#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	11182049	11182049	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:11182049C>G	ENST00000361445.4	-	48	6873	c.6797G>C	c.(6796-6798)cGc>cCc	p.R2266P	MTOR_ENST00000376838.1_Missense_Mutation_p.R471P	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2266	Interaction with MLST8.|PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)	p.R2266P(1)		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)	CAACATGATGCGATGCTCGAT	0.557																																							uc001asd.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(6796-6798)CGC>CCC		FK506 binding protein 12-rapamycin associated							134.0	110.0	118.0					1																	11182049		2203	4300	6503	SO:0001583	missense	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.chr1:11182049C>G	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.6797G>C	1.37:g.11182049C>G	ENSP00000354558:p.Arg2266Pro					MTOR_uc001asc.2_Missense_Mutation_p.R471P	p.R2266P	NM_004958	NP_004949	P42345	MTOR_HUMAN			48	6918	-			2266			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.6797G>C	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002580	0.93227	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.76186	-1.0;-1.0	5.58	5.58	0.84498	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.88966	0.6581	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90510	0.4480	10	0.87932	D	0	-19.3854	19.557	0.95354	0.0:1.0:0.0:0.0	.	2266	P42345	MTOR_HUMAN	P	2266;471	ENSP00000354558:R2266P;ENSP00000366034:R471P	ENSP00000354558:R2266P	R	-	2	0	MTOR	11104636	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.357000	0.79456	2.623000	0.88846	0.650000	0.86243	CGC		0.557	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		5	23	0	0	0	0.001984	0	5	23				
PRAMEF11	440560	broad.mit.edu	37	1	12884901	12884901	+	Missense_Mutation	SNP	G	G	C	rs564367901	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:12884901G>C	ENST00000535591.1	-	4	1405	c.1210C>G	c.(1210-1212)Cac>Gac	p.H404D	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	404					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H404Y(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGCCTTAAGTGCCTCACTTTC	0.502													.|||	2	0.000399361	0.0	0.0014	5008	,	,		22360	0.001		0.0	False		,,,				2504	0.0						uc001auk.2		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(1210-1212)CAC>GAC		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12884901G>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1210C>G	1.37:g.12884901G>C	ENSP00000439551:p.His404Asp						p.H404D	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			4	1406	-			404						Missense_Mutation	SNP	ENST00000535591.1	37	c.1210C>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.391990	0.00200	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.38887	1.11;1.11	1.68	-0.562	0.11781	.	1.030010	0.07704	N	0.940897	T	0.08088	0.0202	N	0.00162	-1.95	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27905	-1.0060	10	0.02654	T	1	.	4.5238	0.11971	0.0:0.2897:0.5301:0.1802	.	404	O60813	PRA11_HUMAN	D	404;445;404	ENSP00000439551:H404D;ENSP00000391839:H404D	ENSP00000328783:H445D	H	-	1	0	PRAMEF11	12807488	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.136000	0.10405	-0.608000	0.05731	-0.483000	0.04790	CAC		0.502	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		9	239	0	0	0	0.001855	0	9	239				
PRAMEF11	440560	broad.mit.edu	37	1	12884909	12884909	+	Missense_Mutation	SNP	T	T	C	rs533303641	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:12884909T>C	ENST00000535591.1	-	4	1397	c.1202A>G	c.(1201-1203)aAa>aGa	p.K401R	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	401					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GTGCCTCACTTTCTTCATCAG	0.498													.|||	6	0.00119808	0.0023	0.0014	5008	,	,		22913	0.001		0.0	False		,,,				2504	0.001						uc001auk.2		NA																	0					0						c.(1201-1203)AAA>AGA		PRAME family member 11							78.0	62.0	67.0					1																	12884909		692	1590	2282	SO:0001583	missense	440560							g.chr1:12884909T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1202A>G	1.37:g.12884909T>C	ENSP00000439551:p.Lys401Arg						p.K401R	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			4	1398	-			401						Missense_Mutation	SNP	ENST00000535591.1	37	c.1202A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.533	-0.856948	0.02630	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.45276	0.9;0.9	1.68	-3.36	0.04913	.	0.476820	0.19904	N	0.103446	T	0.07773	0.0195	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20773	-1.0265	10	0.31617	T	0.26	.	0.8166	0.01103	0.2201:0.1535:0.1448:0.4816	.	401	O60813	PRA11_HUMAN	R	401;442;401	ENSP00000439551:K401R;ENSP00000391839:K401R	ENSP00000328783:K442R	K	-	2	0	PRAMEF11	12807496	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.321000	0.02697	-3.068000	0.00254	-1.439000	0.01073	AAA		0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		9	228	0	0	0	0.001855	0	9	228				
PRAMEF11	440560	broad.mit.edu	37	1	12884937	12884937	+	Missense_Mutation	SNP	C	C	T	rs560388863	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:12884937C>T	ENST00000535591.1	-	4	1369	c.1174G>A	c.(1174-1176)Gct>Act	p.A392T	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	392					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.A392T(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTAATTTGAGCAAATCTGCTC	0.502													.|||	2	0.000399361	0.0	0.0	5008	,	,		23354	0.002		0.0	False		,,,				2504	0.0						uc001auk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1174-1176)GCT>ACT		PRAME family member 11							68.0	56.0	59.0					1																	12884937		692	1590	2282	SO:0001583	missense	440560							g.chr1:12884937C>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1174G>A	1.37:g.12884937C>T	ENSP00000439551:p.Ala392Thr						p.A392T	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			4	1370	-			392						Missense_Mutation	SNP	ENST00000535591.1	37	c.1174G>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	5.250	0.231655	0.09969	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.10192	2.9;2.9	1.76	-2.51	0.06365	.	3.806240	0.00927	N	0.002678	T	0.13756	0.0333	L	0.55213	1.73	0.09310	N	1	P	0.39352	0.669	B	0.43536	0.423	T	0.21314	-1.0249	10	0.27082	T	0.32	.	4.8941	0.13742	0.2229:0.3372:0.4399:0.0	.	392	O60813	PRA11_HUMAN	T	392;433;392	ENSP00000439551:A392T;ENSP00000391839:A392T	ENSP00000328783:A433T	A	-	1	0	PRAMEF11	12807524	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.900000	0.04097	-0.628000	0.05582	-0.693000	0.03709	GCT		0.502	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		6	228	0	0	0	0.004482	0	6	228				
PRAMEF11	440560	broad.mit.edu	37	1	12887653	12887653	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:12887653G>A	ENST00000535591.1	-	3	399	c.204C>T	c.(202-204)gtC>gtT	p.V68V		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	68					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.V68V(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGTTCTCACAGACATCCTGTA	0.448																																							uc001auk.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(202-204)GTC>GTT		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887653G>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.204C>T	1.37:g.12887653G>A							p.V68V	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			3	400	-			68						Silent	SNP	ENST00000535591.1	37	c.204C>T	CCDS53268.1																																																																																				0.448	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		27	256	0	0	0	0.002836	0	27	256				
Unknown	0	broad.mit.edu	37	1	13183415	13183415	+	IGR	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:13183415G>T								RP13-221M14.3 (18947 upstream) : PRAMEF26 (32940 downstream)																							GCCCCTTCGTGAGGTGTTTCC	0.512																																							uc010obg.1		NA																	0					0						c.(457-459)TCA>TAA		heterogeneous nuclear ribonucleoprotein C-like							85.0	62.0	69.0					1																	13183415		692	1591	2283	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183415G>T																													1.37:g.13183415G>T							p.S153*	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	553	-			153						Nonsense_Mutation	SNP		37	c.458C>A																																																																																				0	0.512									23	492	1	0	3.08376e-08	0.00333	4.37149e-08	23	492				
ZBTB17	7709	broad.mit.edu	37	1	16268907	16268907	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:16268907C>T	ENST00000375743.4	-	15	2279	c.2047G>A	c.(2047-2049)Gtg>Atg	p.V683M	ZBTB17_ENST00000375733.2_Missense_Mutation_p.V690M|ZBTB17_ENST00000537142.1_Missense_Mutation_p.V601M	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	683	Interaction with HCFC1.|Interaction with MYC.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V683M(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCTCCCACCGGCACCACT	0.642																																							uc001axl.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2047-2049)GTG>ATG		zinc finger and BTB domain containing 17							49.0	49.0	49.0					1																	16268907		2202	4300	6502	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16268907C>T	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.2047G>A	1.37:g.16268907C>T	ENSP00000364895:p.Val683Met					ZBTB17_uc010obq.1_Missense_Mutation_p.V600M|ZBTB17_uc010obr.1_Missense_Mutation_p.V690M|ZBTB17_uc010obs.1_Missense_Mutation_p.V607M	p.V683M	NM_003443	NP_003434	Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	15	2286	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	683			Interaction with MYC.|Interaction with HCFC1.		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.2047G>A	CCDS165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.49|15.49	2.848438|2.848438	0.51164|0.51164	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000440560|ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729	.|T;T;T	.|0.13420	.|3.02;2.59;3.02	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.27967|0.27967	0.0689|0.0689	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.998	.|D;D;D	.|0.85130	.|0.997;0.961;0.921	T|T	0.04347|0.04347	-1.0958|-1.0958	5|10	.|0.87932	.|D	.|0	.|.	19.0967|19.0967	0.93255|0.93255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|690;601;683	.|Q13105-2;F5H411;Q13105	.|.;.;ZBT17_HUMAN	D|M	89|683;690;602;601;239	.|ENSP00000364895:V683M;ENSP00000364885:V690M;ENSP00000438529:V601M	.|ENSP00000364881:V239M	G|V	-|-	2|1	0|0	ZBTB17|ZBTB17	16141494|16141494	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.148000|0.148000	0.21650|0.21650	7.505000|7.505000	0.81655|0.81655	2.579000|2.579000	0.87056|0.87056	0.563000|0.563000	0.77884|0.77884	GGT|GTG		0.642	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		4	29	0	0	0	0.009096	0	4	29				
KLHDC7A	127707	broad.mit.edu	37	1	18808542	18808542	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:18808542C>T	ENST00000400664.1	+	1	1119	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	356						integral component of membrane (GO:0016021)		p.S356F(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTGGCCCTCCACCCGAGGC	0.687																																							uc001bax.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1066-1068)TCC>TTC		kelch domain containing 7A							12.0	16.0	14.0					1																	18808542		2098	4189	6287	SO:0001583	missense	127707					integral to membrane		g.chr1:18808542C>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1067C>T	1.37:g.18808542C>T	ENSP00000383505:p.Ser356Phe					KLHDC7A_uc009vpg.2_Missense_Mutation_p.S138F	p.S356F	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1119	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	356			Kelch 1.		Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1067C>T	CCDS185.2	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886040	0.51908	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.74421	-0.84	5.04	2.01	0.26516	.	0.899723	0.09293	U	0.822069	T	0.61527	0.2354	N	0.22421	0.69	0.09310	N	1	D;B	0.56521	0.976;0.006	P;B	0.44732	0.459;0.003	T	0.51965	-0.8638	10	0.66056	D	0.02	.	5.4257	0.16425	0.1473:0.6309:0.1423:0.0795	.	293;356	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	F	356;293	ENSP00000383505:S356F	ENSP00000383505:S356F	S	+	2	0	KLHDC7A	18681129	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.659000	0.24994	0.132000	0.18615	0.313000	0.20887	TCC		0.687	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		3	19	0	0	0	0.004672	0	3	19				
EIF4G3	8672	broad.mit.edu	37	1	21177755	21177755	+	Missense_Mutation	SNP	C	C	A	rs34661194	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:21177755C>A	ENST00000264211.8	-	22	3794	c.3600G>T	c.(3598-3600)gaG>gaT	p.E1200D	EIF4G3_ENST00000536266.1_Missense_Mutation_p.E804D|EIF4G3_ENST00000602326.1_Missense_Mutation_p.E1206D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E1206D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E1200D|EIF4G3_ENST00000374935.3_Missense_Mutation_p.E920D|EIF4G3_ENST00000537738.1_Missense_Mutation_p.E690D	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1200					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.E1206D(1)|p.E1200D(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCTCACCTGACTCCCTTGTTT	0.443													C|||	13	0.00259585	0.0091	0.0014	5008	,	,		17888	0.0		0.0	False		,,,				2504	0.0						uc001bec.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(3598-3600)GAG>GAT		eukaryotic translation initiation factor 4		C	ASP/GLU,ASP/GLU,ASP/GLU	51,4355	52.3+/-87.9	0,51,2152	145.0	130.0	135.0		3708,3618,3600	3.7	1.0	1	dbSNP_126	135	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	EIF4G3	NM_001198801.1,NM_001198802.1,NM_003760.4	45,45,45	0,52,6451	AA,AC,CC		0.0116,1.1575,0.3998	benign,benign,benign	1236/1622,1206/1592,1200/1586	21177755	52,12954	2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21177755C>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3600G>T	1.37:g.21177755C>A	ENSP00000264211:p.Glu1200Asp					EIF4G3_uc010odi.1_Missense_Mutation_p.E804D|EIF4G3_uc010odj.1_Missense_Mutation_p.E1199D|EIF4G3_uc009vpz.2_Missense_Mutation_p.E920D|EIF4G3_uc001bed.2_Missense_Mutation_p.E1200D|EIF4G3_uc001bef.2_Missense_Mutation_p.E1236D|EIF4G3_uc001bee.2_Missense_Mutation_p.E1206D	p.E1200D	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	23	3856	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1200					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.3600G>T	CCDS214.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	15.35	2.807927	0.50421	0.011575	1.16E-4	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.08102	3.63;3.63;3.49;3.13;3.63;3.33	5.73	3.71	0.42584	.	0.110931	0.64402	D	0.000011	T	0.02970	0.0088	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B	0.27068	0.167;0.004;0.001;0.015;0.02	B;B;B;B;B	0.22152	0.038;0.003;0.003;0.01;0.01	T	0.42865	-0.9426	10	0.11485	T	0.65	-17.93	10.8675	0.46864	0.0:0.6871:0.2449:0.0679	rs34661194	1395;920;804;1206;1200	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	D	1200;1396;1200;920;690;1206;804	ENSP00000264211:E1200D;ENSP00000383274:E1200D;ENSP00000364071:E920D;ENSP00000442010:E690D;ENSP00000364073:E1206D;ENSP00000444693:E804D	ENSP00000264211:E1200D	E	-	3	2	EIF4G3	21050342	0.238000	0.23825	1.000000	0.80357	0.866000	0.49608	0.575000	0.23729	1.391000	0.46566	0.591000	0.81541	GAG		0.443	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		10	73	1	0	7.48243e-07	0.006214	1.00996e-06	10	73				
CEP85	64793	broad.mit.edu	37	1	26581979	26581979	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:26581979G>C	ENST00000252992.4	+	4	657	c.526G>C	c.(526-528)Gcg>Ccg	p.A176P	CEP85_ENST00000451429.2_Missense_Mutation_p.A125P	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	176						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)		p.A176P(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						ACAAGAAGAGGCGAGGAAGTT	0.468																																							uc001bls.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(526-528)GCG>CCG		coiled-coil domain containing 21							86.0	84.0	85.0					1																	26581979		2203	4300	6503	SO:0001583	missense	64793					centrosome|nucleolus|spindle pole		g.chr1:26581979G>C	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.526G>C	1.37:g.26581979G>C	ENSP00000252992:p.Ala176Pro					CCDC21_uc001blr.2_Missense_Mutation_p.A176P|CCDC21_uc010ofa.1_Missense_Mutation_p.A125P	p.A176P	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649)	4	657	+		all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966)	176					B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	ENST00000252992.4	37	c.526G>C	CCDS277.1	.	.	.	.	.	.	.	.	.	.	G	5.074	0.199261	0.09652	.	.	ENSG00000130695	ENST00000451429;ENST00000252992	T;T	0.14766	2.48;2.7	5.43	-2.48	0.06423	.	1.267330	0.04842	N	0.440673	T	0.09774	0.0240	N	0.14661	0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.001;0.001;0.004	T	0.41752	-0.9491	10	0.51188	T	0.08	0.0703	12.8337	0.57761	0.7423:0.0:0.2577:0.0	.	125;176;176	F8W7K4;Q6P2H3;Q6P2H3-2	.;CEP85_HUMAN;.	P	125;176	ENSP00000417002:A125P;ENSP00000252992:A176P	ENSP00000252992:A176P	A	+	1	0	CEP85	26454566	0.000000	0.05858	0.137000	0.22149	0.413000	0.31143	-0.262000	0.08682	-0.253000	0.09514	0.655000	0.94253	GCG		0.468	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		5	72	0	0	0	0.000602	0	5	72				
RCC1	1104	broad.mit.edu	37	1	28862433	28862433	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:28862433G>T	ENST00000373833.6	+	10	997	c.712G>T	c.(712-714)Ggc>Tgc	p.G238C	RCC1_ENST00000373831.3_Missense_Mutation_p.G269C|RCC1_ENST00000398958.2_Missense_Mutation_p.G238C|RCC1_ENST00000373832.1_Missense_Mutation_p.G238C			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	238					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.G238C(1)|p.G269C(1)		breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAAGCCGGGGCCACGTGAG	0.562																																							uc001bqg.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(712-714)GGC>TGC		regulator of chromosome condensation 1 isoform							190.0	166.0	174.0					1																	28862433		2203	4300	6503	SO:0001583	missense	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28862433G>T	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.712G>T	1.37:g.28862433G>T	ENSP00000362939:p.Gly238Cys					SNHG3-RCC1_uc001bqa.1_Missense_Mutation_p.G238C|SNHG3-RCC1_uc001bqb.1_Missense_Mutation_p.G238C|SNHG3-RCC1_uc001bqc.1_Missense_Mutation_p.G238C|RCC1_uc001bqe.1_Missense_Mutation_p.G255C|RCC1_uc001bqf.1_Missense_Mutation_p.G269C	p.G238C	NM_001269	NP_001260	P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	7	797	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	238			RCC1 4.		Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	c.712G>T	CCDS323.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276824	0.80580	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000419074;ENST00000373832;ENST00000373831;ENST00000411533;ENST00000430407	T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.56	5.56	0.83823	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.195928	0.53938	D	0.000049	D	0.87172	0.6111	M	0.78049	2.395	0.49389	D	0.999785	D;D;D	0.71674	0.991;0.998;0.998	P;P;P	0.60173	0.787;0.87;0.826	D	0.86867	0.2033	9	.	.	.	-5.3861	12.4176	0.55502	0.0799:0.0:0.9201:0.0	.	269;255;238	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	C	238;238;238;238;269;255;238	ENSP00000381931:G238C;ENSP00000362939:G238C;ENSP00000402260:G238C;ENSP00000362938:G238C;ENSP00000362937:G269C;ENSP00000413644:G255C;ENSP00000394650:G238C	.	G	+	1	0	RCC1	28735020	1.000000	0.71417	0.976000	0.42696	0.980000	0.70556	3.040000	0.49799	2.890000	0.99128	0.655000	0.94253	GGC		0.562	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		12	91	1	0	5.50884e-06	0.001368	7.21985e-06	12	91				
ADPRHL2	54936	broad.mit.edu	37	1	36558117	36558117	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:36558117G>C	ENST00000373178.4	+	5	826	c.796G>C	c.(796-798)Gag>Cag	p.E266Q		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	266						mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.E266Q(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				AGTGGTGTCTGAGCTAGGTGA	0.597																																							uc001bzt.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(796-798)GAG>CAG		ADP-ribosylhydrolase like 2							189.0	198.0	195.0					1																	36558117		2203	4300	6503	SO:0001583	missense	54936					cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity	g.chr1:36558117G>C	AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863			21304	protein-coding gene	gene with protein product		610624				12070318, 16278211	Standard	NM_017825		Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.796G>C	1.37:g.36558117G>C	ENSP00000362273:p.Glu266Gln					ADPRHL2_uc001bzu.2_Missense_Mutation_p.E112Q	p.E266Q	NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN			5	849	+		Myeloproliferative disorder(586;0.0393)	266					Q53G94|Q6IAB8|Q9BY47	Missense_Mutation	SNP	ENST00000373178.4	37	c.796G>C	CCDS402.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837093	0.50951	.	.	ENSG00000116863	ENST00000373178;ENST00000540867;ENST00000543954	T	0.30182	1.54	5.61	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.24122	0.0584	L	0.35644	1.08	0.54753	D	0.999983	B	0.27625	0.183	B	0.25884	0.064	T	0.03608	-1.1020	10	0.18276	T	0.48	-12.2066	14.0315	0.64617	0.0731:0.0:0.9269:0.0	.	266	Q9NX46	ARHL2_HUMAN	Q	266;186;112	ENSP00000362273:E266Q	ENSP00000362273:E266Q	E	+	1	0	ADPRHL2	36330704	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	5.595000	0.67563	1.364000	0.46038	0.650000	0.86243	GAG		0.597	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020199.1	NM_017825		3	37	0	0	0	0.000602	0	3	37				
MAP7D1	55700	broad.mit.edu	37	1	36640515	36640515	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:36640515C>T	ENST00000373151.2	+	6	972	c.756C>T	c.(754-756)tcC>tcT	p.S252S	MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000316156.4_Intron|MAP7D1_ENST00000373150.4_Silent_p.S252S|MAP7D1_ENST00000474796.1_3'UTR	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	252					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)		p.S252S(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCAGGTGCTCCGTGTCGGCAG	0.607																																							uc001bzz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)	5						c.(754-756)TCC>TCT		MAP7 domain containing 1							55.0	55.0	55.0					1																	36640515		2203	4300	6503	SO:0001819	synonymous_variant	55700					cytoplasm|spindle		g.chr1:36640515C>T	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.756C>T	1.37:g.36640515C>T						MAP7D1_uc001caa.2_Silent_p.S252S|MAP7D1_uc001cab.2_Intron|MAP7D1_uc001cac.2_5'UTR|MAP7D1_uc001cad.2_5'Flank	p.S252S	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN			6	972	+		Myeloproliferative disorder(586;0.0393)	252					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Silent	SNP	ENST00000373151.2	37	c.756C>T	CCDS30673.1																																																																																				0.607	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		3	28	0	0	0	0.004672	0	3	28				
THRAP3	9967	broad.mit.edu	37	1	36754772	36754772	+	Silent	SNP	T	T	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:36754772T>G	ENST00000354618.5	+	5	1376	c.1152T>G	c.(1150-1152)ggT>ggG	p.G384G	THRAP3_ENST00000469141.2_Silent_p.G384G	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	384	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGGCTTGGGTGATGGAAAAA	0.403			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	Pancreas(129;785 1795 20938 23278 32581)	uc001cae.3		NA		Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				ovary(5)|lung(3)|breast(1)	9						c.(1150-1152)GGT>GGG		thyroid hormone receptor associated protein 3							59.0	65.0	63.0					1																	36754772		2203	4300	6503	SO:0001819	synonymous_variant	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36754772T>G	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1152T>G	1.37:g.36754772T>G						THRAP3_uc001caf.3_Silent_p.G384G|THRAP3_uc001cag.1_Silent_p.G384G	p.G384G	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN			5	1376	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	384					D3DPS5|Q5VTK6	Silent	SNP	ENST00000354618.5	37	c.1152T>G	CCDS405.1																																																																																				0.403	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		6	81	0	0	0	0.004007	0	6	81				
ZMPSTE24	10269	broad.mit.edu	37	1	40758302	40758302	+	Silent	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:40758302A>G	ENST00000372759.3	+	10	1554	c.1389A>G	c.(1387-1389)ctA>ctG	p.L463L		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	463					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)	p.L463L(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CTCCACTGCTAGAGAGACTTC	0.393																																							uc001cfg.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1387-1389)CTA>CTG		zinc metallopeptidase STE24							101.0	102.0	102.0					1																	40758302		2203	4300	6503	SO:0001819	synonymous_variant	10269					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	g.chr1:40758302A>G	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.1389A>G	1.37:g.40758302A>G							p.L463L	NM_005857	NP_005848	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		10	1600	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	463					B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Silent	SNP	ENST00000372759.3	37	c.1389A>G	CCDS449.1																																																																																				0.393	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			3	101	0	0	0	0.004672	0	3	101				
SLFNL1	200172	broad.mit.edu	37	1	41486213	41486213	+	Silent	SNP	G	G	C	rs146820397	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:41486213G>C	ENST00000359345.1	-	1	2696	c.120C>G	c.(118-120)ctC>ctG	p.L40L	SLFNL1_ENST00000372611.1_Silent_p.L40L|SLFNL1_ENST00000397197.2_Silent_p.L40L|SLFNL1_ENST00000439569.2_Silent_p.L40L|SLFNL1_ENST00000302946.8_Silent_p.L40L|SLFNL1_ENST00000372613.2_Silent_p.L40L	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	40							ATP binding (GO:0005524)	p.L40L(1)		endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GAGCCTCCTCGAGGTCAGAGT	0.637																																							uc001cgm.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(118-120)CTC>CTG		schlafen-like 1							51.0	54.0	53.0					1																	41486213		2203	4300	6503	SO:0001819	synonymous_variant	200172						ATP binding	g.chr1:41486213G>C	BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.120C>G	1.37:g.41486213G>C						SLFNL1_uc009vwf.1_Silent_p.L40L|SLFNL1_uc001cgn.1_Silent_p.L40L|SLFNL1_uc009vwg.1_Silent_p.L40L	p.L40L	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN			2	340	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)	40					A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Silent	SNP	ENST00000359345.1	37	c.120C>G	CCDS460.1																																																																																				0.637	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		12	71	0	0	0	0.000978	0	12	71				
CCDC30	728621	broad.mit.edu	37	1	43119529	43119529	+	Nonsense_Mutation	SNP	C	C	T	rs374025260		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:43119529C>T	ENST00000340612.4	+	15	2182	c.2182C>T	c.(2182-2184)Caa>Taa	p.Q728*	CCDC30_ENST00000390640.4_Nonsense_Mutation_p.Q517*|CCDC30_ENST00000428554.2_Nonsense_Mutation_p.Q728*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.Q517*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.Q728*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	728						extracellular vesicular exosome (GO:0070062)		p.Q728*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TGCAAGTCTTCAAGAGACTGA	0.418																																							uc009vwk.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(2182-2184)CAA>TAA		coiled-coil domain containing 30		C	stop/GLN	1,4405	2.1+/-5.4	0,1,2202	70.0	70.0	70.0		2182	2.0	0.0	1		70	0,8600		0,0,4300	no	stop-gained	CCDC30	NM_001080850.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		728/784	43119529	1,13005	2203	4300	6503	SO:0001587	stop_gained	728621							g.chr1:43119529C>T	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.2182C>T	1.37:g.43119529C>T	ENSP00000340378:p.Gln728*					CCDC30_uc001chm.2_Nonsense_Mutation_p.Q426*|CCDC30_uc001chn.2_Nonsense_Mutation_p.Q517*	p.Q728*	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN			16	2292	+			728					Q14F06|Q5VVM5	Nonsense_Mutation	SNP	ENST00000340612.4	37	c.2182C>T	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322792	0.23994	2.27E-4	0.0	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	5.32	2.0	0.26442	.	0.225617	0.30244	N	0.010073	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	2.4359	0.04483	0.2426:0.4963:0.1566:0.1046	.	.	.	.	X	728;517;728;728;517	.	ENSP00000340378:Q728X	Q	+	1	0	CCDC30	42892116	0.834000	0.29399	0.045000	0.18777	0.089000	0.18198	0.650000	0.24858	0.572000	0.29383	0.563000	0.77884	CAA		0.418	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		5	62	0	0	0	0.001168	0	5	62				
CCDC30	728621	broad.mit.edu	37	1	43119551	43119551	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:43119551C>G	ENST00000340612.4	+	15	2204	c.2204C>G	c.(2203-2205)tCa>tGa	p.S735*	CCDC30_ENST00000390640.4_Nonsense_Mutation_p.S524*|CCDC30_ENST00000428554.2_Nonsense_Mutation_p.S735*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.S524*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.S735*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	735						extracellular vesicular exosome (GO:0070062)		p.S735*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAGATCAAGTCAAAAGAAGCA	0.398																																							uc009vwk.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(2203-2205)TCA>TGA		coiled-coil domain containing 30							78.0	78.0	78.0					1																	43119551		2203	4300	6503	SO:0001587	stop_gained	728621							g.chr1:43119551C>G	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.2204C>G	1.37:g.43119551C>G	ENSP00000340378:p.Ser735*					CCDC30_uc001chm.2_Nonsense_Mutation_p.S433*|CCDC30_uc001chn.2_Nonsense_Mutation_p.S524*	p.S735*	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN			16	2314	+			735					Q14F06|Q5VVM5	Nonsense_Mutation	SNP	ENST00000340612.4	37	c.2204C>G	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	9.967	1.224413	0.22457	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	5.53	2.62	0.31277	.	0.522194	0.17648	N	0.166780	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.0509	0.19785	0.0:0.675:0.1545:0.1705	.	.	.	.	X	735;524;735;735;524	.	ENSP00000340378:S735X	S	+	2	0	CCDC30	42892138	0.003000	0.15002	0.003000	0.11579	0.019000	0.09904	1.038000	0.30254	0.283000	0.22279	0.655000	0.94253	TCA		0.398	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		6	61	0	0	0	0.00308	0	6	61				
LEPRE1	64175	broad.mit.edu	37	1	43215927	43215927	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:43215927C>T	ENST00000296388.5	-	11	1701	c.1650G>A	c.(1648-1650)gaG>gaA	p.E550E	LEPRE1_ENST00000462474.1_5'Flank|LEPRE1_ENST00000397054.3_Silent_p.E550E|LEPRE1_ENST00000236040.4_Silent_p.E550E			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	550					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.E550E(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGAAGTAGGACTCCATGATGC	0.587																																							uc001chv.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)	4						c.(1648-1650)GAG>GAA		leprecan 1 isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						141.0	114.0	123.0					1																	43215927		2203	4300	6503	SO:0001819	synonymous_variant	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43215927C>T	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1650G>A	1.37:g.43215927C>T						LEPRE1_uc001chw.2_Silent_p.E550E|LEPRE1_uc001chx.3_Silent_p.E550E	p.E550E	NM_022356	NP_071751	Q32P28	P3H1_HUMAN			11	1763	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	550					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Silent	SNP	ENST00000296388.5	37	c.1650G>A	CCDS472.2																																																																																				0.587	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		4	12	0	0	0	0.009096	0	4	12				
INADL	10207	broad.mit.edu	37	1	62237296	62237296	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:62237296A>G	ENST00000371158.2	+	6	832	c.718A>G	c.(718-720)Aca>Gca	p.T240A	INADL_ENST00000316485.6_Missense_Mutation_p.T240A	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	240					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.T240A(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCTGCCTGAAACAGTGAGTTG	0.373																																							uc001dab.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(718-720)ACA>GCA		InaD-like							69.0	63.0	65.0					1																	62237296		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62237296A>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.718A>G	1.37:g.62237296A>G	ENSP00000360200:p.Thr240Ala					INADL_uc009waf.1_Missense_Mutation_p.T240A|INADL_uc001daa.2_Missense_Mutation_p.T240A|INADL_uc001dad.3_5'UTR	p.T240A	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			6	832	+			240					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.718A>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	10.20	1.285243	0.23478	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.16324	2.35;2.35	4.6	4.6	0.57074	PDZ/DHR/GLGF (1);	0.079255	0.46442	D	0.000300	T	0.15739	0.0379	L	0.59436	1.845	0.80722	D	1	P;B;B	0.38827	0.649;0.278;0.452	B;B;B	0.36567	0.228;0.084;0.228	T	0.03175	-1.1064	10	0.07644	T	0.81	.	12.5652	0.56306	1.0:0.0:0.0:0.0	.	240;240;240	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	A	240	ENSP00000360200:T240A;ENSP00000326199:T240A	ENSP00000255202:T240A	T	+	1	0	INADL	62009884	0.605000	0.26941	1.000000	0.80357	0.804000	0.45430	3.173000	0.50839	1.716000	0.51395	0.377000	0.23210	ACA		0.373	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		3	30	0	0	0	0.004672	0	3	30				
DNAJC6	9829	broad.mit.edu	37	1	65864515	65864515	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:65864515G>A	ENST00000395325.3	+	14	2044	c.1887G>A	c.(1885-1887)gtG>gtA	p.V629V	DNAJC6_ENST00000371069.4_Silent_p.V686V|DNAJC6_ENST00000263441.7_Silent_p.V616V	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	629	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.V629V(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CGCCTGCTGTGAACATTCAGC	0.403																																							uc001dcd.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(1885-1887)GTG>GTA		DnaJ (Hsp40) homolog, subfamily C, member 6							172.0	154.0	160.0					1																	65864515		2203	4300	6503	SO:0001819	synonymous_variant	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65864515G>A	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1887G>A	1.37:g.65864515G>A						DNAJC6_uc010opc.1_Silent_p.V616V|DNAJC6_uc001dce.1_Silent_p.V686V	p.V629V	NM_014787	NP_055602	O75061	AUXI_HUMAN			14	2051	+			629			Pro-rich.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	c.1887G>A	CCDS30739.1																																																																																				0.403	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			5	66	0	0	0	0.001168	0	5	66				
SGIP1	84251	broad.mit.edu	37	1	67147924	67147924	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:67147924C>A	ENST00000371037.4	+	15	1264	c.1187C>A	c.(1186-1188)aCa>aAa	p.T396K	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.T400K|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371039.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	396	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.T396K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TACTTAGAAACAATCTCATCT	0.507																																							uc001dcr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1186-1188)ACA>AAA		SH3-domain GRB2-like (endophilin) interacting							78.0	88.0	84.0					1																	67147924		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147924C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1187C>A	1.37:g.67147924C>A	ENSP00000360076:p.Thr396Lys					SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.T163K	p.T396K	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			15	1404	+			396			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1187C>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232210	0.58777	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.03386	3.95;3.95	5.19	5.19	0.71726	.	0.196920	0.40908	D	0.000981	T	0.01489	0.0048	L	0.36672	1.1	0.80722	D	1	P;B	0.36282	0.546;0.023	B;B	0.26770	0.073;0.01	T	0.57027	-0.7881	10	0.12103	T	0.63	-11.9894	19.0749	0.93156	0.0:1.0:0.0:0.0	.	399;396	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	K	400;399;399;396	ENSP00000237247:T400K;ENSP00000360076:T396K	ENSP00000237247:T400K	T	+	2	0	SGIP1	66920512	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.125000	0.57931	2.570000	0.86706	0.455000	0.32223	ACA		0.507	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		18	130	1	0	1.33834e-09	0.007413	1.97148e-09	18	130				
LRRC40	55631	broad.mit.edu	37	1	70654875	70654875	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:70654875C>A	ENST00000370952.3	-	2	312	c.233G>T	c.(232-234)tGg>tTg	p.W78L		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	78						membrane (GO:0016020)		p.W78L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CTGCTCCCACCATCTTTCAGT	0.433																																							uc001der.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(232-234)TGG>TTG		leucine rich repeat containing 40							197.0	177.0	183.0					1																	70654875		2203	4300	6503	SO:0001583	missense	55631							g.chr1:70654875C>A		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.233G>T	1.37:g.70654875C>A	ENSP00000359990:p.Trp78Leu						p.W78L	NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN			2	285	-			78					Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	c.233G>T	CCDS646.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963136	0.92791	.	.	ENSG00000066557	ENST00000370952	T	0.17213	2.29	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.31765	0.0807	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.43147	-0.9409	10	0.02654	T	1	.	19.3509	0.94384	0.0:1.0:0.0:0.0	.	78	Q9H9A6	LRC40_HUMAN	L	78	ENSP00000359990:W78L	ENSP00000359990:W78L	W	-	2	0	LRRC40	70427463	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.227000	0.78070	2.656000	0.90262	0.655000	0.94253	TGG		0.433	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		6	95	1	0	5.18039e-06	0.00308	6.79926e-06	6	95				
ZZZ3	26009	broad.mit.edu	37	1	78098439	78098439	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:78098439C>A	ENST00000370801.3	-	5	1076	c.601G>T	c.(601-603)Gct>Tct	p.A201S	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	201					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A201S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCATTGACAGCCAAATAGCCT	0.393																																							uc001dhq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(601-603)GCT>TCT		zinc finger, ZZ-type containing 3							107.0	107.0	107.0					1																	78098439		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098439C>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.601G>T	1.37:g.78098439C>A	ENSP00000359837:p.Ala201Ser					ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.A201S|ZZZ3_uc001dhp.2_Missense_Mutation_p.A201S	p.A201S	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			5	1077	-			201					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.601G>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529766	0.27387	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.49	0.686	0.18015	.	0.411478	0.27482	N	0.019164	T	0.19287	0.0463	L	0.29908	0.895	0.80722	D	1	B;B;B	0.12013	0.005;0.0;0.001	B;B;B	0.17979	0.02;0.001;0.002	T	0.06391	-1.0829	8	.	.	.	.	5.9722	0.19359	0.1346:0.305:0.0:0.5604	.	201;201;201	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	S	201	.	.	A	-	1	0	ZZZ3	77871027	0.996000	0.38824	0.996000	0.52242	0.994000	0.84299	0.382000	0.20635	-0.069000	0.12931	0.650000	0.86243	GCT		0.393	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		23	112	1	0	3.83957e-06	0.00278	5.06891e-06	23	112				
CLCA2	9635	broad.mit.edu	37	1	86890087	86890087	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:86890087G>C	ENST00000370565.4	+	1	319	c.157G>C	c.(157-159)Gag>Cag	p.E53Q		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	53					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.E53Q(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCAGGTACCTGAGAATCAGAA	0.408																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(157-159)GAG>CAG		chloride channel accessory 2 precursor							72.0	65.0	68.0					1																	86890087		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86890087G>C		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.157G>C	1.37:g.86890087G>C	ENSP00000359596:p.Glu53Gln						p.E53Q	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	1	319	+		Lung NSC(277;0.238)	53			Extracellular (Potential).		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.157G>C	CCDS708.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481115	0.84747	.	.	ENSG00000137975	ENST00000370565;ENST00000439777	T	0.20463	2.07	5.87	5.87	0.94306	Chloride channel calcium-activated (1);	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	M	0.78637	2.42	0.49213	D	0.999767	D	0.89917	1.0	D	0.91635	0.999	T	0.27571	-1.0070	10	0.54805	T	0.06	-22.675	18.9798	0.92751	0.0:0.0:1.0:0.0	.	53	Q9UQC9	CLCA2_HUMAN	Q	53	ENSP00000359596:E53Q	ENSP00000359596:E53Q	E	+	1	0	CLCA2	86662675	1.000000	0.71417	0.872000	0.34217	0.789000	0.44602	6.163000	0.71880	2.774000	0.95407	0.650000	0.86243	GAG		0.408	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		3	58	0	0	0	0.004672	0	3	58				
CLCA4	22802	broad.mit.edu	37	1	87040315	87040315	+	Silent	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:87040315C>G	ENST00000370563.3	+	10	1602	c.1560C>G	c.(1558-1560)ctC>ctG	p.L520L	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	520					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.L520L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CGTTCTTTCTCATCACATGGA	0.418																																							uc009wcs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1558-1560)CTC>CTG		chloride channel accessory 4							100.0	96.0	97.0					1																	87040315		1913	4124	6037	SO:0001819	synonymous_variant	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87040315C>G	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1560C>G	1.37:g.87040315C>G						CLCA4_uc009wct.2_Silent_p.L283L|CLCA4_uc009wcu.2_Silent_p.L340L	p.L520L	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	10	1604	+		Lung NSC(277;0.238)	520					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	c.1560C>G	CCDS41355.1																																																																																				0.418	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		17	78	0	0	0	0.006122	0	17	78				
BARHL2	343472	broad.mit.edu	37	1	91182622	91182622	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:91182622C>G	ENST00000370445.4	-	1	172	c.131G>C	c.(130-132)aGg>aCg	p.R44T		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	44					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.R44T(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GGCCTGACTCCTAAAATCCGC	0.577																																					GBM(199;3561 4100 22440)	GBM(199;3561 4100 22440)	uc001dns.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(130-132)AGG>ACG		BarH-like homeobox 2							86.0	94.0	91.0					1																	91182622		2203	4300	6503	SO:0001583	missense	343472					nucleus	sequence-specific DNA binding	g.chr1:91182622C>G	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.131G>C	1.37:g.91182622C>G	ENSP00000359474:p.Arg44Thr						p.R44T	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	173	-		all_lung(203;0.0263)|Lung SC(238;0.128)	44					A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	c.131G>C	CCDS730.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148943	0.94645	.	.	ENSG00000143032	ENST00000370445	D	0.94000	-3.33	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.92331	0.7567	N	0.14661	0.345	0.58432	D	0.999998	D	0.57899	0.981	D	0.69824	0.966	D	0.94067	0.7332	10	0.72032	D	0.01	.	17.8151	0.88630	0.0:1.0:0.0:0.0	.	44	Q9NY43	BARH2_HUMAN	T	44	ENSP00000359474:R44T	ENSP00000359474:R44T	R	-	2	0	BARHL2	90955210	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.779000	0.75057	2.810000	0.96702	0.650000	0.86243	AGG		0.577	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			6	101	0	0	0	0.001168	0	6	101				
