0.25549	0.033000	0.12548	4.226000	0.58606	2.213000	0.71641	0.477000	0.44152	CTT		0.358	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		27	54	0	0	0	0.024334	0	27	54				
ATP10B	23120	broad.mit.edu	37	5	160049472	160049472	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr5:160049472C>A	ENST00000327245.5	-	14	2587	c.1741G>T	c.(1741-1743)Gct>Tct	p.A581S	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	581					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGAAATCAGCAATGGAGGAG	0.557																																							uc003lym.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1741-1743)GCT>TCT		ATPase, class V, type 10B							78.0	82.0	81.0					5																	160049472		1999	4179	6178	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160049472C>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1741G>T	5.37:g.160049472C>A	ENSP00000313600:p.Ala581Ser					ATP10B_uc010jit.1_5'Flank|ATP10B_uc003lyn.2_Missense_Mutation_p.A139S	p.A581S	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	2588	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	581			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1741G>T	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451886	0.26074	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.81908	-1.55;-1.55	5.53	4.47	0.54385	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.317547	0.31976	N	0.006780	T	0.70570	0.3239	L	0.29908	0.895	0.09310	N	1	P;P	0.34462	0.454;0.454	B;B	0.34931	0.192;0.192	T	0.59747	-0.7396	9	.	.	.	.	7.0735	0.25191	0.0:0.7749:0.0:0.2251	.	189;581	Q2YDW8;O94823	.;AT10B_HUMAN	S	581;189	ENSP00000313600:A581S;ENSP00000431081:A189S	.	A	-	1	0	ATP10B	159982050	0.962000	0.33011	0.944000	0.38274	0.939000	0.58152	1.871000	0.39539	2.596000	0.87737	0.655000	0.94253	GCT		0.557	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		30	25	1	0	3.99451e-17	0.041601	5.69846e-17	30	25				
BTNL2	56244	broad.mit.edu	37	6	32374895	32374895	+	Silent	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr6:32374895C>T	ENST00000374993.1	-	1	5	c.6G>A	c.(4-6)gtG>gtA	p.V2V	BTNL2_ENST00000429232.2_Silent_p.V2V|BTNL2_ENST00000374995.3_Silent_p.V2V|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000454136.3_Silent_p.V2V|BTNL2_ENST00000540315.1_Silent_p.V2V|BTNL2_ENST00000414363.1_Silent_p.V2V	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	2						integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CTGGAAAATCCACCATCCTCC	0.507																																							uc003obg.1		NA																	0				central_nervous_system(1)	1						c.(4-6)GTG>GTA		butyrophilin-like 2							151.0	124.0	134.0					6																	32374895		1511	2709	4220	SO:0001819	synonymous_variant	56244					integral to membrane		g.chr6:32374895C>T	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.6G>A	6.37:g.32374895C>T						BTNL2_uc010jty.1_5'UTR|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Silent_p.V2V	p.V2V	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN			1	6	-			2			Cytoplasmic (Potential).		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	ENST00000374993.1	37	c.6G>A																																																																																					0.507	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		27	58	0	0	0	0.027356	0	27	58				
MAPK13	5603	broad.mit.edu	37	6	36104692	36104692	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr6:36104692T>C	ENST00000211287.4	+	8	909	c.647T>C	c.(646-648)aTg>aCg	p.M216T	MAPK13_ENST00000373766.5_Intron|MAPK13_ENST00000373761.6_Missense_Mutation_p.M206T|MAPK13_ENST00000373759.1_Intron	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	216	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						ATGGCAGAGATGCTGACAGGG	0.507																																							uc003ols.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(646-648)ATG>ACG		mitogen-activated protein kinase 13							112.0	111.0	111.0					6																	36104692		2203	4300	6503	SO:0001583	missense	5603				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding	g.chr6:36104692T>C	Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.647T>C	6.37:g.36104692T>C	ENSP00000211287:p.Met216Thr					MAPK13_uc003olt.2_Intron	p.M216T	NM_002754	NP_002745	O15264	MK13_HUMAN			8	745	+			216			Protein kinase.		O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	ENST00000211287.4	37	c.647T>C	CCDS4818.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.236452	0.79800	.	.	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770	T;T	0.53206	0.63;0.63	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.63850	0.2546	M	0.87180	2.865	0.80722	D	1	D	0.56746	0.977	D	0.63957	0.92	T	0.71300	-0.4634	10	0.56958	D	0.05	-41.0944	14.6244	0.68611	0.0:0.0:0.0:1.0	.	216	O15264	MK13_HUMAN	T	206;216;216	ENSP00000362866:M206T;ENSP00000211287:M216T	ENSP00000211287:M216T	M	+	2	0	MAPK13	36212670	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.959000	0.87885	1.866000	0.54105	0.459000	0.35465	ATG		0.507	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1			22	60	0	0	0	0.014323	0	22	60				
CRISP3	10321	broad.mit.edu	37	6	49704130	49704130	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr6:49704130G>T	ENST00000393666.1	-	2	169	c.163C>A	c.(163-165)Ccc>Acc	p.P55T	CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000263045.4_Missense_Mutation_p.P68T|CRISP3_ENST00000371159.4_Missense_Mutation_p.P86T|CRISP3_ENST00000433368.2_Missense_Mutation_p.P78T			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	55	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTGGCAGGGGGAGATACTGCT	0.468																																							uc003ozs.2		NA																	0				skin(2)	2						c.(163-165)CCC>ACC		cysteine-rich secretory protein 3 precursor							194.0	172.0	180.0					6																	49704130		2203	4300	6503	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49704130G>T	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.163C>A	6.37:g.49704130G>T	ENSP00000377274:p.Pro55Thr						p.P55T	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		3	178	-	Lung NSC(77;0.0161)		55					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.163C>A		.	.	.	.	.	.	.	.	.	.	G	12.82	2.053953	0.36277	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000371159;ENST00000354620	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	4.9	4.03	0.46877	CAP domain (3);	0.000000	0.64402	U	0.000004	T	0.37758	0.1015	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52193	-0.8608	10	0.87932	D	0	.	9.3694	0.38246	0.1013:0.0:0.8987:0.0	.	55	P54108	CRIS3_HUMAN	T	68;78;55;86;78	ENSP00000263045:P68T;ENSP00000389026:P78T;ENSP00000377274:P55T;ENSP00000360201:P86T;ENSP00000346636:P78T	ENSP00000263045:P68T	P	-	1	0	CRISP3	49812089	1.000000	0.71417	0.147000	0.22382	0.276000	0.26787	5.876000	0.69667	1.190000	0.43042	0.561000	0.74099	CCC		0.468	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		50	117	1	0	2.81731e-22	0.048971	4.19511e-22	50	117				
GLI3	2737	broad.mit.edu	37	7	42063167	42063167	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr7:42063167T>C	ENST00000395925.3	-	10	1481	c.1397A>G	c.(1396-1398)gAc>gGc	p.D466G	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	466					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTCATCTTTGTCCCCTTCCTC	0.542									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																														uc011kbh.1		NA																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(1396-1398)GAC>GGC		GLI-Kruppel family member GLI3							159.0	122.0	134.0					7																	42063167		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42063167T>C		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1397A>G	7.37:g.42063167T>C	ENSP00000379258:p.Asp466Gly					GLI3_uc011kbg.1_Missense_Mutation_p.D407G	p.D466G	NM_000168	NP_000159	P10071	GLI3_HUMAN			10	1488	-			466					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1397A>G	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	T	18.06	3.539910	0.65085	.	.	ENSG00000106571	ENST00000395925	T	0.68765	-0.35	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.68593	2.085	0.80722	D	1	B	0.20671	0.047	B	0.24848	0.056	T	0.66060	-0.6017	10	0.56958	D	0.05	.	16.1773	0.81862	0.0:0.0:0.0:1.0	.	466	P10071	GLI3_HUMAN	G	466	ENSP00000379258:D466G	ENSP00000379258:D466G	D	-	2	0	GLI3	42029692	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.040000	0.89188	2.217000	0.71921	0.482000	0.46254	GAC		0.542	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		15	68	0	0	0	0.020292	0	15	68				
GRB10	2887	broad.mit.edu	37	7	50694650	50694650	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr7:50694650C>T	ENST00000401949.1	-	8	999	c.530G>A	c.(529-531)gGg>gAg	p.G177E	GRB10_ENST00000407526.1_Missense_Mutation_p.G119E|GRB10_ENST00000335866.3_Missense_Mutation_p.G119E|GRB10_ENST00000406641.1_Missense_Mutation_p.G119E|GRB10_ENST00000402497.1_Missense_Mutation_p.G119E|GRB10_ENST00000402578.1_Missense_Mutation_p.G119E|GRB10_ENST00000403097.1_Missense_Mutation_p.G171E|GRB10_ENST00000357271.5_Missense_Mutation_p.G177E|GRB10_ENST00000398812.2_Missense_Mutation_p.G177E|GRB10_ENST00000398810.2_Missense_Mutation_p.G119E|GRB10_ENST00000439599.1_Missense_Mutation_p.G171E			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	177	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TTTGCTTGTCCCATCTTCACT	0.413									Russell-Silver syndrome																														uc003tpi.2		NA																	0				lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(529-531)GGG>GAG		growth factor receptor-bound protein 10 isoform							262.0	257.0	259.0					7																	50694650		1972	4166	6138	SO:0001583	missense	2887	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50694650C>T		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.530G>A	7.37:g.50694650C>T	ENSP00000385770:p.Gly177Glu					GRB10_uc003tph.3_Missense_Mutation_p.G119E|GRB10_uc003tpj.2_Missense_Mutation_p.G177E|GRB10_uc003tpk.2_Missense_Mutation_p.G177E|GRB10_uc010kzb.2_Missense_Mutation_p.G119E|GRB10_uc003tpl.2_Missense_Mutation_p.G171E|GRB10_uc003tpm.2_Missense_Mutation_p.G119E|GRB10_uc003tpn.2_Missense_Mutation_p.G119E	p.G177E	NM_005311	NP_005302	Q13322	GRB10_HUMAN			5	561	-	Glioma(55;0.08)|all_neural(89;0.245)		177			Ras-associating.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.530G>A	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761659	0.69763	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.46	4.58	0.56647	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.77903	0.4200	L	0.52905	1.665	0.80722	D	1	P;P;P	0.42375	0.726;0.778;0.613	B;P;P	0.46940	0.305;0.45;0.532	T	0.75516	-0.3290	10	0.30854	T	0.27	-34.9324	14.1753	0.65537	0.0:0.9282:0.0:0.0718	.	171;177;177	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	E	177;171;119;119;119;171;119;177;119;177;119	ENSP00000381793:G177E;ENSP00000406716:G171E;ENSP00000338543:G119E;ENSP00000381790:G119E;ENSP00000385189:G119E;ENSP00000385544:G171E;ENSP00000385366:G119E;ENSP00000349818:G177E;ENSP00000385046:G119E;ENSP00000385770:G177E;ENSP00000385748:G119E	ENSP00000338543:G119E	G	-	2	0	GRB10	50662144	1.000000	0.71417	0.941000	0.38009	0.991000	0.79684	7.818000	0.86416	1.311000	0.45024	0.655000	0.94253	GGG		0.413	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			60	181	0	0	0	0.048971	0	60	181				
SEMA3D	223117	broad.mit.edu	37	7	84629152	84629152	+	Silent	SNP	C	C	A	rs572313876		TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr7:84629152C>A	ENST00000284136.6	-	17	1981	c.1938G>T	c.(1936-1938)acG>acT	p.T646T	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	646	Ig-like C2-type.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GCCCATATTCCGTTTTGATGA	0.408																																					Ovarian(63;442 1191 17318 29975 31528)	Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NA																	0		p.T646M(1)		ovary(3)|large_intestine(2)	5						c.(1936-1938)ACG>ACT		semaphorin 3D precursor							51.0	47.0	49.0					7																	84629152		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84629152C>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1938G>T	7.37:g.84629152C>A						SEMA3D_uc010led.2_Silent_p.T646T|SEMA3D_uc003uib.2_Silent_p.T285T	p.T646T	NM_152754	NP_689967	O95025	SEM3D_HUMAN			17	1978	-			646			Ig-like C2-type.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.1938G>T	CCDS34676.1																																																																																				0.408	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		11	23	1	0	0.000978159	0.010729	0.00103929	11	23				
COL1A2	1278	broad.mit.edu	37	7	94053727	94053727	+	Missense_Mutation	SNP	G	G	A	rs140368271		TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr7:94053727G>A	ENST00000297268.6	+	41	3116	c.2645G>A	c.(2644-2646)cGt>cAt	p.R882H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	882					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)	AGAGGTGAACGTGGTCTACCA	0.478										HNSCC(75;0.22)																													uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2644-2646)CGT>CAT		alpha 2 type I collagen precursor	Collagenase(DB00048)	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	159.0	149.0	152.0		2645	5.7	1.0	7	dbSNP_134	152	0,8600		0,0,4300	no	missense	COL1A2	NM_000089.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	882/1367	94053727	1,13005	2203	4300	6503	SO:0001583	missense	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.chr7:94053727G>A	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.2645G>A	7.37:g.94053727G>A	ENSP00000297268:p.Arg882His	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_RNA	p.R882H	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		41	3116	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		882					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2645G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001102	0.74818	2.27E-4	0.0	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93763	-3.28	5.72	5.72	0.89469	.	0.056347	0.85682	D	0.000000	D	0.96275	0.8785	M	0.72353	2.195	0.58432	D	0.999999	D	0.69078	0.997	D	0.63597	0.916	D	0.95944	0.8949	10	0.66056	D	0.02	.	20.2626	0.98452	0.0:0.0:1.0:0.0	.	882	P08123	CO1A2_HUMAN	H	882;883	ENSP00000297268:R882H	ENSP00000297268:R882H	R	+	2	0	COL1A2	93891663	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.745000	0.85046	2.873000	0.98535	0.563000	0.77884	CGT		0.478	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		29	89	0	0	0	0.037714	0	29	89				
ARPC1B	10095	broad.mit.edu	37	7	98987630	98987630	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr7:98987630G>C	ENST00000451682.1	+	7	804	c.495G>C	c.(493-495)aaG>aaC	p.K165N	ARPC1B_ENST00000252725.5_Missense_Mutation_p.K165N|PDAP1_ENST00000496335.1_5'Flank			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	165					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GTGACTTCAAGTGTCGGTGAG	0.622																																							uc003upz.2		NA																	0					0						c.(493-495)AAG>AAC		actin related protein 2/3 complex subunit 1B							78.0	76.0	76.0					7																	98987630		2203	4300	6503	SO:0001583	missense	10095				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr7:98987630G>C	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.495G>C	7.37:g.98987630G>C	ENSP00000389631:p.Lys165Asn					ARPC1B_uc003uqa.2_Missense_Mutation_p.K165N|ARPC1B_uc003uqb.2_Missense_Mutation_p.K165N|ARPC1B_uc003uqc.2_Missense_Mutation_p.K165N|ARPC1B_uc003uqd.2_5'Flank	p.K165N	NM_005720	NP_005711	O15143	ARC1B_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	584	+	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		165			WD 4.		Q9BU00	Missense_Mutation	SNP	ENST00000451682.1	37	c.495G>C	CCDS5661.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173997	0.78452	.	.	ENSG00000130429	ENST00000252725;ENST00000451682	T;T	0.60299	0.2;0.2	5.69	4.82	0.62117	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77922	0.4203	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80603	-0.1309	10	0.52906	T	0.07	-41.1616	11.4349	0.50062	0.1468:0.0:0.8532:0.0	.	165;165	A4D275;O15143	.;ARC1B_HUMAN	N	165	ENSP00000252725:K165N;ENSP00000389631:K165N	ENSP00000252725:K165N	K	+	3	2	ARPC1B	98825566	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.120000	0.41968	1.423000	0.47198	0.561000	0.74099	AAG		0.622	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		37	80	0	0	0	0.015359	0	37	80				
LRRC17	10234	broad.mit.edu	37	7	102574765	102574765	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr7:102574765A>T	ENST00000339431.4	+	2	700	c.405A>T	c.(403-405)ttA>ttT	p.L135F	FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.L135F|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000455112.2_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	135					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						CCACCCTCTTACTGCAGCACA	0.443																																							uc003vau.2		NA																	0				ovary(1)	1						c.(403-405)TTA>TTT		leucine rich repeat containing 17 isoform 1							106.0	99.0	101.0					7																	102574765		2203	4300	6503	SO:0001583	missense	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102574765A>T	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.405A>T	7.37:g.102574765A>T	ENSP00000344242:p.Leu135Phe					FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Missense_Mutation_p.L135F	p.L135F	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN			2	794	+			135			LRR 3.		Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	c.405A>T	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.995686	0.74703	.	.	ENSG00000128606	ENST00000339431;ENST00000249377	T;T	0.57436	0.4;0.4	5.41	-1.94	0.07571	.	0.000000	0.43416	D	0.000566	T	0.41811	0.1175	N	0.10972	0.075	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41520	-0.9504	10	0.14656	T	0.56	-10.14	6.2968	0.21091	0.5421:0.1259:0.3321:0.0	.	135;135	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	F	135	ENSP00000344242:L135F;ENSP00000249377:L135F	ENSP00000249377:L135F	L	+	3	2	LRRC17	102362001	0.996000	0.38824	0.986000	0.45419	0.981000	0.71138	0.482000	0.22276	-0.254000	0.09500	0.455000	0.32223	TTA		0.443	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		16	49	0	0	0	0.028581	0	16	49				