HFM1	164045	broad.mit.edu	37	1	91742270	91742270	+	Missense_Mutation	SNP	A	A	G	rs540774438		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:91742270A>G	ENST00000370425.3	-	32	3601	c.3503T>C	c.(3502-3504)aTt>aCt	p.I1168T	HFM1_ENST00000370424.3_Missense_Mutation_p.I847T|HFM1_ENST00000294696.5_Missense_Mutation_p.I400T|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1168					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.I1168T(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGACTCTTTAATTTCTGACTT	0.294																																							uc001doa.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3502-3504)ATT>ACT		HFM1 protein							46.0	47.0	47.0					1																	91742270		2202	4289	6491	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91742270A>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3503T>C	1.37:g.91742270A>G	ENSP00000359454:p.Ile1168Thr					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.I847T|HFM1_uc001dob.3_Missense_Mutation_p.I356T|HFM1_uc010osv.1_Missense_Mutation_p.I852T	p.I1168T	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	32	3603	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1168					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3503T>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	7.204	0.594041	0.13875	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424	T;T;T	0.62941	0.35;0.67;-0.01	5.41	-1.01	0.10169	.	1.661780	0.03211	N	0.176257	T	0.12944	0.0314	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.05162	-1.0902	10	0.13470	T	0.59	.	5.3787	0.16179	0.537:0.1444:0.3186:0.0	.	847;379;1168	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	T	1168;400;847	ENSP00000359454:I1168T;ENSP00000294696:I400T;ENSP00000359453:I847T	ENSP00000294696:I400T	I	-	2	0	HFM1	91514858	0.010000	0.17322	0.127000	0.21898	0.703000	0.40648	1.320000	0.33666	-0.196000	0.10366	0.528000	0.53228	ATT		0.294	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		3	12	0	0	0	0.009096	0	3	12				
ABCD3	5825	broad.mit.edu	37	1	94982646	94982646	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:94982646C>G	ENST00000370214.4	+	23	1965	c.1941C>G	c.(1939-1941)ttC>ttG	p.F647L	ABCD3_ENST00000536817.1_Missense_Mutation_p.F574L|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Missense_Mutation_p.F537L|ABCD3_ENST00000454898.2_Missense_Mutation_p.F671L	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	647	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.F647L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ACTATGAATTCAAACAGATAA	0.358																																							uc001dqn.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1939-1941)TTC>TTG		ATP-binding cassette, sub-family D, member 3							145.0	149.0	147.0					1																	94982646		2203	4299	6502	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94982646C>G	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1941C>G	1.37:g.94982646C>G	ENSP00000359233:p.Phe647Leu					ABCD3_uc010oto.1_Missense_Mutation_p.F671L|ABCD3_uc010otp.1_Missense_Mutation_p.F574L|ABCD3_uc009wdr.2_Missense_Mutation_p.F537L|ABCD3_uc001dqo.3_Missense_Mutation_p.F335L	p.F647L	NM_002858	NP_002849	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	23	2043	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	647			ABC transporter.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.1941C>G	CCDS749.1	.	.	.	.	.	.	.	.	.	.	c	19.90	3.912635	0.72983	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.94046	-3.18;-3.31;-3.26;-3.34	5.51	3.53	0.40419	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.89701	0.6791	N	0.16602	0.42	0.58432	D	0.999999	P;P;P	0.52577	0.697;0.954;0.773	B;D;P	0.66351	0.411;0.943;0.53	D	0.90463	0.4447	10	0.62326	D	0.03	-14.1088	10.9147	0.47129	0.0:0.8383:0.0:0.1617	.	671;537;647	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	L	537;671;574;647	ENSP00000377780:F537L;ENSP00000403357:F671L;ENSP00000440692:F574L;ENSP00000359233:F647L	ENSP00000359233:F647L	F	+	3	2	ABCD3	94755234	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.336000	0.52113	0.590000	0.29694	0.651000	0.88453	TTC		0.358	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		21	73	0	0	0	0.001882	0	21	73				
AGL	178	broad.mit.edu	37	1	100345510	100345510	+	Missense_Mutation	SNP	C	C	T	rs372776426		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:100345510C>T	ENST00000294724.4	+	13	2121	c.1643C>T	c.(1642-1644)cCc>cTc	p.P548L	AGL_ENST00000370161.2_Missense_Mutation_p.P532L|AGL_ENST00000361522.4_Missense_Mutation_p.P531L|AGL_ENST00000370163.3_Missense_Mutation_p.P548L|AGL_ENST00000370165.3_Missense_Mutation_p.P548L|AGL_ENST00000361302.3_Missense_Mutation_p.P532L|AGL_ENST00000361915.3_Missense_Mutation_p.P548L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	548					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.P548L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AATTTGCAACCCAATTTATAT	0.373																																							uc001dsi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1642-1644)CCC>CTC		amylo-1,6-glucosidase,							184.0	167.0	173.0					1																	100345510		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100345510C>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.1643C>T	1.37:g.100345510C>T	ENSP00000294724:p.Pro548Leu					AGL_uc001dsj.1_Missense_Mutation_p.P548L|AGL_uc001dsk.1_Missense_Mutation_p.P548L|AGL_uc001dsl.1_Missense_Mutation_p.P548L|AGL_uc001dsm.1_Missense_Mutation_p.P532L|AGL_uc001dsn.1_Missense_Mutation_p.P531L	p.P548L	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	13	2043	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	548			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.1643C>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558981	0.86231	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.56	5.56	0.83823	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.054128	0.85682	D	0.000000	D	0.95385	0.8502	M	0.91196	3.185	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.987	D;D;P	0.67900	0.954;0.954;0.901	D	0.95820	0.8849	10	0.87932	D	0	-16.1449	19.5334	0.95239	0.0:1.0:0.0:0.0	.	531;532;548	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	L	548;548;548;548;532;532;531	ENSP00000355106:P548L;ENSP00000359184:P548L;ENSP00000359182:P548L;ENSP00000294724:P548L;ENSP00000354971:P532L;ENSP00000359180:P532L;ENSP00000354635:P531L	ENSP00000294724:P548L	P	+	2	0	AGL	100118098	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.417000	0.80156	2.616000	0.88540	0.650000	0.86243	CCC		0.373	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		3	88	0	0	0	0.009096	0	3	88				
RTCA	8634	broad.mit.edu	37	1	100732078	100732078	+	Splice_Site	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:100732078A>T	ENST00000370128.4	+	2	214		c.e2-1		RP11-305E17.6_ENST00000421185.1_RNA|RTCA_ENST00000260563.4_Splice_Site|RTCA_ENST00000370126.1_Splice_Site|RTCA_ENST00000498617.1_Splice_Site	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase						RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)	p.?(1)									CAACCTTTGCAGGGCGGCCAG	0.632																																							uc001dtc.2		NA																	1	Unknown(1)		lung(1)		0						c.e2-2		RNA terminal phosphate cyclase domain 1 isoform							41.0	37.0	38.0					1																	100732078		2203	4300	6503	SO:0001630	splice_region_variant	8634				RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity	g.chr1:100732078A>T	Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"""RTC domain containing 1"", ""RNA terminal phosphate cyclase domain 1"""	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.46-1A>T	1.37:g.100732078A>T						RTCD1_uc010ouh.1_Splice_Site_p.G16_splice|RTCD1_uc001dtd.2_Splice_Site_p.G16_splice	p.G16_splice	NM_003729	NP_003720	O00442	RTC1_HUMAN		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	2	264	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)						Q5VVL5|Q5VVL6|Q96E99	Splice_Site	SNP	ENST00000370128.4	37	c.46_splice	CCDS768.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.174966	0.57692	.	.	ENSG00000137996	ENST00000370128;ENST00000260563;ENST00000370126	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5252	0.67884	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RTCD1	100504666	1.000000	0.71417	0.958000	0.39756	0.490000	0.33462	8.320000	0.89995	2.008000	0.58898	0.460000	0.39030	.		0.632	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2		Intron	6	36	0	0	0	0.001168	0	6	36				
S1PR1	1901	broad.mit.edu	37	1	101704852	101704852	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:101704852G>T	ENST00000305352.6	+	2	687	c.312G>T	c.(310-312)ttG>ttT	p.L104F	S1PR1_ENST00000475821.1_3'UTR|RP4-575N6.4_ENST00000432195.1_RNA	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	104					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.L104F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ACCTGCTCTTGTCTGGGGCCA	0.547											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001dud.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(310-312)TTG>TTT		sphingosine-1-phosphate receptor 1							63.0	62.0	63.0					1																	101704852		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101704852G>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.312G>T	1.37:g.101704852G>T	ENSP00000305416:p.Leu104Phe		OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_uc009weg.2_Missense_Mutation_p.L104F	p.L104F	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	826	+			104			Helical; Name=2; (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.312G>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	G	7.449	0.642348	0.14451	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.73469	-0.75	5.78	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.59878	0.2226	L	0.52823	1.66	0.80722	D	1	B	0.26041	0.14	B	0.37346	0.247	T	0.64914	-0.6295	10	0.52906	T	0.07	.	8.4294	0.32748	0.0637:0.3128:0.524:0.0995	.	104	P21453	S1PR1_HUMAN	F	104	ENSP00000305416:L104F	ENSP00000305416:L104F	L	+	3	2	S1PR1	101477440	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	1.186000	0.32078	1.408000	0.46895	0.650000	0.86243	TTG		0.547	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		6	43	1	0	0.00198382	0.001984	0.00221159	6	43				
VAV3	10451	broad.mit.edu	37	1	108185330	108185330	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:108185330G>T	ENST00000370056.4	-	20	2099	c.1825C>A	c.(1825-1827)Cca>Aca	p.P609T	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.P609T|VAV3_ENST00000415432.2_Missense_Mutation_p.P49T|VAV3_ENST00000544443.1_Missense_Mutation_p.P13T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	609	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.P609T(1)|p.P49T(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGCAGAGCTGGGGGTGGTGTT	0.448																																							uc001dvk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(2)|breast(2)	9						c.(1825-1827)CCA>ACA		vav 3 guanine nucleotide exchange factor isoform							125.0	120.0	121.0					1																	108185330		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108185330G>T	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1825C>A	1.37:g.108185330G>T	ENSP00000359073:p.Pro609Thr					VAV3_uc010ouu.1_Missense_Mutation_p.P13T|VAV3_uc001dvj.1_Missense_Mutation_p.P49T|VAV3_uc010ouv.1_Missense_Mutation_p.P13T|VAV3_uc010ouw.1_Missense_Mutation_p.P609T	p.P609T	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	20	1879	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	609			SH3 1.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.1825C>A	CCDS785.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754100	0.69648	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	T;T;T;T	0.13420	3.12;2.59;2.59;3.12	5.67	5.67	0.87782	Src homology-3 domain (3);Variant SH3 (1);	0.051377	0.85682	D	0.000000	T	0.35624	0.0938	M	0.82323	2.585	0.80722	D	1	D;D;P;D	0.76494	0.995;0.999;0.87;0.985	D;D;P;P	0.80764	0.953;0.994;0.718;0.868	T	0.10823	-1.0613	10	0.51188	T	0.08	.	19.3739	0.94501	0.0:0.0:1.0:0.0	.	609;13;609;49	E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.;.;VAV3_HUMAN;.	T	609;609;13;49	ENSP00000359073:P609T;ENSP00000432540:P609T;ENSP00000446404:P13T;ENSP00000394897:P49T	ENSP00000359073:P609T	P	-	1	0	VAV3	107986853	1.000000	0.71417	0.982000	0.44146	0.845000	0.48019	6.260000	0.72502	2.682000	0.91365	0.555000	0.69702	CCA		0.448	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		12	97	1	0	1.5842e-08	0.001855	2.24927e-08	12	97				
VAV3	10451	broad.mit.edu	37	1	108185332	108185332	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:108185332G>C	ENST00000370056.4	-	20	2097	c.1823C>G	c.(1822-1824)cCc>cGc	p.P608R	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.P608R|VAV3_ENST00000415432.2_Missense_Mutation_p.P48R|VAV3_ENST00000544443.1_Missense_Mutation_p.P12R	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	608	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.P608R(1)|p.P48R(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAGAGCTGGGGGTGGTGTTCC	0.453																																							uc001dvk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(2)|breast(2)	9						c.(1822-1824)CCC>CGC		vav 3 guanine nucleotide exchange factor isoform							126.0	121.0	123.0					1																	108185332		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108185332G>C	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1823C>G	1.37:g.108185332G>C	ENSP00000359073:p.Pro608Arg					VAV3_uc010ouu.1_Missense_Mutation_p.P12R|VAV3_uc001dvj.1_Missense_Mutation_p.P48R|VAV3_uc010ouv.1_Missense_Mutation_p.P12R|VAV3_uc010ouw.1_Missense_Mutation_p.P608R	p.P608R	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	20	1877	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	608			SH3 1.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.1823C>G	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.274|8.274	0.814108|0.814108	0.16537|0.16537	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000529809|ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	T|T;T;T;T	0.09445|0.10192	2.98|2.9;2.9;2.9;2.9	5.67|5.67	3.66|3.66	0.41972|0.41972	.|Src homology-3 domain (3);Variant SH3 (1);	0.673496|0.673496	0.16219|0.16219	N|N	0.224126|0.224126	T|T	0.04543|0.04543	0.0124|0.0124	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.22683	.|0.022;0.014;0.073;0.009	.|B;B;B;B	.|0.37943	.|0.049;0.062;0.261;0.038	T|T	0.27773|0.27773	-1.0064|-1.0064	8|10	0.87932|0.21540	D|T	0|0.41	.|.	8.7725|8.7725	0.34742|0.34742	0.085:0.0:0.7014:0.2135|0.085:0.0:0.7014:0.2135	.|.	.|608;12;608;48	.|E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.|.;.;VAV3_HUMAN;.	A|R	136|608;608;12;48	ENSP00000431544:P136A|ENSP00000359073:P608R;ENSP00000432540:P608R;ENSP00000446404:P12R;ENSP00000394897:P48R	ENSP00000434944:P33A|ENSP00000359073:P608R	P|P	-|-	1|2	0|0	VAV3|VAV3	107986855|107986855	0.998000|0.998000	0.40836|0.40836	0.975000|0.975000	0.42487|0.42487	0.841000|0.841000	0.47740|0.47740	1.784000|1.784000	0.38674|0.38674	1.421000|1.421000	0.47157|0.47157	-0.226000|-0.226000	0.12346|0.12346	CCC|CCC		0.453	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		10	94	0	0	0	0.001368	0	10	94				
GSTM2	2946	broad.mit.edu	37	1	110214125	110214125	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:110214125G>A	ENST00000241337.4	+	7	537	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	GSTM2_ENST00000369831.2_Missense_Mutation_p.V163I|GSTM2_ENST00000460717.3_Missense_Mutation_p.V163I|GSTM2_ENST00000414179.2_Missense_Mutation_p.V59I|GSTM2_ENST00000442650.1_Missense_Mutation_p.V163I|GSTM2_ENST00000369827.3_Intron|GSTM2_ENST00000369829.2_Missense_Mutation_p.V163I	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	163	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.V163I(3)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CGCTTATGATGTCCTTGAGAG	0.478																																							uc001dyi.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(487-489)GTC>ATC		glutathione S-transferase mu 2 isoform 1	Glutathione(DB00143)						144.0	128.0	134.0					1																	110214125		2203	4300	6503	SO:0001583	missense	2946				glutathione metabolic process|xenobiotic catabolic process	cytoplasm	glutathione transferase activity	g.chr1:110214125G>A	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.487G>A	1.37:g.110214125G>A	ENSP00000241337:p.Val163Ile					GSTM2_uc001dyj.2_Missense_Mutation_p.V163I|GSTM2_uc010ovt.1_Missense_Mutation_p.V163I|GSTM2_uc009wfk.2_RNA	p.V163I	NM_000848	NP_000839	P28161	GSTM2_HUMAN		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	7	801	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	163			GST C-terminal.		B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	37	c.487G>A	CCDS808.1	.	.	.	.	.	.	.	.	.	.	G	2.907	-0.226217	0.06022	.	.	ENSG00000213366	ENST00000442650;ENST00000369831;ENST00000460717;ENST00000414179;ENST00000369829;ENST00000241337	T;T;T;T;T;T	0.01902	4.57;4.57;4.57;4.57;4.57;4.57	3.06	-1.94	0.07571	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.700049	0.12254	N	0.485359	T	0.00524	0.0017	N	0.21545	0.675	0.58432	D	0.999998	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.20384	0.029;0.004;0.009	T	0.34551	-0.9824	10	0.10377	T	0.69	.	7.8112	0.29232	0.5906:0.0:0.4094:0.0	.	163;163;163	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	I	163;163;163;59;163;163	ENSP00000416883:V163I;ENSP00000358846:V163I;ENSP00000435910:V163I;ENSP00000404662:V59I;ENSP00000358844:V163I;ENSP00000241337:V163I	ENSP00000241337:V163I	V	+	1	0	GSTM2	110015648	0.000000	0.05858	0.098000	0.21074	0.653000	0.38743	-0.927000	0.03984	-0.308000	0.08792	0.484000	0.47621	GTC		0.478	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		13	86	0	0	0	0.007413	0	13	86				
GSTM5	2949	broad.mit.edu	37	1	110256121	110256121	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:110256121G>T	ENST00000256593.3	+	4	251	c.193G>T	c.(193-195)Gat>Tat	p.D65Y	GSTM5_ENST00000369812.5_Missense_Mutation_p.D84Y|GSTM5_ENST00000369813.1_Missense_Mutation_p.D24Y	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	65	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)	p.D65Y(1)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CTACTTGATTGATGGGGCTCA	0.587																																							uc001dyn.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)	6						c.(193-195)GAT>TAT		glutathione S-transferase mu 5	Glutathione(DB00143)						265.0	210.0	229.0					1																	110256121		2203	4300	6503	SO:0001583	missense	2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110256121G>T	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.193G>T	1.37:g.110256121G>T	ENSP00000256593:p.Asp65Tyr					GSTM5_uc010ovu.1_Missense_Mutation_p.D24Y	p.D65Y	NM_000851	NP_000842	P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	4	264	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	65			GST N-terminal.		A8K0V8|Q6PD78	Missense_Mutation	SNP	ENST00000256593.3	37	c.193G>T	CCDS811.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120884	0.37436	.	.	ENSG00000134201	ENST00000256593;ENST00000369813;ENST00000369812	T;T;T	0.09350	2.99;2.99;2.99	4.33	3.41	0.39046	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000001	T	0.36193	0.0958	H	0.97852	4.09	0.47374	D	0.999405	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.52990	-0.8501	10	0.87932	D	0	.	9.5773	0.39465	0.1008:0.0:0.8992:0.0	.	24;65	Q5T8Q9;P46439	.;GSTM5_HUMAN	Y	65;24;84	ENSP00000256593:D65Y;ENSP00000358828:D24Y;ENSP00000358827:D84Y	ENSP00000256593:D65Y	D	+	1	0	GSTM5	110057644	1.000000	0.71417	0.564000	0.28396	0.029000	0.11900	5.166000	0.64965	1.157000	0.42530	0.505000	0.49811	GAT		0.587	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		24	140	1	0	2.44723e-14	0.004656	3.91124e-14	24	140				
MAGI3	260425	broad.mit.edu	37	1	114189153	114189153	+	Missense_Mutation	SNP	G	G	A	rs369633891		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:114189153G>A	ENST00000307546.9	+	12	2119	c.2044G>A	c.(2044-2046)Gag>Aag	p.E682K	MAGI3_ENST00000369617.4_Missense_Mutation_p.E707K|MAGI3_ENST00000369615.1_Missense_Mutation_p.E682K|MAGI3_ENST00000369611.4_Missense_Mutation_p.E682K	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	707					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.E682K(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCCATAAATGAGCCTATTCC	0.378																																							uc001edk.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(2044-2046)GAG>AAG		membrane-associated guanylate kinase-related  3							111.0	111.0	111.0					1																	114189153		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114189153G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2044G>A	1.37:g.114189153G>A	ENSP00000304604:p.Glu682Lys					MAGI3_uc001edh.3_Missense_Mutation_p.E707K|MAGI3_uc001edi.3_Missense_Mutation_p.E682K|MAGI3_uc010owm.1_Missense_Mutation_p.E707K|MAGI3_uc001edj.2_Missense_Mutation_p.E403K	p.E682K	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	2225	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	707					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.2044G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607450	0.46527	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.15718	2.58;2.4;2.58;2.58	5.25	5.25	0.73442	.	0.256885	0.38897	N	0.001525	T	0.14013	0.0339	L	0.40543	1.245	0.58432	D	0.999998	P;P;B	0.52061	0.95;0.493;0.203	P;B;B	0.48334	0.574;0.178;0.149	T	0.01626	-1.1309	10	0.35671	T	0.21	-25.8127	18.8479	0.92215	0.0:0.0:1.0:0.0	.	682;682;707	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	K	707;682;682;682	ENSP00000358630:E707K;ENSP00000304604:E682K;ENSP00000358628:E682K;ENSP00000358624:E682K	ENSP00000304604:E682K	E	+	1	0	MAGI3	113990676	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	8.660000	0.91121	2.451000	0.82905	0.462000	0.41574	GAG		0.378	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	75	0	0	0	0.009096	0	4	75				
CD58	965	broad.mit.edu	37	1	117078851	117078851	+	Splice_Site	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:117078851C>G	ENST00000369489.5	-	3	431		c.e3-1		CD58_ENST00000369487.3_Splice_Site|CD58_ENST00000457047.2_Splice_Site	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GGAAGAGACTCTGGAAAAAAA	0.363																																							uc001egm.2		NA																	1	Unknown(1)		lung(1)		0						c.e3-1		CD58 molecule isoform 1							46.0	45.0	45.0					1																	117078851		2203	4300	6503	SO:0001630	splice_region_variant	965				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	g.chr1:117078851C>G	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.365-1G>C	1.37:g.117078851C>G						CD58_uc001egn.2_Splice_Site|CD58_uc010owy.1_Splice_Site_p.E122_splice|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Splice_Site_p.E122_splice	p.E122_splice	NM_001779	NP_001770	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	3	486	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)						A8K7G5|Q5U053|Q6IB65|Q96KI9	Splice_Site	SNP	ENST00000369489.5	37	c.365_splice	CCDS888.1	.	.	.	.	.	.	.	.	.	.	C	8.437	0.850030	0.17034	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000369487	.	.	.	3.06	3.06	0.35304	.	.	.	.	.	.	.	.	.	.	.	0.43099	D	0.99478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8597	0.41107	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD58	116880374	0.453000	0.25721	0.065000	0.19835	0.085000	0.17905	2.213000	0.42844	2.017000	0.59298	0.655000	0.94253	.		0.363	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779	Intron	7	18	0	0	0	0.00308	0	7	18				
WDR3	10885	broad.mit.edu	37	1	118501533	118501533	+	Splice_Site	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:118501533G>T	ENST00000349139.5	+	26	2630	c.2583G>T	c.(2581-2583)agG>agT	p.R861S	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	861						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R861S(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTTCTATCAGGATTCACTTTG	0.388																																							uc010oxe.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(2581-2583)AGG>AGT		WD repeat-containing protein 3							85.0	82.0	83.0					1																	118501533		2203	4300	6503	SO:0001630	splice_region_variant	10885					nuclear membrane|nucleolus		g.chr1:118501533G>T	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2583-1G>T	1.37:g.118501533G>T						WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	p.R861S	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	26	2649	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	861						Missense_Mutation	SNP	ENST00000349139.5	37	c.2583G>T	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238403	0.58886	.	.	ENSG00000065183	ENST00000349139	T	0.57273	0.41	5.63	2.7	0.31948	.	0.092651	0.85682	D	0.000000	T	0.54695	0.1874	M	0.83953	2.67	0.80722	D	1	D	0.63880	0.993	P	0.55749	0.783	T	0.59295	-0.7481	9	.	.	.	.	10.2739	0.43499	0.2198:0.0:0.7802:0.0	.	861	Q9UNX4	WDR3_HUMAN	S	861	ENSP00000308179:R861S	.	R	+	3	2	WDR3	118303056	1.000000	0.71417	0.999000	0.59377	0.579000	0.36224	3.150000	0.50662	0.308000	0.22923	-0.300000	0.09419	AGG		0.388	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784	Missense_Mutation	8	49	1	0	1.12685e-05	0.004482	1.45156e-05	8	49				
TCHH	7062	broad.mit.edu	37	1	152082950	152082950	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:152082950T>C	ENST00000368804.1	-	2	2742	c.2743A>G	c.(2743-2745)Aga>Gga	p.R915G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	915	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R915G(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCTCCTCTCTCTGTAGCTCC	0.597																																							uc001ezp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2743-2745)AGA>GGA		trichohyalin							124.0	133.0	130.0					1																	152082950		2110	4227	6337	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082950T>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2743A>G	1.37:g.152082950T>C	ENSP00000357794:p.Arg915Gly					TCHH_uc009wne.1_Missense_Mutation_p.R915G	p.R915G	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2743	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		915			4-1.|10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.2743A>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	t	9.465	1.094219	0.20471	.	.	ENSG00000159450	ENST00000368804	T	0.06142	3.34	4.0	-3.75	0.04372	.	.	.	.	.	T	0.01287	0.0042	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46830	-0.9163	9	0.23891	T	0.37	.	6.2693	0.20945	0.0:0.4813:0.1529:0.3658	.	915	Q07283	TRHY_HUMAN	G	915	ENSP00000357794:R915G	ENSP00000357794:R915G	R	-	1	2	TCHH	150349574	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-2.162000	0.01277	-0.746000	0.04766	0.374000	0.22700	AGA		0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		28	159	0	0	0	0.009535	0	28	159				
FLG	2312	broad.mit.edu	37	1	152284173	152284173	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:152284173G>T	ENST00000368799.1	-	3	3224	c.3189C>A	c.(3187-3189)caC>caA	p.H1063Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1063	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)	p.H1063Q(1)		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)			TGGACCCCCAGTGTCCACTGT	0.577									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3187-3189)CAC>CAA		filaggrin							390.0	390.0	390.0					1																	152284173		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.chr1:152284173G>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.3189C>A	1.37:g.152284173G>T	ENSP00000357789:p.His1063Gln					uc001ezv.2_5'Flank	p.H1063Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3225	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1063			Filaggrin 6.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3189C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	7.430	0.638518	0.14386	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.03860	3.78	3.82	-7.64	0.01286	.	.	.	.	.	T	0.01029	0.0034	L	0.43152	1.355	0.09310	N	1	P	0.43169	0.8	B	0.43575	0.424	T	0.37888	-0.9686	9	0.10902	T	0.67	.	2.2925	0.04142	0.5224:0.129:0.2052:0.1434	.	1063	P20930	FILA_HUMAN	Q	1063;270	ENSP00000357789:H1063Q	ENSP00000357789:H1063Q	H	-	3	2	FLG	150550797	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.793000	0.00053	-1.231000	0.02557	0.299000	0.19835	CAC		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		50	449	1	0	7.77372e-23	0.00361	1.31209e-22	50	449				
LCE1F	353137	broad.mit.edu	37	1	152748972	152748972	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:152748972C>T	ENST00000334371.2	+	1	125	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	42					keratinization (GO:0031424)			p.S42F(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ccTGTCTCTTCCTGCTGCAGC	0.677																																							uc010pdv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(124-126)TCC>TTC		late cornified envelope 1F							54.0	56.0	55.0					1																	152748972		2203	4300	6503	SO:0001583	missense	353137				keratinization			g.chr1:152748972C>T		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.125C>T	1.37:g.152748972C>T	ENSP00000334187:p.Ser42Phe						p.S42F	NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	125	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		42						Missense_Mutation	SNP	ENST00000334371.2	37	c.125C>T	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710537	0.30322	.	.	ENSG00000240386	ENST00000334371	T	0.06142	3.34	4.56	4.56	0.56223	.	0.000000	0.33161	U	0.005209	T	0.13415	0.0325	M	0.68593	2.085	0.30847	N	0.735044	D	0.69078	0.997	D	0.78314	0.991	T	0.00198	-1.1929	10	0.87932	D	0	.	13.0238	0.58804	0.0:1.0:0.0:0.0	.	42	Q5T754	LCE1F_HUMAN	F	42	ENSP00000334187:S42F	ENSP00000334187:S42F	S	+	2	0	LCE1F	151015596	0.999000	0.42202	0.997000	0.53966	0.872000	0.50106	1.888000	0.39708	2.516000	0.84829	0.557000	0.71058	TCC		0.677	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		4	55	0	0	0	0.000602	0	4	55				
PGLYRP3	114771	broad.mit.edu	37	1	153270489	153270489	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:153270489C>T	ENST00000290722.1	-	7	1021	c.969G>A	c.(967-969)ctG>ctA	p.L323L		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	323					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.L323L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCAGGGGACAGGATGTTGA	0.597																																							uc001fbn.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(967-969)CTG>CTA		peptidoglycan recognition protein 3 precursor							248.0	209.0	222.0					1																	153270489		2203	4300	6503	SO:0001819	synonymous_variant	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153270489C>T	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.969G>A	1.37:g.153270489C>T							p.L323L	NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	1022	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		323					A1A4U8|Q5SY65	Silent	SNP	ENST00000290722.1	37	c.969G>A	CCDS1035.1																																																																																				0.597	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		42	211	0	0	0	0.00361	0	42	211				
AQP10	89872	broad.mit.edu	37	1	154295719	154295719	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:154295719G>T	ENST00000324978.3	+	4	413	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000484864.1_Missense_Mutation_p.A125S|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	125					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A125S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCCACAGATGCCCTACAGAA	0.542																																							uc001feu.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(373-375)GCC>TCC		aquaporin 10							106.0	107.0	107.0					1																	154295719		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154295719G>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.373G>T	1.37:g.154295719G>T	ENSP00000318355:p.Ala125Ser					AQP10_uc001fev.2_Missense_Mutation_p.A125S|ATP8B2_uc001few.2_5'Flank	p.A125S	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	413	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		125			Extracellular (Potential).		Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.373G>T	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784554	0.90282	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	T;T	0.11604	2.76;2.76	4.92	4.92	0.64577	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	L	0.60067	1.865	0.54753	D	0.999985	P;D	0.89917	0.849;1.0	B;D	0.97110	0.395;1.0	T	0.00435	-1.1741	10	0.54805	T	0.06	.	16.9154	0.86149	0.0:0.0:1.0:0.0	.	125;125	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	S	125	ENSP00000318355:A125S;ENSP00000420341:A125S	ENSP00000318355:A125S	A	+	1	0	AQP10	152562343	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.678000	0.84035	2.585000	0.87301	0.555000	0.69702	GCC		0.542	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		8	60	1	0	5.18039e-06	0.00308	6.79926e-06	8	60				
RRNAD1	51093	broad.mit.edu	37	1	156704034	156704034	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:156704034G>C	ENST00000368216.4	+	6	1500	c.870G>C	c.(868-870)ctG>ctC	p.L290L	RRNAD1_ENST00000368218.4_Intron|RRNAD1_ENST00000476229.1_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	290						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)	p.L290L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						ACATGAAGCTGAGTGACCCTG	0.642																																							uc001fpu.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(868-870)CTG>CTC		hypothetical protein LOC51093 isoform 1							77.0	69.0	72.0					1																	156704034		2203	4300	6503	SO:0001819	synonymous_variant	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156704034G>C	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.870G>C	1.37:g.156704034G>C						C1orf66_uc001fpv.2_Intron	p.L290L	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN			6	1504	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		290					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Silent	SNP	ENST00000368216.4	37	c.870G>C	CCDS1154.1																																																																																				0.642	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		4	34	0	0	0	0.000602	0	4	34				
HDGF	3068	broad.mit.edu	37	1	156713537	156713537	+	Missense_Mutation	SNP	C	C	T	rs201482955		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:156713537C>T	ENST00000357325.5	-	5	937	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368206.5_Missense_Mutation_p.R224Q|MRPL24_ENST00000361531.2_5'Flank|HDGF_ENST00000368209.5_Missense_Mutation_p.R201Q|HDGF_ENST00000537739.1_Missense_Mutation_p.R208Q|HDGF_ENST00000416666.2_Missense_Mutation_p.R176Q|MRPL24_ENST00000368211.4_5'Flank	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	208	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)	p.R208Q(1)|p.R224Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		GGGAGGCCCCCGGCCAGAGCC	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17061	0.0		0.0	False		,,,				2504	0.0						uc001fpy.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(622-624)CGG>CAG		hepatoma-derived growth factor isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG	1,4401		0,1,2200	30.0	34.0	32.0		671,602,623	2.7	1.0	1		32	0,8596		0,0,4298	no	missense,missense,missense	HDGF	NM_001126050.1,NM_001126051.1,NM_004494.2	43,43,43	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	224/257,201/234,208/241	156713537	1,12997	2201	4298	6499	SO:0001583	missense	3068				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	g.chr1:156713537C>T	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.623G>A	1.37:g.156713537C>T	ENSP00000349878:p.Arg208Gln					MRPL24_uc001fpw.1_5'Flank|MRPL24_uc001fpx.1_5'Flank|HDGF_uc009wsd.2_Missense_Mutation_p.R176Q|HDGF_uc001fpz.3_Missense_Mutation_p.R201Q|HDGF_uc009wse.2_Missense_Mutation_p.R224Q|HDGF_uc010phr.1_Missense_Mutation_p.R231Q|HDGF_uc009wsf.2_Missense_Mutation_p.R176Q|HDGF_uc009wsg.2_Intron	p.R208Q	NM_004494	NP_004485	P51858	HDGF_HUMAN		Colorectal(1306;0.018)	5	945	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	208			Glu-rich.		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	c.623G>A	CCDS1156.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545069	0.27652	2.27E-4	0.0	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206;ENST00000406805	T;T;T;T;T	0.31247	1.96;1.52;1.96;1.55;1.5	4.55	2.67	0.31697	.	0.494559	0.16382	U	0.216857	T	0.03695	0.0105	N	0.08118	0	0.20563	N	0.99989	B;B;B;B	0.24533	0.105;0.105;0.059;0.006	B;B;B;B	0.10450	0.005;0.005;0.003;0.001	T	0.44375	-0.9332	10	0.12103	T	0.63	-4.1683	6.8847	0.24193	0.0:0.8021:0.0:0.1979	.	183;224;201;208	B7Z958;Q5SZ07;Q5SZ08;P51858	.;.;.;HDGF_HUMAN	Q	208;201;208;176;224;231	ENSP00000349878:R208Q;ENSP00000357192:R201Q;ENSP00000443120:R208Q;ENSP00000416752:R176Q;ENSP00000357189:R224Q	ENSP00000349878:R208Q	R	-	2	0	HDGF	154980161	0.944000	0.32072	0.999000	0.59377	0.944000	0.59088	0.493000	0.22451	0.535000	0.28714	0.456000	0.33151	CGG		0.592	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		6	16	0	0	0	0.001168	0	6	16				
SH2D2A	9047	broad.mit.edu	37	1	156779494	156779494	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:156779494C>A	ENST00000368199.3	-	6	826	c.673G>T	c.(673-675)Gcc>Tcc	p.A225S	SH2D2A_ENST00000392306.2_Missense_Mutation_p.A235S|SH2D2A_ENST00000368198.3_Missense_Mutation_p.A207S	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	225	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)	p.A225S(1)|p.A235S(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGACTGGGGCTTGCCCCTGT	0.607																																							uc001fqd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(673-675)GCC>TCC		SH2 domain protein 2A isoform 2							116.0	112.0	113.0					1																	156779494		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779494C>A	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.673G>T	1.37:g.156779494C>A	ENSP00000357182:p.Ala225Ser					SH2D2A_uc001fqc.1_Missense_Mutation_p.A197S|SH2D2A_uc009wsh.2_Missense_Mutation_p.A235S|SH2D2A_uc001fqe.2_Missense_Mutation_p.A207S|SH2D2A_uc010phs.1_Missense_Mutation_p.A225S	p.A225S	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN			6	813	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		225			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.673G>T	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	4.539	0.100001	0.08681	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.55930	0.5;0.49;0.9	4.13	-2.65	0.06095	.	2.007680	0.02358	N	0.076584	T	0.10680	0.0261	N	0.11560	0.145	0.09310	N	1	B;B;B	0.16603	0.018;0.01;0.01	B;B;B	0.14578	0.011;0.005;0.003	T	0.05257	-1.0896	10	0.22706	T	0.39	-0.962	4.3186	0.11005	0.0:0.3307:0.3119:0.3575	.	235;207;225	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	S	225;207;235	ENSP00000357182:A225S;ENSP00000357181:A207S;ENSP00000376123:A235S	ENSP00000357181:A207S	A	-	1	0	SH2D2A	155046118	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.248000	0.02890	-0.652000	0.05408	0.555000	0.69702	GCC		0.607	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		12	162	1	0	0.00136819	0.001368	0.00153476	12	162				
OR10X1	128367	broad.mit.edu	37	1	158548836	158548836	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:158548836G>T	ENST00000368150.1	-	1	853	c.854C>A	c.(853-855)aCa>aAa	p.T285K		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T285K(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGCTATGAGTGTGTCATCTCC	0.448																																							uc010pin.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(853-855)ACA>AAA		olfactory receptor, family 10, subfamily X,							111.0	115.0	114.0					1																	158548836		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548836G>T	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.854C>A	1.37:g.158548836G>T	ENSP00000357132:p.Thr285Lys						p.T285K	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	854	-	all_hematologic(112;0.0378)		285			Helical; Name=7; (Potential).		Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.854C>A	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932289	0.34096	.	.	ENSG00000186400	ENST00000368150	T	0.00031	8.89	4.5	1.28	0.21552	.	0.282172	0.25316	N	0.031548	T	0.00039	0.0001	N	0.03253	-0.375	0.09310	N	1	D	0.56287	0.975	P	0.53518	0.728	T	0.20874	-1.0262	10	0.02654	T	1	.	5.8583	0.18732	0.0985:0.0:0.3787:0.5228	.	285	Q8NGY0	O10X1_HUMAN	K	285	ENSP00000357132:T285K	ENSP00000357132:T285K	T	-	2	0	OR10X1	156815460	0.000000	0.05858	0.920000	0.36463	0.996000	0.88848	0.246000	0.18160	0.579000	0.29504	0.563000	0.77884	ACA		0.448	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		14	105	1	0	0.000151284	0.001855	0.000180462	14	105				
OR6N1	128372	broad.mit.edu	37	1	158735635	158735635	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:158735635C>A	ENST00000335094.2	-	1	857	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, 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)	p.V280L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GGTGTGAGCACTGAGTAGACC	0.507																																							uc010piq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(838-840)GTG>TTG		olfactory receptor, family 6, subfamily N,							181.0	172.0	175.0					1																	158735635		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735635C>A	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.838G>T	1.37:g.158735635C>A	ENSP00000335535:p.Val280Leu						p.V280L	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	838	-	all_hematologic(112;0.0378)		280			Helical; Name=7; (Potential).		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.838G>T	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293313	0.40594	.	.	ENSG00000197403	ENST00000335094	T	0.00279	8.33	4.92	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.391042	0.19252	N	0.118914	T	0.00109	0.0003	L	0.46670	1.46	0.09310	N	1	P	0.36110	0.537	B	0.40741	0.339	T	0.30446	-0.9978	10	0.45353	T	0.12	-14.7597	12.3333	0.55051	0.0:0.9036:0.0:0.0964	.	280	Q8NGY5	OR6N1_HUMAN	L	280	ENSP00000335535:V280L	ENSP00000335535:V280L	V	-	1	0	OR6N1	157002259	0.001000	0.12720	0.916000	0.36221	0.897000	0.52465	-0.003000	0.12901	2.529000	0.85273	0.643000	0.83706	GTG		0.507	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		9	153	1	0	0.000274275	0.004482	0.000318342	9	153				
CADM3	57863	broad.mit.edu	37	1	159169596	159169596	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:159169596C>T	ENST00000368125.4	+	8	1165	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	CTA-134P22.2_ENST00000609696.1_RNA|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Silent_p.I370I	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	336					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.I370I(3)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCGGTGGGATCGTGGCTTTCA	0.557																																							uc001ftl.2		NA																	3	Substitution - coding silent(3)		lung(2)|large_intestine(1)	ovary(2)	2						c.(1006-1008)ATC>ATT		cell adhesion molecule 3 isoform 2							176.0	139.0	151.0					1																	159169596		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159169596C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1008C>T	1.37:g.159169596C>T						CADM3_uc001ftk.2_Silent_p.I370I|uc001ftm.1_RNA	p.I336I	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			8	1150	+	all_hematologic(112;0.0429)		336			Helical; (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.1008C>T	CCDS44251.1																																																																																				0.557	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		5	43	0	0	0	0.000602	0	5	43				