CCDC136	64753	broad.mit.edu	37	7	128441511	128441511	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr7:128441511G>T	ENST00000297788.4	+	4	985	c.618G>T	c.(616-618)aaG>aaT	p.K206N	CCDC136_ENST00000487361.1_Missense_Mutation_p.K206N|CCDC136_ENST00000378685.4_Missense_Mutation_p.K256N|CCDC136_ENST00000464832.1_Missense_Mutation_p.K256N	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	206	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TGGAAATGAAGAGCTCTGAAC	0.483																																							uc003vnv.1		NA																	0				ovary(2)	2						c.(616-618)AAG>AAT		coiled-coil domain containing 136							45.0	49.0	48.0					7																	128441511		1961	4145	6106	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128441511G>T		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.618G>T	7.37:g.128441511G>T	ENSP00000297788:p.Lys206Asn					CCDC136_uc003vnu.1_Missense_Mutation_p.K256N|CCDC136_uc003vnw.1_Missense_Mutation_p.K206N|CCDC136_uc003vnx.1_Missense_Mutation_p.K22N|CCDC136_uc010llq.1_5'UTR	p.K206N	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			4	985	+			206			Glu-rich.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.618G>T	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.49|16.49	3.137792|3.137792	0.56936|0.56936	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524|ENST00000494552	D;T;T;T|.	0.84146|.	-1.81;0.71;0.69;0.93|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67135|0.67135	0.2861|0.2861	M|M	0.70275|0.70275	2.135|2.135	0.45946|0.45946	D|D	0.998775|0.998775	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.992;0.999;0.983|.	T|T	0.66775|0.66775	-0.5838|-0.5838	10|5	0.42905|.	T|.	0.14|.	-41.5264|-41.5264	10.6188|10.6188	0.45467|0.45467	0.0868:0.0:0.9132:0.0|0.0868:0.0:0.9132:0.0	.|.	206;206;256|.	C9JE17;Q96JN2;Q96JN2-3|.	.;CC136_HUMAN;.|.	N|I	256;256;206;206;206;206|83	ENSP00000367956:K256N;ENSP00000419515:K256N;ENSP00000420509:K206N;ENSP00000297788:K206N|.	ENSP00000297788:K206N|.	K|R	+|+	3|2	2|0	CCDC136|CCDC136	128228747|128228747	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.070000|0.070000	0.16714|0.16714	5.182000|5.182000	0.65059|0.65059	2.668000|2.668000	0.90789|0.90789	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.483	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		4	20	1	0	0.000602214	0.014758	0.000646588	4	20				
FLNC	2318	broad.mit.edu	37	7	128484144	128484144	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr7:128484144C>A	ENST00000325888.8	+	20	3277	c.3016C>A	c.(3016-3018)Ccc>Acc	p.P1006T	FLNC_ENST00000346177.6_Missense_Mutation_p.P1006T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1006					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GATGACTTCGCCCTCTCGCCG	0.662																																							uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(3016-3018)CCC>ACC		gamma filamin isoform a							38.0	45.0	43.0					7																	128484144		2109	4232	6341	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128484144C>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3016C>A	7.37:g.128484144C>A	ENSP00000327145:p.Pro1006Thr					FLNC_uc003voa.3_Missense_Mutation_p.P1006T	p.P1006T	NM_001458	NP_001449	Q14315	FLNC_HUMAN			20	3225	+			1006			Filamin 8.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.3016C>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461460	0.84317	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.94758	-3.51;-3.44	5.05	5.05	0.67936	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98197	0.9404	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.986	D	0.99640	1.0988	10	0.87932	D	0	.	18.4021	0.90520	0.0:1.0:0.0:0.0	.	1006;1006	Q14315-2;Q14315	.;FLNC_HUMAN	T	1006	ENSP00000327145:P1006T;ENSP00000344002:P1006T	ENSP00000327145:P1006T	P	+	1	0	FLNC	128271380	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.815000	0.86186	2.346000	0.79739	0.484000	0.47621	CCC		0.662	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			15	30	1	0	4.7546e-09	0.028581	5.91426e-09	15	30				
CLCN1	1180	broad.mit.edu	37	7	143043333	143043333	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr7:143043333C>A	ENST00000343257.2	+	18	2360	c.2273C>A	c.(2272-2274)cCa>cAa	p.P758Q		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	758					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCGGAAGCACCAGAGCCTGCA	0.592																																							uc003wcr.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2272-2274)CCA>CAA		chloride channel 1, skeletal muscle							55.0	53.0	53.0					7																	143043333		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143043333C>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2273C>A	7.37:g.143043333C>A	ENSP00000339867:p.Pro758Gln					CLCN1_uc011ktc.1_Missense_Mutation_p.P370Q	p.P758Q	NM_000083	NP_000074	P35523	CLCN1_HUMAN			18	2360	+	Melanoma(164;0.205)		758			Cytoplasmic (By similarity).		A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.2273C>A	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	1.750	-0.489570	0.04352	.	.	ENSG00000188037	ENST00000343257	D	0.84370	-1.84	4.34	2.23	0.28157	.	0.957743	0.08610	N	0.920236	T	0.70570	0.3239	N	0.16478	0.41	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.54549	-0.8277	10	0.13470	T	0.59	.	6.3093	0.21156	0.1618:0.648:0.0:0.1902	.	758	P35523	CLCN1_HUMAN	Q	758	ENSP00000339867:P758Q	ENSP00000339867:P758Q	P	+	2	0	CLCN1	142753455	0.000000	0.05858	0.057000	0.19452	0.634000	0.38068	0.287000	0.18920	0.828000	0.34709	0.561000	0.74099	CCA		0.592	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		13	40	1	0	0.00010058	0.013537	0.000110313	13	40				
KMT2C	58508	broad.mit.edu	37	7	151874411	151874411	+	Silent	SNP	G	G	A	rs531059054		TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr7:151874411G>A	ENST00000262189.6	-	38	8345	c.8127C>T	c.(8125-8127)gtC>gtT	p.V2709V	KMT2C_ENST00000355193.2_Silent_p.V2709V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2709	Asp-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTAAGTCTTTGACTTCAACCC	0.378													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20461	0.0		0.0	False		,,,				2504	0.0					Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(8125-8127)GTC>GTT		myeloid/lymphoid or mixed-lineage leukemia 3							56.0	58.0	57.0					7																	151874411		2202	4300	6502	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151874411G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8127C>T	7.37:g.151874411G>A						MLL3_uc003wkz.2_Silent_p.V1770V|MLL3_uc003wky.2_Silent_p.V218V	p.V2709V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	38	8346	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2709			Asp-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.8127C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	6.728	0.503119	0.12822	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.63	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5387	0.17026	0.2102:0.0:0.6481:0.1417	.	.	.	.	X	215	.	.	Q	-	1	0	MLL3	151505344	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	0.417000	0.21214	0.739000	0.32628	-0.158000	0.13435	CAA		0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			23	72	0	0	0	0.014323	0	23	72				
KMT2C	58508	broad.mit.edu	37	7	151945239	151945239	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr7:151945239T>C	ENST00000262189.6	-	14	2498	c.2280A>G	c.(2278-2280)atA>atG	p.I760M	KMT2C_ENST00000355193.2_Missense_Mutation_p.I760M	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	760					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATGATAACTTTATAGATTTGC	0.408																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2278-2280)ATA>ATG		myeloid/lymphoid or mixed-lineage leukemia 3							120.0	110.0	113.0					7																	151945239		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151945239T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2280A>G	7.37:g.151945239T>C	ENSP00000262189:p.Ile760Met						p.I760M	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	14	2499	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	760					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2280A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	3.989	-0.004964	0.07773	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83673	-1.75;-1.75	5.27	-1.56	0.08532	.	0.969624	0.08417	N	0.948974	T	0.63908	0.2551	N	0.19112	0.55	0.20074	N	0.999935	P	0.34780	0.468	B	0.24541	0.054	T	0.51403	-0.8710	10	0.48119	T	0.1	.	4.1611	0.10284	0.2269:0.266:0.0:0.5071	.	760	Q8NEZ4	MLL3_HUMAN	M	760	ENSP00000262189:I760M;ENSP00000347325:I760M	ENSP00000262189:I760M	I	-	3	3	MLL3	151576172	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-1.435000	0.02423	-0.551000	0.06175	-0.297000	0.09499	ATA		0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	191	0	0	0	0.016723	0	5	191				