NDUFS2	4720	broad.mit.edu	37	1	161180475	161180475	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:161180475G>T	ENST00000367993.3	+	10	1409	c.961G>T	c.(961-963)Ggt>Tgt	p.G321C	NDUFS2_ENST00000476409.2_Missense_Mutation_p.G223C|NDUFS2_ENST00000392179.4_Missense_Mutation_p.G321C|NDUFS2_ENST00000465923.1_3'UTR	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	321					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)	p.G321C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	TGTTCCTGTTGGTTCTCGAGG	0.527																																							uc001fyv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(961-963)GGT>TGT		NADH dehydrogenase (ubiquinone) Fe-S protein 2	NADH(DB00157)						144.0	112.0	123.0					1																	161180475		2203	4300	6503	SO:0001583	missense	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161180475G>T	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.961G>T	1.37:g.161180475G>T	ENSP00000356972:p.Gly321Cys					NDUFS2_uc010pki.1_Missense_Mutation_p.G223C|NDUFS2_uc001fyw.2_Missense_Mutation_p.G321C|NDUFS2_uc010pkj.1_Missense_Mutation_p.G270C|NDUFS2_uc001fyx.2_Missense_Mutation_p.G295C	p.G321C	NM_004550	NP_004541	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		10	1409	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		321					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	ENST00000367993.3	37	c.961G>T	CCDS1224.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382066	0.82792	.	.	ENSG00000158864	ENST00000367993;ENST00000392179;ENST00000476409	D;D;D	0.85556	-2.0;-2.0;-2.0	5.14	5.14	0.70334	NADH-quinone oxidoreductase, subunit D (1);	0.000000	0.85682	D	0.000000	D	0.94456	0.8216	H	0.95365	3.66	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.95594	0.8657	9	0.87932	D	0	.	17.5392	0.87842	0.0:0.0:1.0:0.0	.	270;223;321;321	B7Z792;B7Z9L2;Q53HG2;O75306	.;.;.;NDUS2_HUMAN	C	321;321;223	ENSP00000356972:G321C;ENSP00000376018:G321C;ENSP00000446447:G223C	ENSP00000356972:G321C	G	+	1	0	NDUFS2	159447099	1.000000	0.71417	0.819000	0.32651	0.708000	0.40852	8.800000	0.91900	2.668000	0.90789	0.555000	0.69702	GGT		0.527	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		7	38	1	0	8.12818e-05	0.001984	9.7994e-05	7	38				
ATF6	22926	broad.mit.edu	37	1	161771911	161771911	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:161771911A>C	ENST00000367942.3	+	7	825	c.758A>C	c.(757-759)cAg>cCg	p.Q253P		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	253					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.Q253P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	CCCTCTGCTCAGCCAGTCCTT	0.512																																							uc001gbr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(757-759)CAG>CCG		activating transcription factor 6							123.0	109.0	114.0					1																	161771911		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161771911A>C	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.758A>C	1.37:g.161771911A>C	ENSP00000356919:p.Gln253Pro					ATF6_uc001gbq.1_Missense_Mutation_p.Q253P	p.Q253P	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		7	825	+	all_hematologic(112;0.156)		253			Cytoplasmic (Potential).		O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.758A>C	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.766599	0.49574	.	.	ENSG00000118217	ENST00000367942	T	0.15952	2.38	5.75	4.63	0.57726	.	0.376195	0.29080	N	0.013204	T	0.06325	0.0163	L	0.50333	1.59	0.37795	D	0.927512	B;P	0.43169	0.203;0.8	B;B	0.35470	0.093;0.203	T	0.21518	-1.0243	9	0.32370	T	0.25	-1.3043	11.2088	0.48786	0.8358:0.1642:0.0:0.0	.	253;254	P18850;Q59H30	ATF6A_HUMAN;.	P	253	ENSP00000356919:Q253P	ENSP00000356919:Q253P	Q	+	2	0	ATF6	160038535	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	4.215000	0.58534	1.005000	0.39183	0.533000	0.62120	CAG		0.512	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		11	84	0	0	0	0.008291	0	11	84				
ASTN1	460	broad.mit.edu	37	1	177001649	177001649	+	Missense_Mutation	SNP	G	G	T	rs201773141		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:177001649G>T	ENST00000367654.3	-	3	1019	c.808C>A	c.(808-810)Cgc>Agc	p.R270S	ASTN1_ENST00000367657.3_Missense_Mutation_p.R270S|ASTN1_ENST00000424564.2_Missense_Mutation_p.R270S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.R270S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	270					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R270C(1)|p.R270S(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCGAGGGTGCGCGTGACCTGG	0.582																																							uc001glc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(808-810)CGC>AGC		astrotactin isoform 1							137.0	116.0	123.0					1																	177001649		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177001649G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.808C>A	1.37:g.177001649G>T	ENSP00000356626:p.Arg270Ser					ASTN1_uc001glb.1_Missense_Mutation_p.R270S|ASTN1_uc001gld.1_Missense_Mutation_p.R270S|ASTN1_uc009wwx.1_Missense_Mutation_p.R270S|ASTN1_uc001gle.3_RNA	p.R270S	NM_004319	NP_004310	O14525	ASTN1_HUMAN			3	1020	-			270					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.808C>A		.	.	.	.	.	.	.	.	.	.	G	15.47	2.842501	0.51057	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15256	2.44;2.86;2.86;2.45	5.53	5.53	0.82687	.	0.148767	0.64402	D	0.000007	T	0.23688	0.0573	N	0.14661	0.345	0.80722	D	1	D;D;D	0.71674	0.998;0.992;0.992	D;D;D	0.80764	0.994;0.979;0.979	T	0.08330	-1.0727	10	0.22109	T	0.4	-21.196	14.7554	0.69560	0.0:0.0:0.8548:0.1452	.	270;270;270	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	S	270	ENSP00000356629:R270S;ENSP00000354536:R270S;ENSP00000356626:R270S;ENSP00000395041:R270S	ENSP00000354536:R270S	R	-	1	0	ASTN1	175268272	1.000000	0.71417	0.930000	0.37139	0.981000	0.71138	5.080000	0.64437	2.563000	0.86464	0.655000	0.94253	CGC		0.582	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		6	75	1	0	1.6384e-10	0.001984	2.46169e-10	6	75				
BRINP2	57795	broad.mit.edu	37	1	177249713	177249713	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:177249713C>T	ENST00000361539.4	+	8	1713	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	467					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.A467A(1)									CCGCGTGTGCCCACTGTGCTC	0.647																																							uc001glf.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1399-1401)GCC>GCT		family with sequence similarity 5, member B							34.0	33.0	33.0					1																	177249713		2203	4300	6503	SO:0001819	synonymous_variant	57795					extracellular region		g.chr1:177249713C>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1401C>T	1.37:g.177249713C>T						FAM5B_uc001glg.2_Silent_p.A362A	p.A467A	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	1713	+			467					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	c.1401C>T	CCDS1320.1																																																																																				0.647	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		3	26	0	0	0	0.004672	0	3	26				
CACNA1E	777	broad.mit.edu	37	1	181726077	181726077	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:181726077G>T	ENST00000367573.2	+	30	4144	c.4144G>T	c.(4144-4146)Gta>Tta	p.V1382L	CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1314L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1363L|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V1363L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1382L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V989L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1333L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1382					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.V1382L(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCAGCACTCTGTAGATGTGAC	0.463																																							uc001gow.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(4144-4146)GTA>TTA		calcium channel, voltage-dependent, R type,							132.0	138.0	136.0					1																	181726077		1953	4162	6115	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181726077G>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4144G>T	1.37:g.181726077G>T	ENSP00000356545:p.Val1382Leu					CACNA1E_uc009wxs.2_Missense_Mutation_p.V1270L|CACNA1E_uc001gox.1_Missense_Mutation_p.V608L|CACNA1E_uc009wxt.2_Missense_Mutation_p.V608L	p.V1382L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			30	4309	+			1382			Extracellular (Potential).|III.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.4144G>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102092	0.94245	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97994	-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65	5.75	5.75	0.90469	Ion transport (1);	0.282899	0.34245	N	0.004133	D	0.97371	0.9140	N	0.16368	0.405	0.80722	D	1	P;D;D	0.67145	0.792;0.983;0.996	P;P;D	0.76071	0.706;0.897;0.987	D	0.99056	1.0829	10	0.72032	D	0.01	.	19.5549	0.95342	0.0:0.0:1.0:0.0	.	1363;1382;1382	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	L	1382;1363;1333;1314;989;1363;1382	ENSP00000356542:V1382L;ENSP00000434814:V1363L;ENSP00000350183:V1333L;ENSP00000351101:V1314L;ENSP00000356539:V989L;ENSP00000353222:V1363L;ENSP00000356545:V1382L	ENSP00000350183:V1333L	V	+	1	0	CACNA1E	179992700	1.000000	0.71417	0.815000	0.32552	0.736000	0.42039	7.898000	0.87363	2.716000	0.92895	0.655000	0.94253	GTA		0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		11	91	1	0	2.80697e-09	0.000978	4.09483e-09	11	91				
SWT1	54823	broad.mit.edu	37	1	185153463	185153463	+	Silent	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:185153463A>G	ENST00000367500.4	+	8	1392	c.1227A>G	c.(1225-1227)acA>acG	p.T409T	SWT1_ENST00000367501.3_Silent_p.T409T	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	409	PINc.							p.T409T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TTTTGAAGACAACAGAAGTAC	0.279																																							uc001grg.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1225-1227)ACA>ACG		hypothetical protein LOC54823							41.0	45.0	43.0					1																	185153463		2192	4277	6469	SO:0001819	synonymous_variant	54823							g.chr1:185153463A>G	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1227A>G	1.37:g.185153463A>G						C1orf26_uc001grh.3_Silent_p.T409T	p.T409T	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN			8	1341	+			409			PINc.		Q8NEK9|Q9BZQ7|Q9NXQ0	Silent	SNP	ENST00000367500.4	37	c.1227A>G	CCDS1367.1																																																																																				0.279	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		4	32	0	0	0	0.000602	0	4	32				
HMCN1	83872	broad.mit.edu	37	1	186034450	186034450	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:186034450G>T	ENST00000271588.4	+	49	7823	c.7594G>T	c.(7594-7596)Ggc>Tgc	p.G2532C	HMCN1_ENST00000367492.2_Missense_Mutation_p.G2532C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2532	Ig-like C2-type 23.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G2532C(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATATCTGGTGGCCGTTTTCT	0.468																																							uc001grq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(7594-7596)GGC>TGC		hemicentin 1 precursor							79.0	74.0	76.0					1																	186034450		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186034450G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7594G>T	1.37:g.186034450G>T	ENSP00000271588:p.Gly2532Cys						p.G2532C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			49	7823	+			2532			Ig-like C2-type 23.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.7594G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365477	0.82463	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.69306	-0.39;-0.39	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89375	0.6697	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92960	0.6388	10	0.72032	D	0.01	.	19.4557	0.94886	0.0:0.0:1.0:0.0	.	2532	Q96RW7	HMCN1_HUMAN	C	2532	ENSP00000271588:G2532C;ENSP00000356462:G2532C	ENSP00000271588:G2532C	G	+	1	0	HMCN1	184301073	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	9.432000	0.97498	2.587000	0.87381	0.561000	0.74099	GGC		0.468	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		8	24	1	0	0.00307968	0.00308	0.00339969	8	24				
HMCN1	83872	broad.mit.edu	37	1	186141245	186141245	+	Nonsense_Mutation	SNP	G	G	T	rs573815691		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:186141245G>T	ENST00000271588.4	+	102	16025	c.15796G>T	c.(15796-15798)Gaa>Taa	p.E5266*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E5266*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5266	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.E5266*(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACCAAGGCAGAAAATGGAAC	0.428																																							uc001grq.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(22)|skin(1)	23						c.(15796-15798)GAA>TAA		hemicentin 1 precursor							189.0	169.0	176.0					1																	186141245		2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186141245G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15796G>T	1.37:g.186141245G>T	ENSP00000271588:p.Glu5266*					HMCN1_uc001grs.1_Nonsense_Mutation_p.E835*	p.E5266*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			102	16025	+			5266			EGF-like 4; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.15796G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	57	28.304718	0.99973	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	.	.	.	5.29	5.29	0.74685	.	0.107478	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	18.964	0.92687	0.0:0.0:1.0:0.0	.	.	.	.	X	5266;5266;58	.	ENSP00000271588:E5266X	E	+	1	0	HMCN1	184407868	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.260000	0.65490	2.480000	0.83734	0.655000	0.94253	GAA		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		6	94	1	0	0.00198382	0.001984	0.00221159	6	94				
BRINP3	339479	broad.mit.edu	37	1	190067370	190067370	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:190067370C>A	ENST00000367462.3	-	8	2310	c.2079G>T	c.(2077-2079)caG>caT	p.Q693H	BRINP3_ENST00000534846.1_Missense_Mutation_p.Q591H	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	693					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.Q693H(1)									CCTGGGATCCCTGAGTATAGG	0.448																																							uc001gse.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2077-2079)CAG>CAT		family with sequence similarity 5, member C							103.0	102.0	102.0					1																	190067370		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067370C>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2079G>T	1.37:g.190067370C>A	ENSP00000356432:p.Gln693His					FAM5C_uc010pot.1_Missense_Mutation_p.Q591H	p.Q693H	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2311	-	Prostate(682;0.198)		693					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.2079G>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919659	0.52653	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.22945	2.18;1.93	5.72	5.72	0.89469	.	0.062767	0.64402	D	0.000003	T	0.43523	0.1251	M	0.72894	2.215	0.50313	D	0.999865	D;P	0.55605	0.972;0.952	P;P	0.52217	0.693;0.496	T	0.38735	-0.9647	10	0.87932	D	0	.	17.3704	0.87376	0.0:1.0:0.0:0.0	.	591;693	B7Z260;Q76B58	.;FAM5C_HUMAN	H	693;591	ENSP00000356432:Q693H;ENSP00000438022:Q591H	ENSP00000356432:Q693H	Q	-	3	2	FAM5C	188333993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.860000	0.62961	2.695000	0.91970	0.650000	0.86243	CAG		0.448	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		8	67	1	0	0.00307968	0.00308	0.00339969	8	67				
BRINP3	339479	broad.mit.edu	37	1	190195291	190195291	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:190195291C>A	ENST00000367462.3	-	6	1113	c.882G>T	c.(880-882)atG>atT	p.M294I	BRINP3_ENST00000463404.1_5'UTR|BRINP3_ENST00000534846.1_Missense_Mutation_p.M192I	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	294					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.M294I(1)									CTTGAATGTCCATGGAGGGGC	0.418																																							uc001gse.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(880-882)ATG>ATT		family with sequence similarity 5, member C							90.0	83.0	85.0					1																	190195291		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190195291C>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.882G>T	1.37:g.190195291C>A	ENSP00000356432:p.Met294Ile					FAM5C_uc010pot.1_Missense_Mutation_p.M192I	p.M294I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			6	1114	-	Prostate(682;0.198)		294					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.882G>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747258	0.49257	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.16897	2.58;2.31	6.07	6.07	0.98685	.	0.039664	0.85682	D	0.000000	T	0.11324	0.0276	N	0.16478	0.41	0.53688	D	0.999972	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.12372	-1.0550	10	0.36615	T	0.2	.	11.4186	0.49967	0.0:0.9189:0.0:0.0811	.	192;294	B7Z260;Q76B58	.;FAM5C_HUMAN	I	294;192	ENSP00000356432:M294I;ENSP00000438022:M192I	ENSP00000356432:M294I	M	-	3	0	FAM5C	188461914	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.679000	0.68160	2.885000	0.99019	0.655000	0.94253	ATG		0.418	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		5	34	1	0	8.12818e-05	0.001984	9.7994e-05	5	34				
ASPM	259266	broad.mit.edu	37	1	197072203	197072203	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:197072203T>C	ENST00000367409.4	-	18	6434	c.6178A>G	c.(6178-6180)Aaa>Gaa	p.K2060E	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2060	IQ 15. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.K2060E(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TATTTCTTTTTGGTTTTGTAA	0.328																																							uc001gtu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(6178-6180)AAA>GAA		asp (abnormal spindle)-like, microcephaly							90.0	97.0	95.0					1																	197072203		2202	4293	6495	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072203T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6178A>G	1.37:g.197072203T>C	ENSP00000356379:p.Lys2060Glu					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.K2060E	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	6435	-			2060			IQ 15.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.6178A>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	t	13.76	2.331934	0.41297	.	.	ENSG00000066279	ENST00000367409	T	0.26810	1.71	5.66	4.56	0.56223	.	0.685215	0.14487	N	0.316609	T	0.37972	0.1023	L	0.52206	1.635	0.09310	N	1	P	0.47962	0.903	P	0.54174	0.744	T	0.15464	-1.0436	10	0.72032	D	0.01	.	11.6927	0.51525	0.0:0.0:0.3479:0.6521	.	2060	Q8IZT6	ASPM_HUMAN	E	2060	ENSP00000356379:K2060E	ENSP00000356379:K2060E	K	-	1	0	ASPM	195338826	0.000000	0.05858	0.006000	0.13384	0.666000	0.39218	0.655000	0.24933	1.034000	0.39945	0.515000	0.50301	AAA		0.328	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		10	127	0	0	0	0.000978	0	10	127				
PTPRC	5788	broad.mit.edu	37	1	198668740	198668740	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:198668740C>T	ENST00000367376.2	+	5	511	c.340C>T	c.(340-342)Cag>Tag	p.Q114*	PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Nonsense_Mutation_p.Q114*|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.Q116*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	114					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Q114*(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CGCAGACTCGCAGACGCCCTC	0.542											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001gur.1		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(340-342)CAG>TAG		protein tyrosine phosphatase, receptor type, C							118.0	122.0	121.0					1																	198668740		2203	4300	6503	SO:0001587	stop_gained	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198668740C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.340C>T	1.37:g.198668740C>T	ENSP00000356346:p.Gln114*		OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2100	PTPRC_uc001gus.1_Nonsense_Mutation_p.Q114*|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Nonsense_Mutation_p.Q50*|PTPRC_uc009wzf.1_Nonsense_Mutation_p.Q50*|PTPRC_uc010ppg.1_Nonsense_Mutation_p.Q50*|PTPRC_uc001guu.1_Nonsense_Mutation_p.Q157*|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA	p.Q114*	NM_002838	NP_002829	P08575	PTPRC_HUMAN			5	520	+			114			Extracellular (Potential).		A8K7W6|Q16614|Q9H0Y6	Nonsense_Mutation	SNP	ENST00000367376.2	37	c.340C>T		.	.	.	.	.	.	.	.	.	.	C	21.3	4.129714	0.77549	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000418674	.	.	.	5.07	4.15	0.48705	.	0.352162	0.21073	N	0.080629	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	8.4675	0.32964	0.0:0.8957:0.0:0.1043	.	.	.	.	X	116;50;114;114;155;48;114;48;114	.	ENSP00000271610:Q155X	Q	+	1	0	PTPRC	196935363	0.023000	0.18921	0.884000	0.34674	0.583000	0.36354	1.895000	0.39778	2.342000	0.79632	0.555000	0.69702	CAG		0.542	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				8	81	0	0	0	0.004482	0	8	81				
USH2A	7399	broad.mit.edu	37	1	215963401	215963401	+	Splice_Site	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:215963401C>G	ENST00000307340.3	-	51	10568	c.10182G>C	c.(10180-10182)aaG>aaC	p.K3394N	USH2A_ENST00000366943.2_Splice_Site_p.K3394N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3394					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.K3394N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATCAATTACCTTCATCATCA	0.338										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(10180-10182)AAG>AAC		usherin isoform B							67.0	69.0	68.0					1																	215963401		2203	4300	6503	SO:0001630	splice_region_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215963401C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10182+1G>C	1.37:g.215963401C>G		HNSCC(13;0.011)					p.K3394N	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	51	10569	-			3394			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10182G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371578	0.82573	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13778	2.57;2.56	5.76	5.76	0.90799	Fibronectin, type III (2);	0.141759	0.31772	N	0.007088	T	0.24275	0.0588	M	0.68317	2.08	0.58432	D	0.999998	P	0.45902	0.868	P	0.44860	0.462	T	0.00534	-1.1684	9	.	.	.	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	3394	O75445	USH2A_HUMAN	N	3394	ENSP00000305941:K3394N;ENSP00000355910:K3394N	.	K	-	3	2	USH2A	214030024	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.351000	0.66022	2.713000	0.92767	0.655000	0.94253	AAG		0.338	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	Missense_Mutation	8	38	0	0	0	0.00308	0	8	38				
MARC1	64757	broad.mit.edu	37	1	220970054	220970054	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:220970054G>T	ENST00000366910.5	+	3	705	c.519G>T	c.(517-519)ctG>ctT	p.L173L	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	173					detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)	p.L173L(1)									CCAGCTTCCTGAAGTCACAGC	0.602																																							uc001hms.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(517-519)CTG>CTT		MOCO sulphurase C-terminal domain containing 1							79.0	64.0	69.0					1																	220970054		2203	4300	6503	SO:0001819	synonymous_variant	64757						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220970054G>T	AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"""MOCO sulphurase C-terminal domain containing 1"""	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.519G>T	1.37:g.220970054G>T						MOSC1_uc001hmt.2_Silent_p.L173L	p.L173L	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN		GBM - Glioblastoma multiforme(131;0.0358)	3	767	+			173					A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Silent	SNP	ENST00000366910.5	37	c.519G>T	CCDS1526.1	.	.	.	.	.	.	.	.	.	.	G	1.224	-0.626182	0.03610	.	.	ENSG00000186205	ENST00000407981	.	.	.	4.82	1.82	0.25136	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.8457	9.4312	0.38610	0.0756:0.2718:0.6526:0.0	.	.	.	.	X	82	.	.	E	+	1	0	MOSC1	219036677	1.000000	0.71417	0.872000	0.34217	0.039000	0.13416	1.301000	0.33447	0.091000	0.17302	-0.878000	0.02970	GAA		0.602	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090904.1	NM_022746		8	23	1	0	3.09899e-07	0.004482	4.27887e-07	8	23				
ACBD3	64746	broad.mit.edu	37	1	226349305	226349305	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:226349305C>G	ENST00000366812.5	-	4	709	c.655G>C	c.(655-657)Gag>Cag	p.E219Q	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	219	Arg-rich.|Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)	p.E219Q(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		agcctttcctcttcttctctc	0.468																																							uc001hpy.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(655-657)GAG>CAG		acyl-Coenzyme A binding domain containing 3							130.0	105.0	113.0					1																	226349305		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226349305C>G	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.655G>C	1.37:g.226349305C>G	ENSP00000355777:p.Glu219Gln						p.E219Q	NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	4	702	-	Breast(184;0.158)		219			Arg-rich.|Potential.|Glu-rich.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.655G>C	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093880	0.36952	.	.	ENSG00000182827	ENST00000366812	T	0.55234	0.53	4.84	3.89	0.44902	.	0.368484	0.28989	N	0.013481	T	0.49779	0.1577	M	0.66939	2.045	0.40783	D	0.983199	B	0.14805	0.011	B	0.08055	0.003	T	0.51942	-0.8641	10	0.48119	T	0.1	-10.1013	11.4927	0.50389	0.0:0.8174:0.1826:0.0	.	219	Q9H3P7	GCP60_HUMAN	Q	219	ENSP00000355777:E219Q	ENSP00000355777:E219Q	E	-	1	0	ACBD3	224415928	0.350000	0.24878	0.427000	0.26684	0.952000	0.60782	1.527000	0.35975	1.296000	0.44742	0.563000	0.77884	GAG		0.468	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		17	36	0	0	0	0.004007	0	17	36				
TSNAX	7257	broad.mit.edu	37	1	231700291	231700291	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:231700291G>A	ENST00000366639.4	+	6	671	c.513G>A	c.(511-513)caG>caA	p.Q171Q	TSNAX-DISC1_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	171	Interaction with C1D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)	p.Q171Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				CTGATGCACAGGATAAGCAGT	0.413																																							uc001huw.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(511-513)CAG>CAA		translin-associated factor X							197.0	197.0	197.0					1																	231700291		2203	4300	6503	SO:0001819	synonymous_variant	7257				cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding	g.chr1:231700291G>A	X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.513G>A	1.37:g.231700291G>A						TSNAX-DISC1_uc010pwe.1_Intron|TSNAX-DISC1_uc010pwf.1_Intron|TSNAX-DISC1_uc010pwg.1_Intron|TSNAX-DISC1_uc010pwh.1_Intron|TSNAX-DISC1_uc010pwi.1_Intron|TSNAX-DISC1_uc010pwj.1_Intron|TSNAX-DISC1_uc010pwk.1_Intron|TSNAX-DISC1_uc010pwl.1_Intron	p.Q171Q	NM_005999	NP_005990	Q99598	TSNAX_HUMAN			6	671	+		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)	171			Interaction with C1D.		B1APC6	Silent	SNP	ENST00000366639.4	37	c.513G>A	CCDS1596.1																																																																																				0.413	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2	NM_005999		14	199	0	0	0	0.00245	0	14	199				
TARBP1	6894	broad.mit.edu	37	1	234584263	234584263	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:234584263G>C	ENST00000040877.1	-	11	1923	c.1924C>G	c.(1924-1926)Ctg>Gtg	p.L642V		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	642					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.L642V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCCACAGCCAGCAAGACCATC	0.368																																							uc001hwd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1924-1926)CTG>GTG		TAR RNA binding protein 1							110.0	105.0	107.0					1																	234584263		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234584263G>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1924C>G	1.37:g.234584263G>C	ENSP00000040877:p.Leu642Val						p.L642V	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		11	1924	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	642					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.1924C>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150708	0.57151	.	.	ENSG00000059588	ENST00000040877	T	0.42513	0.97	5.29	2.33	0.28932	.	0.000000	0.64402	D	0.000001	T	0.58963	0.2159	M	0.74258	2.255	0.42835	D	0.994034	D	0.76494	0.999	D	0.78314	0.991	T	0.58567	-0.7614	10	0.87932	D	0	-18.5417	7.9255	0.29872	0.3496:0.0:0.6504:0.0	.	642	Q13395	TARB1_HUMAN	V	642	ENSP00000040877:L642V	ENSP00000040877:L642V	L	-	1	2	TARBP1	232650886	0.983000	0.35010	0.996000	0.52242	0.955000	0.61496	0.927000	0.28818	0.336000	0.23639	0.655000	0.94253	CTG		0.368	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		8	49	0	0	0	0.006214	0	8	49				
ZP4	57829	broad.mit.edu	37	1	238053401	238053401	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:238053401G>C	ENST00000366570.4	-	2	409	c.251C>G	c.(250-252)tCc>tGc	p.S84C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	84					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.S84C(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CAACACCACGGAGCTGCCTGG	0.567																																					NSCLC(166;160 2029 11600 18754 19936)	NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(250-252)TCC>TGC		zona pellucida glycoprotein 4 preproprotein							109.0	95.0	100.0					1																	238053401		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053401G>C	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.251C>G	1.37:g.238053401G>C	ENSP00000355529:p.Ser84Cys					LOC100130331_uc010pyc.1_Intron	p.S84C	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		2	251	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	84			Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.251C>G	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706833	0.48412	.	.	ENSG00000116996	ENST00000366570	T	0.76448	-1.02	5.07	4.14	0.48551	.	0.264950	0.30820	N	0.008804	D	0.86560	0.5962	M	0.83012	2.62	0.09310	N	1	D	0.89917	1.0	D	0.72075	0.976	T	0.78216	-0.2290	10	0.72032	D	0.01	-13.2423	8.6693	0.34140	0.1085:0.0:0.8915:0.0	.	84	Q12836	ZP4_HUMAN	C	84	ENSP00000355529:S84C	ENSP00000355529:S84C	S	-	2	0	ZP4	236120024	0.895000	0.30542	0.018000	0.16275	0.046000	0.14306	2.903000	0.48711	1.096000	0.41439	0.655000	0.94253	TCC		0.567	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			13	87	0	0	0	0.001855	0	13	87				
CHRM3	1131	broad.mit.edu	37	1	240072435	240072435	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:240072435C>A	ENST00000255380.4	+	5	2463	c.1684C>A	c.(1684-1686)Cag>Aag	p.Q562K		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	562					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.Q562K(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCTGCTGTGCCAGTGTGACAA	0.517																																							uc001hyp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1684-1686)CAG>AAG		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						54.0	53.0	53.0					1																	240072435		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072435C>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1684C>A	1.37:g.240072435C>A	ENSP00000255380:p.Gln562Lys						p.Q562K	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2463	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	562			Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1684C>A	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095359	0.56075	.	.	ENSG00000133019	ENST00000255380	T	0.34472	1.36	5.58	5.58	0.84498	.	0.128466	0.56097	D	0.000040	T	0.33644	0.0870	L	0.28608	0.87	0.58432	D	0.999995	B	0.28055	0.199	B	0.31337	0.128	T	0.07927	-1.0747	10	0.45353	T	0.12	-14.108	19.5758	0.95444	0.0:1.0:0.0:0.0	.	562	P20309	ACM3_HUMAN	K	562	ENSP00000255380:Q562K	ENSP00000255380:Q562K	Q	+	1	0	CHRM3	238139058	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.632000	0.89209	0.655000	0.94253	CAG		0.517	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		6	69	1	0	3.59834e-05	0.001168	4.47562e-05	6	69				
CEP170	9859	broad.mit.edu	37	1	243327605	243327605	+	Silent	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:243327605T>C	ENST00000366542.1	-	13	3708	c.3657A>G	c.(3655-3657)tcA>tcG	p.S1219S	CEP170_ENST00000366544.1_Silent_p.S1121S|CEP170_ENST00000366543.1_Silent_p.S1121S|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1219	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.S1219S(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AGCCATGAGCTGAGGTCATAC	0.378																																							uc001hzs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(3655-3657)TCA>TCG		centrosomal protein 170kDa isoform alpha							73.0	65.0	67.0					1																	243327605		1844	4098	5942	SO:0001819	synonymous_variant	9859					centriole|microtubule|spindle		g.chr1:243327605T>C	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3657A>G	1.37:g.243327605T>C						CEP170_uc001hzt.2_Silent_p.S1121S|CEP170_uc001hzu.2_Silent_p.S1121S|CEP170_uc001hzv.1_Silent_p.S597S	p.S1219S	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	4065	-	all_neural(11;0.101)	all_cancers(173;0.003)	1219			Targeting to microtubules.|Targeting to centrosomes.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	c.3657A>G	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	T	1.538	-0.542608	0.04053	.	.	ENSG00000143702	ENST00000336415	.	.	.	4.96	2.39	0.29439	.	.	.	.	.	T	0.55049	0.1896	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	T	0.48603	-0.9021	4	.	.	.	-8.793	6.9155	0.24357	0.0:0.0801:0.294:0.6259	.	.	.	.	R	1183	.	.	Q	-	2	0	CEP170	241394228	0.003000	0.15002	0.742000	0.31022	0.961000	0.63080	-0.240000	0.08952	0.808000	0.34231	0.454000	0.30748	CAG		0.378	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		3	53	0	0	0	0.009096	0	3	53				
NLRP3	114548	broad.mit.edu	37	1	247588857	247588857	+	Silent	SNP	G	G	C	rs201955577		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:247588857G>C	ENST00000336119.3	+	3	2858	c.2112G>C	c.(2110-2112)gtG>gtC	p.V704V	NLRP3_ENST00000366497.2_Silent_p.V704V|NLRP3_ENST00000391827.2_Silent_p.V704V|NLRP3_ENST00000391828.3_Silent_p.V704V|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.V704V|NLRP3_ENST00000348069.2_Silent_p.V704V	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	704					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.V704V(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTGATATGGTGCAGTGTGTCC	0.547																																							uc001icr.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2110-2112)GTG>GTC		NLR family, pyrin domain containing 3 isoform a							140.0	126.0	131.0					1																	247588857		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588857G>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2112G>C	1.37:g.247588857G>C						NLRP3_uc001ics.2_Silent_p.V704V|NLRP3_uc001icu.2_Silent_p.V704V|NLRP3_uc001icw.2_Silent_p.V704V|NLRP3_uc001icv.2_Silent_p.V704V|NLRP3_uc010pyw.1_Silent_p.V702V|NLRP3_uc001ict.1_Silent_p.V702V	p.V704V	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	2250	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	704					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.2112G>C	CCDS1632.1																																																																																				0.547	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		3	40	0	0	0	0.000602	0	3	40				
OR2M2	391194	broad.mit.edu	37	1	248343636	248343636	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:248343636G>A	ENST00000359682.2	+	1	349	c.349G>A	c.(349-351)Gtt>Att	p.V117I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V117I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			TCTTTTGGCTGTTATGGCTTA	0.403																																							uc010pzf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(349-351)GTT>ATT		olfactory receptor, family 2, subfamily M,							206.0	220.0	215.0					1																	248343636		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343636G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.349G>A	1.37:g.248343636G>A	ENSP00000352710:p.Val117Ile						p.V117I	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	349	+	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)		117			Helical; Name=3; (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.349G>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	5.824	0.336218	0.11013	.	.	ENSG00000198601	ENST00000359682	T	0.04862	3.54	2.03	-0.334	0.12666	GPCR, rhodopsin-like superfamily (1);	0.744519	0.10380	N	0.681646	T	0.06781	0.0173	L	0.60904	1.88	0.09310	N	1	B	0.19706	0.038	B	0.23275	0.045	T	0.40850	-0.9541	10	0.32370	T	0.25	.	3.9033	0.09171	0.2465:0.0:0.5662:0.1872	.	117	Q96R28	OR2M2_HUMAN	I	117	ENSP00000352710:V117I	ENSP00000352710:V117I	V	+	1	0	OR2M2	246410259	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	1.410000	0.34691	-0.220000	0.09988	-0.396000	0.06452	GTT		0.403	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		41	293	0	0	0	0.00623	0	41	293				
OR2T12	127064	broad.mit.edu	37	1	248458109	248458109	+	Missense_Mutation	SNP	T	T	A	rs560039503	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:248458109T>A	ENST00000317996.1	-	1	771	c.772A>T	c.(772-774)Atg>Ttg	p.M258L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M258L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TTGGGTCTCATATAGGTAAAA	0.488																																							uc010pzj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(772-774)ATG>TTG		olfactory receptor, family 2, subfamily T,							112.0	112.0	112.0					1																	248458109		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458109T>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.772A>T	1.37:g.248458109T>A	ENSP00000324583:p.Met258Leu						p.M258L	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	772	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		258			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.772A>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	t	4.204	0.036520	0.08148	.	.	ENSG00000177201	ENST00000317996	T	0.31247	1.5	1.55	-0.0983	0.13629	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40064	U	0.001186	T	0.11836	0.0288	N	0.05351	-0.065	0.09310	N	1	B	0.20052	0.041	B	0.25405	0.06	T	0.19321	-1.0309	10	0.22706	T	0.39	.	4.1069	0.10040	0.0:0.1485:0.3828:0.4686	.	258	Q8NG77	O2T12_HUMAN	L	258	ENSP00000324583:M258L	ENSP00000324583:M258L	M	-	1	0	OR2T12	246524732	0.000000	0.05858	0.241000	0.24154	0.061000	0.15899	-2.311000	0.01128	0.540000	0.28808	0.147000	0.16070	ATG		0.488	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		9	103	0	0	0	0.004482	0	9	103				
OR2T10	127069	broad.mit.edu	37	1	248756151	248756151	+	Missense_Mutation	SNP	C	C	A	rs201928650		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr1:248756151C>A	ENST00000330500.2	-	1	949	c.919G>T	c.(919-921)Gtg>Ttg	p.V307L	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V307L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTTTCTGCACGCTCAGCATT	0.393																																							uc010pzn.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(919-921)GTG>TTG		olfactory receptor, family 2, subfamily T,							49.0	57.0	54.0					1																	248756151		2038	4234	6272	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756151C>A		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.919G>T	1.37:g.248756151C>A	ENSP00000329210:p.Val307Leu						p.V307L	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	919	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		307			Cytoplasmic (Potential).		B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.919G>T	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.589506	0.00864	.	.	ENSG00000184022	ENST00000330500	T	0.36157	1.27	1.19	-1.06	0.10002	.	.	.	.	.	T	0.16214	0.0390	N	0.10782	0.045	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17198	-1.0377	9	0.49607	T	0.09	.	2.9757	0.05936	0.4353:0.3957:0.0:0.1691	.	307	Q8NGZ9	O2T10_HUMAN	L	307	ENSP00000329210:V307L	ENSP00000329210:V307L	V	-	1	0	OR2T10	246822774	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.079000	0.01369	-0.515000	0.06479	-2.674000	0.00144	GTG		0.393	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		10	99	1	0	3.86212e-05	0.008291	4.77085e-05	10	99				
ITIH5	80760	broad.mit.edu	37	10	7657998	7657998	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:7657998C>A	ENST00000256861.6	-	7	964	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L	ITIH5_ENST00000397145.2_Missense_Mutation_p.V296L|ITIH5_ENST00000397146.2_Missense_Mutation_p.V296L|ITIH5_ENST00000446830.2_Missense_Mutation_p.V78L|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.V82L	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	296	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V296L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACGAATACCACATTCTTGGGT	0.473																																							uc001ijq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(886-888)GTG>TTG		inter-alpha trypsin inhibitor heavy chain							143.0	134.0	137.0					10																	7657998		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7657998C>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.886G>T	10.37:g.7657998C>A	ENSP00000256861:p.Val296Leu					ITIH5_uc001ijp.2_Missense_Mutation_p.V82L|ITIH5_uc001ijr.1_Missense_Mutation_p.V296L	p.V296L	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			7	965	-			296			VWFA.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.886G>T		.	.	.	.	.	.	.	.	.	.	C	28.2	4.896730	0.91962	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	6.08	5.18	0.71444	von Willebrand factor, type A (3);	0.055188	0.64402	D	0.000001	D	0.90974	0.7162	.	.	.	0.53005	D	0.999962	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.984;0.999;0.998	D	0.91549	0.5255	9	0.52906	T	0.07	-25.1374	14.8153	0.70031	0.0:0.9306:0.0:0.0694	.	296;296;82	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	L	296;296;82;78;296	ENSP00000256861:V296L;ENSP00000380333:V296L;ENSP00000298441:V82L;ENSP00000387969:V78L;ENSP00000380332:V296L	ENSP00000256861:V296L	V	-	1	0	ITIH5	7698004	1.000000	0.71417	0.992000	0.48379	0.902000	0.53008	5.542000	0.67218	1.575000	0.49775	0.655000	0.94253	GTG		0.473	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		4	84	1	0	0.00024832	0.009096	0.000291212	4	84				
ITIH2	3698	broad.mit.edu	37	10	7785208	7785208	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:7785208C>G	ENST00000358415.4	+	17	2361	c.2195C>G	c.(2194-2196)tCt>tGt	p.S732C	ITIH2_ENST00000379587.4_Missense_Mutation_p.S721C	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	732					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S732C(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AACCTGGTTTCTGACCCAGAA	0.353																																							uc001ijs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2194-2196)TCT>TGT		inter-alpha globulin inhibitor H2 polypeptide							82.0	96.0	91.0					10																	7785208		2203	4299	6502	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7785208C>G	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2195C>G	10.37:g.7785208C>G	ENSP00000351190:p.Ser732Cys						p.S732C	NM_002216	NP_002207	P19823	ITIH2_HUMAN			17	2357	+			732					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.2195C>G	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363598	0.82353	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.01998	4.51;4.51	5.72	5.72	0.89469	.	0.122706	0.56097	D	0.000021	T	0.13628	0.0330	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00037	-1.2249	10	0.87932	D	0	-20.4884	19.8968	0.96969	0.0:1.0:0.0:0.0	.	732	P19823	ITIH2_HUMAN	C	732;721	ENSP00000351190:S732C;ENSP00000368906:S721C	ENSP00000351190:S732C	S	+	2	0	ITIH2	7825214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.274000	0.78538	2.691000	0.91804	0.655000	0.94253	TCT		0.353	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		11	167	0	0	0	0.001368	0	11	167				
RBP3	5949	broad.mit.edu	37	10	48388080	48388080	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:48388080A>C	ENST00000224600.4	-	1	2911	c.2798T>G	c.(2797-2799)cTg>cGg	p.L933R	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	933	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.L933R(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTTGGCACGCAGAGCCACTAT	0.632																																							uc001jez.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(2797-2799)CTG>CGG		retinol-binding protein 3 precursor	Vitamin A(DB00162)						54.0	52.0	52.0					10																	48388080		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388080A>C	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2798T>G	10.37:g.48388080A>C	ENSP00000224600:p.Leu933Arg						p.L933R	NM_002900	NP_002891	P10745	RET3_HUMAN			1	2912	-			933			4 X approximate tandem repeats.|4.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2798T>G	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033065	0.54896	.	.	ENSG00000107618	ENST00000224600	T	0.65178	-0.14	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83775	0.0222	10	0.87932	D	0	-18.9257	14.9032	0.70696	1.0:0.0:0.0:0.0	.	933	P10745	RET3_HUMAN	R	933	ENSP00000224600:L933R	ENSP00000224600:L933R	L	-	2	0	RBP3	48008086	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.530000	0.90606	2.133000	0.65898	0.533000	0.62120	CTG		0.632	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		7	37	0	0	0	0.006214	0	7	37				