ABRA	137735	broad.mit.edu	37	8	107773518	107773518	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr8:107773518C>G	ENST00000311955.3	-	2	947	c.893G>C	c.(892-894)aGg>aCg	p.R298T		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			ACGCTTGGCCCTTTCAGCAGT	0.517																																							uc003ymm.3		NA																	0				ovary(2)	2						c.(892-894)AGG>ACG		actin-binding Rho activating protein							136.0	107.0	117.0					8																	107773518		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107773518C>G	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.893G>C	8.37:g.107773518C>G	ENSP00000311436:p.Arg298Thr						p.R298T	NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		2	947	-			298						Missense_Mutation	SNP	ENST00000311955.3	37	c.893G>C	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018946	0.93404	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.85071	0.5613	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85837	0.1395	9	0.87932	D	0	-4.1141	20.6208	0.99490	0.0:1.0:0.0:0.0	.	298	Q8N0Z2	ABRA_HUMAN	T	298	.	ENSP00000311436:R298T	R	-	2	0	ABRA	107842694	1.000000	0.71417	0.875000	0.34327	0.855000	0.48748	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	AGG		0.517	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		16	43	0	0	0	0.028581	0	16	43				
ASAP1	50807	broad.mit.edu	37	8	131193098	131193098	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr8:131193098G>A	ENST00000518721.1	-	8	786	c.559C>T	c.(559-561)Cac>Tac	p.H187Y	ASAP1_ENST00000357668.1_Missense_Mutation_p.H187Y	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	187					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGTTTTGCGTGCTCTCTTTTC	0.383																																							uc003yta.1		NA																	0				ovary(4)	4						c.(559-561)CAC>TAC		development and differentiation enhancing factor							281.0	256.0	265.0					8																	131193098		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131193098G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.559C>T	8.37:g.131193098G>A	ENSP00000429900:p.His187Tyr					ASAP1_uc003ysz.1_5'UTR|ASAP1_uc011liw.1_Missense_Mutation_p.H180Y	p.H187Y	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			7	587	-			187					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.559C>T	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.592606|4.592606	0.86953|0.86953	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124|ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367	.|T;T;T	.|0.04156	.|3.69;3.69;3.69	5.52|5.52	5.52|5.52	0.82312|0.82312	.|IRSp53/MIM homology domain (IMD) (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.11196|0.11196	0.0273|0.0273	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D	.|0.59357	.|0.985;0.985	.|P;P	.|0.47206	.|0.541;0.541	T|T	0.00670|0.00670	-1.1617|-1.1617	5|10	.|0.52906	.|T	.|0.07	.|.	18.7849|18.7849	0.91951|0.91951	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|187;187	.|B2RNV3;Q9ULH1	.|.;ASAP1_HUMAN	V|Y	4|187;187;187;157	.|ENSP00000350297:H187Y;ENSP00000429900:H187Y;ENSP00000430588:H157Y	.|ENSP00000344591:H187Y	A|H	-|-	2|1	0|0	ASAP1|ASAP1	131262280|131262280	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.863000|0.863000	0.49368|0.49368	9.717000|9.717000	0.98755|0.98755	2.757000|2.757000	0.94681|0.94681	0.585000|0.585000	0.79938|0.79938	GCA|CAC		0.383	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		5	135	0	0	0	0.014758	0	5	135				
OC90	729330	broad.mit.edu	37	8	133048637	133048637	+	Silent	SNP	C	C	G			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr8:133048637C>G	ENST00000443356.2	-	10	794	c.708G>C	c.(706-708)ctG>ctC	p.L236L	OC90_ENST00000603859.1_Intron|OC90_ENST00000254627.3_Intron|OC90_ENST00000262283.5_Silent_p.L432L			Q02509	OC90_HUMAN	otoconin 90	236					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGAGAGTGATCAGTCTGTCAG	0.433																																							uc003ytg.2		NA																	0				ovary(2)|skin(1)	3						c.(658-660)CTG>CTC		otoconin 90							119.0	113.0	115.0					8																	133048637		1897	4132	6029	SO:0001819	synonymous_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133048637C>G	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.708G>C	8.37:g.133048637C>G						OC90_uc011lix.1_Intron	p.L220L	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		8	660	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		236					B4DNG8	Silent	SNP	ENST00000443356.2	37	c.660G>C																																																																																					0.433	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		18	54	0	0	0	0.055883	0	18	54				
PTPRD	5789	broad.mit.edu	37	9	8484343	8484343	+	Silent	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr9:8484343C>A	ENST00000381196.4	-	27	3732	c.3189G>T	c.(3187-3189)gtG>gtT	p.V1063V	PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000540109.1_Silent_p.V1063V|PTPRD_ENST00000397606.3_Silent_p.V642V|PTPRD_ENST00000397611.3_Silent_p.V649V|PTPRD_ENST00000356435.5_Silent_p.V1063V|PTPRD_ENST00000537002.1_Silent_p.V649V|PTPRD_ENST00000360074.4_Silent_p.V1050V|PTPRD_ENST00000358503.5_Silent_p.V1041V|PTPRD_ENST00000355233.5_Silent_p.V652V|PTPRD_ENST00000486161.1_Silent_p.V652V|PTPRD_ENST00000397617.3_Silent_p.V642V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1063	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTCGGCCATCCACTTCTTCTA	0.378										TSP Lung(15;0.13)																													uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3187-3189)GTG>GTT		protein tyrosine phosphatase, receptor type, D							76.0	73.0	74.0					9																	8484343		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8484343C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3189G>T	9.37:g.8484343C>A		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Silent_p.V652V|PTPRD_uc003zkq.2_Silent_p.V652V|PTPRD_uc003zkr.2_Silent_p.V647V|PTPRD_uc003zks.2_Silent_p.V642V|PTPRD_uc003zkl.2_Silent_p.V1054V|PTPRD_uc003zkm.2_Silent_p.V1050V|PTPRD_uc003zkn.2_Silent_p.V652V|PTPRD_uc003zko.2_Silent_p.V649V	p.V1063V	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	29	3900	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1063			Fibronectin type-III 8.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.3189G>T	CCDS43786.1																																																																																				0.378	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			11	29	1	0	3.86212e-05	0.008291	4.32897e-05	11	29				
IFNA8	3445	broad.mit.edu	37	9	21409660	21409660	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr9:21409660G>A	ENST00000380205.1	+	1	515	c.485G>A	c.(484-486)tGt>tAt	p.C162Y		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	162					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		TACAGCTCTTGTGCCTGGGAG	0.428																																							uc003zpc.1		NA																	0					0						c.(484-486)TGT>TAT		interferon, alpha 8 precursor							202.0	201.0	201.0					9																	21409660		2203	4300	6503	SO:0001583	missense	3445				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21409660G>A		CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.485G>A	9.37:g.21409660G>A	ENSP00000369553:p.Cys162Tyr						p.C162Y	NM_002170	NP_002161	P32881	IFNA8_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)	1	515	+			162					P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	ENST00000380205.1	37	c.485G>A	CCDS6507.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947942	0.53186	.	.	ENSG00000120242	ENST00000380205	T	0.05649	3.41	3.66	3.66	0.41972	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.201355	0.44097	D	0.000493	T	0.30417	0.0764	M	0.91459	3.21	0.43226	D	0.995112	D	0.89917	1.0	D	0.97110	1.0	T	0.31475	-0.9942	10	0.87932	D	0	.	12.7398	0.57246	0.0:0.0:1.0:0.0	.	162	P32881	IFNA8_HUMAN	Y	162	ENSP00000369553:C162Y	ENSP00000369553:C162Y	C	+	2	0	IFNA8	21399660	1.000000	0.71417	0.976000	0.42696	0.790000	0.44656	5.236000	0.65354	2.060000	0.61445	0.491000	0.48974	TGT		0.428	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170		76	232	0	0	0	0.048971	0	76	232				
TOPORS	10210	broad.mit.edu	37	9	32541434	32541434	+	Missense_Mutation	SNP	C	C	A	rs537145680		TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr9:32541434C>A	ENST00000360538.2	-	3	3205	c.3089G>T	c.(3088-3090)cGg>cTg	p.R1030L	TOPORS_ENST00000379858.1_Missense_Mutation_p.R965L	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1030					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAATGATGTCCGTGGCGATGG	0.393																																							uc003zrb.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(3088-3090)CGG>CTG		topoisomerase I binding, arginine/serine-rich							96.0	92.0	93.0					9																	32541434		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541434C>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.3089G>T	9.37:g.32541434C>A	ENSP00000353735:p.Arg1030Leu					TOPORS_uc003zrc.2_Missense_Mutation_p.R963L	p.R1030L	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	3256	-			1030					O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.3089G>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750403	0.69533	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.18502	2.21;2.23	5.25	4.11	0.48088	.	0.000000	0.38897	N	0.001523	T	0.15998	0.0385	N	0.19112	0.55	0.30575	N	0.763151	D	0.57257	0.979	P	0.54706	0.759	T	0.03259	-1.1055	10	0.62326	D	0.03	-6.5977	4.8446	0.13507	0.0:0.6475:0.2136:0.1389	.	1030	Q9NS56	TOPRS_HUMAN	L	1030;965	ENSP00000353735:R1030L;ENSP00000369187:R965L	ENSP00000353735:R1030L	R	-	2	0	TOPORS	32531434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.168000	0.31859	2.627000	0.88993	0.650000	0.86243	CGG		0.393	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		21	56	1	0	1.01871e-10	0.049695	1.30703e-10	21	56				