DRGX	644168	broad.mit.edu	37	10	50599243	50599243	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:50599243C>A	ENST00000374139.2	-	2	109	c.99G>T	c.(97-99)caG>caT	p.Q33H	DRGX_ENST00000434016.1_Missense_Mutation_p.Q38H			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	33					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.Q38H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GGTTCCGGCGCTGTTTTCTAC	0.502																																							uc010qgq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(112-114)CAG>CAT		dorsal root ganglia homeobox							59.0	59.0	59.0					10																	50599243		1923	4121	6044	SO:0001583	missense	644168				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:50599243C>A		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.99G>T	10.37:g.50599243C>A	ENSP00000363254:p.Gln33His						p.Q38H	NM_001080520	NP_001073989	A6NNA5	DRGX_HUMAN			2	114	-			38						Missense_Mutation	SNP	ENST00000374139.2	37	c.114G>T		.	.	.	.	.	.	.	.	.	.	C	15.55	2.867304	0.51588	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.95821	-3.82;-3.82	5.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.94364	0.8188	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.91990	0.5602	10	0.32370	T	0.25	.	9.8927	0.41300	0.0:0.8211:0.0:0.1789	.	38	C9JW76	.	H	33;38	ENSP00000363254:Q33H;ENSP00000401653:Q38H	ENSP00000363254:Q33H	Q	-	3	2	DRGX	50269249	0.996000	0.38824	1.000000	0.80357	0.986000	0.74619	0.373000	0.20484	2.756000	0.94617	0.561000	0.74099	CAG		0.502	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970		4	12	1	0	0.000602214	0.000602	0.000690978	4	12				
SLC18A3	6572	broad.mit.edu	37	10	50820238	50820238	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:50820238G>T	ENST00000374115.3	+	1	1892	c.1452G>T	c.(1450-1452)gtG>gtT	p.V484V	CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	484					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.V484V(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						AGCGCGATGTGCTGCTTGATG	0.667																																							uc001jhw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1450-1452)GTG>GTT		vesicular acetylcholine transporter							66.0	57.0	60.0					10																	50820238		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820238G>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1452G>T	10.37:g.50820238G>T						CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.V484V	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1892	+			484			Cytoplasmic (Potential).		B2R7S1	Silent	SNP	ENST00000374115.3	37	c.1452G>T	CCDS7231.1																																																																																				0.667	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		9	38	1	0	9.70103e-10	0.008291	1.44555e-09	9	38				
PCDH15	65217	broad.mit.edu	37	10	55568824	55568825	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:55568824_55568825TG>GT	ENST00000395445.1	-	36	5379_5380	c.4985_4986CA>AC	c.(4984-4986)gCA>gAC	p.A1662D	PCDH15_ENST00000395442.1_Missense_Mutation_p.A527D|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.A858D|PCDH15_ENST00000395440.1_Missense_Mutation_p.A596D|PCDH15_ENST00000373965.2_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCCTTCTTCTTGCAAGCACAAT	0.465										HNSCC(58;0.16)																													uc010qhs.1		NA																	0		p.P1667H(1)		pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4999-5001)GCA>GAC		protocadherin 15 isoform CD2-1 precursor																																				SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55568824_55568825TG>GT	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4985_4986delinsGT	10.37:g.55568824_55568825delinsGT	ENSP00000378832:p.Ala1662Asp	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.A1660D|PCDH15_uc010qhu.1_3'UTR	p.A1667D	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			37	5395_5396	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	DNP	ENST00000395445.1	37	c.5000_5001CA>AC																																																																																					0.465	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		7	19	0	0	0	0.004672	0	7	19				
BICC1	80114	broad.mit.edu	37	10	60549174	60549174	+	Silent	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:60549174T>A	ENST00000373886.3	+	7	757	c.753T>A	c.(751-753)acT>acA	p.T251T		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	251					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.T251T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATGGTGCTACTGTCATAGTAC	0.373																																							uc001jki.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(751-753)ACT>ACA		bicaudal C homolog 1							128.0	122.0	124.0					10																	60549174		2203	4300	6503	SO:0001819	synonymous_variant	80114				multicellular organismal development		RNA binding	g.chr10:60549174T>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.753T>A	10.37:g.60549174T>A							p.T251T	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			7	753	+			251						Silent	SNP	ENST00000373886.3	37	c.753T>A	CCDS31206.1																																																																																				0.373	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		26	87	0	0	0	0.007291	0	26	87				
CTNNA3	29119	broad.mit.edu	37	10	67726441	67726441	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:67726441G>A	ENST00000433211.2	-	17	2503	c.2329C>T	c.(2329-2331)Cac>Tac	p.H777Y	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.H777Y	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.H777Y(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTCAGTTGGTGGGAGTAGAAC	0.423																																							uc009xpn.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(2329-2331)CAC>TAC		catenin, alpha 3							108.0	102.0	104.0					10																	67726441		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67726441G>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2329C>T	10.37:g.67726441G>A	ENSP00000389714:p.His777Tyr					CTNNA3_uc001jmw.2_Missense_Mutation_p.H777Y	p.H777Y	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			17	2452	-			777						Missense_Mutation	SNP	ENST00000433211.2	37	c.2329C>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884007	0.91814	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.55413	0.52;0.52;0.52	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000008	T	0.77274	0.4106	M	0.88570	2.965	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.80830	-0.1207	10	0.62326	D	0.03	-21.9552	17.0529	0.86524	0.0:0.0:1.0:0.0	.	777	Q9UI47	CTNA3_HUMAN	Y	777;777;116	ENSP00000389714:H777Y;ENSP00000362849:H777Y;ENSP00000362840:H116Y	ENSP00000362840:H116Y	H	-	1	0	CTNNA3	67396447	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.813000	0.99286	2.699000	0.92147	0.650000	0.86243	CAC		0.423	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		17	54	0	0	0	0.006122	0	17	54				
USP54	159195	broad.mit.edu	37	10	75283501	75283501	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:75283501C>G	ENST00000339859.4	-	16	2302	c.2202G>C	c.(2200-2202)gaG>gaC	p.E734D	USP54_ENST00000408019.1_Missense_Mutation_p.E734D|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.E584D|USP54_ENST00000422491.2_5'Flank			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	734					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.E734D(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TAGAAGATATCTCCTCACCTG	0.438																																					Colon(195;880 2046 8854 25025 38456)	Colon(195;880 2046 8854 25025 38456)	uc001juo.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|lung(2)|kidney(1)	6						c.(2200-2202)GAG>GAC		ubiquitin specific peptidase 54							158.0	163.0	161.0					10																	75283501		1927	4139	6066	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75283501C>G	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2202G>C	10.37:g.75283501C>G	ENSP00000345216:p.Glu734Asp					USP54_uc010qkk.1_5'UTR|USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.E734D	p.E734D	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			15	2219	-	Prostate(51;0.0112)		734					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.2202G>C	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	C	7.735	0.700160	0.15106	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547	T;T;T	0.25414	1.81;1.81;1.8	5.74	2.8	0.32819	.	1.657730	0.03704	U	0.249191	T	0.21022	0.0506	L	0.36672	1.1	0.80722	D	1	B;P	0.39748	0.003;0.686	B;B	0.32090	0.006;0.14	T	0.02774	-1.1112	10	0.35671	T	0.21	-10.5221	9.0803	0.36547	0.0:0.6325:0.0:0.3675	.	734;734	Q70EL1-6;Q70EL1	.;UBP54_HUMAN	D	734;734;584	ENSP00000345216:E734D;ENSP00000386080:E734D;ENSP00000408714:E584D	ENSP00000345216:E734D	E	-	3	2	USP54	74953507	0.032000	0.19561	0.196000	0.23383	0.136000	0.21042	0.151000	0.16283	0.314000	0.23086	-0.355000	0.07637	GAG		0.438	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		50	158	0	0	0	0.00361	0	50	158				
NOC3L	64318	broad.mit.edu	37	10	96099595	96099595	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:96099595C>T	ENST00000371361.3	-	17	1963	c.1863G>A	c.(1861-1863)caG>caA	p.Q621Q	NOC3L_ENST00000371350.1_Silent_p.Q621Q|NOC3L_ENST00000543788.1_Silent_p.Q359Q	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	621					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.Q621Q(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CAAGAGCTCGCTGCTGAGAAA	0.418																																							uc001kjq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1861-1863)CAG>CAA		nucleolar complex associated 3 homolog							112.0	104.0	107.0					10																	96099595		2203	4300	6503	SO:0001819	synonymous_variant	64318					nuclear speck|nucleolus	binding	g.chr10:96099595C>T	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1863G>A	10.37:g.96099595C>T							p.Q621Q	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN			17	1951	-		Colorectal(252;0.0897)	621					Q9H5M6|Q9H9D8	Silent	SNP	ENST00000371361.3	37	c.1863G>A	CCDS7433.1																																																																																				0.418	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		14	43	0	0	0	0.003163	0	14	43				
RRP12	23223	broad.mit.edu	37	10	99126286	99126286	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:99126286T>C	ENST00000370992.4	-	28	3419	c.3308A>G	c.(3307-3309)cAg>cGg	p.Q1103R	RRP12_ENST00000414986.1_Missense_Mutation_p.Q1042R|RRP12_ENST00000315563.6_Missense_Mutation_p.Q1003R|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.Q821R	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1103						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.Q1103R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCGGCTCCTCTGTCGTGCCAG	0.602																																							uc001knf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3307-3309)CAG>CGG		ribosomal RNA processing 12 homolog isoform 1							105.0	101.0	102.0					10																	99126286		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99126286T>C		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3308A>G	10.37:g.99126286T>C	ENSP00000360031:p.Gln1103Arg					RRP12_uc001kne.2_Missense_Mutation_p.Q118R|RRP12_uc009xvl.2_Missense_Mutation_p.Q220R|RRP12_uc009xvm.2_Missense_Mutation_p.Q821R|RRP12_uc010qou.1_Missense_Mutation_p.Q1042R|RRP12_uc009xvn.2_Missense_Mutation_p.Q1003R	p.Q1103R	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	28	3447	-		Colorectal(252;0.162)	1103					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.3308A>G	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192868	0.38707	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.29917	1.55;1.56;1.57;1.57	5.05	5.05	0.67936	.	0.164806	0.56097	D	0.000037	T	0.30070	0.0753	L	0.53729	1.69	0.53688	D	0.999978	B;B;B;B	0.25809	0.036;0.135;0.02;0.003	B;B;B;B	0.24701	0.015;0.055;0.026;0.006	T	0.06285	-1.0835	10	0.21540	T	0.41	-18.4143	14.8089	0.69979	0.0:0.0:0.0:1.0	.	1042;1003;821;1103	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	R	1103;1003;1042;821	ENSP00000360031:Q1103R;ENSP00000324315:Q1003R;ENSP00000414863:Q1042R;ENSP00000446184:Q821R	ENSP00000324315:Q1003R	Q	-	2	0	RRP12	99116276	1.000000	0.71417	0.985000	0.45067	0.565000	0.35776	3.417000	0.52714	1.901000	0.55032	0.459000	0.35465	CAG		0.602	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		28	88	0	0	0	0.007291	0	28	88				
LZTS2	84445	broad.mit.edu	37	10	102763281	102763281	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:102763281G>A	ENST00000370220.1	+	2	3489	c.426G>A	c.(424-426)ctG>ctA	p.L142L	LZTS2_ENST00000370223.3_Silent_p.L142L					leucine zipper, putative tumor suppressor 2									p.L142L(1)|p.L5L(1)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AGAAGATCCTGATCCGCCCAA	0.602																																					Esophageal Squamous(8;38 437 13604 19902 37640)	Esophageal Squamous(8;38 437 13604 19902 37640)	uc001ksj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)|breast(1)	4						c.(424-426)CTG>CTA		leucine zipper, putative tumor suppressor 2							76.0	80.0	79.0					10																	102763281		2203	4300	6503	SO:0001819	synonymous_variant	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763281G>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.426G>A	10.37:g.102763281G>A						LZTS2_uc010qpw.1_Silent_p.L142L|LZTS2_uc001ksk.2_Silent_p.L142L|LZTS2_uc001ksl.2_Silent_p.L142L|LZTS2_uc001ksm.2_RNA	p.L142L	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	3	495	+			142			Required for centrosomal localization (By similarity).			Silent	SNP	ENST00000370220.1	37	c.426G>A	CCDS7507.1																																																																																				0.602	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		30	79	0	0	0	0.002096	0	30	79				
CALHM1	255022	broad.mit.edu	37	10	105215108	105215108	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:105215108C>G	ENST00000329905.5	-	2	1088	c.952G>C	c.(952-954)Gag>Cag	p.E318Q	RP11-225H22.4_ENST00000411906.1_RNA|CALHM2_ENST00000369788.3_5'Flank|CALHM2_ENST00000393235.1_5'Flank	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	318					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)	p.E318Q(1)		large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GGTGGCTCCTCCTGGCCCAGC	0.647																																							uc001kxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(952-954)GAG>CAG		calcium homeostasis modulator 1							36.0	30.0	32.0					10																	105215108		2203	4296	6499	SO:0001583	missense	255022					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	g.chr10:105215108C>G	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.952G>C	10.37:g.105215108C>G	ENSP00000329926:p.Glu318Gln					CALHM2_uc001kxa.2_5'Flank|CALHM2_uc001kxc.2_5'Flank|CALHM2_uc001kxb.2_5'Flank|CALHM2_uc001kxd.1_5'Flank	p.E318Q	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN			2	1092	-			318					Q5W091	Missense_Mutation	SNP	ENST00000329905.5	37	c.952G>C	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	C	5.924	0.354562	0.11239	.	.	ENSG00000185933	ENST00000329905	T	0.18338	2.22	4.8	3.89	0.44902	.	0.863815	0.10532	N	0.663683	T	0.07908	0.0198	N	0.08118	0	0.23661	N	0.997173	B	0.25609	0.13	B	0.23574	0.047	T	0.39333	-0.9619	10	0.17369	T	0.5	-17.2577	5.5409	0.17038	0.1435:0.64:0.139:0.0776	.	318	Q8IU99	CAHM1_HUMAN	Q	318	ENSP00000329926:E318Q	ENSP00000329926:E318Q	E	-	1	0	CALHM1	105205098	0.994000	0.37717	1.000000	0.80357	0.048000	0.14542	2.031000	0.41117	1.141000	0.42275	0.462000	0.41574	GAG		0.647	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		4	26	0	0	0	0.009096	0	4	26				
SORCS3	22986	broad.mit.edu	37	10	106917010	106917010	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:106917010G>T	ENST00000369701.3	+	10	1824	c.1597G>T	c.(1597-1599)Gac>Tac	p.D533Y		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	533					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.D533Y(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCCGGATGTGGACCTGAGAGG	0.567																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1597-1599)GAC>TAC		VPS10 domain receptor protein SORCS 3 precursor							93.0	82.0	86.0					10																	106917010		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106917010G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1597G>T	10.37:g.106917010G>T	ENSP00000358715:p.Asp533Tyr						p.D533Y	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	10	1824	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	533			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1597G>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510386	0.85389	.	.	ENSG00000156395	ENST00000369701	T	0.45668	0.89	6.04	6.04	0.98038	VPS10 (1);	0.051636	0.85682	D	0.000000	T	0.73385	0.3580	M	0.93808	3.46	0.58432	D	0.999997	D	0.89917	1.0	D	0.75484	0.986	T	0.79680	-0.1702	9	.	.	.	.	15.6964	0.77502	0.0668:0.0:0.9332:0.0	.	533	Q9UPU3	SORC3_HUMAN	Y	533	ENSP00000358715:D533Y	.	D	+	1	0	SORCS3	106907000	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.683000	0.74533	2.873000	0.98535	0.563000	0.77884	GAC		0.567	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		14	37	1	0	9.31168e-06	0.001855	1.21334e-05	14	37				
TACC2	10579	broad.mit.edu	37	10	123845089	123845089	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:123845089C>T	ENST00000369005.1	+	4	3414	c.3074C>T	c.(3073-3075)tCc>tTc	p.S1025F	TACC2_ENST00000334433.3_Missense_Mutation_p.S1025F|TACC2_ENST00000515273.1_Missense_Mutation_p.S1025F|TACC2_ENST00000453444.2_Missense_Mutation_p.S1025F|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S1025F|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1025					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)	p.S1025F(1)		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)				GATGGTTGTTCCCCACTCTGG	0.547																																							uc001lfv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3073-3075)TCC>TTC		transforming, acidic coiled-coil containing							31.0	34.0	33.0					10																	123845089		2203	4298	6501	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123845089C>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.3074C>T	10.37:g.123845089C>T	ENSP00000358001:p.Ser1025Phe					TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.S1025F|TACC2_uc010qtv.1_Missense_Mutation_p.S1025F	p.S1025F	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	3434	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1025					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.3074C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016030	0.35606	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03242	4.01;4.0;4.0;4.01;4.0	5.8	3.83	0.44106	.	0.448244	0.16774	N	0.200090	T	0.02455	0.0075	N	0.14661	0.345	0.09310	N	1	P;P;P	0.41450	0.75;0.75;0.75	B;B;B	0.33846	0.171;0.171;0.171	T	0.45963	-0.9225	10	0.72032	D	0.01	-4.4296	10.0172	0.42022	0.1553:0.695:0.1497:0.0	.	1025;1025;1025	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	F	1025;1025;1025;1025;1025;1015	ENSP00000358001:S1025F;ENSP00000424467:S1025F;ENSP00000427618:S1025F;ENSP00000334280:S1025F;ENSP00000395048:S1025F	ENSP00000334280:S1025F	S	+	2	0	TACC2	123835079	0.003000	0.15002	0.010000	0.14722	0.017000	0.09413	0.793000	0.26944	1.445000	0.47624	0.549000	0.68633	TCC		0.547	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			7	24	0	0	0	0.00308	0	7	24				
MKI67	4288	broad.mit.edu	37	10	129913972	129913972	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr10:129913972C>A	ENST00000368654.3	-	7	1075	c.700G>T	c.(700-702)Gaa>Taa	p.E234*	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	234					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E234*(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AAGGGAGATTCATTTTTTTTG	0.343																																							uc001lke.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(700-702)GAA>TAA		antigen identified by monoclonal antibody Ki-67							77.0	75.0	76.0					10																	129913972		2203	4300	6503	SO:0001587	stop_gained	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913972C>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.700G>T	10.37:g.129913972C>A	ENSP00000357643:p.Glu234*					MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	p.E234*	NM_002417	NP_002408	P46013	KI67_HUMAN			7	895	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	234					Q5VWH2	Nonsense_Mutation	SNP	ENST00000368654.3	37	c.700G>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	39	7.767017	0.98477	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	.	.	.	3.69	3.69	0.42338	.	0.837667	0.10684	N	0.646009	.	.	.	.	.	.	0.32951	D	0.5197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2841	0.60232	0.0:1.0:0.0:0.0	.	.	.	.	X	234	.	.	E	-	1	0	MKI67	129803962	0.021000	0.18746	0.136000	0.22124	0.919000	0.55068	1.320000	0.33666	2.381000	0.81170	0.655000	0.94253	GAA		0.343	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		12	40	1	0	6.40141e-05	0.000978	7.8539e-05	12	40				
CTSD	1509	broad.mit.edu	37	11	1774823	1774823	+	Missense_Mutation	SNP	C	C	A	rs121912790		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:1774823C>A	ENST00000236671.2	-	9	1281	c.1149G>T	c.(1147-1149)tgG>tgT	p.W383C	RP11-295K3.1_ENST00000427721.1_Intron	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	383			W -> C (in CLN10). {ECO:0000269|PubMed:16685649}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)	p.W383C(1)		endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CGCCCAGGATCCAGAGTGGCC	0.652																																							uc001luc.1		NA																	1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM061696	CTSD	M	rs121912790	c.(1147-1149)TGG>TGT		cathepsin D preproprotein	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						54.0	56.0	55.0					11																	1774823		2202	4299	6501	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1774823C>A	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.1149G>T	11.37:g.1774823C>A	ENSP00000236671:p.Trp383Cys					CTSD_uc009yda.1_RNA	p.W383C	NM_001909	NP_001900	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	9	1282	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	383		W -> C (in CLN10).			Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.1149G>T	CCDS7725.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.215068	0.79352	.	.	ENSG00000117984	ENST00000236671;ENST00000429746	T;T	0.61040	0.14;0.25	3.76	3.76	0.43208	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.87144	0.6104	H	0.99830	4.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93495	0.6839	10	0.87932	D	0	.	16.1634	0.81734	0.0:1.0:0.0:0.0	.	383	P07339	CATD_HUMAN	C	383;160	ENSP00000236671:W383C;ENSP00000402586:W160C	ENSP00000236671:W383C	W	-	3	0	CTSD	1731399	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.492000	0.66893	2.122000	0.65172	0.313000	0.20887	TGG		0.652	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		11	59	1	0	0.000673444	0.008291	0.000770748	11	59				
OR51F2	119694	broad.mit.edu	37	11	4843137	4843137	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:4843137G>T	ENST00000322110.5	+	1	587	c.522G>T	c.(520-522)atG>atT	p.M174I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M174I(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCAGTCATGCTCTTTGTCA	0.448																																							uc010qyn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(520-522)ATG>ATT		olfactory receptor, family 51, subfamily F,							338.0	290.0	306.0					11																	4843137		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4843137G>T	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.522G>T	11.37:g.4843137G>T	ENSP00000323952:p.Met174Ile						p.M174I	NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	522	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	174			Helical; Name=4; (Potential).		Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.522G>T	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.505119	0.00992	.	.	ENSG00000176925	ENST00000322110	T	0.00051	8.81	4.5	-1.52	0.08637	GPCR, rhodopsin-like superfamily (1);	0.931130	0.08701	U	0.906393	T	0.00039	0.0001	N	0.00514	-1.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.01762	-1.1279	10	0.19590	T	0.45	.	3.3265	0.07068	0.0816:0.2326:0.2227:0.4631	.	174	Q8NH61	O51F2_HUMAN	I	174	ENSP00000323952:M174I	ENSP00000323952:M174I	M	+	3	0	OR51F2	4799713	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-1.097000	0.03349	-0.048000	0.13401	0.561000	0.74099	ATG		0.448	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		25	203	1	0	6.36457e-07	0.003954	8.68159e-07	25	203				
UBQLN3	50613	broad.mit.edu	37	11	5529338	5529338	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:5529338C>T	ENST00000311659.4	-	2	1598	c.1451G>A	c.(1450-1452)aGa>aAa	p.R484K	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	484										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCAGAGATCTTGGATAAGC	0.552																																					Ovarian(72;684 1260 12332 41642 52180)	Ovarian(72;684 1260 12332 41642 52180)	uc001may.1		NA																	0				ovary(3)	3						c.(1450-1452)AGA>AAA		ubiquilin 3							58.0	64.0	62.0					11																	5529338		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529338C>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1451G>A	11.37:g.5529338C>T	ENSP00000347997:p.Arg484Lys					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	p.R484K	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1537	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	484					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.1451G>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	4.083	0.013262	0.07912	.	.	ENSG00000175520	ENST00000311659	T	0.35789	1.29	4.69	3.76	0.43208	.	0.173472	0.27700	N	0.018201	T	0.28830	0.0715	M	0.79123	2.44	0.18873	N	0.999986	P	0.41673	0.759	B	0.26416	0.069	T	0.27157	-1.0082	10	0.13108	T	0.6	-3.9859	9.8589	0.41103	0.2043:0.7957:0.0:0.0	.	484	Q9H347	UBQL3_HUMAN	K	484	ENSP00000347997:R484K	ENSP00000347997:R484K	R	-	2	0	UBQLN3	5485914	0.776000	0.28616	0.961000	0.40146	0.168000	0.22595	2.130000	0.42064	1.133000	0.42147	0.655000	0.94253	AGA		0.552	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		7	66	0	0	0	0.004482	0	7	66				
UBQLNL	143630	broad.mit.edu	37	11	5537461	5537461	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:5537461C>A	ENST00000380184.1	-	1	474	c.211G>T	c.(211-213)Gtg>Ttg	p.V71L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	71	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.							p.V71L(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AAGACCAGCACTAGTTGGTCC	0.498																																							uc001maz.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(1)	3						c.(211-213)GTG>TTG		ubiquilin-like							201.0	157.0	172.0					11																	5537461		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5537461C>A	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.211G>T	11.37:g.5537461C>A	ENSP00000369531:p.Val71Leu					HBG2_uc001mak.1_Intron	p.V71L	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	496	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	71			Ubiquitin-like.		Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.211G>T	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308739	0.81247	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.73469	-0.75	5.53	5.53	0.82687	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.41500	D	0.000864	D	0.86112	0.5855	M	0.75777	2.31	0.39410	D	0.966746	D	0.76494	0.999	D	0.85130	0.997	D	0.88077	0.2804	10	0.87932	D	0	.	16.9541	0.86253	0.0:1.0:0.0:0.0	.	71	Q8IYU4	UBQLN_HUMAN	L	71	ENSP00000369531:V71L	ENSP00000369531:V71L	V	-	1	0	UBQLNL	5494037	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	5.033000	0.64146	2.577000	0.86979	0.655000	0.94253	GTG		0.498	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		9	70	1	0	0.000442599	0.006214	0.00050913	9	70				
OR52N1	79473	broad.mit.edu	37	11	5809298	5809298	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:5809298A>G	ENST00000317078.1	-	1	748	c.749T>C	c.(748-750)aTa>aCa	p.I250T	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I250T(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGTGAGGACTATGGCACAGAA	0.448																																							uc010qzo.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(748-750)ATA>ACA		olfactory receptor, family 52, subfamily N,							164.0	152.0	156.0					11																	5809298		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809298A>G	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.749T>C	11.37:g.5809298A>G	ENSP00000322823:p.Ile250Thr					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.I250T	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	749	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	250			Helical; Name=6; (Potential).		Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.749T>C	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.875251	0.51695	.	.	ENSG00000181001	ENST00000317078	T	0.00220	8.52	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	D	0.000638	T	0.00784	0.0026	M	0.93507	3.425	0.25775	N	0.984793	D	0.89917	1.0	D	0.97110	1.0	T	0.14868	-1.0457	10	0.87932	D	0	.	13.4385	0.61099	1.0:0.0:0.0:0.0	.	250	Q8NH53	O52N1_HUMAN	T	250	ENSP00000322823:I250T	ENSP00000322823:I250T	I	-	2	0	OR52N1	5765874	0.082000	0.21442	0.926000	0.36857	0.862000	0.49288	2.962000	0.49176	2.092000	0.63282	0.496000	0.49642	ATA		0.448	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		10	78	0	0	0	0.008291	0	10	78				
NLRP14	338323	broad.mit.edu	37	11	7070902	7070902	+	Splice_Site	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:7070902G>T	ENST00000299481.4	+	6	2470	c.2124G>T	c.(2122-2124)ctG>ctT	p.L708L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	708					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.L708L(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TCTTCTGAAGGTTGAAATTTA	0.343																																							uc001mfb.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(2122-2124)CTG>CTT		NLR family, pyrin domain containing 14							136.0	135.0	135.0					11																	7070902		2201	4296	6497	SO:0001630	splice_region_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7070902G>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2124-1G>T	11.37:g.7070902G>T							p.L708L	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	6	2447	+			708					Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.2124G>T	CCDS7776.1																																																																																				0.343	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822	Silent	7	107	1	0	0.00448238	0.004482	0.00490617	7	107				
OLFML1	283298	broad.mit.edu	37	11	7530705	7530705	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:7530705G>A	ENST00000329293.3	+	3	889	c.495G>A	c.(493-495)atG>atA	p.M165I	OLFML1_ENST00000530135.1_Missense_Mutation_p.M165I|OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	165	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)		p.M165I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCTCTTGGATGAAAGATGCTG	0.413																																							uc001mfi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(493-495)ATG>ATA		olfactomedin-like 1 precursor							117.0	114.0	115.0					11																	7530705		2201	4296	6497	SO:0001583	missense	283298					extracellular region		g.chr11:7530705G>A	AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.495G>A	11.37:g.7530705G>A	ENSP00000332511:p.Met165Ile					OLFML1_uc010raz.1_Missense_Mutation_p.M29I|OLFML1_uc010rba.1_Missense_Mutation_p.M165I	p.M165I	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	3	847	+			165			Olfactomedin-like.		B4DP03|Q569G4	Missense_Mutation	SNP	ENST00000329293.3	37	c.495G>A	CCDS7779.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495143	0.64186	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.89343	-2.5;-2.5	5.78	5.78	0.91487	Olfactomedin-like (3);	0.126846	0.64402	D	0.000001	D	0.92466	0.7608	M	0.84219	2.685	0.80722	D	1	P;P	0.49253	0.828;0.921	B;P	0.50537	0.437;0.643	D	0.91852	0.5492	10	0.39692	T	0.17	.	17.5078	0.87750	0.0:0.0:1.0:0.0	.	29;165	B4DN61;Q6UWY5	.;OLFL1_HUMAN	I	165	ENSP00000433455:M165I;ENSP00000332511:M165I	ENSP00000332511:M165I	M	+	3	0	OLFML1	7487281	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.207000	0.58480	2.724000	0.93272	0.563000	0.77884	ATG		0.413	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		7	121	0	0	0	0.001984	0	7	121				
MYOD1	4654	broad.mit.edu	37	11	17741348	17741348	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:17741348C>A	ENST00000250003.3	+	1	234	c.19C>A	c.(19-21)Ccg>Acg	p.P7T		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	7					cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)	p.P7T(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						ACTGTCGCCACCGCTCCGCGA	0.657																																							uc001mni.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(19-21)CCG>ACG		myogenic differentiation 1							51.0	54.0	53.0					11																	17741348		2199	4293	6492	SO:0001583	missense	4654				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr11:17741348C>A	AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"""Basic helix-loop-helix proteins"""	7611	protein-coding gene	gene with protein product	"""myoblast determination protein 1"""	159970	"""myogenic factor 3"""	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.19C>A	11.37:g.17741348C>A	ENSP00000250003:p.Pro7Thr						p.P7T	NM_002478	NP_002469	P15172	MYOD1_HUMAN			1	239	+			7					O75321	Missense_Mutation	SNP	ENST00000250003.3	37	c.19C>A	CCDS7826.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213696	0.79352	.	.	ENSG00000129152	ENST00000250003	D	0.98313	-4.86	5.22	5.22	0.72569	Myogenic basic muscle-specific protein (1);	0.079276	0.52532	D	0.000072	D	0.98194	0.9403	L	0.40543	1.245	0.36977	D	0.894126	D	0.89917	1.0	D	0.91635	0.999	D	0.99954	1.1591	10	0.72032	D	0.01	-30.796	16.3249	0.82975	0.0:1.0:0.0:0.0	.	7	P15172	MYOD1_HUMAN	T	7	ENSP00000250003:P7T	ENSP00000250003:P7T	P	+	1	0	MYOD1	17697924	0.270000	0.24152	0.997000	0.53966	0.900000	0.52787	2.558000	0.45879	2.720000	0.93068	0.655000	0.94253	CCG		0.657	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389387.1	NM_002478		7	49	1	0	1.12685e-05	0.004482	1.45156e-05	7	49				
MRGPRX4	117196	broad.mit.edu	37	11	18194908	18194908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:18194908C>A	ENST00000314254.3	+	1	525	c.105C>A	c.(103-105)tgC>tgA	p.C35*	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C35*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGCTGACGTGCATCATTTCCC	0.552																																							uc001mnv.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(103-105)TGC>TGA		MAS-related GPR, member X4							176.0	158.0	164.0					11																	18194908		2199	4293	6492	SO:0001587	stop_gained	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18194908C>A	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.105C>A	11.37:g.18194908C>A	ENSP00000314042:p.Cys35*						p.C35*	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			1	525	+			35			Helical; Name=1; (Potential).		Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Nonsense_Mutation	SNP	ENST00000314254.3	37	c.105C>A	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929590	0.92389	.	.	ENSG00000179817	ENST00000314254	.	.	.	2.33	0.246	0.15516	.	1.888080	0.02409	N	0.081452	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	3.201	0.06650	0.0:0.5389:0.2845:0.1766	.	.	.	.	X	35	.	ENSP00000314042:C35X	C	+	3	2	MRGPRX4	18151484	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.099000	0.15210	0.068000	0.16574	0.436000	0.28706	TGC		0.552	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		22	105	1	0	3.6726e-16	0.003954	5.96468e-16	22	105				
LDHA	3939	broad.mit.edu	37	11	18424527	18424527	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:18424527G>T	ENST00000422447.3	+	5	832	c.559G>T	c.(559-561)Ggg>Tgg	p.G187W	LDHA_ENST00000430553.2_Missense_Mutation_p.G129W|LDHA_ENST00000540430.1_Missense_Mutation_p.G216W|LDHA_ENST00000379412.5_Missense_Mutation_p.G187W|LDHA_ENST00000396222.2_Missense_Mutation_p.G187W|LDHA_ENST00000227157.4_Missense_Mutation_p.G187W|AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000542179.1_Missense_Mutation_p.G187W	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	187					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)	p.G187W(2)|p.G216W(1)		central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						AAGCTGTCATGGGTGGGTCCT	0.418																																							uc001mok.3		NA																	3	Substitution - Missense(3)		lung(3)	central_nervous_system(3)	3						c.(559-561)GGG>TGG		lactate dehydrogenase A isoform 1	NADH(DB00157)						55.0	54.0	54.0					11																	18424527		2199	4293	6492	SO:0001583	missense	3939				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	g.chr11:18424527G>T	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.559G>T	11.37:g.18424527G>T	ENSP00000395337:p.Gly187Trp					LDHA_uc010rdc.1_Missense_Mutation_p.G129W|LDHA_uc009yhn.2_Missense_Mutation_p.G187W|LDHA_uc009yho.2_Missense_Mutation_p.G14W|LDHA_uc001mol.3_Missense_Mutation_p.G187W|LDHA_uc010rdd.1_Missense_Mutation_p.G216W	p.G187W	NM_005566	NP_005557	P00338	LDHA_HUMAN			5	831	+			187					B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	c.559G>T	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891880	0.91889	.	.	ENSG00000134333	ENST00000422447;ENST00000430553;ENST00000396222;ENST00000541620;ENST00000445376;ENST00000227157;ENST00000540430;ENST00000379412;ENST00000542179	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.34	5.34	0.76211	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89326	0.6683	H	0.98178	4.165	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.991;0.999;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.979;0.992;1.0;0.999	D	0.92541	0.6042	10	0.87932	D	0	-2.0415	19.5946	0.95530	0.0:0.0:1.0:0.0	.	216;129;160;187;187	B7Z5E3;B4DKQ2;B4DJI1;F8W819;P00338	.;.;.;.;LDHA_HUMAN	W	187;129;187;159;160;187;216;187;187	ENSP00000395337:G187W;ENSP00000406172:G129W;ENSP00000379524:G187W;ENSP00000227157:G187W;ENSP00000445175:G216W;ENSP00000368722:G187W;ENSP00000445331:G187W	ENSP00000227157:G187W	G	+	1	0	LDHA	18381103	1.000000	0.71417	0.982000	0.44146	0.987000	0.75469	9.373000	0.97168	2.937000	0.99478	0.650000	0.86243	GGG		0.418	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		8	57	1	0	7.48243e-07	0.006214	1.00996e-06	8	57				
KCNA4	3739	broad.mit.edu	37	11	30032746	30032746	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:30032746T>A	ENST00000328224.6	-	2	2713	c.1480A>T	c.(1480-1482)Agt>Tgt	p.S494C	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	494					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)	p.S494C(1)		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)	TACACAGCACTAGAAAAGAGG	0.527																																							uc001msk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1480-1482)AGT>TGT		potassium voltage-gated channel, shaker-related							57.0	59.0	59.0					11																	30032746		2142	4277	6419	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032746T>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.1480A>T	11.37:g.30032746T>A	ENSP00000328511:p.Ser494Cys						p.S494C	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	2632	-			494			Helical; Name=Segment S5; (Potential).			Missense_Mutation	SNP	ENST00000328224.6	37	c.1480A>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419144	0.62622	.	.	ENSG00000182255	ENST00000328224	D	0.98455	-4.94	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99105	0.9692	M	0.92219	3.285	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	D	0.99368	1.0919	10	0.87932	D	0	.	15.7455	0.77936	0.0:0.0:0.0:1.0	.	494	P22459	KCNA4_HUMAN	C	494	ENSP00000328511:S494C	ENSP00000328511:S494C	S	-	1	0	KCNA4	29989322	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	8.040000	0.89188	2.117000	0.64856	0.528000	0.53228	AGT		0.527	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		9	34	0	0	0	0.006214	0	9	34				
CCDC73	493860	broad.mit.edu	37	11	32674742	32674742	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:32674742T>A	ENST00000335185.5	-	12	909	c.866A>T	c.(865-867)cAg>cTg	p.Q289L	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	289								p.Q289L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CCGAAGTAACTGCTGCATATG	0.318																																							uc001mtv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(865-867)CAG>CTG		sarcoma antigen NY-SAR-79							149.0	135.0	140.0					11																	32674742		1849	4100	5949	SO:0001583	missense	493860							g.chr11:32674742T>A	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.866A>T	11.37:g.32674742T>A	ENSP00000335325:p.Gln289Leu					CCDC73_uc001mtw.1_Missense_Mutation_p.Q279L	p.Q289L	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			12	910	-	Breast(20;0.112)		289			Potential.		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.866A>T	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231023	0.79688	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.63	5.63	0.86233	.	0.244623	0.34700	N	0.003752	T	0.75280	0.3828	L	0.59436	1.845	0.80722	D	1	P;D	0.89917	0.873;1.0	P;D	0.74348	0.544;0.983	T	0.77247	-0.2658	9	0.62326	D	0.03	.	14.4047	0.67073	0.0:0.0:0.0:1.0	.	279;289	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	L	289	.	ENSP00000335325:Q289L	Q	-	2	0	CCDC73	32631318	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.740000	0.62087	2.145000	0.66743	0.397000	0.26171	CAG		0.318	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		6	67	0	0	0	0.004482	0	6	67				
HIPK3	10114	broad.mit.edu	37	11	33308507	33308507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:33308507C>T	ENST00000303296.4	+	2	852	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	HIPK3_ENST00000525975.1_Nonsense_Mutation_p.Q183*|HIPK3_ENST00000379016.3_Nonsense_Mutation_p.Q183*|HIPK3_ENST00000456517.1_Nonsense_Mutation_p.Q183*	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	183					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q183*(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGGTGACTATCAGTTAGTACA	0.428																																							uc001mul.1		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						c.(547-549)CAG>TAG		homeodomain interacting protein kinase 3 isoform							86.0	78.0	81.0					11																	33308507		2202	4298	6500	SO:0001587	stop_gained	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33308507C>T	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.547C>T	11.37:g.33308507C>T	ENSP00000304226:p.Gln183*					HIPK3_uc001mum.1_Nonsense_Mutation_p.Q183*|HIPK3_uc009yjv.1_Nonsense_Mutation_p.Q183*	p.Q183*	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			2	817	+			183					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Nonsense_Mutation	SNP	ENST00000303296.4	37	c.547C>T	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795153	0.70452	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	.	.	.	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7253	0.96161	0.0:1.0:0.0:0.0	.	.	.	.	X	183	.	ENSP00000304226:Q183X	Q	+	1	0	HIPK3	33265083	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.920000	0.70017	2.673000	0.90976	0.585000	0.79938	CAG		0.428	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		10	65	0	0	0	0.006214	0	10	65				