FRMPD1	22844	broad.mit.edu	37	9	37745408	37745408	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr9:37745408G>T	ENST00000539465.1	+	16	3972	c.3379G>T	c.(3379-3381)Gag>Tag	p.E1127*	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.E1127*			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1127						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CGTATTTCAGGAGGAGTCTAG	0.428																																							uc004aag.1		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(3379-3381)GAG>TAG		FERM and PDZ domain containing 1							70.0	74.0	72.0					9																	37745408		2203	4300	6503	SO:0001587	stop_gained	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745408G>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3379G>T	9.37:g.37745408G>T	ENSP00000444411:p.Glu1127*					FRMPD1_uc004aah.1_Nonsense_Mutation_p.E1127*	p.E1127*	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	3423	+			1127					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Nonsense_Mutation	SNP	ENST00000539465.1	37	c.3379G>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	44	11.175421	0.99526	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	.	.	.	5.12	4.21	0.49690	.	1.642630	0.02708	N	0.112466	.	.	.	.	.	.	0.44117	D	0.996897	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-3.5062	8.74	0.34552	0.1078:0.0:0.8922:0.0	.	.	.	.	X	1127	.	ENSP00000366995:E1127X	E	+	1	0	FRMPD1	37735408	0.871000	0.30034	0.050000	0.19076	0.195000	0.23768	2.675000	0.46875	1.122000	0.41944	0.462000	0.41574	GAG		0.428	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		14	53	1	0	1.3612e-06	0.024245	1.61445e-06	14	53				
PRUNE2	158471	broad.mit.edu	37	9	79325166	79325166	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr9:79325166T>C	ENST00000376718.3	-	8	2147	c.2024A>G	c.(2023-2025)gAa>gGa	p.E675G	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E316G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	675					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGATTCCTGTTCACTGGAACT	0.498																																							uc010mpk.2		NA																	0					0						c.(2023-2025)GAA>GGA		prune homolog 2							56.0	52.0	53.0					9																	79325166		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325166T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2024A>G	9.37:g.79325166T>C	ENSP00000365908:p.Glu675Gly						p.E675G	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	2148	-			675					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.2024A>G	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.542676	0.45280	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.25250	1.81;1.81	5.86	4.72	0.59763	.	0.244999	0.28958	N	0.013589	T	0.28599	0.0708	M	0.64997	1.995	0.80722	D	1	B	0.20887	0.049	B	0.19666	0.026	T	0.05733	-1.0867	10	0.87932	D	0	-13.5758	11.8522	0.52417	0.0:0.0682:0.0:0.9318	.	675	Q8WUY3	PRUN2_HUMAN	G	675;316;674	ENSP00000365908:E675G;ENSP00000397425:E316G	ENSP00000365908:E675G	E	-	2	0	PRUNE2	78514986	1.000000	0.71417	0.995000	0.50966	0.647000	0.38526	3.933000	0.56545	1.048000	0.40298	-0.256000	0.11100	GAA		0.498	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		15	42	0	0	0	0.020292	0	15	42				
SPATA31D5P	347127	broad.mit.edu	37	9	84530312	84530312	+	RNA	SNP	G	G	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr9:84530312G>A	ENST00000527857.1	+	0	334					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		TGCAGCTTTGGACCTCCTGCT	0.577																																							uc011lst.1		NA																	0					0						c.(232-234)GGA>GAA		SubName: Full=cDNA FLJ43950 fis, clone TESTI4015293, moderately similar to FAM75-like protein;																																						347127							g.chr9:84530312G>A			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84530312G>A							p.G78E	NR_026851						4	334	+									Missense_Mutation	SNP	ENST00000527857.1	37	c.233G>A																																																																																					0.577	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		4	11	0	0	0	0.014758	0	4	11				
OR13F1	138805	broad.mit.edu	37	9	107267390	107267390	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr9:107267390C>A	ENST00000334726.2	+	1	936	c.847C>A	c.(847-849)Ccc>Acc	p.P283T		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGGACAAACCCCCATGTTGAA	0.418																																							uc011lvm.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(847-849)CCC>ACC		olfactory receptor, family 13, subfamily F,							67.0	67.0	67.0					9																	107267390		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267390C>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.847C>A	9.37:g.107267390C>A	ENSP00000334452:p.Pro283Thr						p.P283T	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	847	+			283			Helical; Name=7; (Potential).		Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.847C>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806546	0.50421	.	.	ENSG00000186881	ENST00000334726	T	0.41400	1.0	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000105	T	0.73481	0.3592	H	0.96175	3.78	0.53005	D	0.999969	D	0.71674	0.998	D	0.67382	0.951	T	0.82554	-0.0399	10	0.87932	D	0	.	15.0807	0.72113	0.0:1.0:0.0:0.0	.	283	Q8NGS4	O13F1_HUMAN	T	283	ENSP00000334452:P283T	ENSP00000334452:P283T	P	+	1	0	OR13F1	106307211	0.992000	0.36948	0.756000	0.31282	0.242000	0.25591	3.577000	0.53885	2.681000	0.91329	0.655000	0.94253	CCC		0.418	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			24	49	1	0	9.57634e-11	0.01892	1.24431e-10	24	49				
ASTN2	23245	broad.mit.edu	37	9	119976989	119976989	+	Silent	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr9:119976989C>A	ENST00000313400.4	-	3	763	c.663G>T	c.(661-663)ctG>ctT	p.L221L	ASTN2_ENST00000373996.3_Silent_p.L221L|ASTN2_ENST00000361209.2_Silent_p.L221L|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCA	0.597																																							uc004bjs.1		NA																	0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(661-663)CTG>CTT		astrotactin 2 isoform c							35.0	36.0	36.0					9																	119976989		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119976989C>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.663G>T	9.37:g.119976989C>A						ASTN2_uc004bjr.1_Silent_p.L221L|ASTN2_uc004bjt.1_Silent_p.L221L	p.L221L	NM_198187	NP_937830	O75129	ASTN2_HUMAN			3	764	-			221			Helical; (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.663G>T																																																																																					0.597	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		16	31	1	0	6.94344e-10	0.038395	8.7436e-10	16	31				
AKAP17A	8227	broad.mit.edu	37	X	1714286	1714286	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chrX:1714286G>T	ENST00000313871.3	+	3	968	c.772G>T	c.(772-774)Gat>Tat	p.D258Y	AKAP17A_ENST00000381261.3_Missense_Mutation_p.D258Y	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	258					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GGTTTCTTTTGATTCGACCAA	0.537																																							uc004cqa.2		NA																	0					0						c.(772-774)GAT>TAT		DNA segment on chromosome X and Y (unique) 155							276.0	285.0	282.0					X																	1714286		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1714286G>T	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.772G>T	X.37:g.1714286G>T	ENSP00000324827:p.Asp258Tyr					SFRS17A_uc010ncx.1_Missense_Mutation_p.D258Y|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	p.D258Y	NM_005088	NP_005079	Q02040	AK17A_HUMAN			3	968	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	258					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.772G>T	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	12.63	1.996904	0.35226	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.53640	0.61;0.61	2.43	0.383	0.16239	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	U	0.000000	T	0.61640	0.2363	.	.	.	0.19775	N	0.999954	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.957	T	0.53585	-0.8418	9	0.87932	D	0	.	6.888	0.24214	0.1098:0.1724:0.7178:0.0	.	258;258	Q02040-3;Q02040	.;AK17A_HUMAN	Y	258	ENSP00000324827:D258Y;ENSP00000370660:D258Y	ENSP00000324827:D258Y	D	+	1	0	AKAP17A	1674286	1.000000	0.71417	0.000000	0.03702	0.242000	0.25591	6.185000	0.72013	-0.285000	0.09089	0.100000	0.15512	GAT		0.537	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		61	87	1	0	1.40369e-38	0.048971	2.29082e-38	61	87				