PAMR1	25891	broad.mit.edu	37	11	35463205	35463205	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:35463205G>T	ENST00000378880.2	-	7	1302	c.857C>A	c.(856-858)cCa>cAa	p.P286Q	PAMR1_ENST00000532848.1_Missense_Mutation_p.P246Q|PAMR1_ENST00000278360.3_Missense_Mutation_p.P303Q|PAMR1_ENST00000378878.3_Missense_Mutation_p.P175Q	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	286	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.P303Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CCCATTGACTGGGCCCCCAGG	0.418																																							uc001mwg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(856-858)CCA>CAA		regeneration associated muscle protease isoform							61.0	65.0	63.0					11																	35463205		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35463205G>T		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.857C>A	11.37:g.35463205G>T	ENSP00000368158:p.Pro286Gln					PAMR1_uc001mwf.2_Missense_Mutation_p.P303Q|PAMR1_uc010rew.1_Missense_Mutation_p.P175Q|PAMR1_uc010rex.1_Missense_Mutation_p.P246Q	p.P286Q	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			7	900	-			286			Sushi 1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.857C>A	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723831	0.48728	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605;ENST00000529303	T;T;T;T;T;D	0.90324	-0.16;-0.16;-0.16;-0.16;-0.16;-2.65	5.74	3.87	0.44632	Complement control module (2);Sushi/SCR/CCP (3);	0.102604	0.64402	D	0.000002	D	0.96658	0.8909	H	0.96833	3.89	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.999;0.993	D;D;P	0.97110	1.0;0.995;0.804	D	0.96644	0.9476	10	0.87932	D	0	.	12.0617	0.53566	0.139:0.0:0.861:0.0	.	175;286;303	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	Q	303;286;175;246;263;175	ENSP00000278360:P303Q;ENSP00000368158:P286Q;ENSP00000368156:P175Q;ENSP00000433868:P246Q;ENSP00000432591:P263Q;ENSP00000433024:P175Q	ENSP00000278360:P303Q	P	-	2	0	PAMR1	35419781	1.000000	0.71417	0.987000	0.45799	0.151000	0.21798	3.722000	0.54948	0.774000	0.33427	0.591000	0.81541	CCA		0.418	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		24	64	1	0	3.01185e-09	0.003954	4.38661e-09	24	64				
SYT13	57586	broad.mit.edu	37	11	45274079	45274079	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:45274079C>G	ENST00000020926.3	-	4	850	c.739G>C	c.(739-741)Gac>Cac	p.D247H	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	247	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)		p.D247H(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GAGAAGCGGTCGCAGGTCCTC	0.697											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001myq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(739-741)GAC>CAC		synaptotagmin XIII							47.0	45.0	46.0					11																	45274079		2203	4298	6501	SO:0001583	missense	57586					transport vesicle		g.chr11:45274079C>G	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.739G>C	11.37:g.45274079C>G	ENSP00000020926:p.Asp247His		OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	SYT13_uc009yku.1_Missense_Mutation_p.D103H	p.D247H	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			4	865	-			247			Cytoplasmic (Potential).|C2 1.		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.739G>C	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126863	0.94429	.	.	ENSG00000019505	ENST00000020926	T	0.13307	2.6	5.85	5.85	0.93711	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.06303	-1.0834	10	0.87932	D	0	.	20.1775	0.98187	0.0:1.0:0.0:0.0	.	247	Q7L8C5	SYT13_HUMAN	H	247	ENSP00000020926:D247H	ENSP00000020926:D247H	D	-	1	0	SYT13	45230655	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	6.255000	0.72466	2.771000	0.95319	0.561000	0.74099	GAC		0.697	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		14	47	0	0	0	0.00245	0	14	47				
CHST1	8534	broad.mit.edu	37	11	45671248	45671248	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:45671248G>T	ENST00000308064.2	-	4	1896	c.1226C>A	c.(1225-1227)cCc>cAc	p.P409H	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	409					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)	p.P409H(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TCACGAGAAGGGGCGGAAGTC	0.627																																							uc001mys.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|pancreas(1)	5						c.(1225-1227)CCC>CAC		carbohydrate (keratan sulfate Gal-6)							35.0	42.0	39.0					11																	45671248		2201	4289	6490	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671248G>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.1226C>A	11.37:g.45671248G>T	ENSP00000309270:p.Pro409His						p.P409H	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1897	-			409			Lumenal (Potential).		D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.1226C>A	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.605955	0.66445	.	.	ENSG00000175264	ENST00000308064	D	0.96774	-4.12	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98404	1.0569	10	0.56958	D	0.05	-16.3488	17.0358	0.86474	0.0:0.0:1.0:0.0	.	409	O43916	CHST1_HUMAN	H	409	ENSP00000309270:P409H	ENSP00000309270:P409H	P	-	2	0	CHST1	45627824	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	9.800000	0.99124	1.990000	0.58119	0.305000	0.20034	CCC		0.627	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		6	73	1	0	3.59834e-05	0.001168	4.47562e-05	6	73				
CELF1	10658	broad.mit.edu	37	11	47493789	47493789	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:47493789G>A	ENST00000358597.3	-	12	1453	c.1454C>T	c.(1453-1455)cCc>cTc	p.P485L	CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000395292.2_Missense_Mutation_p.P482L|CELF1_ENST00000395290.2_Missense_Mutation_p.P484L|CELF1_ENST00000532048.1_Missense_Mutation_p.P511L|CELF1_ENST00000361904.3_Missense_Mutation_p.P482L|CELF1_ENST00000310513.5_Missense_Mutation_p.P481L|CELF1_ENST00000531165.1_Missense_Mutation_p.P513L			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	485					embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)	p.P485L(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CGCTCAGTAGGGCTTGCTGTC	0.542																																					Pancreas(163;1949 1966 9906 43218 43785)	Pancreas(163;1949 1966 9906 43218 43785)	uc001nfl.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1453-1455)CCC>CTC		CUG triplet repeat, RNA-binding protein 1							280.0	235.0	251.0					11																	47493789		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47493789G>A	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.1454C>T	11.37:g.47493789G>A	ENSP00000351409:p.Pro485Leu					CELF1_uc001nfk.1_5'Flank|CELF1_uc001nfm.2_Missense_Mutation_p.P482L|CELF1_uc001nfn.2_Missense_Mutation_p.P481L|CELF1_uc001nfo.1_Missense_Mutation_p.P511L|CELF1_uc010rhm.1_Missense_Mutation_p.P484L|CELF1_uc001nfp.2_Missense_Mutation_p.P513L|CELF1_uc001nfq.1_Missense_Mutation_p.P485L|CELF1_uc001nfr.1_Missense_Mutation_p.P485L	p.P485L	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN			12	1464	-			485					B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.1454C>T	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151336	0.94645	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.49432	0.91;0.88;1.32;1.38;1.32;0.78;0.83	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.75700	0.3885	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.81914	0.991;0.991;0.995;0.99;0.991;0.978	T	0.79408	-0.1816	10	0.87932	D	0	-12.0519	20.1208	0.97960	0.0:0.0:1.0:0.0	.	484;513;511;481;482;485	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	L	484;485;482;481;482;513;511	ENSP00000378705:P484L;ENSP00000351409:P485L;ENSP00000378706:P482L;ENSP00000308386:P481L;ENSP00000354639:P482L;ENSP00000436864:P513L;ENSP00000435926:P511L	ENSP00000308386:P481L	P	-	2	0	CELF1	47450365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.758000	0.94735	0.655000	0.94253	CCC		0.542	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		38	194	0	0	0	0.00623	0	38	194				
OR4P4	81300	broad.mit.edu	37	11	55405905	55405905	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:55405905C>T	ENST00000314612.2	+	1	72	c.72C>T	c.(70-72)ctC>ctT	p.L24L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L24L(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGAAGTCCTCTGCTTTGTAT	0.358																																							uc010rij.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(70-72)CTC>CTT		olfactory receptor, family 4, subfamily P,							125.0	116.0	119.0					11																	55405905		2181	4026	6207	SO:0001819	synonymous_variant	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405905C>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.72C>T	11.37:g.55405905C>T							p.L24L	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	72	+			24			Helical; Name=1; (Potential).			Silent	SNP	ENST00000314612.2	37	c.72C>T	CCDS31504.1																																																																																				0.358	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		27	46	0	0	0	0.003954	0	27	46				
OR5D14	219436	broad.mit.edu	37	11	55563206	55563206	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:55563206A>T	ENST00000335605.1	+	1	175	c.175A>T	c.(175-177)Act>Tct	p.T59S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T59S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CAAATTTCACACTCCTATGTA	0.383																																							uc010rim.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(175-177)ACT>TCT		olfactory receptor, family 5, subfamily D,							227.0	209.0	215.0					11																	55563206		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563206A>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.175A>T	11.37:g.55563206A>T	ENSP00000334456:p.Thr59Ser						p.T59S	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	175	+		all_epithelial(135;0.196)	59			Helical; Name=2; (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.175A>T	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	a	8.725	0.915349	0.17907	.	.	ENSG00000186113	ENST00000335605	T	0.00473	7.18	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.296870	0.24198	N	0.040644	T	0.00440	0.0014	L	0.43598	1.365	0.09310	N	0.999999	B	0.33120	0.398	B	0.35727	0.209	T	0.48990	-0.8985	10	0.66056	D	0.02	-15.1865	8.3794	0.32461	0.8253:0.0:0.0:0.1747	.	59	Q8NGL3	OR5DE_HUMAN	S	59	ENSP00000334456:T59S	ENSP00000334456:T59S	T	+	1	0	OR5D14	55319782	0.000000	0.05858	0.784000	0.31847	0.088000	0.18126	0.928000	0.28831	1.916000	0.55485	0.523000	0.50628	ACT		0.383	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		20	110	0	0	0	0.008871	0	20	110				
OR5L2	26338	broad.mit.edu	37	11	55594977	55594977	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:55594977C>G	ENST00000378397.1	+	1	283	c.283C>G	c.(283-285)Cta>Gta	p.L95V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L95I(1)|p.L95V(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CATCTCCTTCCTAGGGTGCAT	0.458										HNSCC(27;0.073)																													uc001nhy.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(283-285)CTA>GTA		olfactory receptor, family 5, subfamily L,							192.0	182.0	185.0					11																	55594977		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594977C>G	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.283C>G	11.37:g.55594977C>G	ENSP00000367650:p.Leu95Val	HNSCC(27;0.073)					p.L95V	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	283	+		all_epithelial(135;0.208)	95			Extracellular (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.283C>G	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	0.869	-0.732697	0.03135	.	.	ENSG00000205030	ENST00000378397	T	0.00397	7.57	5.21	-0.498	0.12019	GPCR, rhodopsin-like superfamily (1);	0.190780	0.25798	N	0.028221	T	0.00109	0.0003	N	0.04245	-0.25	0.09310	N	1	B	0.14012	0.009	B	0.17722	0.019	T	0.29912	-0.9996	10	0.17369	T	0.5	-1.4475	2.2229	0.03977	0.1111:0.3009:0.3441:0.2439	.	95	Q8NGL0	OR5L2_HUMAN	V	95	ENSP00000367650:L95V	ENSP00000367650:L95V	L	+	1	2	OR5L2	55351553	0.000000	0.05858	0.030000	0.17652	0.442000	0.32017	-1.945000	0.01537	0.031000	0.15407	0.626000	0.83405	CTA		0.458	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		17	154	0	0	0	0.007413	0	17	154				
TRIM51	84767	broad.mit.edu	37	11	55653297	55653297	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:55653297G>T	ENST00000449290.2	+	2	485	c.393G>T	c.(391-393)tgG>tgT	p.W131C	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	131						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.W131C(2)									CCATTGAGTGGGCTGCTGAGG	0.468																																							uc010rip.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(391-393)TGG>TGT		SPRY domain containing 5							14.0	13.0	13.0					11																	55653297		692	1590	2282	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653297G>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.393G>T	11.37:g.55653297G>T	ENSP00000395086:p.Trp131Cys					SPRYD5_uc010riq.1_5'Flank	p.W131C	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			2	485	+		all_epithelial(135;0.226)	131					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.393G>T		.	.	.	.	.	.	.	.	.	.	.	8.435	0.849609	0.17034	.	.	ENSG00000124900	ENST00000449290	T	0.56611	0.45	0.803	0.803	0.18691	.	.	.	.	.	T	0.52517	0.1739	M	0.85859	2.78	0.44098	D	0.996865	B	0.12630	0.006	B	0.15484	0.013	T	0.56481	-0.7972	9	0.56958	D	0.05	.	7.5005	0.27516	1.0E-4:0.0:0.9999:0.0	.	131	Q9BSJ1	SPRY5_HUMAN	C	131	ENSP00000395086:W131C	ENSP00000395086:W131C	W	+	3	0	SPRYD5	55409873	0.521000	0.26258	0.050000	0.19076	0.204000	0.24138	3.852000	0.55934	0.752000	0.32923	0.152000	0.16155	TGG		0.468	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		5	37	1	0	0.00116845	0.001168	0.00131559	5	37				
OR5I1	10798	broad.mit.edu	37	11	55703124	55703124	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:55703124C>A	ENST00000301532.3	-	1	752	c.753G>T	c.(751-753)acG>acT	p.T251T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	251					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T251T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTTGGTAGATCGTCACTGAAG	0.428																																							uc010ris.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(751-753)ACG>ACT		olfactory receptor, family 5, subfamily I,							77.0	76.0	76.0					11																	55703124		2201	4296	6497	SO:0001819	synonymous_variant	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703124C>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.753G>T	11.37:g.55703124C>A							p.T251T	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	753	-			251			Helical; Name=6; (Potential).		Q6IEU4	Silent	SNP	ENST00000301532.3	37	c.753G>T	CCDS7949.1																																																																																				0.428	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		5	25	1	0	1.23904e-05	0.000602	1.57585e-05	5	25				
OR8I2	120586	broad.mit.edu	37	11	55860792	55860792	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:55860792C>A	ENST00000302124.2	+	1	40	c.9C>A	c.(7-9)ggC>ggA	p.G3G		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G3G(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AAATGGCTGGCAACAATTTCA	0.368																																							uc010rix.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(7-9)GGC>GGA		olfactory receptor, family 8, subfamily I,							110.0	110.0	110.0					11																	55860792		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55860792C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.9C>A	11.37:g.55860792C>A							p.G3G	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	9	+	Esophageal squamous(21;0.00693)		3			Extracellular (Potential).		B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.9C>A	CCDS31517.1																																																																																				0.368	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		9	106	1	0	0.000274275	0.004482	0.000318342	9	106				
OR5M8	219484	broad.mit.edu	37	11	56258197	56258197	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:56258197T>C	ENST00000327216.2	-	1	674	c.650A>G	c.(649-651)tAc>tGc	p.Y217C		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y217C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AATGTAAAGGTAGGAAATACA	0.408																																							uc001nix.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(649-651)TAC>TGC		olfactory receptor, family 5, subfamily M,							50.0	52.0	51.0					11																	56258197		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258197T>C	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.650A>G	11.37:g.56258197T>C	ENSP00000323354:p.Tyr217Cys						p.Y217C	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	650	-	Esophageal squamous(21;0.00352)		217			Cytoplasmic (Potential).		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.650A>G	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.910487	0.33721	.	.	ENSG00000181371	ENST00000327216	T	0.00520	6.85	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36444	N	0.002597	T	0.02455	0.0075	M	0.92880	3.355	0.41995	D	0.990868	D	0.89917	1.0	D	0.97110	1.0	T	0.19910	-1.0291	10	0.87932	D	0	-22.1155	11.9282	0.52831	0.0:0.0:0.0:1.0	.	217	Q8NGP6	OR5M8_HUMAN	C	217	ENSP00000323354:Y217C	ENSP00000323354:Y217C	Y	-	2	0	OR5M8	56014773	1.000000	0.71417	0.278000	0.24718	0.087000	0.18053	6.000000	0.70678	1.749000	0.51849	0.514000	0.50259	TAC		0.408	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		5	63	0	0	0	0.001168	0	5	63				
TNKS1BP1	85456	broad.mit.edu	37	11	57076892	57076892	+	Missense_Mutation	SNP	C	C	T	rs545906142		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:57076892C>T	ENST00000532437.1	-	5	3604	c.3293G>A	c.(3292-3294)cGa>cAa	p.R1098Q	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R1098Q			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1098	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.R1098Q(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGCTGCCTCTCGCTGGGGGCC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19551	0.0		0.0	False		,,,				2504	0.001						uc001njr.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3292-3294)CGA>CAA		tankyrase 1-binding protein 1							75.0	66.0	69.0					11																	57076892		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076892C>T	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3293G>A	11.37:g.57076892C>T	ENSP00000437271:p.Arg1098Gln					TNKS1BP1_uc001njs.2_Missense_Mutation_p.R1098Q|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.R549Q	p.R1098Q	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			5	3605	-		all_epithelial(135;0.21)	1098			Gly-rich.|Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.3293G>A	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	0.721	-0.783448	0.02907	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.28255	1.62;1.62	5.05	0.907	0.19321	.	1.235550	0.05869	N	0.624311	T	0.10981	0.0268	N	0.08118	0	0.09310	N	1	P	0.37708	0.606	B	0.26770	0.073	T	0.12091	-1.0561	10	0.10111	T	0.7	2.0162	4.0713	0.09884	0.3265:0.1855:0.488:0.0	.	1098	Q9C0C2	TB182_HUMAN	Q	1098	ENSP00000350990:R1098Q;ENSP00000437271:R1098Q	ENSP00000350990:R1098Q	R	-	2	0	TNKS1BP1	56833468	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.286000	0.18902	-0.088000	0.12506	-0.502000	0.04539	CGA		0.612	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		11	43	0	0	0	0.008291	0	11	43				
OR9Q1	219956	broad.mit.edu	37	11	57947084	57947084	+	Missense_Mutation	SNP	C	C	A	rs141876179	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:57947084C>A	ENST00000335397.3	+	3	484	c.168C>A	c.(166-168)caC>caA	p.H56Q		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H56Q(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				ACCAGCTCCACGCTCCAATGT	0.488																																							uc001nmj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(166-168)CAC>CAA		olfactory receptor, family 9, subfamily Q,							257.0	234.0	242.0					11																	57947084		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947084C>A	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.168C>A	11.37:g.57947084C>A	ENSP00000334934:p.His56Gln						p.H56Q	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN			3	484	+		Breast(21;0.222)	56			Helical; Name=2; (Potential).		Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.168C>A	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	C	5.198	0.222075	0.09863	.	.	ENSG00000186509	ENST00000335397	T	0.15952	2.38	4.72	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.121179	0.37669	N	0.001985	T	0.14874	0.0359	L	0.49455	1.56	0.35587	D	0.806766	B	0.26483	0.15	B	0.20767	0.031	T	0.10590	-1.0623	10	0.66056	D	0.02	-23.7117	9.2231	0.37388	0.0:0.648:0.2752:0.0768	.	56	Q8NGQ5	OR9Q1_HUMAN	Q	56	ENSP00000334934:H56Q	ENSP00000334934:H56Q	H	+	3	2	OR9Q1	57703660	0.002000	0.14202	0.934000	0.37439	0.013000	0.08279	-0.029000	0.12329	0.257000	0.21650	-0.300000	0.09419	CAC		0.488	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		17	149	1	0	6.49762e-13	0.006122	1.02041e-12	17	149				
OR1S2	219958	broad.mit.edu	37	11	57970865	57970865	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:57970865C>A	ENST00000302592.6	-	1	788	c.789G>T	c.(787-789)ctG>ctT	p.L263L		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L263L(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TTCCGTAGAACAGTAATGCAA	0.502																																							uc010rkb.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(787-789)CTG>CTT		olfactory receptor, family 1, subfamily S,							170.0	141.0	151.0					11																	57970865		2201	4296	6497	SO:0001819	synonymous_variant	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57970865C>A	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.789G>T	11.37:g.57970865C>A							p.L263L	NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN			1	789	-		Breast(21;0.0589)	263			Helical; Name=6; (Potential).		Q6IFG5|Q96R85	Silent	SNP	ENST00000302592.6	37	c.789G>T	CCDS31545.1																																																																																				0.502	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		15	45	1	0	2.31682e-05	0.003163	2.90165e-05	15	45				
MS4A1	931	broad.mit.edu	37	11	60235735	60235735	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:60235735C>G	ENST00000534668.1	+	7	977	c.688C>G	c.(688-690)Ctg>Gtg	p.L230V	MS4A1_ENST00000532073.1_Missense_Mutation_p.L217V|MS4A1_ENST00000389939.2_Missense_Mutation_p.L230V|MS4A1_ENST00000528313.1_Missense_Mutation_p.L63V|MS4A1_ENST00000345732.4_Missense_Mutation_p.L230V	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	230					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)	p.L230V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	CATAGTTCTCCTGTCAGCAGA	0.338																																							uc001npp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)	5						c.(688-690)CTG>GTG		membrane-spanning 4-domains, subfamily A, member	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						30.0	30.0	30.0					11																	60235735		2203	4300	6503	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60235735C>G	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.688C>G	11.37:g.60235735C>G	ENSP00000433277:p.Leu230Val					MS4A1_uc001npq.2_Missense_Mutation_p.L230V|MS4A1_uc009yna.2_Missense_Mutation_p.L230V|MS4A1_uc009ymz.2_Missense_Mutation_p.L217V|MS4A1_uc010rlc.1_Missense_Mutation_p.L63V	p.L230V	NM_152866	NP_690605	P11836	CD20_HUMAN			8	1104	+			230			Cytoplasmic (Potential).		A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.688C>G	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.909166	0.52439	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	T;T;T;T	0.36878	2.17;1.23;2.17;2.17	4.79	1.93	0.25924	.	0.610489	0.14107	N	0.340987	T	0.44244	0.1284	L	0.36672	1.1	0.30489	N	0.771578	D;D;D	0.76494	0.999;0.993;0.993	D;D;D	0.80764	0.994;0.987;0.987	T	0.38650	-0.9651	10	0.48119	T	0.1	-19.4672	6.7929	0.23709	0.0:0.7093:0.0:0.2907	.	63;217;230	B4DT24;E9PKH8;P11836	.;.;CD20_HUMAN	V	230;217;230;63;230	ENSP00000314620:L230V;ENSP00000433519:L217V;ENSP00000433277:L230V;ENSP00000374589:L230V	ENSP00000314620:L230V	L	+	1	2	MS4A1	59992311	0.976000	0.34144	0.989000	0.46669	0.972000	0.66771	0.734000	0.26101	0.340000	0.23745	0.655000	0.94253	CTG		0.338	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			6	20	0	0	0	0.001168	0	6	20				
SCGB1A1	7356	broad.mit.edu	37	11	62186609	62186609	+	Silent	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:62186609C>G	ENST00000278282.2	+	1	103	c.42C>G	c.(40-42)ctC>ctG	p.L14L	CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_Intron	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	14					embryo implantation (GO:0007566)|female pregnancy (GO:0007565)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of inflammatory response (GO:0050727)|regulation of mRNA stability (GO:0043488)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fibroblast growth factor (GO:0071774)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to silicon dioxide (GO:0034021)|response to xenobiotic stimulus (GO:0009410)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nuclear envelope (GO:0005635)|rough endoplasmic reticulum (GO:0005791)|secretory granule (GO:0030141)	phospholipase A2 inhibitor activity (GO:0019834)	p.L14L(1)		lung(1)	1						CACTGGCTCTCTGCTGCAGCT	0.607																																							uc001ntj.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(40-42)CTC>CTG		secretoglobin, family 1A, member 1							209.0	141.0	164.0					11																	62186609		2202	4299	6501	SO:0001819	synonymous_variant	7356				embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity	g.chr11:62186609C>G		CCDS8020.1	11q12.3	2011-12-14	2002-03-22	2002-03-22	ENSG00000149021	ENSG00000149021		"""Secretoglobins"""	12523	protein-coding gene	gene with protein product	"""Uteroglobin (Clara-cell specific 10-kD protein)"""	192020	"""uteroglobin"""	UGB		1284526, 22155607	Standard	NM_003357		Approved	CC10, CCSP, CC16	uc001ntj.3	P11684	OTTHUMG00000167526	ENST00000278282.2:c.42C>G	11.37:g.62186609C>G							p.L14L	NM_003357	NP_003348	P11684	UTER_HUMAN			1	87	+			14					B2R5F2|Q6FHH3|Q9UCM2|Q9UCM4	Silent	SNP	ENST00000278282.2	37	c.42C>G	CCDS8020.1																																																																																				0.607	SCGB1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394925.1	NM_003357		5	20	0	0	0	0.000602	0	5	20				
RTN3	10313	broad.mit.edu	37	11	63487182	63487182	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:63487182G>T	ENST00000377819.5	+	3	1362	c.1208G>T	c.(1207-1209)gGt>gTt	p.G403V	RTN3_ENST00000339997.4_Missense_Mutation_p.G384V|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.G291V	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	403					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.G384V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAATCAACAGGTGATTGGGCA	0.378																																							uc001nxq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1207-1209)GGT>GTT		reticulon 3 isoform b							49.0	50.0	49.0					11																	63487182		2201	4298	6499	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63487182G>T	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1208G>T	11.37:g.63487182G>T	ENSP00000367050:p.Gly403Val					RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.G384V|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.G291V|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	p.G403V	NM_201428	NP_958831	O95197	RTN3_HUMAN			3	1395	+			403					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.1208G>T	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	9.085	1.000268	0.19121	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.17213	2.29;2.29;2.29	5.89	0.465	0.16711	.	1.018380	0.07846	N	0.963784	T	0.10465	0.0256	N	0.17082	0.46	0.09310	N	0.999999	B;B;B	0.27351	0.176;0.11;0.176	B;B;B	0.30495	0.066;0.054;0.116	T	0.39099	-0.9630	10	0.72032	D	0.01	-5.5054	3.211	0.06682	0.154:0.2474:0.4721:0.1264	.	291;403;384	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	V	403;384;291	ENSP00000367050:G403V;ENSP00000344106:G384V;ENSP00000442733:G291V	ENSP00000344106:G384V	G	+	2	0	RTN3	63243758	0.577000	0.26708	0.506000	0.27664	0.682000	0.39822	0.493000	0.22451	0.383000	0.24910	0.655000	0.94253	GGT		0.378	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		8	56	1	0	5.4927e-09	0.004482	7.93586e-09	8	56				
NAALADL1	10004	broad.mit.edu	37	11	64821818	64821818	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:64821818T>A	ENST00000358658.3	-	6	923	c.896A>T	c.(895-897)aAc>aTc	p.N299I	NAALADL1_ENST00000355721.3_Missense_Mutation_p.N258I|NAALADL1_ENST00000356632.3_Intron|NAALADL1_ENST00000340252.4_Missense_Mutation_p.N299I|NAALADL1_ENST00000339885.2_Missense_Mutation_p.N299I|NAALADL1_ENST00000355369.2_Missense_Mutation_p.N299I	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	299	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.N299I(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CAAAGTTCCGTTGAGGTTACT	0.637																																							uc001ocn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(895-897)AAC>ATC		N-acetylated alpha-linked acidic							44.0	44.0	44.0					11																	64821818		2201	4297	6498	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64821818T>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.896A>T	11.37:g.64821818T>A	ENSP00000351484:p.Asn299Ile					NAALADL1_uc010rnw.1_5'UTR	p.N299I	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			6	912	-			299			NAALADase.|Extracellular (Potential).		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.896A>T	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.626020	0.28889	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.96	-1.6	0.08426	.	1.365670	0.04196	N	0.329143	T	0.49949	0.1587	M	0.82433	2.59	0.09310	N	1	B	0.24186	0.099	B	0.22880	0.042	T	0.46105	-0.9215	10	0.87932	D	0	0.512	5.2497	0.15515	0.0:0.3327:0.2892:0.3781	.	299	Q9UQQ1	NALDL_HUMAN	I	299;299;299;299;299;258	ENSP00000351484:N299I;ENSP00000347530:N299I;ENSP00000340111:N299I;ENSP00000344244:N299I;ENSP00000347955:N258I	ENSP00000340111:N299I	N	-	2	0	NAALADL1	64578394	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.313000	0.02718	-0.474000	0.06862	0.533000	0.62120	AAC		0.637	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		5	49	0	0	0	0.000602	0	5	49				
TSGA10IP	254187	broad.mit.edu	37	11	65721100	65721100	+	RNA	SNP	G	G	T	rs371057516		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:65721100G>T	ENST00000532620.1	+	0	1445				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.R375L(1)		endometrium(2)|kidney(3)|lung(9)	14						GAGCTGCGGCGGGCCCGGACA	0.716																																							uc001ogk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1213-1215)CGG>CTG		testis specific, 10 interacting protein							20.0	25.0	24.0					11																	65721100		1737	3750	5487			254187							g.chr11:65721100G>T	AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65721100G>T						TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_RNA	p.R405L	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN			7	1246	+			405			Potential.		Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37	c.1214G>T																																																																																					0.716	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		11	45	1	0	5.16669e-11	0.000978	7.84121e-11	11	45				
CTSF	8722	broad.mit.edu	37	11	66333336	66333336	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:66333336G>A	ENST00000310325.5	-	7	1039	c.930C>T	c.(928-930)ctC>ctT	p.L310L	CTSF_ENST00000533168.1_5'Flank|ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	310					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)	p.L310L(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCCCTGGTTGAGAAACCACT	0.617																																							uc001oip.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(928-930)CTC>CTT		cathepsin F precursor							56.0	55.0	56.0					11																	66333336		2200	4295	6495	SO:0001819	synonymous_variant	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66333336G>A	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.930C>T	11.37:g.66333336G>A							p.L310L	NM_003793	NP_003784	Q9UBX1	CATF_HUMAN			7	1020	-			310					B2R964|O95240|Q9NSU4|Q9UKQ5	Silent	SNP	ENST00000310325.5	37	c.930C>T	CCDS8144.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768551	0.49680	.	.	ENSG00000174080	ENST00000524994	.	.	.	5.41	0.664	0.17890	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2128	0.31494	0.0:0.4251:0.4116:0.1633	.	.	.	.	X	158	.	.	Q	-	1	0	CTSF	66089912	0.977000	0.34250	0.755000	0.31263	0.913000	0.54294	0.106000	0.15354	0.053000	0.16036	-0.322000	0.08575	CAA		0.617	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		7	44	0	0	0	0.00308	0	7	44				
TPCN2	219931	broad.mit.edu	37	11	68846407	68846407	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:68846407C>T	ENST00000294309.3	+	16	1559	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.L486L	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	486					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)	p.L486L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGATGCTGCTCAAGGTCTTTG	0.582																																							uc001oos.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1456-1458)CTC>CTT		two pore segment channel 2							134.0	117.0	123.0					11																	68846407		2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68846407C>T	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1458C>T	11.37:g.68846407C>T						TPCN2_uc001oor.2_Silent_p.L401L|TPCN2_uc010rqg.1_Silent_p.L486L|TPCN2_uc001oot.2_RNA	p.L486L	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		16	1574	+			486			Helical; Name=S2 of repeat II; (Potential).		Q9NT82	Silent	SNP	ENST00000294309.3	37	c.1458C>T	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	C	8.916	0.959866	0.18507	.	.	ENSG00000162341	ENST00000356782	.	.	.	4.21	0.879	0.19155	.	.	.	.	.	T	0.45577	0.1349	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24764	-1.0151	4	.	.	.	-18.9742	3.9368	0.09309	0.1223:0.305:0.4649:0.1078	.	.	.	.	L	360	.	.	S	+	2	0	TPCN2	68602983	0.999000	0.42202	0.990000	0.47175	0.918000	0.54935	0.441000	0.21611	0.209000	0.20645	0.462000	0.41574	TCA		0.582	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		12	64	0	0	0	0.00245	0	12	64				
KRTAP5-9	3846	broad.mit.edu	37	11	71259944	71259944	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:71259944A>T	ENST00000528743.2	+	1	479	c.241A>T	c.(241-243)Agt>Tgt	p.S81C		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	81	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)		p.S81C(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CTCCCAGTGCAGTTGCTGCAA	0.622																																							uc001oqs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(241-243)AGT>TGT		keratin associated protein 5-9							102.0	117.0	112.0					11																	71259944		2200	4293	6493	SO:0001583	missense	3846				epidermis development	keratin filament		g.chr11:71259944A>T	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"""Keratin associated proteins"""	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.241A>T	11.37:g.71259944A>T	ENSP00000431443:p.Ser81Cys						p.S81C	NM_005553	NP_005544	P26371	KRA59_HUMAN			1	479	+			81			8 X 4 AA repeats of C-C-X-P.		Q14564|Q3MIP8	Missense_Mutation	SNP	ENST00000528743.2	37	c.241A>T	CCDS53677.1	.	.	.	.	.	.	.	.	.	.	N	1.127	-0.653557	0.03480	.	.	ENSG00000254997	ENST00000528743	T	0.04360	3.64	1.57	-2.6	0.06190	.	.	.	.	.	T	0.07503	0.0189	M	0.83692	2.655	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30765	-0.9967	9	0.45353	T	0.12	.	5.984	0.19423	0.3093:0.0:0.0:0.6907	.	81	P26371	KRA59_HUMAN	C	81	ENSP00000431443:S81C	ENSP00000431443:S81C	S	+	1	0	KRTAP5-9	70937592	0.213000	0.23551	0.037000	0.18230	0.021000	0.10359	0.359000	0.20233	-0.485000	0.06754	0.363000	0.22086	AGT		0.622	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			17	127	0	0	0	0.007413	0	17	127				
UVRAG	7405	broad.mit.edu	37	11	75727892	75727892	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:75727892G>T	ENST00000356136.3	+	12	1335	c.1094G>T	c.(1093-1095)gGt>gTt	p.G365V	UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.G264V|UVRAG_ENST00000539288.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	365					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)		p.G365V(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GTTGCCCTTGGTTATACTGCA	0.343																																							uc001oxc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|lung(2)	6						c.(1093-1095)GGT>GTT		UV radiation resistance associated							171.0	163.0	166.0					11																	75727892		2200	4293	6493	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75727892G>T	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1094G>T	11.37:g.75727892G>T	ENSP00000348455:p.Gly365Val					UVRAG_uc010rrw.1_Missense_Mutation_p.G264V|UVRAG_uc001oxd.2_5'UTR|UVRAG_uc010rrx.1_5'UTR|UVRAG_uc009yuh.1_RNA	p.G365V	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			12	1335	+			365					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.1094G>T	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415483	0.83449	.	.	ENSG00000198382	ENST00000356136;ENST00000528420	T;T	0.33216	1.42;1.42	4.6	4.6	0.57074	.	0.205833	0.50627	D	0.000107	T	0.62925	0.2468	M	0.89658	3.05	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.72757	-0.4197	10	0.87932	D	0	-10.8887	16.59	0.84762	0.0:0.0:1.0:0.0	.	365	Q9P2Y5	UVRAG_HUMAN	V	365;264	ENSP00000348455:G365V;ENSP00000436039:G264V	ENSP00000348455:G365V	G	+	2	0	UVRAG	75405540	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.657000	0.98554	2.392000	0.81423	0.585000	0.79938	GGT		0.343	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		11	111	1	0	7.93312e-07	0.00245	1.0676e-06	11	111				
UVRAG	7405	broad.mit.edu	37	11	75852456	75852456	+	Nonstop_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:75852456G>T	ENST00000356136.3	+	15	2340	c.2099G>T	c.(2098-2100)tGa>tTa	p.*700L	UVRAG_ENST00000538870.1_Nonstop_Mutation_p.*256L|UVRAG_ENST00000533454.1_Nonstop_Mutation_p.*328L|UVRAG_ENST00000531818.1_Nonstop_Mutation_p.*328L|UVRAG_ENST00000532130.1_Nonstop_Mutation_p.*328L|UVRAG_ENST00000528420.1_Nonstop_Mutation_p.*599L|UVRAG_ENST00000539288.1_Nonstop_Mutation_p.*328L	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	0					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)		p.*700L(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TCCGATAAGTGAAGTGAGCAG	0.463																																							uc001oxc.2		NA																	1	Nonstop extension(1)		lung(1)	skin(4)|lung(2)	6						c.(2098-2100)TGA>TTA		UV radiation resistance associated							35.0	38.0	37.0					11																	75852456		2200	4291	6491	SO:0001578	stop_lost	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75852456G>T	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.2099G>T	11.37:g.75852456G>T	ENSP00000348455:p.*700Leuext*18					UVRAG_uc010rrw.1_Nonstop_Mutation_p.*599L|UVRAG_uc001oxd.2_Nonstop_Mutation_p.*328L|UVRAG_uc010rrx.1_Nonstop_Mutation_p.*328L|UVRAG_uc010rry.1_Nonstop_Mutation_p.*256L	p.*700L	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			15	2340	+			700					B3KTC1|O00392	Nonstop_Mutation	SNP	ENST00000356136.3	37	c.2099G>T	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919467	0.52653	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	.	.	.	5.66	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5619	0.33516	0.2307:0.0:0.7693:0.0	.	.	.	.	L	700;599;328;328;328;328;256	.	.	X	+	2	2	UVRAG	75530104	1.000000	0.71417	0.967000	0.41034	0.714000	0.41099	3.640000	0.54350	0.764000	0.33197	0.655000	0.94253	TGA		0.463	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		4	34	1	0	1.23904e-05	0.000602	1.57585e-05	4	34				
NAALAD2	10003	broad.mit.edu	37	11	89896521	89896521	+	Silent	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:89896521T>C	ENST00000534061.1	+	10	1349	c.1119T>C	c.(1117-1119)ttT>ttC	p.F373F	NAALAD2_ENST00000525171.1_Silent_p.F280F|NAALAD2_ENST00000321955.4_Silent_p.F340F|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	373	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.F373F(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCTGGGTATTTGGAGCTATTG	0.398																																							uc001pdf.3		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1117-1119)TTT>TTC		N-acetylated alpha-linked acidic dipeptidase 2							121.0	128.0	126.0					11																	89896521		2201	4299	6500	SO:0001819	synonymous_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89896521T>C	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1119T>C	11.37:g.89896521T>C						NAALAD2_uc009yvx.2_Silent_p.F340F|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Silent_p.F280F	p.F373F	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			10	1228	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	373			Extracellular (Potential).|NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	37	c.1119T>C	CCDS8288.1																																																																																				0.398	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		33	131	0	0	0	0.002445	0	33	131				
FAT3	120114	broad.mit.edu	37	11	92616425	92616425	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:92616425C>A	ENST00000298047.6	+	23	12820	c.12803C>A	c.(12802-12804)cCt>cAt	p.P4268H	FAT3_ENST00000525166.1_Missense_Mutation_p.P4118H|FAT3_ENST00000409404.2_Missense_Mutation_p.P4268H|FAT3_ENST00000533797.1_Missense_Mutation_p.P603H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4268					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P4268H(2)|p.P843H(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACGTTTCACCCTGAGTCGCCC	0.657										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	3	Substitution - Missense(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(12802-12804)CCT>CAT		FAT tumor suppressor homolog 3							65.0	79.0	74.0					11																	92616425		2133	4237	6370	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616425C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12803C>A	11.37:g.92616425C>A	ENSP00000298047:p.Pro4268His	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.P708H	p.P4268H	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12820	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4268			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12803C>A		.	.	.	.	.	.	.	.	.	.	C	23.4	4.411195	0.83340	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;D;T;D	0.89270	-1.36;-1.64;-1.37;-2.49	5.85	5.85	0.93711	.	.	.	.	.	D	0.94968	0.8372	M	0.80982	2.52	0.80722	D	1	D;B	0.89917	1.0;0.015	D;B	0.78314	0.991;0.004	D	0.94866	0.8026	9	0.87932	D	0	.	20.161	0.98133	0.0:1.0:0.0:0.0	.	4268;4268	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	H	4268;4268;4118;603	ENSP00000298047:P4268H;ENSP00000387040:P4268H;ENSP00000432586:P4118H;ENSP00000436399:P603H	ENSP00000298047:P4268H	P	+	2	0	FAT3	92256073	0.999000	0.42202	0.950000	0.38849	0.929000	0.56500	5.905000	0.69893	2.770000	0.95276	0.655000	0.94253	CCT		0.657	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		18	117	1	0	1.56452e-12	0.007413	2.43161e-12	18	117				
DYNC2H1	79659	broad.mit.edu	37	11	103057207	103057207	+	Silent	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:103057207A>T	ENST00000375735.2	+	42	7014	c.6870A>T	c.(6868-6870)gtA>gtT	p.V2290V	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.V2290V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2290	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTATTCTGGTAGGACCAGAAG	0.393																																							uc001pho.2		NA																	0					0						c.(6868-6870)GTA>GTT		dynein, cytoplasmic 2, heavy chain 1							49.0	46.0	47.0					11																	103057207		1831	4085	5916	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103057207A>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6870A>T	11.37:g.103057207A>T						DYNC2H1_uc001phn.1_Silent_p.V2290V|DYNC2H1_uc009yxe.1_Intron	p.V2290V	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	42	7014	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2290			AAA 3 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.6870A>T	CCDS53701.1																																																																																				0.393	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		4	19	0	0	0	0.009096	0	4	19				