HDHD1	8226	broad.mit.edu	37	X	6995490	6995490	+	Splice_Site	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chrX:6995490C>A	ENST00000381077.5	-	3	357	c.281G>T	c.(280-282)gGg>gTg	p.G94V	HDHD1_ENST00000412827.2_Splice_Site_p.G51V|HDHD1_ENST00000540122.1_Splice_Site_p.G94V|HDHD1_ENST00000424830.2_Splice_Site_p.G117V	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	94					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						TTTCTCCGCCCCTGGGGAGGA	0.612																																							uc004crv.2		NA																	0					0						c.(280-282)GGG>GTG		haloacid dehalogenase-like hydrolase domain							30.0	32.0	31.0					X																	6995490		2090	4175	6265	SO:0001630	splice_region_variant	8226				nucleotide metabolic process		metal ion binding|phosphatase activity	g.chrX:6995490C>A	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.281-1G>T	X.37:g.6995490C>A						HDHD1A_uc011mhm.1_Missense_Mutation_p.G117V|HDHD1A_uc011mhn.1_Missense_Mutation_p.G51V|HDHD1A_uc010ndl.2_Intron|HDHD1A_uc011mho.1_Missense_Mutation_p.G94V	p.G94V	NM_012080	NP_036212	Q08623	HDHD1_HUMAN			3	358	-		Colorectal(8;0.0114)|Medulloblastoma(8;0.184)	94					B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	ENST00000381077.5	37	c.281G>T	CCDS48075.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678570	0.68042	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000412827;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	3.88	3.88	0.44766	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.78842	0.4347	H	0.97291	3.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;1.0	D	0.86820	0.2004	10	0.87932	D	0	.	14.2329	0.65906	0.0:1.0:0.0:0.0	.	94;51;117;94	Q08623-3;Q08623-2;E9PAV8;Q08623	.;.;.;HDHD1_HUMAN	V	94;110;51;117;94;94	ENSP00000370467:G94V;ENSP00000406260:G51V;ENSP00000396452:G117V;ENSP00000441208:G94V;ENSP00000430995:G94V	ENSP00000370467:G94V	G	-	2	0	HDHD1	7005490	1.000000	0.71417	0.050000	0.19076	0.010000	0.07245	6.325000	0.72901	1.713000	0.51359	0.513000	0.50165	GGG		0.612	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080	Missense_Mutation	8	7	1	0	7.48243e-07	0.006214	8.92641e-07	8	7				
SRPX	8406	broad.mit.edu	37	X	38024106	38024106	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chrX:38024106C>A	ENST00000378533.3	-	5	675	c.569G>T	c.(568-570)cGc>cTc	p.R190L	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_Missense_Mutation_p.R131L|SRPX_ENST00000544439.1_Missense_Mutation_p.R170L|SRPX_ENST00000538295.1_Missense_Mutation_p.R190L|SRPX_ENST00000343800.6_Missense_Mutation_p.R177L	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	190	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.R190H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TTCTGCAATGCGTTCCTTCAC	0.443																																							uc004ddy.1		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(568-570)CGC>CTC		sushi-repeat-containing protein, X-linked							167.0	142.0	151.0					X																	38024106		2202	4300	6502	SO:0001583	missense	8406				cell adhesion	cell surface|membrane		g.chrX:38024106C>A	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.569G>T	X.37:g.38024106C>A	ENSP00000367794:p.Arg190Leu					SRPX_uc004ddz.1_Missense_Mutation_p.R170L|SRPX_uc011mkh.1_Missense_Mutation_p.R131L|SRPX_uc011mki.1_Missense_Mutation_p.R190L	p.R190L	NM_006307	NP_006298	P78539	SRPX_HUMAN			5	655	-			190			HYR.		A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	c.569G>T	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233074	0.79688	.	.	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000538295;ENST00000378533;ENST00000343800	T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77	5.79	5.79	0.91817	Hyalin (2);	0.046879	0.85682	D	0.000000	T	0.19725	0.0474	N	0.12182	0.205	0.43508	D	0.995763	P;P;P;P	0.51057	0.875;0.941;0.891;0.911	P;P;B;B	0.55011	0.766;0.648;0.266;0.385	T	0.16719	-1.0393	10	0.09590	T	0.72	-12.9387	6.7217	0.23334	0.0:0.7669:0.0:0.2331	.	190;131;170;190	F5H4D7;B4DQH5;G3V1L0;P78539	.;.;.;SRPX_HUMAN	L	170;131;190;190;177	ENSP00000440758:R170L;ENSP00000411165:R131L;ENSP00000445034:R190L;ENSP00000367794:R190L;ENSP00000339211:R177L	ENSP00000339211:R177L	R	-	2	0	SRPX	37909050	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.674000	0.61612	2.426000	0.82243	0.506000	0.49869	CGC		0.443	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		11	10	1	0	3.07112e-06	0.010729	3.53959e-06	11	10				
RBM10	8241	broad.mit.edu	37	X	47044523	47044523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chrX:47044523C>T	ENST00000377604.3	+	18	2762	c.2020C>T	c.(2020-2022)Cag>Tag	p.Q674*	RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q596*|RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q597*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	674					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AAATAGCTTCCAGCCTATCAG	0.567																																					Melanoma(171;120 2705 19495 39241)	Melanoma(171;120 2705 19495 39241)	uc004dhf.2		NA																	0				ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(2020-2022)CAG>TAG		RNA binding motif protein 10 isoform 1							51.0	48.0	49.0					X																	47044523		2203	4300	6503	SO:0001587	stop_gained	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47044523C>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2020C>T	X.37:g.47044523C>T	ENSP00000366829:p.Gln674*					RBM10_uc004dhg.2_Nonsense_Mutation_p.Q596*|RBM10_uc004dhh.2_Nonsense_Mutation_p.Q673*|RBM10_uc010nhq.2_Nonsense_Mutation_p.Q597*|RBM10_uc004dhi.2_Nonsense_Mutation_p.Q739*	p.Q674*	NM_005676	NP_005667	P98175	RBM10_HUMAN			18	2399	+			674					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Nonsense_Mutation	SNP	ENST00000377604.3	37	c.2020C>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	C	41	8.770604	0.98948	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	.	.	.	5.59	5.59	0.84812	.	0.251970	0.35378	N	0.003258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-13.4242	16.1123	0.81271	0.0:1.0:0.0:0.0	.	.	.	.	X	674;596;597	.	ENSP00000328848:Q596X	Q	+	1	0	RBM10	46929467	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	5.742000	0.68646	2.494000	0.84150	0.506000	0.49869	CAG		0.567	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		19	14	0	0	0	0.043863	0	19	14				
TEX11	56159	broad.mit.edu	37	X	70127661	70127661	+	Splice_Site	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chrX:70127661C>A	ENST00000395889.2	-	2	58		c.e2-1		TEX11_ENST00000374333.2_Splice_Site	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11						chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TGGCTCAAGCCTGTGAAATAA	0.338																																							uc004dyl.2		NA																	0				ovary(3)|breast(1)|skin(1)	5						c.e2-1		testis expressed sequence 11 isoform 1							69.0	61.0	63.0					X																	70127661		1793	4064	5857	SO:0001630	splice_region_variant	56159						protein binding	g.chrX:70127661C>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.98-1G>T	X.37:g.70127661C>A						TEX11_uc004dym.2_Splice_Site		NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			2	65	-	Renal(35;0.156)							A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Splice_Site	SNP	ENST00000395889.2	37	c.-97_splice	CCDS35323.1																																																																																				0.338	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		Intron	13	13	1	0	0.00010058	0.013537	0.000110313	13	13				
RLIM	51132	broad.mit.edu	37	X	73812447	73812447	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chrX:73812447T>C	ENST00000332687.6	-	4	921	c.703A>G	c.(703-705)Atg>Gtg	p.M235V	RLIM_ENST00000349225.2_Missense_Mutation_p.M235V	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	235					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTTCACTCATTGGATGCAGA	0.498																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2		NA																	0				ovary(2)	2						c.(703-705)ATG>GTG		ring finger protein, LIM domain interacting							115.0	96.0	103.0					X																	73812447		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812447T>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.703A>G	X.37:g.73812447T>C	ENSP00000328059:p.Met235Val					RLIM_uc004ebw.2_Missense_Mutation_p.M235V	p.M235V	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	993	-			235					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.703A>G	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.959704	0.00465	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.06933	3.24;3.24	5.78	2.05	0.26809	.	0.461817	0.26355	N	0.024843	T	0.02767	0.0083	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47086	-0.9144	10	0.14656	T	0.56	14.4232	7.6893	0.28559	0.0:0.6738:0.0:0.3262	.	235	Q9NVW2	RNF12_HUMAN	V	235	ENSP00000328059:M235V;ENSP00000253571:M235V	ENSP00000328059:M235V	M	-	1	0	RLIM	73729172	1.000000	0.71417	0.587000	0.28692	0.195000	0.23768	3.168000	0.50801	0.281000	0.22233	-0.447000	0.05616	ATG		0.498	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		36	17	0	0	0	0.017118	0	36	17				