PDGFD	80310	broad.mit.edu	37	11	103797775	103797775	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:103797775C>A	ENST00000393158.2	-	6	1031	c.852G>T	c.(850-852)gaG>gaT	p.E284D	PDGFD_ENST00000302251.5_Missense_Mutation_p.E278D			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	284					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.E284D(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CCAACTTCAGCTCTTCTCTTA	0.488																																							uc001phq.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(850-852)GAG>GAT		platelet derived growth factor D isoform 1							199.0	167.0	178.0					11																	103797775		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103797775C>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.852G>T	11.37:g.103797775C>A	ENSP00000376865:p.Glu284Asp					PDGFD_uc001php.2_Missense_Mutation_p.E278D	p.E284D	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	6	1224	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	284					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.852G>T	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717072	0.89205	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.38722	1.12;1.13	5.87	5.87	0.94306	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	M	0.73962	2.25	0.58432	D	0.999991	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.99	T	0.65565	-0.6137	10	0.87932	D	0	-29.0792	11.5307	0.50607	0.0:0.8622:0.0:0.1378	.	284;278	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	D	284;278	ENSP00000376865:E284D;ENSP00000302193:E278D	ENSP00000302193:E278D	E	-	3	2	PDGFD	103302985	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.170000	0.31883	2.774000	0.95407	0.650000	0.86243	GAG		0.488	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		7	46	1	0	0.000157383	0.00308	0.00018675	7	46				
CRYAB	1410	broad.mit.edu	37	11	111779603	111779603	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:111779603G>A	ENST00000533475.1	-	4	862	c.413C>T	c.(412-414)tCa>tTa	p.S138L	CRYAB_ENST00000531198.1_Missense_Mutation_p.S138L|CRYAB_ENST00000227251.3_Missense_Mutation_p.S138L|CRYAB_ENST00000525823.1_Missense_Mutation_p.S71L|CRYAB_ENST00000533280.1_Missense_Mutation_p.S71L|CRYAB_ENST00000527950.1_Missense_Mutation_p.S138L|CRYAB_ENST00000526180.1_Missense_Mutation_p.S138L	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	138					aging (GO:0007568)|apoptotic process involved in morphogenesis (GO:0060561)|cellular response to gamma radiation (GO:0071480)|glucose metabolic process (GO:0006006)|lens development in camera-type eye (GO:0002088)|microtubule polymerization or depolymerization (GO:0031109)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of gene expression (GO:0010629)|negative regulation of intracellular transport (GO:0032387)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)|regulation of cell death (GO:0010941)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|stress-activated MAPK cascade (GO:0051403)|tubulin complex assembly (GO:0007021)	actin filament bundle (GO:0032432)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)	p.S138L(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CCCATCAGATGACAGGGATGA	0.527																																							uc001pmf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(412-414)TCA>TTA		crystallin, alpha B							126.0	107.0	113.0					11																	111779603		2201	4297	6498	SO:0001583	missense	1410				anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding	g.chr11:111779603G>A		CCDS8351.1	11q22.3-q23.1	2014-09-17				ENSG00000109846		"""Heat shock proteins / HSPB"""	2389	protein-coding gene	gene with protein product		123590		CRYA2		8431633	Standard	NM_001885		Approved	HSPB5	uc001pmf.1	P02511		ENST00000533475.1:c.413C>T	11.37:g.111779603G>A	ENSP00000433560:p.Ser138Leu						p.S138L	NM_001885	NP_001876	P02511	CRYAB_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	3	438	-		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	138					B0YIX0|O43416|Q9UC37|Q9UC38|Q9UC39|Q9UC40|Q9UC41	Missense_Mutation	SNP	ENST00000533475.1	37	c.413C>T	CCDS8351.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473767	0.96291	.	.	ENSG00000109846	ENST00000526180;ENST00000533280;ENST00000525823;ENST00000533475;ENST00000527950;ENST00000227251;ENST00000531198;ENST00000528961;ENST00000527899;ENST00000526167	D;D;D;D;D;D;D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92	5.73	5.73	0.89815	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.064020	0.64402	D	0.000004	D	0.97548	0.9197	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98173	1.0453	10	0.87932	D	0	-2.4348	19.9133	0.97031	0.0:0.0:1.0:0.0	.	138	P02511	CRYAB_HUMAN	L	138;71;71;138;138;138;138;71;138;71	ENSP00000436051:S138L;ENSP00000435046:S71L;ENSP00000435411:S71L;ENSP00000433560:S138L;ENSP00000437149:S138L;ENSP00000227251:S138L;ENSP00000434247:S138L;ENSP00000435960:S71L;ENSP00000436089:S138L;ENSP00000434793:S71L	ENSP00000227251:S138L	S	-	2	0	CRYAB	111284813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.151000	0.94674	2.721000	0.93114	0.655000	0.94253	TCA		0.527	CRYAB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391658.1			6	64	0	0	0	0.001168	0	6	64				
HTR3B	9177	broad.mit.edu	37	11	113775684	113775684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:113775684G>A	ENST00000260191.2	+	1	286	c.29G>A	c.(28-30)tGg>tAg	p.W10*		NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	10					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)	p.W10*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	GCTCCCCTGTGGGCCTGCATC	0.433																																							uc001pok.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(28-30)TGG>TAG		5-hydroxytryptamine (serotonin) receptor 3B							112.0	101.0	105.0					11																	113775684		2201	4296	6497	SO:0001587	stop_gained	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113775684G>A	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.29G>A	11.37:g.113775684G>A	ENSP00000260191:p.Trp10*						p.W10*	NM_006028	NP_006019	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	1	96	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	10					B0YJ23|Q0VJC3	Nonsense_Mutation	SNP	ENST00000260191.2	37	c.29G>A	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	G	35	5.571401	0.96553	.	.	ENSG00000149305	ENST00000260191	.	.	.	6.06	5.09	0.68999	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	0.0838	10.8581	0.46810	0.0:0.0:0.7701:0.2299	.	.	.	.	X	10	.	ENSP00000260191:W10X	W	+	2	0	HTR3B	113280894	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	2.698000	0.47068	2.882000	0.98803	0.655000	0.94253	TGG		0.433	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		5	53	0	0	0	0.001984	0	5	53				
CXCR5	643	broad.mit.edu	37	11	118764836	118764836	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:118764836C>T	ENST00000292174.4	+	2	759	c.583C>T	c.(583-585)Cac>Tac	p.H195Y	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	195					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)	p.H195Y(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCAAGGCCATCACAACAACTC	0.572																																							uc001pue.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(583-585)CAC>TAC		Burkitt lymphoma receptor 1 isoform 1							75.0	62.0	66.0					11																	118764836		2200	4295	6495	SO:0001583	missense	643				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr11:118764836C>T	X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	1060	protein-coding gene	gene with protein product		601613	"""Burkitt lymphoma receptor 1, GTP-binding protein"", ""Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"""	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.583C>T	11.37:g.118764836C>T	ENSP00000292174:p.His195Tyr					CXCR5_uc001puf.2_Missense_Mutation_p.H150Y	p.H195Y	NM_001716	NP_001707	P32302	CXCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	2	693	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	195			Extracellular (Potential).		Q14811	Missense_Mutation	SNP	ENST00000292174.4	37	c.583C>T	CCDS8402.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.593089	0.00126	.	.	ENSG00000160683	ENST00000292174	T	0.71341	-0.56	3.96	-0.71	0.11234	GPCR, rhodopsin-like superfamily (1);	1.126930	0.06605	N	0.754526	T	0.39989	0.1099	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34428	-0.9829	10	0.02654	T	1	.	0.4225	0.00458	0.3662:0.2132:0.2151:0.2055	.	195	P32302	CXCR5_HUMAN	Y	195	ENSP00000292174:H195Y	ENSP00000292174:H195Y	H	+	1	0	CXCR5	118270046	0.000000	0.05858	0.314000	0.25224	0.046000	0.14306	-0.086000	0.11233	0.257000	0.21650	0.313000	0.20887	CAC		0.572	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389309.1	NM_001716		4	34	0	0	0	0.009096	0	4	34				
MCAM	4162	broad.mit.edu	37	11	119183321	119183321	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:119183321C>A	ENST00000264036.4	-	7	791	c.777G>T	c.(775-777)gtG>gtT	p.V259V	MCAM_ENST00000530144.2_5'Flank|MCAM_ENST00000392814.1_Silent_p.V208V	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	259	Ig-like C2-type 1.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V259V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TCAGCATTCCCACGGGCTCCA	0.582																																							uc001pwf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(775-777)GTG>GTT		melanoma cell adhesion molecule							98.0	98.0	98.0					11																	119183321		2199	4295	6494	SO:0001819	synonymous_variant	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119183321C>A	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.777G>T	11.37:g.119183321C>A						MCAM_uc001pwg.1_5'Flank	p.V259V	NM_006500	NP_006491	P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	7	806	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	259			Ig-like C2-type 1.|Extracellular (Potential).		O95812|Q59E86|Q6PHR3|Q6ZTR2	Silent	SNP	ENST00000264036.4	37	c.777G>T	CCDS31690.1																																																																																				0.582	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			8	92	1	0	5.18039e-06	0.00308	6.79926e-06	8	92				
RNF26	79102	broad.mit.edu	37	11	119206115	119206115	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:119206115G>A	ENST00000311413.4	+	1	879	c.283G>A	c.(283-285)Gag>Aag	p.E95K	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	95						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.E95K(1)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		CTCTGGCCTAGAGAGCCTAAA	0.602																																							uc001pwh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(283-285)GAG>AAG		ring finger protein 26							123.0	117.0	119.0					11																	119206115		2199	4295	6494	SO:0001583	missense	79102						zinc ion binding	g.chr11:119206115G>A	AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"""RING-type (C3HC4) zinc fingers"""	14646	protein-coding gene	gene with protein product	"""ring finger protein with leucine zipper"""	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.283G>A	11.37:g.119206115G>A	ENSP00000312439:p.Glu95Lys						p.E95K	NM_032015	NP_114404	Q9BY78	RNF26_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)	1	879	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	95			Leu-rich.		Q542Y8	Missense_Mutation	SNP	ENST00000311413.4	37	c.283G>A	CCDS8419.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419340	0.96092	.	.	ENSG00000173456	ENST00000311413	T	0.52526	0.66	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	T	0.65165	0.2665	L	0.55481	1.735	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.67389	-0.5683	10	0.72032	D	0.01	-14.1889	16.6372	0.85062	0.0:0.0:1.0:0.0	.	95	Q9BY78	RNF26_HUMAN	K	95	ENSP00000312439:E95K	ENSP00000312439:E95K	E	+	1	0	RNF26	118711325	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.062000	0.76706	2.462000	0.83206	0.655000	0.94253	GAG		0.602	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015		26	167	0	0	0	0.005443	0	26	167				
GRIK4	2900	broad.mit.edu	37	11	120776177	120776177	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:120776177G>T	ENST00000527524.2	+	13	1738	c.1451G>T	c.(1450-1452)gGa>gTa	p.G484V	GRIK4_ENST00000438375.2_Missense_Mutation_p.G484V	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	484					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		ACCTGGACGGGAATGGTCGGG	0.602																																							uc001pxn.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1450-1452)GGA>GTA		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						100.0	100.0	100.0					11																	120776177		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120776177G>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1451G>T	11.37:g.120776177G>T	ENSP00000435648:p.Gly484Val					GRIK4_uc009zav.1_Missense_Mutation_p.G484V|GRIK4_uc009zaw.1_Missense_Mutation_p.G484V|GRIK4_uc009zax.1_Missense_Mutation_p.G484V	p.G484V	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	13	1738	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	484			Extracellular (Potential).		A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1451G>T	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968005	0.92855	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.95949	-3.86;-3.86	5.33	5.33	0.75918	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.98601	0.9532	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	D	0.99683	1.0999	10	0.87932	D	0	.	19.0102	0.92870	0.0:0.0:1.0:0.0	.	484;484	A6H8K8;Q16099	.;GRIK4_HUMAN	V	484	ENSP00000435648:G484V;ENSP00000404063:G484V	ENSP00000404063:G484V	G	+	2	0	GRIK4	120281387	1.000000	0.71417	0.858000	0.33744	0.998000	0.95712	9.869000	0.99810	2.473000	0.83533	0.655000	0.94253	GGA		0.602	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		22	107	1	0	1.10923e-09	0.00278	1.65014e-09	22	107				
TECTA	7007	broad.mit.edu	37	11	120998690	120998690	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:120998690G>T	ENST00000392793.1	+	9	2275	c.2004G>T	c.(2002-2004)acG>acT	p.T668T	TECTA_ENST00000264037.2_Silent_p.T668T			O75443	TECTA_HUMAN	tectorin alpha	668					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.T668T(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCTGGGCCACGGCCAACTGCA	0.647																																							uc010rzo.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(2002-2004)ACG>ACT		tectorin alpha precursor							86.0	72.0	77.0					11																	120998690		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120998690G>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2004G>T	11.37:g.120998690G>T							p.T668T	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	2004	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	668						Silent	SNP	ENST00000392793.1	37	c.2004G>T	CCDS8434.1																																																																																				0.647	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		8	45	1	0	1.26484e-09	0.00308	1.86932e-09	8	45				
OR10G8	219869	broad.mit.edu	37	11	123900895	123900895	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:123900895C>A	ENST00000431524.1	+	1	599	c.566C>A	c.(565-567)gCa>gAa	p.A189E		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A189E(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGGCCTGTGCAGACACCTCA	0.512																																							uc001pzp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(565-567)GCA>GAA		olfactory receptor, family 10, subfamily G,							196.0	174.0	182.0					11																	123900895		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900895C>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.566C>A	11.37:g.123900895C>A	ENSP00000389072:p.Ala189Glu						p.A189E	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	566	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	189			Extracellular (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.566C>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819536	0.50633	.	.	ENSG00000234560	ENST00000431524	T	0.00130	8.69	3.04	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000285	T	0.00356	0.0011	L	0.55743	1.74	0.30557	N	0.764918	D	0.59767	0.986	D	0.70227	0.968	T	0.56384	-0.7988	10	0.87932	D	0	.	14.1473	0.65357	0.0:1.0:0.0:0.0	.	189	Q8NGN5	O10G8_HUMAN	E	189	ENSP00000389072:A189E	ENSP00000389072:A189E	A	+	2	0	OR10G8	123406105	0.000000	0.05858	1.000000	0.80357	0.787000	0.44495	0.255000	0.18333	1.684000	0.51022	0.650000	0.86243	GCA		0.512	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		26	145	1	0	2.27525e-19	0.003954	3.79069e-19	26	145				
OR8D2	283160	broad.mit.edu	37	11	124189498	124189498	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:124189498A>T	ENST00000357438.2	-	1	686	c.596T>A	c.(595-597)cTg>cAg	p.L199Q		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L199Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AATAATGAACAGCAGAATCTC	0.403																																							uc010sah.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(595-597)CTG>CAG		olfactory receptor, family 8, subfamily D,							95.0	91.0	93.0					11																	124189498		2201	4299	6500	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189498A>T	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.596T>A	11.37:g.124189498A>T	ENSP00000350022:p.Leu199Gln						p.L199Q	NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	596	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	199			Helical; Name=5; (Potential).		B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.596T>A	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	a	18.95	3.732421	0.69189	.	.	ENSG00000197263	ENST00000357438	T	0.00237	8.47	3.55	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.203527	0.24217	N	0.040467	T	0.00496	0.0016	M	0.85710	2.77	0.09310	N	1	D	0.64830	0.994	D	0.66847	0.947	T	0.33523	-0.9865	10	0.87932	D	0	.	7.8521	0.29462	0.9006:0.0:0.0994:0.0	.	199	Q9GZM6	OR8D2_HUMAN	Q	199	ENSP00000350022:L199Q	ENSP00000350022:L199Q	L	-	2	0	OR8D2	123694708	0.000000	0.05858	0.060000	0.19600	0.958000	0.62258	0.864000	0.27926	1.876000	0.54355	0.432000	0.28606	CTG		0.403	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		9	61	0	0	0	0.004482	0	9	61				
NFRKB	4798	broad.mit.edu	37	11	129746672	129746672	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:129746672C>A	ENST00000446488.3	-	16	1794	c.1691G>T	c.(1690-1692)cGg>cTg	p.R564L	NFRKB_ENST00000524794.1_Missense_Mutation_p.R589L|NFRKB_ENST00000304521.5_Missense_Mutation_p.R564L|NFRKB_ENST00000524746.1_Missense_Mutation_p.R564L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	564					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)	p.R589L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGAGTGCTCCCGAGCCTTGTT	0.582																																							uc001qfi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1690-1692)CGG>CTG		nuclear factor related to kappaB binding protein							115.0	93.0	100.0					11																	129746672		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129746672C>A		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1691G>T	11.37:g.129746672C>A	ENSP00000400476:p.Arg564Leu					NFRKB_uc001qfg.2_Missense_Mutation_p.R589L|NFRKB_uc001qfh.2_Missense_Mutation_p.R587L|NFRKB_uc010sbw.1_Missense_Mutation_p.R574L|NFRKB_uc009zcr.2_5'Flank	p.R564L	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	17	1892	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	564					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.1691G>T	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021991	0.93462	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.85080	0.5615	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.995;0.998;0.998	D	0.85830	0.1391	9	0.87932	D	0	-23.9114	20.6439	0.99570	0.0:1.0:0.0:0.0	.	574;564;564;589	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	L	564;564;589;564;574	.	ENSP00000303800:R564L	R	-	2	0	NFRKB	129251882	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	7.416000	0.80143	2.884000	0.98904	0.655000	0.94253	CGG		0.582	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		15	54	1	0	0.000422831	0.004007	0.000489509	15	54				
NTM	50863	broad.mit.edu	37	11	132016339	132016339	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:132016339G>T	ENST00000374786.1	+	2	810	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	NTM_ENST00000539799.1_Missense_Mutation_p.G111C|NTM_ENST00000425719.2_Missense_Mutation_p.G111C|NTM_ENST00000427481.2_Missense_Mutation_p.G102C|NTM_ENST00000374791.3_Missense_Mutation_p.G111C|NTM_ENST00000374784.1_Missense_Mutation_p.G111C	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	111	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G111C(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GTATGACGAGGGCCCTTACAC	0.577																																							uc001qgp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(331-333)GGC>TGC		neurotrimin isoform 1							170.0	117.0	135.0					11																	132016339		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132016339G>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.331G>T	11.37:g.132016339G>T	ENSP00000363918:p.Gly111Cys					NTM_uc001qgm.2_Missense_Mutation_p.G111C|NTM_uc010sch.1_Missense_Mutation_p.G102C|NTM_uc010sci.1_Missense_Mutation_p.G111C|NTM_uc010scj.1_Missense_Mutation_p.G70C|NTM_uc001qgo.2_Missense_Mutation_p.G111C|NTM_uc001qgq.2_Missense_Mutation_p.G111C	p.G111C	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			2	995	+			111			Ig-like C2-type 1.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.331G>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038090	0.93630	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.58	5.58	0.84498	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85133	0.5627	H	0.96777	3.88	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.89846	0.4006	10	0.87932	D	0	-23.4631	19.5604	0.95369	0.0:0.0:1.0:0.0	.	111;102;111;111;111;111	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	C	111;111;102;102;111;111;111	ENSP00000363923:G111C;ENSP00000437668:G111C;ENSP00000448104:G102C;ENSP00000416320:G102C;ENSP00000363918:G111C;ENSP00000396722:G111C;ENSP00000363916:G111C	ENSP00000363916:G111C	G	+	1	0	NTM	131521549	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.852000	0.99516	2.631000	0.89168	0.655000	0.94253	GGC		0.577	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		7	41	1	0	0.000157383	0.00308	0.00018675	7	41				
IQSEC3	440073	broad.mit.edu	37	12	272696	272696	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:272696A>G	ENST00000538872.1	+	9	2738	c.2620A>G	c.(2620-2622)Agc>Ggc	p.S874G	IQSEC3_ENST00000382841.2_Missense_Mutation_p.S571G|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S874G|RP11-598F7.5_ENST00000540136.1_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	874	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.S571G(1)|p.S874G(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGTGTGCTGCAGCCGGCTCTT	0.672																																							uc001qhw.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(1711-1713)AGC>GGC		IQ motif and Sec7 domain 3							79.0	78.0	78.0					12																	272696		2203	4299	6502	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:272696A>G	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2620A>G	12.37:g.272696A>G	ENSP00000437554:p.Ser874Gly					IQSEC3_uc001qhu.1_Missense_Mutation_p.S571G	p.S571G	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	6	1717	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		874			PH.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.1711A>G	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	a	20.3	3.966662	0.74131	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.13657	2.57;2.57;2.57	3.96	2.77	0.32553	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.125813	0.64402	D	0.000001	T	0.20981	0.0505	M	0.64997	1.995	0.53688	D	0.999977	P;P	0.44946	0.846;0.841	P;P	0.48598	0.573;0.583	T	0.01452	-1.1351	10	0.66056	D	0.02	.	10.2772	0.43517	0.8517:0.0:0.0:0.1483	.	874;571	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	G	874;874;571	ENSP00000437554:S874G;ENSP00000315662:S874G;ENSP00000372292:S571G	ENSP00000315662:S874G	S	+	1	0	IQSEC3	142957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.939000	0.56591	0.838000	0.34948	0.529000	0.55759	AGC		0.672	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		18	61	0	0	0	0.008871	0	18	61				
SLC6A12	6539	broad.mit.edu	37	12	305962	305962	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:305962G>A	ENST00000428720.1	-	11	1905	c.1162C>T	c.(1162-1164)Ctc>Ttc	p.L388F	SLC6A12_ENST00000424061.2_Missense_Mutation_p.L388F|SLC6A12_ENST00000538272.1_5'Flank|SLC6A12_ENST00000397296.2_Missense_Mutation_p.L388F|RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000536824.1_Missense_Mutation_p.L388F|SLC6A12_ENST00000359674.4_Missense_Mutation_p.L388F	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	388					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.L388F(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGGAATATGAGCATGATAAAG	0.572																																							uc001qhz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1162-1164)CTC>TTC		solute carrier family 6 (neurotransmitter							130.0	113.0	118.0					12																	305962		2203	4300	6503	SO:0001583	missense	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:305962G>A	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1162C>T	12.37:g.305962G>A	ENSP00000388184:p.Leu388Phe					SLC6A12_uc001qhx.2_Missense_Mutation_p.L45F|SLC6A12_uc001qhy.2_Intron|SLC6A12_uc001qia.2_Missense_Mutation_p.L388F|SLC6A12_uc001qib.2_Missense_Mutation_p.L388F|SLC6A12_uc009zdh.1_Missense_Mutation_p.L388F	p.L388F	NM_003044	NP_003035	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		12	1705	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		388			Helical; Name=8; (Potential).		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	c.1162C>T	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427458	0.62733	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	4.26	4.26	0.50523	.	0.162470	0.41938	D	0.000796	D	0.91150	0.7213	M	0.87617	2.895	0.58432	D	0.999992	P	0.49185	0.92	P	0.60415	0.874	D	0.92911	0.6347	10	0.66056	D	0.02	.	16.8701	0.86038	0.0:0.0:1.0:0.0	.	388	P48065	S6A12_HUMAN	F	388	ENSP00000352702:L388F;ENSP00000380464:L388F;ENSP00000388184:L388F;ENSP00000399136:L388F;ENSP00000444268:L388F	ENSP00000352702:L388F	L	-	1	0	SLC6A12	176223	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	2.280000	0.43443	2.194000	0.70268	0.478000	0.44815	CTC		0.572	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		7	92	0	0	0	0.001984	0	7	92				
ANO2	57101	broad.mit.edu	37	12	5724394	5724394	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:5724394T>C	ENST00000356134.5	-	19	1960	c.1889A>G	c.(1888-1890)aAt>aGt	p.N630S	ANO2_ENST00000546188.1_Missense_Mutation_p.N630S|ANO2_ENST00000327087.8_Missense_Mutation_p.N629S	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	634					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.N630S(1)|p.N629S(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGAGTAGGCATTGACAAACTT	0.448																																							uc001qnm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(1885-1887)AAT>AGT		anoctamin 2							86.0	83.0	84.0					12																	5724394		1958	4160	6118	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5724394T>C	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1889A>G	12.37:g.5724394T>C	ENSP00000348453:p.Asn630Ser						p.N629S	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			18	1958	-			634			Helical; (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1886A>G		.	.	.	.	.	.	.	.	.	.	T	22.4	4.285115	0.80803	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	4.64	4.64	0.57946	.	0.087208	0.85682	D	0.000000	T	0.78039	0.4221	M	0.86651	2.83	0.80722	D	1	P	0.48640	0.913	P	0.52109	0.69	T	0.82627	-0.0364	10	0.87932	D	0	.	12.3608	0.55203	0.0:0.0:0.0:1.0	.	629	Q9NQ90-3	.	S	629;630;630;634;189	ENSP00000314048:N629S;ENSP00000348453:N630S;ENSP00000440981:N630S;ENSP00000443813:N189S	ENSP00000314048:N629S	N	-	2	0	ANO2	5594655	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.610000	0.82949	2.084000	0.62774	0.529000	0.55759	AAT		0.448	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		3	42	0	0	0	0.004672	0	3	42				
MRPL51	51258	broad.mit.edu	37	12	6602071	6602071	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:6602071C>G	ENST00000229238.3	-	2	608	c.147G>C	c.(145-147)gaG>gaC	p.E49D	NCAPD2_ENST00000545962.1_5'Flank|MRPL51_ENST00000543703.1_Intron|MRPL51_ENST00000543164.1_5'UTR|NCAPD2_ENST00000315579.5_5'Flank	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	49					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.E49D(1)		kidney(2)|large_intestine(1)|lung(3)	6						TGGCCCTTTTCTCGTTCCAAC	0.507																																							uc001qom.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(145-147)GAG>GAC		mitochondrial ribosomal protein L51 precursor							98.0	100.0	100.0					12																	6602071		2203	4300	6503	SO:0001583	missense	51258				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr12:6602071C>G	AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.147G>C	12.37:g.6602071C>G	ENSP00000229238:p.Glu49Asp					MRPL51_uc001qon.1_RNA|NCAPD2_uc009zen.1_5'Flank|NCAPD2_uc001qoo.2_5'Flank|NCAPD2_uc010sfd.1_5'Flank	p.E49D	NM_016497	NP_057581	Q4U2R6	RM51_HUMAN			2	316	-			49					Q96Q57|Q9BQ36|Q9P0N7	Missense_Mutation	SNP	ENST00000229238.3	37	c.147G>C	CCDS8547.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617807	0.66787	.	.	ENSG00000111639	ENST00000229238	T	0.45276	0.9	4.96	4.08	0.47627	.	0.146054	0.64402	D	0.000009	T	0.46737	0.1408	M	0.76838	2.35	0.54753	D	0.999987	D	0.53151	0.958	P	0.45753	0.492	T	0.51513	-0.8696	10	0.66056	D	0.02	-15.9561	8.6373	0.33957	0.0:0.7655:0.1526:0.0819	.	49	Q4U2R6	RM51_HUMAN	D	49	ENSP00000229238:E49D	ENSP00000229238:E49D	E	-	3	2	MRPL51	6472332	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.209000	0.58493	1.081000	0.41110	0.462000	0.41574	GAG		0.507	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	NM_016497		6	94	0	0	0	0.004482	0	6	94				
CD163L1	283316	broad.mit.edu	37	12	7548878	7548878	+	Nonsense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:7548878A>T	ENST00000313599.3	-	8	1920	c.1863T>A	c.(1861-1863)tgT>tgA	p.C621*	CD163L1_ENST00000416109.2_Nonsense_Mutation_p.C631*|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.C621*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	621	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.C621*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCAGCTGGCTACACACCACAG	0.527																																							uc001qsy.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(1861-1863)TGT>TGA		scavenger receptor cysteine-rich type 1							129.0	101.0	111.0					12																	7548878		2203	4300	6503	SO:0001587	stop_gained	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7548878A>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1863T>A	12.37:g.7548878A>T	ENSP00000315945:p.Cys621*					CD163L1_uc010sge.1_Nonsense_Mutation_p.C631*	p.C621*	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			8	1889	-			621			SRCR 6.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Nonsense_Mutation	SNP	ENST00000313599.3	37	c.1863T>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626491	0.28978	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000545926	.	.	.	2.24	0.567	0.17325	.	0.000000	0.56097	U	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.8972	0.13757	0.5099:0.0:0.4901:0.0	.	.	.	.	X	621;631;621;160	.	ENSP00000315945:C621X	C	-	3	2	CD163L1	7440145	0.000000	0.05858	0.004000	0.12327	0.207000	0.24258	-0.539000	0.06113	0.112000	0.17975	0.460000	0.39030	TGT		0.527	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		11	23	0	0	0	0.000978	0	11	23				
CLEC4D	338339	broad.mit.edu	37	12	8672847	8672847	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:8672847G>A	ENST00000299665.2	+	5	603	c.410G>A	c.(409-411)aGa>aAa	p.R137K		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	137	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R137K(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					TTTCTGGATAGACGGCTTTCC	0.383																																							uc001qun.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(409-411)AGA>AAA		C-type lectin domain family 4, member D							91.0	93.0	92.0					12																	8672847		2203	4300	6503	SO:0001583	missense	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8672847G>A	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.410G>A	12.37:g.8672847G>A	ENSP00000299665:p.Arg137Lys						p.R137K	NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN			5	603	+	Lung SC(5;0.184)		137			C-type lectin.|Extracellular (Potential).		Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	c.410G>A	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	G	0.322	-0.961370	0.02249	.	.	ENSG00000166527	ENST00000382064;ENST00000299665	T;T	0.18174	2.23;2.23	4.82	-1.53	0.08611	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.07593	0.0191	N	0.17872	0.535	0.09310	N	1	B	0.18013	0.025	B	0.15052	0.012	T	0.42565	-0.9444	9	0.07813	T	0.8	.	4.9763	0.14142	0.5084:0.181:0.3106:0.0	.	137	Q8WXI8	CLC4D_HUMAN	K	137	ENSP00000371496:R137K;ENSP00000299665:R137K	ENSP00000299665:R137K	R	+	2	0	CLEC4D	8564114	0.000000	0.05858	0.039000	0.18376	0.113000	0.19764	-0.065000	0.11617	-0.192000	0.10432	0.643000	0.83706	AGA		0.383	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		8	75	0	0	0	0.00308	0	8	75				
CLEC1B	51266	broad.mit.edu	37	12	10145867	10145867	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:10145867C>T	ENST00000298527.6	-	6	744	c.565G>A	c.(565-567)Gga>Aga	p.G189R	CLEC1B_ENST00000348658.4_Missense_Mutation_p.G156R|CLEC1B_ENST00000428126.2_Missense_Mutation_p.G156R	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	189	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.G189R(1)|p.G98R(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TTTCCTTTTCCATCTTCCAAA	0.353																																							uc001qwu.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(565-567)GGA>AGA		C-type lectin domain family 1, member B isoform							84.0	77.0	79.0					12																	10145867		1845	4086	5931	SO:0001583	missense	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10145867C>T	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.565G>A	12.37:g.10145867C>T	ENSP00000298527:p.Gly189Arg					CLEC1B_uc009zhd.2_Missense_Mutation_p.G156R	p.G189R	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN			6	765	-			189			C-type lectin.|Extracellular (Potential).		Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	c.565G>A	CCDS41752.1	.	.	.	.	.	.	.	.	.	.	C	0.592	-0.832760	0.02713	.	.	ENSG00000165682	ENST00000428126;ENST00000298527;ENST00000348658;ENST00000398939	T;T;T	0.18174	2.23;2.23;2.23	4.47	2.6	0.31112	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	2.056800	0.02436	N	0.084046	T	0.21509	0.0518	L	0.29908	0.895	0.09310	N	1	D;D	0.56521	0.97;0.976	P;P	0.53490	0.584;0.727	T	0.20907	-1.0261	10	0.17832	T	0.49	.	6.3404	0.21319	0.0:0.7601:0.0:0.2399	.	156;189	Q9P126-2;Q9P126	.;CLC1B_HUMAN	R	156;189;156;98	ENSP00000406338:G156R;ENSP00000298527:G189R;ENSP00000327169:G156R	ENSP00000298527:G189R	G	-	1	0	CLEC1B	10037134	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.775000	0.26689	0.303000	0.22785	-0.339000	0.08088	GGA		0.353	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		11	66	0	0	0	0.008291	0	11	66				
GPR19	2842	broad.mit.edu	37	12	12814875	12814875	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:12814875G>A	ENST00000540510.1	-	2	700	c.508C>T	c.(508-510)Cct>Tct	p.P170S	GPR19_ENST00000332427.2_Missense_Mutation_p.P170S			P46093	GPR4_HUMAN	G protein-coupled receptor 19	122					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P170S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AAGCTCAGAGGATAGACGATG	0.473																																							uc001rar.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(508-510)CCT>TCT		G protein-coupled receptor 19							130.0	113.0	119.0					12																	12814875		2203	4300	6503	SO:0001583	missense	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12814875G>A		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.508C>T	12.37:g.12814875G>A	ENSP00000441832:p.Pro170Ser					GPR19_uc001raq.2_Missense_Mutation_p.P170S	p.P170S	NM_006143	NP_006134	Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	2	701	-		Prostate(47;0.0802)	170			Cytoplasmic (Potential).		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000540510.1	37	c.508C>T	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115343	0.56505	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	T;T	0.60920	0.15;0.15	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	M	0.77616	2.38	0.80722	D	1	D	0.69078	0.997	D	0.70016	0.967	T	0.79408	-0.1816	10	0.72032	D	0.01	-16.8328	19.3808	0.94532	0.0:0.0:1.0:0.0	.	170	Q15760	GPR19_HUMAN	S	170	ENSP00000441832:P170S;ENSP00000333744:P170S	ENSP00000333744:P170S	P	-	1	0	GPR19	12706142	1.000000	0.71417	0.899000	0.35326	0.051000	0.14879	9.793000	0.99091	2.676000	0.91093	0.561000	0.74099	CCT		0.473	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		28	76	0	0	0	0.002445	0	28	76				
GPR19	2842	broad.mit.edu	37	12	12815044	12815044	+	Silent	SNP	G	G	A	rs143793074		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:12815044G>A	ENST00000540510.1	-	2	531	c.339C>T	c.(337-339)ctC>ctT	p.L113L	GPR19_ENST00000332427.2_Silent_p.L113L			P46093	GPR4_HUMAN	G protein-coupled receptor 19	65					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L113L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		CAACGCTGATGAGAAGGTCAG	0.512																																							uc001rar.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(337-339)CTC>CTT		G protein-coupled receptor 19		G		1,4405	2.1+/-5.4	0,1,2202	130.0	111.0	117.0		339	0.0	0.0	12	dbSNP_134	117	0,8600		0,0,4300	no	coding-synonymous	GPR19	NM_006143.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		113/416	12815044	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12815044G>A		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.339C>T	12.37:g.12815044G>A						GPR19_uc001raq.2_Silent_p.L113L	p.L113L	NM_006143	NP_006134	Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	2	532	-		Prostate(47;0.0802)	113			Helical; Name=2; (Potential).		A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000540510.1	37	c.339C>T	CCDS8652.1																																																																																				0.512	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		12	43	0	0	0	0.000978	0	12	43				
GPR19	2842	broad.mit.edu	37	12	12815046	12815046	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:12815046G>A	ENST00000540510.1	-	2	529	c.337C>T	c.(337-339)Ctc>Ttc	p.L113F	GPR19_ENST00000332427.2_Missense_Mutation_p.L113F			P46093	GPR4_HUMAN	G protein-coupled receptor 19	65					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L113F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		ACGCTGATGAGAAGGTCAGCA	0.507																																							uc001rar.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(337-339)CTC>TTC		G protein-coupled receptor 19							131.0	112.0	119.0					12																	12815046		2203	4300	6503	SO:0001583	missense	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12815046G>A		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.337C>T	12.37:g.12815046G>A	ENSP00000441832:p.Leu113Phe					GPR19_uc001raq.2_Missense_Mutation_p.L113F	p.L113F	NM_006143	NP_006134	Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	2	530	-		Prostate(47;0.0802)	113			Helical; Name=2; (Potential).		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000540510.1	37	c.337C>T	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894204	0.33442	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	T;T	0.48522	0.81;0.81	5.28	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.64527	0.2606	M	0.64170	1.965	0.54753	D	0.999981	D	0.69078	0.997	D	0.68039	0.955	T	0.69030	-0.5253	10	0.72032	D	0.01	-24.815	15.1532	0.72717	0.0:0.267:0.733:0.0	.	113	Q15760	GPR19_HUMAN	F	113	ENSP00000441832:L113F;ENSP00000333744:L113F	ENSP00000333744:L113F	L	-	1	0	GPR19	12706313	1.000000	0.71417	0.056000	0.19401	0.018000	0.09664	6.297000	0.72757	1.439000	0.47511	-0.176000	0.13171	CTC		0.507	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		11	45	0	0	0	0.000978	0	11	45				
GPR19	2842	broad.mit.edu	37	12	12815116	12815116	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:12815116G>A	ENST00000540510.1	-	2	459	c.267C>T	c.(265-267)gtC>gtT	p.V89V	GPR19_ENST00000332427.2_Silent_p.V89V			P46093	GPR4_HUMAN	G protein-coupled receptor 19	41					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V89V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		TCCTATGGATGACCAAACAAA	0.507																																							uc001rar.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(265-267)GTC>GTT		G protein-coupled receptor 19							149.0	141.0	143.0					12																	12815116		2203	4300	6503	SO:0001819	synonymous_variant	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12815116G>A		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.267C>T	12.37:g.12815116G>A						GPR19_uc001raq.2_Silent_p.V89V	p.V89V	NM_006143	NP_006134	Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	2	460	-		Prostate(47;0.0802)	89			Helical; Name=1; (Potential).		A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000540510.1	37	c.267C>T	CCDS8652.1																																																																																				0.507	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		15	52	0	0	0	0.004007	0	15	52				
GPR19	2842	broad.mit.edu	37	12	12815160	12815160	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:12815160G>A	ENST00000540510.1	-	2	415	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	GPR19_ENST00000332427.2_Silent_p.L75L			P46093	GPR4_HUMAN	G protein-coupled receptor 19	0					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L75L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AACAACCACAGAATCCCAAAG	0.488																																							uc001rar.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(223-225)CTG>TTG		G protein-coupled receptor 19							157.0	158.0	158.0					12																	12815160		2203	4300	6503	SO:0001819	synonymous_variant	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12815160G>A		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.223C>T	12.37:g.12815160G>A						GPR19_uc001raq.2_Silent_p.L75L	p.L75L	NM_006143	NP_006134	Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	2	416	-		Prostate(47;0.0802)	75			Helical; Name=1; (Potential).		A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000540510.1	37	c.223C>T	CCDS8652.1																																																																																				0.488	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		21	73	0	0	0	0.008871	0	21	73				
SLCO1A2	6579	broad.mit.edu	37	12	21422677	21422677	+	Silent	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:21422677T>A	ENST00000307378.6	-	16	2538	c.1818A>T	c.(1816-1818)gcA>gcT	p.A606A	SLCO1A2_ENST00000458504.1_Silent_p.A474A|SLCO1A2_ENST00000452078.1_Silent_p.A606A|SLCO1A2_ENST00000537524.1_Silent_p.A474A	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	606					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.A606A(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	CTCTTAGTGCTGCCGGCAATC	0.343																																							uc001rer.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1816-1818)GCA>GCT		organic anion transporting polypeptide A							80.0	77.0	78.0					12																	21422677		2203	4299	6502	SO:0001819	synonymous_variant	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21422677T>A		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1818A>T	12.37:g.21422677T>A						SLCO1A2_uc001res.2_Silent_p.A606A|SLCO1A2_uc010siq.1_Silent_p.A474A|SLCO1A2_uc010sio.1_Silent_p.A474A|SLCO1A2_uc010sip.1_Silent_p.A474A	p.A606A	NM_021094	NP_066580	P46721	SO1A2_HUMAN			14	2069	-			606			Helical; Name=12; (Potential).		Q9UGP7|Q9UL38	Silent	SNP	ENST00000307378.6	37	c.1818A>T	CCDS8686.1																																																																																				0.343	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		4	27	0	0	0	0.001168	0	4	27				