POF1B	79983	broad.mit.edu	37	X	84585975	84585975	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chrX:84585975A>T	ENST00000262753.4	-	7	979	c.834T>A	c.(832-834)caT>caA	p.H278Q	POF1B_ENST00000373145.3_Missense_Mutation_p.H278Q	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	278						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTCTCTGCAAATGTTCTAATA	0.368																																							uc004eer.2		NA																	0					0						c.(832-834)CAT>CAA		premature ovarian failure, 1B							94.0	84.0	87.0					X																	84585975		2203	4300	6503	SO:0001583	missense	79983						actin binding	g.chrX:84585975A>T	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.834T>A	X.37:g.84585975A>T	ENSP00000262753:p.His278Gln					POF1B_uc004ees.2_Missense_Mutation_p.H278Q	p.H278Q	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			7	980	-			278					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.834T>A	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.409738	0.62399	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.23147	1.92;1.92	5.62	1.95	0.26073	.	0.000000	0.85682	D	0.000000	T	0.40979	0.1139	L	0.58101	1.795	0.43203	D	0.995059	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.12708	-1.0537	10	0.66056	D	0.02	.	7.4602	0.27291	0.7354:0.0:0.2646:0.0	.	278;278	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	Q	278	ENSP00000262753:H278Q;ENSP00000362238:H278Q	ENSP00000262753:H278Q	H	-	3	2	POF1B	84472631	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.171000	0.42453	0.262000	0.21774	-1.215000	0.01618	CAT		0.368	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		15	11	0	0	0	0.024245	0	15	11				
PCDH11X	27328	broad.mit.edu	37	X	91873486	91873486	+	Silent	SNP	C	C	T			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chrX:91873486C>T	ENST00000373094.1	+	7	4436	c.3591C>T	c.(3589-3591)caC>caT	p.H1197H	PCDH11X_ENST00000406881.1_Silent_p.H1189H|PCDH11X_ENST00000373097.1_Silent_p.H1187H|PCDH11X_ENST00000373088.1_Silent_p.H1160H|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000298274.8_Silent_p.H1160H|PCDH11X_ENST00000361655.2_Silent_p.H1179H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1197					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTCTCTGCCACAGCCCTCCAG	0.597																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(3589-3591)CAC>CAT		protocadherin 11 X-linked isoform c							251.0	187.0	209.0					X																	91873486		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873486C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3591C>T	X.37:g.91873486C>T						PCDH11X_uc004efl.1_Silent_p.H1187H|PCDH11X_uc004efo.1_Silent_p.H1160H|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Silent_p.H1189H|PCDH11X_uc004efn.1_Silent_p.H1179H	p.H1197H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4436	+			1197			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.3591C>T	CCDS14461.1																																																																																				0.597	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		8	87	0	0	0	0.038147	0	8	87				
SPANXN2	494119	broad.mit.edu	37	X	142795254	142795254	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chrX:142795254C>A	ENST00000370498.1	-	2	1177	c.424G>T	c.(424-426)Gac>Tac	p.D142Y		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	142										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGATGAGTCCAGGTCTTCG	0.512																																							uc004fbz.2		NA																	0				ovary(1)	1						c.(424-426)GAC>TAC		SPANX-N2 protein							174.0	163.0	166.0					X																	142795254		2203	4298	6501	SO:0001583	missense	494119							g.chrX:142795254C>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.424G>T	X.37:g.142795254C>A	ENSP00000359529:p.Asp142Tyr						p.D142Y	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	1178	-	Acute lymphoblastic leukemia(192;6.56e-05)		142					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.424G>T	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	N	0.203	-1.042828	0.01997	.	.	ENSG00000203924	ENST00000370498	T	0.07567	3.18	0.763	-1.53	0.08611	.	.	.	.	.	T	0.06917	0.0176	L	0.52573	1.65	0.09310	N	1	B	0.18863	0.031	B	0.06405	0.002	T	0.44467	-0.9326	8	0.66056	D	0.02	.	.	.	.	.	142	Q5MJ10	SPXN2_HUMAN	Y	142	ENSP00000359529:D142Y	ENSP00000359529:D142Y	D	-	1	0	SPANXN2	142622920	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.442000	0.06871	-4.325000	0.00056	-3.581000	0.00029	GAC		0.512	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		87	93	1	0	3.74932e-68	0.048971	6.16824e-68	87	93				
SPANXN2	494119	broad.mit.edu	37	X	142795332	142795332	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chrX:142795332C>A	ENST00000370498.1	-	2	1099	c.346G>T	c.(346-348)Gac>Tac	p.D116Y		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	116										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGATGAGTCCAGGTCTTCG	0.517																																							uc004fbz.2		NA																	0				ovary(1)	1						c.(346-348)GAC>TAC		SPANX-N2 protein							34.0	32.0	33.0					X																	142795332		2199	4281	6480	SO:0001583	missense	494119							g.chrX:142795332C>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.346G>T	X.37:g.142795332C>A	ENSP00000359529:p.Asp116Tyr						p.D116Y	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	1100	-	Acute lymphoblastic leukemia(192;6.56e-05)		116					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.346G>T	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	N	4.460	0.085217	0.08583	.	.	ENSG00000203924	ENST00000370498	T	0.07800	3.16	0.375	-0.75	0.11080	.	.	.	.	.	T	0.09555	0.0235	L	0.59436	1.845	0.09310	N	1	P	0.50156	0.932	B	0.43990	0.438	T	0.17077	-1.0381	8	0.87932	D	0	.	.	.	.	.	116	Q5MJ10	SPXN2_HUMAN	Y	116	ENSP00000359529:D116Y	ENSP00000359529:D116Y	D	-	1	0	SPANXN2	142622998	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.178000	0.16820	-0.513000	0.06496	0.151000	0.16131	GAC		0.517	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		10	181	1	0	1.55795e-14	0.012319	2.16205e-14	10	181				
PASD1	139135	broad.mit.edu	37	X	150832592	150832592	+	Splice_Site	SNP	C	C	G			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chrX:150832592C>G	ENST00000370357.4	+	11	1088	c.843C>G	c.(841-843)gcC>gcG	p.A281A		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	281						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCTCAGCCTTATCCTTGC	0.468																																							uc004fev.3		NA																	0				ovary(3)	3						c.(841-843)GCC>GCG		PAS domain containing 1							72.0	60.0	64.0					X																	150832592		2203	4300	6503	SO:0001630	splice_region_variant	139135					nucleus	signal transducer activity	g.chrX:150832592C>G	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.842-1C>G	X.37:g.150832592C>G							p.A281A	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			11	1175	+	Acute lymphoblastic leukemia(192;6.56e-05)		281					Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	ENST00000370357.4	37	c.843C>G	CCDS35431.1																																																																																				0.468	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	Silent	28	14	0	0	0	0.030593	0	28	14				
GLS2	27165	broad.mit.edu	37	12	56868875	56868875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr12:56868875delT	ENST00000311966.4	-	10	1227	c.949delA	c.(949-951)acafs	p.T317fs	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	317					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	CGATCCCCTGTTTCCTTCTCT	0.473																																							uc001slj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(949-951)ACAfs		glutaminase 2 precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						147.0	155.0	152.0					12																	56868875		2203	4300	6503	SO:0001589	frameshift_variant	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56868875delT		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.949delA	12.37:g.56868875delT	ENSP00000310447:p.Thr317fs					GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Frame_Shift_Del_p.T52fs|GLS2_uc009zot.2_Intron	p.T317fs	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN			10	1228	-			317					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Frame_Shift_Del	DEL	ENST00000311966.4	37	c.949delA	CCDS8921.1																																																																																				0.473	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		64	203	NA	NA	NA	NA	NA	64	203	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6913280	6913288	+	In_Frame_Del	DEL	CTGGTATGC	CTGGTATGC	-			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	CTGGTATGC	CTGGTATGC	-	-	CTGGTATGC	CTGGTATGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr17:6913280_6913288delCTGGTATGC	ENST00000251535.6	+	13	1700_1708	c.1647_1655delCTGGTATGC	c.(1645-1656)gactggtatgcc>gac	p.WYA550del	AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000573939.1_Intron|RNASEK_ENST00000548577.1_5'Flank|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000399541.2_Intron|RNASEK_ENST00000402093.1_5'Flank	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	550	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						TCCAGCTGGACTGGTATGCCTGGGTCCCT	0.56																																							uc002gdx.3		NA																	0				central_nervous_system(1)	1						c.