KCNJ8	3764	broad.mit.edu	37	12	21919187	21919187	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:21919187G>C	ENST00000240662.2	-	3	1090	c.745C>G	c.(745-747)Cct>Gct	p.P249A	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	249					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.P249A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TTATCAACAGGAATGTCCAGT	0.483																																							uc001rff.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(745-747)CCT>GCT		potassium inwardly-rectifying channel J8	Levosimendan(DB00922)						100.0	93.0	95.0					12																	21919187		2203	4300	6503	SO:0001583	missense	3764					voltage-gated potassium channel complex		g.chr12:21919187G>C	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.745C>G	12.37:g.21919187G>C	ENSP00000240662:p.Pro249Ala						p.P249A	NM_004982	NP_004973	Q15842	IRK8_HUMAN			3	1083	-			249			Cytoplasmic (By similarity).		O00657	Missense_Mutation	SNP	ENST00000240662.2	37	c.745C>G	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242640	0.39598	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.93488	-3.23	5.35	5.35	0.76521	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.160456	0.64402	D	0.000020	D	0.91202	0.7228	L	0.42686	1.345	0.44227	D	0.997065	B	0.11235	0.004	B	0.16289	0.015	D	0.86797	0.1989	10	0.54805	T	0.06	.	19.2644	0.93980	0.0:0.0:1.0:0.0	.	249	Q15842	IRK8_HUMAN	A	249	ENSP00000240662:P249A	ENSP00000240662:P249A	P	-	1	0	KCNJ8	21810454	1.000000	0.71417	0.795000	0.32087	0.902000	0.53008	7.742000	0.85008	2.782000	0.95742	0.563000	0.77884	CCT		0.483	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		18	45	0	0	0	0.00499	0	18	45				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_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		5	27	1	0	0.00198382	0.001984	0.00221159	5	27				
TMTC1	83857	broad.mit.edu	37	12	29908738	29908738	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:29908738C>A	ENST00000539277.1	-	4	693	c.635G>T	c.(634-636)gGg>gTg	p.G212V	TMTC1_ENST00000256062.5_Missense_Mutation_p.G104V|TMTC1_ENST00000381224.2_Missense_Mutation_p.G104V|TMTC1_ENST00000552618.1_Missense_Mutation_p.G212V|TMTC1_ENST00000551659.1_Missense_Mutation_p.G212V	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	212						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.G104V(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CGCACAGGTCCCCAGAAACAA	0.493																																							uc001rjb.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(310-312)GGG>GTG		transmembrane and tetratricopeptide repeat							101.0	92.0	95.0					12																	29908738		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29908738C>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.635G>T	12.37:g.29908738C>A	ENSP00000442046:p.Gly212Val					TMTC1_uc001rjc.1_Missense_Mutation_p.G104V	p.G104V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			4	785	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		212			Helical; (Potential).		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.311G>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764966	0.90020	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.69306	-0.39;-0.12;-0.37;-0.24;1.44	5.45	5.45	0.79879	.	0.107986	0.64402	D	0.000005	T	0.73528	0.3598	L	0.31476	0.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.989	T	0.71374	-0.4612	9	.	.	.	-23.1632	17.8618	0.88784	0.0:1.0:0.0:0.0	.	104;212	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	V	104;212;212;212;104	ENSP00000256062:G104V;ENSP00000448112:G212V;ENSP00000449043:G212V;ENSP00000442046:G212V;ENSP00000370622:G104V	.	G	-	2	0	TMTC1	29800005	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.881000	0.75584	2.555000	0.86185	0.563000	0.77884	GGG		0.493	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		11	55	1	0	9.70103e-10	0.008291	1.44555e-09	11	55				
DENND5B	160518	broad.mit.edu	37	12	31632962	31632962	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:31632962C>A	ENST00000389082.5	-	3	729	c.465G>T	c.(463-465)atG>atT	p.M155I	DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000306833.6_Missense_Mutation_p.M190I|DENND5B_ENST00000354285.4_Missense_Mutation_p.M177I|DENND5B_ENST00000536562.1_Missense_Mutation_p.M190I	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	155					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.M155I(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCAATGAGTCCATACTGCAGG	0.423																																							uc001rki.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(463-465)ATG>ATT		DENN/MADD domain containing 5B							131.0	126.0	128.0					12																	31632962		2055	4213	6268	SO:0001583	missense	160518					integral to membrane		g.chr12:31632962C>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.465G>T	12.37:g.31632962C>A	ENSP00000373734:p.Met155Ile					DENND5B_uc001rkh.1_Missense_Mutation_p.M190I|DENND5B_uc009zjq.1_Missense_Mutation_p.M74I|DENND5B_uc001rkj.2_Missense_Mutation_p.M177I|DENND5B_uc001rkk.1_Missense_Mutation_p.M77I	p.M155I	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			3	651	-			155					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.465G>T	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249985	0.39797	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.06608	3.79;3.9;3.9;3.29;3.28	4.65	3.75	0.43078	.	0.296795	0.34002	N	0.004351	T	0.05273	0.0140	N	0.16478	0.41	0.80722	D	1	B;B;B;B;B	0.16603	0.004;0.008;0.018;0.001;0.01	B;B;B;B;B	0.18561	0.008;0.022;0.015;0.002;0.015	T	0.38373	-0.9664	10	0.37606	T	0.19	-16.9074	14.8821	0.70542	0.0:0.8559:0.1441:0.0	.	190;77;177;155;190	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	I	155;190;190;177;107	ENSP00000373734:M155I;ENSP00000306482:M190I;ENSP00000444889:M190I;ENSP00000346238:M177I;ENSP00000442938:M107I	ENSP00000306482:M190I	M	-	3	0	DENND5B	31524229	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	3.450000	0.52957	1.164000	0.42652	0.655000	0.94253	ATG		0.423	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		13	86	1	0	1.49906e-05	0.00245	1.90119e-05	13	86				
FGD4	121512	broad.mit.edu	37	12	32751515	32751515	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:32751515G>C	ENST00000427716.2	+	5	1109	c.685G>C	c.(685-687)Gat>Cat	p.D229H	FGD4_ENST00000525053.1_Missense_Mutation_p.D341H|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000381025.3_5'UTR|FGD4_ENST00000534526.2_Missense_Mutation_p.D366H|FGD4_ENST00000546442.1_Missense_Mutation_p.D136H|FGD4_ENST00000531134.1_Missense_Mutation_p.D314H	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	229	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.D229H(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGACCTCTTAGATCAGGTAAG	0.313																																							uc001rkz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(685-687)GAT>CAT		FYVE, RhoGEF and PH domain containing 4							72.0	72.0	72.0					12																	32751515		2203	4299	6502	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32751515G>C	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.685G>C	12.37:g.32751515G>C	ENSP00000394487:p.Asp229His					FGD4_uc001rlc.2_Missense_Mutation_p.D314H|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.D341H|FGD4_uc001rlb.1_RNA	p.D229H	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			5	1162	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		229			DH.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.685G>C	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924523	0.73213	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000546442;ENST00000525053	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	4.91	4.0	0.46444	Dbl homology (DH) domain (5);	0.000000	0.53938	D	0.000054	T	0.76111	0.3942	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	0.989;0.997;1.0	D;D;D	0.97110	0.978;0.977;1.0	T	0.78738	-0.2087	10	0.87932	D	0	-15.2491	13.1657	0.59569	0.0:0.0:0.84:0.16	.	341;314;229	E9PJX4;B7Z493;Q96M96	.;.;FGD4_HUMAN	H	366;314;229;136;341	ENSP00000449273:D366H;ENSP00000431323:D314H;ENSP00000394487:D229H;ENSP00000446695:D136H;ENSP00000433666:D341H	ENSP00000379089:D229H	D	+	1	0	FGD4	32642782	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.654000	0.91092	1.170000	0.42753	0.655000	0.94253	GAT		0.313	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		23	76	0	0	0	0.00278	0	23	76				
CPNE8	144402	broad.mit.edu	37	12	39064600	39064600	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:39064600C>G	ENST00000331366.5	-	19	1533	c.1437G>C	c.(1435-1437)atG>atC	p.M479I	CPNE8_ENST00000538596.2_Missense_Mutation_p.M148I|CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000360449.3_Missense_Mutation_p.M467I	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	479	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)		p.M479I(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CCAATTCGACCATTGCTTTAA	0.328																																							uc001rls.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1435-1437)ATG>ATC		copine VIII							86.0	86.0	86.0					12																	39064600		2203	4298	6501	SO:0001583	missense	144402							g.chr12:39064600C>G	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1437G>C	12.37:g.39064600C>G	ENSP00000329748:p.Met479Ile					CPNE8_uc001rlr.1_Missense_Mutation_p.M138I	p.M479I	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN			19	1521	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	479			VWFA.		Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.1437G>C	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406474	0.83230	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	T;T;T	0.21734	1.99;1.99;1.99	4.87	4.87	0.63330	von Willebrand factor, type A (2);	0.041872	0.85682	D	0.000000	T	0.55097	0.1899	M	0.93898	3.47	0.80722	D	1	D	0.57899	0.981	P	0.60949	0.881	T	0.68648	-0.5353	10	0.87932	D	0	-26.912	17.6702	0.88214	0.0:1.0:0.0:0.0	.	479	Q86YQ8	CPNE8_HUMAN	I	479;148;467	ENSP00000329748:M479I;ENSP00000439237:M148I;ENSP00000353633:M467I	ENSP00000329748:M479I	M	-	3	0	CPNE8	37350867	1.000000	0.71417	0.976000	0.42696	0.774000	0.43823	6.814000	0.75236	2.627000	0.88993	0.655000	0.94253	ATG		0.328	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		7	29	0	0	0	0.001984	0	7	29				
PDZRN4	29951	broad.mit.edu	37	12	41967324	41967324	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:41967324G>T	ENST00000402685.2	+	10	2751	c.2743G>T	c.(2743-2745)Gcc>Tcc	p.A915S	PDZRN4_ENST00000539469.2_Missense_Mutation_p.A657S|PDZRN4_ENST00000298919.7_Missense_Mutation_p.A655S	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	915							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A657S(1)|p.A915S(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAGGAACGTGCCTTAAAGAT	0.517																																							uc010skn.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(2146-2148)GCC>TCC		PDZ domain containing RING finger 4 isoform 2							95.0	88.0	90.0					12																	41967324		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967324G>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2743G>T	12.37:g.41967324G>T	ENSP00000384197:p.Ala915Ser					PDZRN4_uc001rmq.3_Missense_Mutation_p.A657S|PDZRN4_uc009zjz.2_Missense_Mutation_p.A655S|PDZRN4_uc001rmr.2_Missense_Mutation_p.A542S	p.A716S	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	2214	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	915					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.2146G>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865029	0.91511	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.35236	1.32;1.32;1.32	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	0.975;1.0;0.997	D;D;D	0.87578	0.94;0.998;0.992	T	0.68066	-0.5507	10	0.87932	D	0	-31.3893	19.939	0.97151	0.0:0.0:1.0:0.0	.	915;655;657	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	S	915;657;655	ENSP00000384197:A915S;ENSP00000439990:A657S;ENSP00000298919:A655S	ENSP00000298919:A655S	A	+	1	0	PDZRN4	40253591	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.813000	0.99286	2.890000	0.99128	0.650000	0.86243	GCC		0.517	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		14	53	1	0	1.49906e-05	0.00245	1.90119e-05	14	53				
HDAC7	51564	broad.mit.edu	37	12	48190850	48190850	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:48190850T>C	ENST00000427332.2	-	7	692	c.536A>G	c.(535-537)aAg>aGg	p.K179R	HDAC7_ENST00000552960.1_Missense_Mutation_p.K201R|HDAC7_ENST00000380610.4_Missense_Mutation_p.K235R|HDAC7_ENST00000080059.7_Missense_Mutation_p.K218R|HDAC7_ENST00000354334.3_Missense_Mutation_p.K218R			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	179	Transcription repression 1. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.K179R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CGCACTCTCCTTTCGGAGCAG	0.652																																							uc009zkv.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(535-537)AAG>AGG		Synthetic construct DNA, clone: pF1KB0470, Homo sapiens HDAC7 gene for histone deacetylase 7, without stop codon, in Flexi system.							59.0	59.0	59.0					12																	48190850		2203	4300	6503	SO:0001583	missense	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48190850T>C	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.536A>G	12.37:g.48190850T>C	ENSP00000404394:p.Lys179Arg					HDAC7_uc010slo.1_Missense_Mutation_p.K218R|HDAC7_uc001rqj.3_Missense_Mutation_p.K218R|HDAC7_uc001rqk.3_Missense_Mutation_p.K201R	p.K179R			Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	5	751	-			179			Transcription repression 1 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37	c.536A>G		.	.	.	.	.	.	.	.	.	.	T	13.36	2.212802	0.39102	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332;ENST00000430670	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	4.73	4.73	0.59995	.	0.159524	0.53938	D	0.000050	T	0.36220	0.0959	N	0.02011	-0.69	0.50313	D	0.999861	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.996	T	0.35500	-0.9786	10	0.02654	T	1	.	13.4641	0.61243	0.0:0.0:0.0:1.0	.	218;201;218	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	R	218;218;201;235;179;194	ENSP00000080059:K218R;ENSP00000351326:K218R;ENSP00000448532:K201R;ENSP00000369984:K235R;ENSP00000404394:K179R;ENSP00000396159:K194R	ENSP00000080059:K218R	K	-	2	0	HDAC7	46477117	1.000000	0.71417	0.992000	0.48379	0.552000	0.35366	5.504000	0.66968	2.113000	0.64589	0.459000	0.35465	AAG		0.652	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			7	56	0	0	0	0.001984	0	7	56				
OR8S1	341568	broad.mit.edu	37	12	48919816	48919816	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:48919816G>T	ENST00000310194.1	+	1	402	c.402G>T	c.(400-402)caG>caT	p.Q134H	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q134H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TTTATGGACAGATCATGGGTA	0.522																																							uc010slu.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(400-402)CAG>CAT		olfactory receptor, family 8, subfamily S,							150.0	136.0	141.0					12																	48919816		2203	4300	6503	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48919816G>T		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.402G>T	12.37:g.48919816G>T	ENSP00000310632:p.Gln134His						p.Q134H	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			1	402	+			134			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000310194.1	37	c.402G>T	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352389	0.24512	.	.	ENSG00000197376	ENST00000310194	T	0.01347	4.99	5.03	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	N	0.001509	T	0.01940	0.0061	M	0.63843	1.955	0.09310	N	1	P	0.37573	0.6	B	0.33690	0.168	T	0.41858	-0.9485	10	0.66056	D	0.02	-22.1672	8.1284	0.31012	0.0857:0.0:0.7566:0.1577	.	134	Q8NH09	OR8S1_HUMAN	H	134	ENSP00000310632:Q134H	ENSP00000310632:Q134H	Q	+	3	2	OR8S1	47206083	0.000000	0.05858	0.878000	0.34440	0.969000	0.65631	-0.451000	0.06795	1.315000	0.45114	0.655000	0.94253	CAG		0.522	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			18	69	1	0	1.01871e-10	0.008871	1.53572e-10	18	69				
KMT2D	8085	broad.mit.edu	37	12	49420271	49420271	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:49420271C>G	ENST00000301067.7	-	48	15477	c.15478G>C	c.(15478-15480)Gac>Cac	p.D5160H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5160					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.D5160H(1)|p.D4890H(1)									TTCACCTCGTCCCGCTCAATG	0.572																																							uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)	p.I5160M(1)	lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15478-15480)GAC>CAC		myeloid/lymphoid or mixed-lineage leukemia 2							60.0	62.0	61.0					12																	49420271		2102	4203	6305	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420271C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15478G>C	12.37:g.49420271C>G	ENSP00000301067:p.Asp5160His	HNSCC(34;0.089)					p.D5160H	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15478	-			5160					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15478G>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358404	0.41801	.	.	ENSG00000167548	ENST00000301067	D	0.83914	-1.78	4.9	4.9	0.64082	.	0.000000	0.38605	N	0.001632	D	0.90786	0.7107	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91927	0.5552	10	0.87932	D	0	.	17.2324	0.86988	0.0:1.0:0.0:0.0	.	5160	O14686	MLL2_HUMAN	H	5160	ENSP00000301067:D5160H	ENSP00000301067:D5160H	D	-	1	0	MLL2	47706538	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.447000	0.82792	0.655000	0.94253	GAC		0.572	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			18	35	0	0	0	0.007413	0	18	35				
SMARCD1	6602	broad.mit.edu	37	12	50492589	50492589	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:50492589C>G	ENST00000394963.4	+	12	1883	c.1485C>G	c.(1483-1485)ttC>ttG	p.F495L	SMARCD1_ENST00000548573.1_Missense_Mutation_p.F293L|SMARCD1_ENST00000381513.4_Missense_Mutation_p.F454L	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1									p.F456L(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GCCGATACTTCTACTCCAAGG	0.552																																							uc001rvx.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1483-1485)TTC>TTG		SWI/SNF-related matrix-associated							77.0	72.0	74.0					12																	50492589		2203	4300	6503	SO:0001583	missense	6602				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	g.chr12:50492589C>G	U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.1485C>G	12.37:g.50492589C>G	ENSP00000378414:p.Phe495Leu					SMARCD1_uc001rvy.3_Missense_Mutation_p.F454L|SMARCD1_uc009zlp.2_Missense_Mutation_p.F454L	p.F495L	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN			12	1655	+			495			Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.			Missense_Mutation	SNP	ENST00000394963.4	37	c.1485C>G	CCDS8797.2	.	.	.	.	.	.	.	.	.	.	C	5.291	0.238996	0.10023	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000542914;ENST00000548573	T;T	0.38401	1.23;1.14	5.12	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	N	0.17800	0.525	0.80722	D	1	B;B;B	0.29988	0.014;0.264;0.023	B;B;B	0.34093	0.03;0.175;0.01	T	0.04991	-1.0913	10	0.29301	T	0.29	-13.9349	9.9741	0.41772	0.0:0.7821:0.0:0.2179	.	293;454;495	F8VRQ4;Q96GM5-2;Q96GM5	.;.;SMRD1_HUMAN	L	495;454;271;293	ENSP00000378414:F495L;ENSP00000370924:F454L	ENSP00000370924:F454L	F	+	3	2	SMARCD1	48778856	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	3.237000	0.51344	0.882000	0.36016	-0.229000	0.12294	TTC		0.552	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076		4	39	0	0	0	0.009096	0	4	39				
DIP2B	57609	broad.mit.edu	37	12	51138374	51138374	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:51138374G>T	ENST00000301180.5	+	38	4517	c.4483G>T	c.(4483-4485)Gtg>Ttg	p.V1495L	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1495						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.V1495L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTTCAGTGCCGTGTTCACATG	0.463																																							uc001rwv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|pancreas(1)	6						c.(4483-4485)GTG>TTG		DIP2 disco-interacting protein 2 homolog B							197.0	159.0	172.0					12																	51138374		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51138374G>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4483G>T	12.37:g.51138374G>T	ENSP00000301180:p.Val1495Leu					DIP2B_uc009zlt.2_Missense_Mutation_p.V925L	p.V1495L	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			38	4639	+			1495					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.4483G>T	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373569	0.82573	.	.	ENSG00000066084	ENST00000301180	T	0.20738	2.05	5.65	5.65	0.86999	AMP-dependent synthetase/ligase (1);	0.057403	0.64402	D	0.000002	T	0.45175	0.1329	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10730	-1.0617	10	0.54805	T	0.06	-17.3015	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1495	Q9P265	DIP2B_HUMAN	L	1495	ENSP00000301180:V1495L	ENSP00000301180:V1495L	V	+	1	0	DIP2B	49424641	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	GTG		0.463	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		16	78	1	0	4.7546e-09	0.004007	6.8915e-09	16	78				
ANKRD33	341405	broad.mit.edu	37	12	52284753	52284753	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:52284753C>A	ENST00000340970.4	+	5	1019	c.648C>A	c.(646-648)tcC>tcA	p.S216S	ANKRD33_ENST00000301190.6_Silent_p.S341S|ANKRD33_ENST00000538991.1_Silent_p.S147S|ANKRD33_ENST00000547119.1_3'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	216					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.S341S(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GAAGCAAGTCCGTGCCAGAGC	0.657																																							uc001rzf.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(646-648)TCC>TCA		ankyrin repeat domain 33 isoform 1							44.0	31.0	35.0					12																	52284753		2203	4300	6503	SO:0001819	synonymous_variant	341405							g.chr12:52284753C>A		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.648C>A	12.37:g.52284753C>A						ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Silent_p.S341S|ANKRD33_uc001rze.2_Silent_p.S237S|ANKRD33_uc001rzg.3_Silent_p.S143S|ANKRD33_uc001rzi.3_Silent_p.S216S	p.S216S	NM_001130015	NP_001123487	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	5	1227	+			216					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Silent	SNP	ENST00000340970.4	37	c.648C>A	CCDS44892.1																																																																																				0.657	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		10	24	1	0	1.58986e-06	0.008291	2.13004e-06	10	24				
LACRT	90070	broad.mit.edu	37	12	55024687	55024687	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:55024687G>A	ENST00000257867.4	-	5	459	c.406C>T	c.(406-408)Cca>Tca	p.P136S	LACRT_ENST00000547511.1_Missense_Mutation_p.P125S	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	136					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)	p.P136S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CATGCCCATGGTTTTAATAGA	0.403																																							uc001sgi.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(406-408)CCA>TCA		lacritin precursor							164.0	134.0	144.0					12																	55024687		2203	4300	6503	SO:0001583	missense	90070				calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding	g.chr12:55024687G>A	AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.406C>T	12.37:g.55024687G>A	ENSP00000257867:p.Pro136Ser						p.P136S	NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN			5	444	-			136						Missense_Mutation	SNP	ENST00000257867.4	37	c.406C>T	CCDS8883.1	.	.	.	.	.	.	.	.	.	.	G	1.943	-0.443103	0.04604	.	.	ENSG00000135413	ENST00000547511;ENST00000257867	.	.	.	2.43	-4.75	0.03239	.	.	.	.	.	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.19679	-1.0298	8	0.87932	D	0	.	0.2172	0.00164	0.2508:0.1963:0.1649:0.3881	.	136	Q9GZZ8	LACRT_HUMAN	S	125;136	.	ENSP00000257867:P136S	P	-	1	0	LACRT	53310954	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.606000	0.00888	-1.034000	0.03295	-0.309000	0.09137	CCA		0.403	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1	NM_033277		5	35	0	0	0	0.000602	0	5	35				
OR6C1	390321	broad.mit.edu	37	12	55715183	55715183	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:55715183C>T	ENST00000379668.2	+	1	838	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S267F(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GATAGAGTGTCCTTGAGCAAG	0.428																																							uc010spi.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(799-801)TCC>TTC		olfactory receptor, family 6, subfamily C,							140.0	131.0	134.0					12																	55715183		2203	4300	6503	SO:0001583	missense	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55715183C>T	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.800C>T	12.37:g.55715183C>T	ENSP00000368990:p.Ser267Phe						p.S267F	NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN			1	800	+			267			Extracellular (Potential).		B2RNM0	Missense_Mutation	SNP	ENST00000379668.2	37	c.800C>T	CCDS31818.1	.	.	.	.	.	.	.	.	.	.	c	11.89	1.773849	0.31411	.	.	ENSG00000205330	ENST00000379668	T	0.00188	8.59	5.34	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.103668	0.43747	N	0.000534	T	0.00412	0.0013	L	0.56769	1.78	0.09310	N	1	P	0.46277	0.875	P	0.61940	0.896	T	0.47315	-0.9127	10	0.72032	D	0.01	.	12.0921	0.53733	0.0:0.9172:0.0:0.0828	.	267	Q96RD1	OR6C1_HUMAN	F	267	ENSP00000368990:S267F	ENSP00000368990:S267F	S	+	2	0	OR6C1	54001450	0.000000	0.05858	0.028000	0.17463	0.485000	0.33311	-0.027000	0.12371	1.485000	0.48380	-0.126000	0.14955	TCC		0.428	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		10	135	0	0	0	0.006214	0	10	135				
SMARCC2	6601	broad.mit.edu	37	12	56563372	56563372	+	Missense_Mutation	SNP	C	C	T	rs144543721	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:56563372C>T	ENST00000267064.4	-	24	2649	c.2563G>A	c.(2563-2565)Gag>Aag	p.E855K	SMARCC2_ENST00000347471.4_Missense_Mutation_p.E886K|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Missense_Mutation_p.E886K|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E886K	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	855	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.E855K(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGGTTGCCCTCGCCAATGtcc	0.597																																							uc001skb.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(2563-2565)GAG>AAG		SWI/SNF-related matrix-associated		C	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	143.0	112.0	123.0		2656,2563,2656	4.9	1.0	12	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SMARCC2	NM_001130420.1,NM_003075.3,NM_139067.2	56,56,56	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	886/1153,855/1215,886/1131	56563372	2,13004	2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56563372C>T	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2563G>A	12.37:g.56563372C>T	ENSP00000267064:p.Glu855Lys					SMARCC2_uc001skd.2_Missense_Mutation_p.E886K|SMARCC2_uc001ska.2_Missense_Mutation_p.E886K|SMARCC2_uc001skc.2_Missense_Mutation_p.E885K|SMARCC2_uc010sqf.1_Missense_Mutation_p.E775K	p.E855K	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		24	2669	-			855			Glu-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.2563G>A	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421143	0.83559	2.27E-4	1.16E-4	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.48836	1.17;0.8;0.82;0.82	4.92	4.92	0.64577	.	0.074237	0.49916	D	0.000122	T	0.45875	0.1364	L	0.31294	0.92	0.48830	D	0.999716	P;P;P;P;P	0.51791	0.775;0.948;0.913;0.913;0.948	P;P;P;B;P	0.50231	0.635;0.539;0.635;0.429;0.539	T	0.41662	-0.9496	10	0.48119	T	0.1	-20.3049	14.0293	0.64606	0.0:1.0:0.0:0.0	.	775;886;890;855;886	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	K	886;886;886;855	ENSP00000377591:E886K;ENSP00000449396:E886K;ENSP00000302919:E886K;ENSP00000267064:E855K	ENSP00000267064:E855K	E	-	1	0	SMARCC2	54849639	0.998000	0.40836	0.998000	0.56505	0.603000	0.37013	4.811000	0.62606	2.455000	0.83008	0.561000	0.74099	GAG		0.597	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			4	41	0	0	0	0.009096	0	4	41				
LRP1	4035	broad.mit.edu	37	12	57588394	57588394	+	Silent	SNP	C	C	T	rs368477109		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:57588394C>T	ENST00000243077.3	+	50	8569	c.8103C>T	c.(8101-8103)ttC>ttT	p.F2701F	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2701	LDL-receptor class A 15. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.F2701F(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGAATTACTTCGCCTGCCCTA	0.632													c|||	1	0.000199681	0.0	0.0	5008	,	,		18397	0.0		0.0	False		,,,				2504	0.001						uc001snd.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(8101-8103)TTC>TTT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)			0,4406		0,0,2203	63.0	63.0	63.0		8103	-1.1	1.0	12		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP1	NM_002332.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2701/4545	57588394	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57588394C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8103C>T	12.37:g.57588394C>T							p.F2701F	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	50	8569	+			2701			LDL-receptor class A 15.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.8103C>T	CCDS8932.1																																																																																				0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		13	49	0	0	0	0.001855	0	13	49				
ARHGAP9	64333	broad.mit.edu	37	12	57872492	57872492	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:57872492G>T	ENST00000356411.2	-	3	503	c.365C>A	c.(364-366)cCa>cAa	p.P122Q	ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P201Q|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P122Q|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.P193Q|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P122Q			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	122					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.P122Q(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGCCCTGCTTGGGAGGGCCTG	0.577																																							uc001sod.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(577-579)CCA>CAA		Rho GTPase activating protein 9 isoform 1							66.0	63.0	64.0					12																	57872492		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57872492G>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.365C>A	12.37:g.57872492G>T	ENSP00000348782:p.Pro122Gln					ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Missense_Mutation_p.P122Q|ARHGAP9_uc001soc.2_Missense_Mutation_p.P122Q|ARHGAP9_uc001soe.1_Missense_Mutation_p.P201Q|ARHGAP9_uc010sro.1_Missense_Mutation_p.P122Q	p.P193Q	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		6	771	-			122					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.578C>A		.	.	.	.	.	.	.	.	.	.	G	5.996	0.367633	0.11352	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000552249	T;T;T;T;T	0.42900	3.07;3.06;1.72;3.07;0.96	3.69	1.73	0.24493	.	0.996046	0.08136	N	0.992395	T	0.34542	0.0901	L	0.44542	1.39	0.09310	N	1	P;P;B;B;B	0.39964	0.697;0.531;0.255;0.372;0.41	B;B;B;B;B	0.38562	0.276;0.154;0.12;0.112;0.102	T	0.27905	-1.0060	10	0.87932	D	0	.	5.5252	0.16955	0.2821:0.0:0.7179:0.0	.	122;201;122;122;122	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	Q	122;122;122;193;171;40	ENSP00000377380:P122Q;ENSP00000348782:P122Q;ENSP00000394307:P122Q;ENSP00000377386:P193Q;ENSP00000448358:P40Q	ENSP00000344852:P171Q	P	-	2	0	ARHGAP9	56158759	0.001000	0.12720	0.065000	0.19835	0.243000	0.25628	0.358000	0.20216	0.322000	0.23283	0.655000	0.94253	CCA		0.577	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		9	95	1	0	3.86212e-05	0.008291	4.77085e-05	9	95				
CYP27B1	1594	broad.mit.edu	37	12	58158802	58158802	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:58158802A>C	ENST00000228606.4	-	4	991	c.782T>G	c.(781-783)tTt>tGt	p.F261C	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	261					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.F261C(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	ACCAAATGCAAACATCTGGTC	0.602											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001spz.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(781-783)TTT>TGT		cytochrome P450, family 27, subfamily B,	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						61.0	64.0	63.0					12																	58158802		2201	4299	6500	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58158802A>C	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.782T>G	12.37:g.58158802A>C	ENSP00000228606:p.Phe261Cys		OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	CYP27B1_uc001sqa.1_Missense_Mutation_p.F26C|CYP27B1_uc001sqb.1_Silent_p.V141V|CYP27B1_uc001sqc.1_Silent_p.V141V	p.F261C	NM_000785	NP_000776	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	934	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		261					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.782T>G	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.345646	0.82022	.	.	ENSG00000111012	ENST00000228606;ENST00000546567	T;T	0.69306	-0.39;-0.39	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.82157	0.4976	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84864	0.0821	10	0.66056	D	0.02	.	13.6154	0.62105	1.0:0.0:0.0:0.0	.	261	O15528	CP27B_HUMAN	C	261;26	ENSP00000228606:F261C;ENSP00000449472:F26C	ENSP00000228606:F261C	F	-	2	0	CYP27B1	56445069	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.540000	0.90641	2.056000	0.61249	0.459000	0.35465	TTT		0.602	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		15	114	0	0	0	0.004007	0	15	114				
ZFC3H1	196441	broad.mit.edu	37	12	72004836	72004836	+	Splice_Site	SNP	A	A	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:72004836A>C	ENST00000378743.3	-	33	6128		c.e33+1			NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing						RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACCATGGCTTACCTCTCTTTG	0.294																																							uc001swo.2		NA																	1	Unknown(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.e33+1		proline/serine-rich coiled-coil 2							155.0	155.0	155.0					12																	72004836		1796	4064	5860	SO:0001630	splice_region_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72004836A>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5769+1T>G	12.37:g.72004836A>C							p.E1923_splice	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			33	6128	-								Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Splice_Site	SNP	ENST00000378743.3	37	c.5769_splice	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.642933	0.47153	.	.	ENSG00000133858	ENST00000378743	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFC3H1	70291103	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.778000	0.75043	2.326000	0.78906	0.533000	0.62120	.		0.294	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	Intron	15	133	0	0	0	0.010504	0	15	133				
KCNC2	3747	broad.mit.edu	37	12	75434879	75434879	+	3'UTR	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:75434879A>T	ENST00000549446.1	-	0	4603				KCNC2_ENST00000350228.2_3'UTR|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000341669.3_Nonstop_Mutation_p.*630R|RP11-81K13.1_ENST00000549762.1_RNA|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000550433.1_Nonstop_Mutation_p.*630R|KCNC2_ENST00000548513.1_3'UTR|KCNC2_ENST00000298972.1_3'UTR	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2						action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	TGGTCACATCAGGGCACATTC	0.463																																							uc009zry.2		NA																	0				breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(1888-1890)TGA>AGA		Shaw-related voltage-gated potassium channel							80.0	73.0	75.0					12																	75434879		876	1991	2867	SO:0001624	3_prime_UTR_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75434879A>T	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.*2006T>A	12.37:g.75434879A>T						KCNC2_uc001sxe.2_3'UTR|KCNC2_uc001sxf.2_3'UTR	p.*630R	NM_139136	NP_631874	Q96PR1	KCNC2_HUMAN			4	1907	-			630			Cytoplasmic (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Nonstop_Mutation	SNP	ENST00000549446.1	37	c.1888T>A	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.485721	0.44147	.	.	ENSG00000166006	ENST00000550433;ENST00000341669	.	.	.	5.15	-0.0544	0.13813	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2339	0.15436	0.6353:0.1386:0.2261:0.0	.	.	.	.	R	630	.	.	X	-	1	0	KCNC2	73721146	1.000000	0.71417	0.904000	0.35570	0.994000	0.84299	2.280000	0.43443	0.007000	0.14760	0.533000	0.62120	TGA		0.463	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		8	51	0	0	0	0.00308	0	8	51				
LRRIQ1	84125	broad.mit.edu	37	12	85449828	85449828	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:85449828G>T	ENST00000393217.2	+	8	1318	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	419								p.K419N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CAAATGATAAGGGTGATATAG	0.318																																							uc001tac.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1255-1257)AAG>AAT		leucine-rich repeats and IQ motif containing 1							81.0	92.0	88.0					12																	85449828		2202	4294	6496	SO:0001583	missense	84125							g.chr12:85449828G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1257G>T	12.37:g.85449828G>T	ENSP00000376910:p.Lys419Asn					LRRIQ1_uc001tab.1_Missense_Mutation_p.K419N|LRRIQ1_uc001taa.1_Missense_Mutation_p.K394N	p.K419N	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	1368	+			419					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.1257G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397897	0.42512	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.60171	0.21	4.65	-0.545	0.11843	.	0.382752	0.25578	N	0.029711	T	0.50820	0.1638	L	0.53249	1.67	0.09310	N	1	B;D	0.56521	0.011;0.976	B;P	0.50934	0.006;0.654	T	0.43442	-0.9391	10	0.41790	T	0.15	.	2.4595	0.04538	0.3589:0.1154:0.4081:0.1176	.	419;394	Q96JM4;C9JI57	LRIQ1_HUMAN;.	N	419;394;419	ENSP00000376910:K419N	ENSP00000256007:K419N	K	+	3	2	LRRIQ1	83973959	0.000000	0.05858	0.002000	0.10522	0.057000	0.15508	-0.879000	0.04188	-0.075000	0.12798	-0.671000	0.03813	AAG		0.318	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		6	59	1	0	8.12818e-05	0.001984	9.7994e-05	6	59				
ALX1	8092	broad.mit.edu	37	12	85677633	85677633	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:85677633G>A	ENST00000316824.3	+	2	665	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	170					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E170E(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TGAGGACAGAGCTCACTGAGG	0.463																																							uc001tae.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(508-510)GAG>GAA		cartilage paired-class homeoprotein 1							82.0	88.0	86.0					12																	85677633		2203	4300	6503	SO:0001819	synonymous_variant	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85677633G>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.510G>A	12.37:g.85677633G>A							p.E170E	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	2	514	+			170			Homeobox.		Q546C8|Q96FH4	Silent	SNP	ENST00000316824.3	37	c.510G>A	CCDS9028.1																																																																																				0.463	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		28	70	0	0	0	0.007291	0	28	70				
CEP290	80184	broad.mit.edu	37	12	88483117	88483117	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:88483117T>C	ENST00000552810.1	-	31	4064	c.3721A>G	c.(3721-3723)Aaa>Gaa	p.K1241E	CEP290_ENST00000309041.7_Missense_Mutation_p.K1243E|CEP290_ENST00000547691.2_Missense_Mutation_p.K301E|CEP290_ENST00000397838.3_Missense_Mutation_p.K301E	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1241					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.K1243E(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCATCAAGTTTCTGCTCTAAG	0.438																																							uc001tar.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|pancreas(1)	7						c.(3721-3723)AAA>GAA		centrosomal protein 290kDa							122.0	114.0	117.0					12																	88483117		1880	4120	6000	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88483117T>C	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3721A>G	12.37:g.88483117T>C	ENSP00000448012:p.Lys1241Glu					CEP290_uc001taq.2_Missense_Mutation_p.K301E	p.K1241E	NM_025114	NP_079390	O15078	CE290_HUMAN			31	4065	-			1241			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.3721A>G	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118209	0.77323	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.67171	0.37;-0.25;-0.25;0.37	5.6	5.6	0.85130	.	0.163581	0.56097	D	0.000023	T	0.75042	0.3796	M	0.66939	2.045	0.35102	D	0.765299	D	0.62365	0.991	P	0.61070	0.883	T	0.75465	-0.3308	10	0.07644	T	0.81	.	15.7826	0.78272	0.0:0.0:0.0:1.0	.	1241	O15078	CE290_HUMAN	E	301;1241;1243;301	ENSP00000446905:K301E;ENSP00000448012:K1241E;ENSP00000308021:K1243E;ENSP00000380938:K301E	ENSP00000308021:K1243E	K	-	1	0	CEP290	87007248	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.292000	0.51772	2.142000	0.66516	0.477000	0.44152	AAA		0.438	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		5	61	0	0	0	0.000602	0	5	61				
C12orf74	338809	broad.mit.edu	37	12	93100630	93100630	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:93100630G>A	ENST00000397833.3	+	2	674	c.223G>A	c.(223-225)Gga>Aga	p.G75R	C12orf74_ENST00000544406.2_Missense_Mutation_p.G75R	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	75								p.G75R(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GGGAAGCTGGGGAGCTCCTGT	0.582																																							uc001tch.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(223-225)GGA>AGA		hypothetical protein LOC338809							44.0	46.0	46.0					12																	93100630		1882	4104	5986	SO:0001583	missense	338809							g.chr12:93100630G>A	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.223G>A	12.37:g.93100630G>A	ENSP00000380933:p.Gly75Arg					C12orf74_uc001tci.2_Missense_Mutation_p.G75R	p.G75R	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN			2	453	+			75					F5H4P0	Missense_Mutation	SNP	ENST00000397833.3	37	c.223G>A	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	G	0.554	-0.848234	0.02651	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.98	1.32	0.21799	.	.	.	.	.	T	0.11367	0.0277	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33292	-0.9874	8	0.08179	T	0.78	.	4.0735	0.09892	0.6164:0.1915:0.1921:0.0	.	75;75	F5H4P0;Q32Q52	.;CL074_HUMAN	R	75	.	ENSP00000380933:G75R	G	+	1	0	C12orf74	91624761	0.000000	0.05858	0.001000	0.08648	0.096000	0.18686	0.190000	0.17057	0.075000	0.16796	-0.487000	0.04747	GGA		0.582	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		19	53	0	0	0	0.008871	0	19	53				
NR2C1	7181	broad.mit.edu	37	12	95453709	95453709	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:95453709A>G	ENST00000333003.5	-	4	667	c.337T>C	c.(337-339)Tgc>Cgc	p.C113R	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.C113R|NR2C1_ENST00000330677.7_Missense_Mutation_p.C113R	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	113	Required for interaction with KAT2B. {ECO:0000250}.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.C113R(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CATACTACGCAAAGATCAAAA	0.303																																							uc001tdm.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(337-339)TGC>CGC		nuclear receptor subfamily 2, group C, member 1							66.0	65.0	66.0					12																	95453709		2203	4299	6502	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95453709A>G	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.337T>C	12.37:g.95453709A>G	ENSP00000333275:p.Cys113Arg					NR2C1_uc010suu.1_Missense_Mutation_p.C113R|NR2C1_uc001tdo.3_Missense_Mutation_p.C113R|NR2C1_uc001tdn.3_Missense_Mutation_p.C113R	p.C113R	NM_003297	NP_003288	P13056	NR2C1_HUMAN			4	593	-			113			Nuclear receptor.|Required for interaction with KAT2B (By similarity).|NR C4-type.		A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.337T>C	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097617	0.76870	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.99902	-7.66;-7.66;-7.66	5.12	5.12	0.69794	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99941	0.9974	H	0.99931	4.975	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;1.0;1.0;1.0	D	0.95900	0.8914	10	0.87932	D	0	.	15.0334	0.71725	1.0:0.0:0.0:0.0	.	113;113;113;113	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	R	113	ENSP00000333275:C113R;ENSP00000376813:C113R;ENSP00000328843:C113R	ENSP00000328843:C113R	C	-	1	0	NR2C1	93977840	1.000000	0.71417	0.998000	0.56505	0.827000	0.46813	8.065000	0.89485	2.275000	0.75901	0.528000	0.53228	TGC		0.303	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		10	52	0	0	0	0.006214	0	10	52				