(1645-1656)GACTGGTATGCC>GAC		arachidonate 12-lipoxygenase																																				SO:0001651	inframe_deletion	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6913280_6913288delCTGGTATGC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1647_1655delCTGGTATGC	17.37:g.6913280_6913288delCTGGTATGC	ENSP00000251535:p.Trp550_Ala552del					uc002gdy.1_Intron|ALOX12_uc002gdz.3_In_Frame_Del_p.WYA20del|RNASEK_uc002gea.2_5'Flank|C17orf49_uc002geb.3_5'Flank|C17orf49_uc002gec.2_5'Flank	p.WYA550del	NM_000697	NP_000688	P18054	LOX12_HUMAN			13	1700_1708	+			550_552			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	In_Frame_Del	DEL	ENST00000251535.6	37	c.1647_1655delCTGGTATGC	CCDS11084.1																																																																																				0.560	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			10	75	NA	NA	NA	NA	NA	10	75	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61390583	61390584	+	RNA	DEL	CA	CA	-			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr18:61390583_61390584delCA	ENST00000382749.5	+	0	1374_1375				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTTTATAAGGCACACTCATACC	0.515																																					Ovarian(27;496 784 5942 8975 23930)	Ovarian(27;496 784 5942 8975 23930)	uc002ljk.3		NA																	0				breast(1)	1						c.(1129-1131)CACfs		serpin peptidase inhibitor, clade B, member 11																																						89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61390583_61390584delCA			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390585_61390586delCA						SERPINB11_uc010xes.1_Frame_Shift_Del_p.H202fs|SERPINB11_uc010dqd.2_Intron|SERPINB11_uc002ljj.3_Frame_Shift_Del_p.H263fs|SERPINB11_uc010dqe.2_Frame_Shift_Del_p.H176fs|SERPINB11_uc010dqf.2_Frame_Shift_Del_p.H175fs	p.H377fs	NM_080475	NP_536723	Q96P15	SPB11_HUMAN			9	1191_1192	+		Esophageal squamous(42;0.129)	377					A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Frame_Shift_Del	DEL	ENST00000382749.5	37	c.1129_1130delCA																																																																																					0.515	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		31	87	NA	NA	NA	NA	NA	31	87	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179414066	179414066	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr2:179414066delT	ENST00000591111.1	-	289	87588	c.87364delA	c.(87364-87366)agcfs	p.S29122fs	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.S21823fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.S21890fs|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.S30763fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.S28195fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.S21698fs|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29122	Fibronectin type-III 112. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTTGTGCTTTTCTTTTCT	0.413																																							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.(84583-84585)AGCfs		titin isoform N2-A							150.0	145.0	147.0					2																	179414066		1937	4140	6077	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414066delT	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.87364delA	2.37:g.179414066delT	ENSP00000465570:p.Ser29122fs					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.S21890fs|TTN_uc010zfi.1_Frame_Shift_Del_p.S21823fs|TTN_uc010zfj.1_Frame_Shift_Del_p.S21698fs	p.S28195fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	84807	-			29122					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.84583delA																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	82	NA	NA	NA	NA	NA	29	82	---	---	---	---
DRD3	1814	broad.mit.edu	37	3	113849986	113849986	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr3:113849986delG	ENST00000460779.1	-	7	1274	c.985delC	c.(985-987)caafs	p.Q329fs	DRD3_ENST00000295881.7_Frame_Shift_Del_p.Q296fs|DRD3_ENST00000383673.2_Frame_Shift_Del_p.Q329fs|DRD3_ENST00000467632.1_Frame_Shift_Del_p.Q329fs	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	329					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCCACCATTTGGGTTGCCTTC	0.498																																							uc003ebd.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(985-987)CAAfs		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						88.0	74.0	79.0					3																	113849986		2203	4300	6503	SO:0001589	frameshift_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113849986delG		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.985delC	3.37:g.113849986delG	ENSP00000419402:p.Gln329fs					DRD3_uc010hqn.1_Frame_Shift_Del_p.Q329fs|DRD3_uc003ebb.1_Frame_Shift_Del_p.Q296fs|DRD3_uc003ebc.1_Frame_Shift_Del_p.Q329fs	p.Q329fs	NM_000796	NP_000787	P35462	DRD3_HUMAN			7	1408	-			329			Cytoplasmic.		A1A4V5|Q4VBM8	Frame_Shift_Del	DEL	ENST00000460779.1	37	c.985delC	CCDS2978.1																																																																																				0.498	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		17	54	NA	NA	NA	NA	NA	17	54	---	---	---	---
DRD3	1814	broad.mit.edu	37	3	113850028	113850028	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr3:113850028delG	ENST00000460779.1	-	7	1232	c.943delC	c.(943-945)ctgfs	p.L315fs	DRD3_ENST00000295881.7_Intron|DRD3_ENST00000383673.2_Frame_Shift_Del_p.L315fs|DRD3_ENST00000467632.1_Frame_Shift_Del_p.L315fs	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	315					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGAGGTTGCAGGGGCCCCAGC	0.537																																							uc003ebd.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(943-945)CTGfs		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						114.0	113.0	114.0					3																	113850028		2203	4300	6503	SO:0001589	frameshift_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113850028delG		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.943delC	3.37:g.113850028delG	ENSP00000419402:p.Leu315fs					DRD3_uc010hqn.1_Frame_Shift_Del_p.L315fs|DRD3_uc003ebb.1_Intron|DRD3_uc003ebc.1_Frame_Shift_Del_p.L315fs	p.L315fs	NM_000796	NP_000787	P35462	DRD3_HUMAN			7	1366	-			315			Cytoplasmic.		A1A4V5|Q4VBM8	Frame_Shift_Del	DEL	ENST00000460779.1	37	c.943delC	CCDS2978.1																																																																																				0.537	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		31	104	NA	NA	NA	NA	NA	31	104	---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	56044716	56044716	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr6:56044716delC	ENST00000244728.5	-	3	697	c.300delG	c.(298-300)ttgfs	p.L100fs	COL21A1_ENST00000370819.1_Frame_Shift_Del_p.L100fs|COL21A1_ENST00000535941.1_Frame_Shift_Del_p.L100fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	100	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGCTGCCGTCAAATGTTCTC	0.463																																							uc003pcs.2		NA																	0				ovary(2)	2						c.(298-300)TTGfs		collagen, type XXI, alpha 1 precursor							72.0	70.0	71.0					6																	56044716		1932	4135	6067	SO:0001589	frameshift_variant	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56044716delC	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.300delG	6.37:g.56044716delC	ENSP00000244728:p.Leu100fs					COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Frame_Shift_Del_p.L100fs|COL21A1_uc003pcu.1_Frame_Shift_Del_p.L100fs	p.L100fs	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		3	532	-	Lung NSC(77;0.0483)		100			VWFA.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Frame_Shift_Del	DEL	ENST00000244728.5	37	c.300delG	CCDS55025.1																																																																																				0.463	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			12	27	NA	NA	NA	NA	NA	12	27	---	---	---	---
SFRP4	6424	broad.mit.edu	37	7	37956011	37956011	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7659-01A-11D-2063-08	TCGA-44-7659-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4daa1421-462e-467b-bd12-1998736406ae	d522702c-a21c-467b-b77c-6ea8717c194e	g.chr7:37956011delG	ENST00000436072.2	-	1	506	c.129delC	c.(127-129)cccfs	p.P43fs	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	43	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCAGGTGGTTGGGCATCCGCG	0.682																																							uc003tfo.3		NA																	0				lung(1)	1						c.(127-129)CCCfs		secreted frizzled-related  protein 4 precursor							153.0	122.0	133.0					7																	37956011		2203	4300	6503	SO:0001589	frameshift_variant	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37956011delG	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.129delC	7.37:g.37956011delG	ENSP00000410715:p.Pro43fs						p.P43fs	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			1	515	-			43			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Frame_Shift_Del	DEL	ENST00000436072.2	37	c.129delC	CCDS5453.1																																																																																				0.682	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		21	73	NA	NA	NA	NA	NA	21	73	---	---	---	---