PTPN11	5781	broad.mit.edu	37	12	112891116	112891116	+	Silent	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:112891116T>C	ENST00000351677.2	+	4	648	c.450T>C	c.(448-450)tcT>tcC	p.S150S	PTPN11_ENST00000392597.1_Silent_p.S150S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	150	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.S150S(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TTGTTCTTTCTGTGCGCACTG	0.433			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																														uc001ttx.2		NA		Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			JMML|AML|MDS		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						c.(448-450)TCT>TCC		protein tyrosine phosphatase, non-receptor type							126.0	123.0	124.0					12																	112891116		2203	4300	6503	SO:0001819	synonymous_variant	5781	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	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112891116T>C	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.450T>C	12.37:g.112891116T>C						PTPN11_uc001ttw.1_Silent_p.S150S	p.S150S	NM_002834	NP_002825	Q06124	PTN11_HUMAN			4	830	+			150			SH2 2.		A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	c.450T>C	CCDS9163.1																																																																																				0.433	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			21	154	0	0	0	0.002299	0	21	154				
SDSL	113675	broad.mit.edu	37	12	113875723	113875723	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:113875723G>T	ENST00000403593.4	+	8	1091	c.829G>T	c.(829-831)Ggg>Tgg	p.G277W	SDSL_ENST00000345635.4_Missense_Mutation_p.G277W			Q96GA7	SDSL_HUMAN	serine dehydratase-like	277					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						GCCTGCCTGTGGGGCAGCCTT	0.617																																							uc001tvi.2		NA																	0					0						c.(829-831)GGG>TGG		serine dehydratase-like	Pyridoxal Phosphate(DB00114)						178.0	186.0	183.0					12																	113875723		2203	4300	6503	SO:0001583	missense	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113875723G>T	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.829G>T	12.37:g.113875723G>T	ENSP00000385790:p.Gly277Trp					SDSL_uc009zwh.2_Missense_Mutation_p.G277W	p.G277W	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN			9	1039	+			277						Missense_Mutation	SNP	ENST00000403593.4	37	c.829G>T	CCDS9170.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115988	0.77323	.	.	ENSG00000139410	ENST00000403593;ENST00000345635	D;D	0.97529	-4.42;-4.42	4.12	4.12	0.48240	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	D	0.98985	0.9654	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99399	1.0927	10	0.87932	D	0	-31.8064	16.3554	0.83234	0.0:0.0:1.0:0.0	.	277	Q96GA7	SDSL_HUMAN	W	277	ENSP00000385790:G277W;ENSP00000341117:G277W	ENSP00000341117:G277W	G	+	1	0	SDSL	112360106	1.000000	0.71417	0.989000	0.46669	0.837000	0.47467	9.374000	0.97172	2.026000	0.59711	0.511000	0.50034	GGG		0.617	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		38	405	1	0	1.69901e-12	0.005524	2.63609e-12	38	405				
NCOR2	9612	broad.mit.edu	37	12	124824973	124824973	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:124824973C>G	ENST00000405201.1	-	36	5355	c.5355G>C	c.(5353-5355)ttG>ttC	p.L1785F	NCOR2_ENST00000404121.2_Missense_Mutation_p.L1346F|NCOR2_ENST00000404621.1_Missense_Mutation_p.L1775F|NCOR2_ENST00000356219.3_Missense_Mutation_p.L1792F|NCOR2_ENST00000397355.1_Missense_Mutation_p.L1776F|NCOR2_ENST00000429285.2_Missense_Mutation_p.L1775F			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1793					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.L1785F(1)|p.L1792F(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TTGGTTTTGTCAAGTGTGTTG	0.612																																							uc010tba.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(5377-5379)TTG>TTC		nuclear receptor co-repressor 2 isoform 2							70.0	77.0	75.0					12																	124824973		2044	4196	6240	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124824973C>G	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5355G>C	12.37:g.124824973C>G	ENSP00000384018:p.Leu1785Phe					NCOR2_uc010tay.1_Missense_Mutation_p.L1792F|NCOR2_uc010taz.1_Missense_Mutation_p.L1776F|NCOR2_uc010tbb.1_Missense_Mutation_p.L1785F|NCOR2_uc010tbc.1_Missense_Mutation_p.L1775F|NCOR2_uc010tax.1_5'Flank	p.L1793F	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	36	5496	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1793					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.5379G>C	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.079|5.079	0.200243|0.200243	0.09652|0.09652	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000440187;ENST00000453428|ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	.|T;T;T;T;T;T	.|0.52295	.|0.67;0.67;0.67;0.67;0.67;0.67	4.01|4.01	0.731|0.731	0.18277|0.18277	.|.	.|0.701703	.|0.13257	.|N	.|0.401591	T|T	0.48205|0.48205	0.1487|0.1487	L|L	0.34521|0.34521	1.04|1.04	0.20196|0.20196	N|N	0.999923|0.999923	.|D;D;D	.|0.67145	.|0.995;0.994;0.996	.|P;P;P	.|0.62184	.|0.844;0.795;0.899	T|T	0.27640|0.27640	-1.0068|-1.0068	5|10	.|0.66056	.|D	.|0.02	-13.2365|-13.2365	5.4888|5.4888	0.16765|0.16765	0.1401:0.6344:0.1369:0.0886|0.1401:0.6344:0.1369:0.0886	.|.	.|1775;1776;1785	.|C9J0Q5;C9J239;C9JFD3	.|.;.;.	H|F	20;115|1785;1775;1792;1776;1784;1346;1775	.|ENSP00000384018:L1785F;ENSP00000384202:L1775F;ENSP00000348551:L1792F;ENSP00000380513:L1776F;ENSP00000385618:L1346F;ENSP00000400281:L1775F	.|ENSP00000348551:L1792F	D|L	-|-	1|3	0|2	NCOR2|NCOR2	123390926|123390926	1.000000|1.000000	0.71417|0.71417	0.144000|0.144000	0.22314|0.22314	0.072000|0.072000	0.16883|0.16883	1.159000|1.159000	0.31749|0.31749	0.629000|0.629000	0.30376|0.30376	0.491000|0.491000	0.48974|0.48974	GAC|TTG		0.612	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		3	42	0	0	0	0.004672	0	3	42				
TMEM132D	121256	broad.mit.edu	37	12	129822344	129822344	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:129822344G>T	ENST00000422113.2	-	4	1460	c.1134C>A	c.(1132-1134)taC>taA	p.Y378*		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	378					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.Y378*(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCATGACCTCGTAGGAGGCGC	0.607																																							uc009zyl.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1132-1134)TAC>TAA		transmembrane protein 132D precursor							95.0	89.0	91.0					12																	129822344		2203	4300	6503	SO:0001587	stop_gained	121256					integral to membrane		g.chr12:129822344G>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1134C>A	12.37:g.129822344G>T	ENSP00000408581:p.Tyr378*						p.Y378*	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	4	1462	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	378			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Nonsense_Mutation	SNP	ENST00000422113.2	37	c.1134C>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	36	5.970008	0.97156	.	.	ENSG00000151952	ENST00000422113	.	.	.	5.31	-9.29	0.00653	.	1.283550	0.05318	N	0.526069	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.2494	10.725	0.46064	0.6209:0.0892:0.2899:0.0	.	.	.	.	X	378	.	.	Y	-	3	2	TMEM132D	128388297	0.154000	0.22792	0.007000	0.13788	0.078000	0.17371	-0.699000	0.05087	-1.715000	0.01389	-1.225000	0.01585	TAC		0.607	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		45	133	1	0	1.48734e-19	0.003214	2.48256e-19	45	133				
MPHOSPH8	54737	broad.mit.edu	37	13	20237249	20237249	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:20237249G>A	ENST00000361479.5	+	9	2070	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E668K	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	668					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)	p.E668K(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AAGCAATGGTGAGACTGCACT	0.438																																							uc001umh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2002-2004)GAG>AAG		M-phase phosphoprotein 8							143.0	146.0	145.0					13																	20237249		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20237249G>A	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.2002G>A	13.37:g.20237249G>A	ENSP00000355388:p.Glu668Lys					MPHOSPH8_uc001umg.2_Missense_Mutation_p.E668K	p.E668K	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	9	2011	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	668			ANK 3.		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.2002G>A	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828554	0.71258	.	.	ENSG00000196199	ENST00000414242;ENST00000361479	T;T	0.65364	-0.15;-0.15	5.33	5.33	0.75918	Ankyrin repeat-containing domain (3);	0.224065	0.46758	D	0.000272	T	0.71082	0.3298	L	0.31526	0.94	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.71424	-0.4597	10	0.44086	T	0.13	.	19.0094	0.92867	0.0:0.0:1.0:0.0	.	668;668	Q99549;Q99549-2	MPP8_HUMAN;.	K	668	ENSP00000414663:E668K;ENSP00000355388:E668K	ENSP00000355388:E668K	E	+	1	0	MPHOSPH8	19135249	1.000000	0.71417	0.976000	0.42696	0.083000	0.17756	9.121000	0.94375	2.479000	0.83701	0.555000	0.69702	GAG		0.438	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		31	146	0	0	0	0.004289	0	31	146				
USPL1	10208	broad.mit.edu	37	13	31232508	31232508	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:31232508G>T	ENST00000255304.4	+	9	2636	c.2294G>T	c.(2293-2295)aGc>aTc	p.S765I		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	765					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)	p.S765I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GGCTTAATAAGCAGGGGTGCT	0.378																																					Ovarian(60;318 1180 1554 28110 31601)	Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(1)	3						c.(2293-2295)AGC>ATC		ubiquitin specific peptidase like 1							97.0	105.0	102.0					13																	31232508		2202	4300	6502	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31232508G>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2294G>T	13.37:g.31232508G>T	ENSP00000255304:p.Ser765Ile					USPL1_uc001utd.2_Missense_Mutation_p.S436I|USPL1_uc001ute.1_Missense_Mutation_p.S436I	p.S765I	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	2726	+		Lung SC(185;0.0257)|Breast(139;0.203)	765					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.2294G>T	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150547	0.57151	.	.	ENSG00000132952	ENST00000255304	T	0.21191	2.02	5.76	3.77	0.43336	.	0.214405	0.49916	D	0.000134	T	0.33702	0.0872	M	0.62723	1.935	0.33365	D	0.572822	D	0.67145	0.996	D	0.64877	0.93	T	0.47787	-0.9090	10	0.87932	D	0	-16.725	3.7648	0.08619	0.1389:0.1445:0.5679:0.1487	.	765	Q5W0Q7	USPL1_HUMAN	I	765	ENSP00000255304:S765I	ENSP00000255304:S765I	S	+	2	0	USPL1	30130508	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	0.896000	0.28377	2.726000	0.93360	0.655000	0.94253	AGC		0.378	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		43	133	1	0	1.41504e-22	0.002852	2.38391e-22	43	133				
HSPH1	10808	broad.mit.edu	37	13	31724148	31724148	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:31724148T>G	ENST00000320027.5	-	8	1424	c.1080A>C	c.(1078-1080)aaA>aaC	p.K360N	HSPH1_ENST00000380405.4_Missense_Mutation_p.K360N|HSPH1_ENST00000445273.2_Missense_Mutation_p.K362N|HSPH1_ENST00000429785.2_Missense_Mutation_p.K179N|HSPH1_ENST00000380406.5_Missense_Mutation_p.K319N	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	360					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.K360N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TGCTAATATCTTTTCCAAAGA	0.408																																							uc001utj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1078-1080)AAA>AAC		heat shock 105kD							125.0	123.0	124.0					13																	31724148		2203	4300	6503	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31724148T>G	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1080A>C	13.37:g.31724148T>G	ENSP00000318687:p.Lys360Asn					HSPH1_uc001utk.2_Missense_Mutation_p.K360N|HSPH1_uc010aaw.2_Missense_Mutation_p.K319N|HSPH1_uc001utl.2_Missense_Mutation_p.K362N|HSPH1_uc010tds.1_Missense_Mutation_p.K284N|HSPH1_uc010tdt.1_RNA	p.K360N	NM_006644	NP_006635	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	8	1478	-		Lung SC(185;0.0257)	360					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.1080A>C	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.361751	0.41801	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.01505	4.82;4.82;4.82;4.82;4.82	5.68	0.643	0.17770	.	0.054658	0.64402	D	0.000001	T	0.09158	0.0226	M	0.83953	2.67	0.54753	D	0.999987	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.991;0.998;0.994;0.999	T	0.00374	-1.1780	10	0.87932	D	0	-35.0171	10.5208	0.44918	0.0:0.4063:0.0:0.5937	.	179;319;362;360;360	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	N	360;360;319;362;179;411	ENSP00000318687:K360N;ENSP00000369768:K360N;ENSP00000369769:K319N;ENSP00000396090:K362N;ENSP00000388778:K179N	ENSP00000318687:K360N	K	-	3	2	HSPH1	30622148	0.993000	0.37304	0.960000	0.40013	0.057000	0.15508	0.271000	0.18626	-0.089000	0.12484	0.482000	0.46254	AAA		0.408	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			18	80	0	0	0	0.007413	0	18	80				
NBEA	26960	broad.mit.edu	37	13	35684977	35684977	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:35684977G>T	ENST00000400445.3	+	13	2398	c.1864G>T	c.(1864-1866)Gct>Tct	p.A622S	NBEA_ENST00000379939.2_Missense_Mutation_p.A622S|NBEA_ENST00000540320.1_Missense_Mutation_p.A622S|NBEA_ENST00000310336.4_Missense_Mutation_p.A622S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	622					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.A622S(1)		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)		ATATTTGTCTGCTGAATTTAT	0.328																																							uc001uvb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(1864-1866)GCT>TCT		neurobeachin							55.0	52.0	53.0					13																	35684977		1858	4093	5951	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35684977G>T	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.1864G>T	13.37:g.35684977G>T	ENSP00000383295:p.Ala622Ser						p.A622S	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)	14	2070	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	622					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.1864G>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088305	0.36855	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	N	0.02802	-0.49	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.06625	-1.0816	10	0.21540	T	0.41	.	18.1255	0.89584	0.0:0.0:1.0:0.0	.	622	Q5T321	.	S	622	ENSP00000440951:A622S;ENSP00000383295:A622S;ENSP00000369271:A622S;ENSP00000308534:A622S	ENSP00000308534:A622S	A	+	1	0	NBEA	34582977	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.961000	0.56759	2.282000	0.76494	0.655000	0.94253	GCT		0.328	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		4	19	1	0	0.00024832	0.009096	0.000291212	4	19				
DCLK1	9201	broad.mit.edu	37	13	36401822	36401822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:36401822C>A	ENST00000360631.3	-	10	1568	c.1357G>T	c.(1357-1359)Gag>Tag	p.E453*	DCLK1_ENST00000255448.4_Nonsense_Mutation_p.E453*|DCLK1_ENST00000379893.1_Nonsense_Mutation_p.E146*			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.E453*(2)|p.E146*(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCCATCTCCTCAATCAGAAGA	0.393																																							uc001uvf.2		NA																	3	Substitution - Nonsense(3)		lung(3)	stomach(6)|ovary(2)|skin(1)	9						c.(1357-1359)GAG>TAG		doublecortin-like kinase 1							180.0	158.0	165.0					13																	36401822		2203	4300	6503	SO:0001587	stop_gained	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36401822C>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1357G>T	13.37:g.36401822C>A	ENSP00000353846:p.Glu453*					DCLK1_uc001uve.3_Nonsense_Mutation_p.E146*|DCLK1_uc010teh.1_Nonsense_Mutation_p.E146*|DCLK1_uc010abk.2_Intron	p.E453*	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	10	1590	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	453			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Nonsense_Mutation	SNP	ENST00000360631.3	37	c.1357G>T		.	.	.	.	.	.	.	.	.	.	C	42	9.206908	0.99099	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	.	.	.	X	145;453;453;146;453	.	ENSP00000255448:E453X	E	-	1	0	DCLK1	35299822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.731000	0.84895	2.779000	0.95612	0.655000	0.94253	GAG		0.393	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		13	85	1	0	0.00010058	0.001368	0.000120616	13	85				
FREM2	341640	broad.mit.edu	37	13	39263777	39263777	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:39263777A>T	ENST00000280481.7	+	1	2512	c.2296A>T	c.(2296-2298)Aac>Tac	p.N766Y		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	766					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N766Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTTGACTGACAACCCCTCAGT	0.532																																							uc001uwv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(2296-2298)AAC>TAC		FRAS1-related extracellular matrix protein 2							86.0	90.0	89.0					13																	39263777		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263777A>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2296A>T	13.37:g.39263777A>T	ENSP00000280481:p.Asn766Tyr						p.N766Y	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2605	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	766			CSPG 4.|Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2296A>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	8.697	0.908704	0.17833	.	.	ENSG00000150893	ENST00000280481	T	0.18810	2.19	5.8	-0.901	0.10540	.	0.414217	0.29185	N	0.012898	T	0.14960	0.0361	L	0.46157	1.445	0.19575	N	0.999963	B	0.29481	0.245	B	0.33392	0.163	T	0.16689	-1.0394	10	0.62326	D	0.03	.	2.2477	0.04035	0.5042:0.1193:0.2608:0.1157	.	766	Q5SZK8	FREM2_HUMAN	Y	766	ENSP00000280481:N766Y	ENSP00000280481:N766Y	N	+	1	0	FREM2	38161777	0.947000	0.32204	0.335000	0.25508	0.683000	0.39861	2.033000	0.41136	-0.113000	0.11958	0.533000	0.62120	AAC		0.532	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		3	53	0	0	0	0.009096	0	3	53				
NAA16	79612	broad.mit.edu	37	13	41933097	41933097	+	Splice_Site	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:41933097G>T	ENST00000379406.3	+	12	1733	c.1409G>T	c.(1408-1410)aGg>aTg	p.R470M	NAA16_ENST00000379367.3_Splice_Site_p.R470M	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	470					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.R470M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AAGTTCACAAGGGTAGGAAAT	0.358																																							uc001uyf.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1408-1410)AGG>ATG		NMDA receptor regulated 1-like protein isoform							96.0	96.0	96.0					13																	41933097		2203	4299	6502	SO:0001630	splice_region_variant	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41933097G>T	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1410+1G>T	13.37:g.41933097G>T						NAA16_uc010tfg.1_RNA	p.R470M	NM_024561	NP_078837	Q6N069	NAA16_HUMAN			12	1733	+			470					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	c.1409G>T	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842338	0.71488	.	.	ENSG00000172766	ENST00000379367;ENST00000379406	T;T	0.59364	0.27;0.27	4.91	4.91	0.64330	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81118	0.4756	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85851	0.1404	10	0.87932	D	0	-11.6264	18.0833	0.89449	0.0:0.0:1.0:0.0	.	470	Q6N069	NAA16_HUMAN	M	470	ENSP00000368674:R470M;ENSP00000368716:R470M	ENSP00000368674:R470M	R	+	2	0	NAA16	40831097	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	7.359000	0.79477	2.262000	0.75019	0.561000	0.74099	AGG		0.358	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527	Missense_Mutation	19	61	1	0	5.26018e-13	0.001882	8.2896e-13	19	61				
LRCH1	23143	broad.mit.edu	37	13	47279214	47279214	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:47279214A>G	ENST00000389798.3	+	12	1609	c.1412A>G	c.(1411-1413)gAt>gGt	p.D471G	LRCH1_ENST00000311191.6_Missense_Mutation_p.D471G|LRCH1_ENST00000389797.3_Missense_Mutation_p.D471G	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	471								p.D471G(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TTAAGCACAGATATTACAGAG	0.274																																							uc001vbj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1411-1413)GAT>GGT		leucine-rich repeats and calponin homology (CH)							87.0	94.0	92.0					13																	47279214		2203	4297	6500	SO:0001583	missense	23143							g.chr13:47279214A>G	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1412A>G	13.37:g.47279214A>G	ENSP00000374448:p.Asp471Gly					LRCH1_uc010acp.2_Missense_Mutation_p.D471G|LRCH1_uc001vbk.2_Missense_Mutation_p.D471G|LRCH1_uc001vbl.3_Missense_Mutation_p.D471G	p.D471G	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	12	1648	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	471					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.1412A>G	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.606044	0.66445	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.58060	0.42;0.47;0.36	5.95	5.95	0.96441	.	0.175171	0.49305	D	0.000148	T	0.65873	0.2733	M	0.72118	2.19	0.42552	D	0.993115	D;P;D;P	0.58970	0.973;0.726;0.984;0.937	P;B;P;B	0.58820	0.706;0.327;0.846;0.328	T	0.63980	-0.6514	10	0.23891	T	0.37	-22.794	13.7969	0.63177	1.0:0.0:0.0:0.0	.	471;471;471;471	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	G	471	ENSP00000308493:D471G;ENSP00000374448:D471G;ENSP00000374447:D471G	ENSP00000308493:D471G	D	+	2	0	LRCH1	46177215	1.000000	0.71417	0.667000	0.29798	0.855000	0.48748	4.001000	0.57046	2.279000	0.76181	0.533000	0.62120	GAT		0.274	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		4	83	0	0	0	0.009096	0	4	83				
PCDH17	27253	broad.mit.edu	37	13	58209170	58209170	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:58209170G>C	ENST00000377918.3	+	1	2516	c.2490G>C	c.(2488-2490)gcG>gcC	p.A830A		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	830					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A830A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGGGGCACGCGGGCTGCCACA	0.592																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2488-2490)GCG>GCC		protocadherin 17 precursor							30.0	32.0	31.0					13																	58209170		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58209170G>C	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2490G>C	13.37:g.58209170G>C						PCDH17_uc010aec.1_Silent_p.A830A	p.A830A	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	3382	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	830			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.2490G>C	CCDS31986.1																																																																																				0.592	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		5	19	0	0	0	0.000602	0	5	19				
MYCBP2	23077	broad.mit.edu	37	13	77786258	77786258	+	De_novo_Start_OutOfFrame	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:77786258T>C	ENST00000360084.5	-	0	3073				MYCBP2_ENST00000407578.2_Missense_Mutation_p.Y1032C|MYCBP2_ENST00000357337.6_Missense_Mutation_p.Y994C|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Y994C					MYC binding protein 2, E3 ubiquitin protein ligase									p.Y994C(2)|p.Y1032C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGCATTCCAATATGGCACATC	0.358																																							uc001vkf.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(2980-2982)TAT>TGT		MYC binding protein 2							94.0	91.0	92.0					13																	77786258		2203	4300	6503			23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77786258T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000360084.5:c.-4631A>G	13.37:g.77786258T>C						MYCBP2_uc010aev.2_Missense_Mutation_p.Y398C	p.Y994C	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	23	3072	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	994			RCC1 5.			Missense_Mutation	SNP	ENST00000360084.5	37	c.2981A>G		.	.	.	.	.	.	.	.	.	.	T	22.0	4.229809	0.79688	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.80566	-1.39;-1.39;-1.39	4.97	4.97	0.65823	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	D	0.000001	D	0.84451	0.5475	L	0.36672	1.1	0.58432	D	0.999999	D	0.76494	0.999	D	0.74674	0.984	D	0.85251	0.1044	10	0.49607	T	0.09	.	14.9445	0.71020	0.0:0.0:0.0:1.0	.	994	O75592	MYCB2_HUMAN	C	994;1032;994	ENSP00000349892:Y994C;ENSP00000384288:Y1032C;ENSP00000444596:Y994C	ENSP00000349892:Y994C	Y	-	2	0	MYCBP2	76684259	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.651000	0.83577	1.971000	0.57363	0.460000	0.39030	TAT		0.358	MYCBP2-202	KNOWN	basic	protein_coding	protein_coding		NM_015057		13	52	0	0	0	0.00499	0	13	52				
SCEL	8796	broad.mit.edu	37	13	78167670	78167670	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:78167670C>T	ENST00000349847.3	+	12	798	c.714C>T	c.(712-714)atC>atT	p.I238I	SCEL_ENST00000535157.1_Silent_p.I216I|SCEL_ENST00000377246.3_Intron	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	238					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.I238I(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TTGATAACATCGTCAAAGTGG	0.373																																							uc001vki.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(1)	5						c.(712-714)ATC>ATT		sciellin isoform 1							129.0	119.0	122.0					13																	78167670		2203	4300	6503	SO:0001819	synonymous_variant	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78167670C>T	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.714C>T	13.37:g.78167670C>T						SCEL_uc001vkj.2_Intron|SCEL_uc010thx.1_Silent_p.I216I	p.I238I	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	12	884	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	238					B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Silent	SNP	ENST00000349847.3	37	c.714C>T	CCDS9459.1																																																																																				0.373	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		6	64	0	0	0	0.00308	0	6	64				
TGDS	23483	broad.mit.edu	37	13	95231010	95231010	+	Silent	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:95231010T>A	ENST00000261296.5	-	8	753	c.633A>T	c.(631-633)atA>atT	p.I211I	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	211					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)	p.I211I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GTAGCAAAGATATAAATTTTG	0.269																																							uc001vlw.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(631-633)ATA>ATT		TDP-glucose 4,6-dehydratase							62.0	71.0	68.0					13																	95231010		2199	4287	6486	SO:0001819	synonymous_variant	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95231010T>A	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.633A>T	13.37:g.95231010T>A						TGDS_uc001vlx.2_RNA	p.I211I	NM_014305	NP_055120	O95455	TGDS_HUMAN			8	754	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		211					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Silent	SNP	ENST00000261296.5	37	c.633A>T	CCDS9471.1																																																																																				0.269	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		7	56	0	0	0	0.00308	0	7	56				
PCCA	5095	broad.mit.edu	37	13	100925576	100925576	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:100925576C>G	ENST00000376285.1	+	12	1079	c.1041C>G	c.(1039-1041)ttC>ttG	p.F347L	PCCA_ENST00000376286.4_Missense_Mutation_p.F321L|PCCA_ENST00000376279.3_Missense_Mutation_p.F347L	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	347	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)	p.F347L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ATTTTTATTTCTTGGAAATGA	0.413																																							uc001voo.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1039-1041)TTC>TTG		propionyl-Coenzyme A carboxylase, alpha	Biotin(DB00121)						65.0	69.0	67.0					13																	100925576		2203	4300	6503	SO:0001583	missense	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100925576C>G	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1041C>G	13.37:g.100925576C>G	ENSP00000365462:p.Phe347Leu					PCCA_uc010aga.2_Missense_Mutation_p.F321L|PCCA_uc010tiz.1_Missense_Mutation_p.F347L	p.F347L	NM_000282	NP_000273	P05165	PCCA_HUMAN			12	1079	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		347			ATP-grasp.|Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	c.1041C>G	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870650	0.72065	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.97505	-4.41;-4.41;-4.41	5.55	1.89	0.25635	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);Biotin carboxylation domain (1);	0.048172	0.85682	D	0.000000	D	0.98639	0.9544	H	0.96518	3.835	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97967	1.0341	10	0.87932	D	0	.	8.6913	0.34269	0.0:0.5665:0.0:0.4335	.	347;321;347	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	L	321;347;347	ENSP00000365463:F321L;ENSP00000365456:F347L;ENSP00000365462:F347L	ENSP00000365456:F347L	F	+	3	2	PCCA	99723577	0.990000	0.36364	0.977000	0.42913	0.977000	0.68977	0.494000	0.22467	0.398000	0.25338	0.650000	0.86243	TTC		0.413	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			8	39	0	0	0	0.004482	0	8	39				
TPP2	7174	broad.mit.edu	37	13	103290630	103290630	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:103290630C>A	ENST00000376065.4	+	15	1914	c.1878C>A	c.(1876-1878)ctC>ctA	p.L626L	TPP2_ENST00000376052.3_Silent_p.L626L	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	626					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.L626L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGGTCCGCTCTTCAGAGTTC	0.403																																							uc001vpi.3		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1876-1878)CTC>CTA		tripeptidyl peptidase II							123.0	115.0	118.0					13																	103290630		2203	4300	6503	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103290630C>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1878C>A	13.37:g.103290630C>A							p.L626L	NM_003291	NP_003282	P29144	TPP2_HUMAN			15	1981	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		626					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.1878C>A	CCDS9502.1																																																																																				0.403	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			15	95	1	0	0.00316338	0.003163	0.00348783	15	95				
BIVM	54841	broad.mit.edu	37	13	103492148	103492148	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:103492148T>A	ENST00000257336.1	+	11	2124	c.1445T>A	c.(1444-1446)aTg>aAg	p.M482K	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.D453E|BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Missense_Mutation_p.M260K	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	482						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.M482K(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGGAAAAAGATGTCTAGTATC	0.453																																							uc001vpu.1		NA								Mis|N|F						skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(1444-1446)ATG>AAG	Direct_reversal_of_damage|NER	XPG-complementing protein							165.0	154.0	157.0					13																	103492148		2203	4300	6503	SO:0001583	missense	2073	Xeroderma_Pigmentosum			negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103492148T>A	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.1445T>A	13.37:g.103492148T>A	ENSP00000257336:p.Met482Lys					BIVM_uc001vps.2_Missense_Mutation_p.M482K|BIVM_uc010agc.2_Missense_Mutation_p.M260K|BIVM_uc001vpv.2_Missense_Mutation_p.M253K	p.M482K	NM_000123	NP_000114	P28715	ERCC5_HUMAN			9	1567	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		Error:Variant_position_missing_in_P28715_after_alignment					Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	c.1445T>A	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.529404	0.44969	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000448849;ENST00000418659	.	.	.	5.4	5.4	0.78164	.	0.305927	0.30714	N	0.009027	T	0.44180	0.1281	N	0.24115	0.695	0.34184	D	0.671305	B;P;B	0.38677	0.077;0.642;0.065	B;B;B	0.40741	0.043;0.339;0.022	T	0.62661	-0.6807	9	0.87932	D	0	-4.2165	14.4237	0.67200	0.0:0.0:0.0:1.0	.	260;453;482	Q86UB2-2;Q59FZ7;Q86UB2	.;.;BIVM_HUMAN	K	482;260;453	.	ENSP00000257336:M482K	M	+	2	0	ERCC5;BIVM	102290149	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.560000	0.45896	2.034000	0.60081	0.460000	0.39030	ATG		0.453	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			20	186	0	0	0	0.010504	0	20	186				
ERCC5	2073	broad.mit.edu	37	13	103514690	103514690	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:103514690T>A	ENST00000355739.4	+	8	2614	c.1191T>A	c.(1189-1191)gaT>gaA	p.D397E	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Nonstop_Mutation_p.*823R	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	397					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.D397E(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTCTTGACGATGACGAAGATG	0.527			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														uc001vpw.2		NA	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(1189-1191)GAT>GAA	Direct_reversal_of_damage|NER	XPG-complementing protein							78.0	78.0	78.0					13																	103514690		2203	4300	6503	SO:0001583	missense	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103514690T>A	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1191T>A	13.37:g.103514690T>A	ENSP00000347978:p.Asp397Glu					ERCC5_uc001vpu.1_Missense_Mutation_p.D851E|ERCC5_uc010tjb.1_Missense_Mutation_p.D397E|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.D229E	p.D397E	NM_000123	NP_000114	P28715	ERCC5_HUMAN			8	1634	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		397					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.1191T>A	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	T	5.415	0.261648	0.10239	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.18016	2.24	4.52	-5.66	0.02451	.	0.172784	0.51477	N	0.000083	T	0.07908	0.0198	L	0.47190	1.495	0.80722	D	1	B;B;B	0.26318	0.146;0.009;0.012	B;B;B	0.21708	0.036;0.011;0.012	T	0.39603	-0.9606	10	0.09338	T	0.73	-7.717	2.1306	0.03749	0.1833:0.1941:0.4024:0.2202	.	397;397;822	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	E	822;397;229	ENSP00000347978:D397E	ENSP00000347978:D397E	D	+	3	2	ERCC5	102312691	0.000000	0.05858	0.349000	0.25694	0.310000	0.27922	-1.280000	0.02804	-1.058000	0.03197	0.533000	0.62120	GAT		0.527	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			5	55	0	0	0	0.00308	0	5	55				
MYO16	23026	broad.mit.edu	37	13	109438076	109438076	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:109438076T>A	ENST00000357550.2	+	4	576	c.535T>A	c.(535-537)Tat>Aat	p.Y179N	MYO16_ENST00000467639.1_3'UTR|MYO16_ENST00000356711.2_Missense_Mutation_p.Y179N|MYO16_ENST00000251041.5_Missense_Mutation_p.Y179N	NM_001198950.1	NP_001185879.1			myosin XVI									p.Y179N(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTGTTGACCTATCTGGATGA	0.378																																							uc001vqt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(535-537)TAT>AAT		myosin heavy chain Myr 8							82.0	76.0	78.0					13																	109438076		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109438076T>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.535T>A	13.37:g.109438076T>A	ENSP00000350160:p.Tyr179Asn					MYO16_uc010agk.1_Missense_Mutation_p.Y201N	p.Y179N	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		5	661	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		179			ANK 4.			Missense_Mutation	SNP	ENST00000357550.2	37	c.535T>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.161592	0.57368	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.53640	0.61;0.61;0.61	5.18	5.18	0.71444	Ankyrin repeat-containing domain (3);	0.000000	0.34362	U	0.004039	T	0.62588	0.2440	L	0.58428	1.81	0.80722	D	1	D;D	0.69078	0.962;0.997	P;D	0.70487	0.7;0.969	T	0.62534	-0.6834	9	.	.	.	.	13.0105	0.58729	0.0:0.0:0.0:1.0	.	179;179	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	N	179	ENSP00000349145:Y179N;ENSP00000350160:Y179N;ENSP00000251041:Y179N	.	Y	+	1	0	MYO16	108236077	1.000000	0.71417	0.998000	0.56505	0.435000	0.31806	2.500000	0.45381	1.945000	0.56424	0.533000	0.62120	TAT		0.378	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		5	54	0	0	0	0.000602	0	5	54				
MYO16	23026	broad.mit.edu	37	13	109753146	109753146	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr13:109753146G>C	ENST00000357550.2	+	27	3324	c.3283G>C	c.(3283-3285)Gct>Cct	p.A1095P	MYO16-AS2_ENST00000412809.1_RNA|MYO16_ENST00000356711.2_Missense_Mutation_p.A1095P|MYO16_ENST00000457511.2_Missense_Mutation_p.A607P	NM_001198950.1	NP_001185879.1			myosin XVI									p.A1095P(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TAAGCCACTGGCTGATACATT	0.478																																							uc001vqt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(3283-3285)GCT>CCT		myosin heavy chain Myr 8							82.0	70.0	74.0					13																	109753146		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109753146G>C		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3283G>C	13.37:g.109753146G>C	ENSP00000350160:p.Ala1095Pro					MYO16_uc010agk.1_Missense_Mutation_p.A1117P|MYO16_uc010tjh.1_Missense_Mutation_p.A607P	p.A1095P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		28	3409	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1095			Myosin head-like 2.			Missense_Mutation	SNP	ENST00000357550.2	37	c.3283G>C	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353843	0.41700	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	D;D;D	0.95554	-3.74;-3.74;-3.74	5.24	4.38	0.52667	Myosin head, motor domain (2);	0.000000	0.40385	U	0.001118	D	0.96562	0.8878	M	0.86028	2.79	0.41753	D	0.989673	D;P	0.54601	0.967;0.952	P;P	0.54856	0.549;0.762	D	0.96294	0.9216	9	.	.	.	.	10.228	0.43238	0.0918:0.0:0.9082:0.0	.	607;1095	F8W883;Q9Y6X6	.;MYO16_HUMAN	P	1095;1095;607	ENSP00000349145:A1095P;ENSP00000350160:A1095P;ENSP00000401633:A607P	.	A	+	1	0	MYO16	108551147	0.999000	0.42202	0.819000	0.32651	0.044000	0.14063	1.266000	0.33039	2.422000	0.82143	0.655000	0.94253	GCT		0.478	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		5	27	0	0	0	0.000602	0	5	27				
POTEG	404785	broad.mit.edu	37	14	19553819	19553819	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:19553819G>A	ENST00000409832.3	+	1	455	c.403G>A	c.(403-405)Gtc>Atc	p.V135I		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	135								p.V135I(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAGGTACCACGTCCGTCGAGA	0.582																																							uc001vuz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(403-405)GTC>ATC		POTE ankyrin domain family, member G							117.0	129.0	125.0					14																	19553819		1793	3721	5514	SO:0001583	missense	404785							g.chr14:19553819G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.403G>A	14.37:g.19553819G>A	ENSP00000386971:p.Val135Ile					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.V135I	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	455	+			135					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.403G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	3.035	-0.198874	0.06219	.	.	ENSG00000222036	ENST00000409832	T	0.53206	0.63	1.47	-1.35	0.09114	.	.	.	.	.	T	0.32556	0.0833	L	0.53249	1.67	0.09310	N	1	B	0.21452	0.056	B	0.14023	0.01	T	0.31586	-0.9938	9	0.09590	T	0.72	.	4.3019	0.10928	0.5263:0.0:0.4737:0.0	.	135	Q6S5H5	POTEG_HUMAN	I	135	ENSP00000386971:V135I	ENSP00000386971:V135I	V	+	1	0	POTEG	18623819	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.520000	0.02241	-0.358000	0.08162	-0.481000	0.04817	GTC		0.582	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		7	271	0	0	0	0.003163	0	7	271				
OR4K15	81127	broad.mit.edu	37	14	20444457	20444457	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:20444457C>A	ENST00000305051.5	+	1	855	c.780C>A	c.(778-780)gcC>gcA	p.A260A		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A260A(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGCGAAGGCCCGCTCCACAT	0.463																																							uc010tkx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(778-780)GCC>GCA		olfactory receptor, family 4, subfamily K,							135.0	116.0	122.0					14																	20444457		2203	4300	6503	SO:0001819	synonymous_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444457C>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.780C>A	14.37:g.20444457C>A							p.A260A	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	780	+	all_cancers(95;0.00108)		260			Helical; Name=6; (Potential).		B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	c.780C>A	CCDS32026.1																																																																																				0.463	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			6	102	1	0	8.12818e-05	0.001984	9.7994e-05	6	102				
OR11H4	390442	broad.mit.edu	37	14	20711609	20711609	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:20711609C>A	ENST00000315409.2	+	1	712	c.659C>A	c.(658-660)aCt>aAt	p.T220N		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T220N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CTCTTTTTCACTAGTATGTAC	0.453																																							uc010tld.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(658-660)ACT>AAT		olfactory receptor, family 11, subfamily H,							183.0	178.0	180.0					14																	20711609		2203	4300	6503	SO:0001583	missense	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711609C>A		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.659C>A	14.37:g.20711609C>A	ENSP00000318997:p.Thr220Asn						p.T220N	NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	659	+	all_cancers(95;0.000888)		220			Helical; Name=5; (Potential).		B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	c.659C>A	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.125957	0.37533	.	.	ENSG00000176198	ENST00000315409	T	0.38077	1.16	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.119764	0.36932	N	0.002340	T	0.41789	0.1174	L	0.45470	1.425	0.09310	N	1	B	0.24882	0.113	B	0.38985	0.287	T	0.42632	-0.9440	10	0.48119	T	0.1	-16.7415	15.5529	0.76167	0.0:1.0:0.0:0.0	.	220	Q8NGC9	O11H4_HUMAN	N	220	ENSP00000318997:T220N	ENSP00000318997:T220N	T	+	2	0	OR11H4	19781449	0.012000	0.17670	0.947000	0.38551	0.691000	0.40173	2.480000	0.45206	2.529000	0.85273	0.655000	0.94253	ACT		0.453	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			23	248	1	0	7.41877e-09	0.001882	1.06336e-08	23	248				
TEP1	7011	broad.mit.edu	37	14	20841524	20841524	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:20841524G>C	ENST00000262715.5	-	47	6759	c.6719C>G	c.(6718-6720)cCa>cGa	p.P2240R	TEP1_ENST00000545983.1_Missense_Mutation_p.P578R|TEP1_ENST00000556935.1_Missense_Mutation_p.P2132R	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2240					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)	p.P2240R(1)		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)		AGCACGGACTGGGCCGCTGTG	0.577																																							uc001vxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(6718-6720)CCA>CGA		telomerase-associated protein 1							71.0	72.0	72.0					14																	20841524		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.chr14:20841524G>C		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.6719C>G	14.37:g.20841524G>C	ENSP00000262715:p.Pro2240Arg					TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.2_Missense_Mutation_p.P1583R|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.P2132R|TEP1_uc010tlh.1_Missense_Mutation_p.P578R	p.P2240R	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)	47	6759	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2240			WD 15.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.6719C>G	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845688	0.51164	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.61510	0.1;0.1;0.1	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.260739	0.38058	N	0.001840	T	0.66277	0.2773	L	0.61036	1.89	0.29993	N	0.816723	B;D;D;D	0.59357	0.164;0.961;0.985;0.969	B;P;P;P	0.58454	0.13;0.75;0.816;0.839	T	0.61821	-0.6984	10	0.14656	T	0.56	-7.76	14.2885	0.66260	0.0:0.0:1.0:0.0	.	578;2132;1583;2240	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	R	2240;2240;2132;578	ENSP00000262715:P2240R;ENSP00000452574:P2132R;ENSP00000438849:P578R	ENSP00000262715:P2240R	P	-	2	0	TEP1	19911364	0.787000	0.28750	0.972000	0.41901	0.703000	0.40648	3.178000	0.50879	2.508000	0.84585	0.655000	0.94253	CCA		0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		4	62	0	0	0	0.009096	0	4	62				
TEP1	7011	broad.mit.edu	37	14	20841881	20841881	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:20841881G>C	ENST00000262715.5	-	45	6600	c.6560C>G	c.(6559-6561)tCa>tGa	p.S2187*	TEP1_ENST00000545983.1_Nonsense_Mutation_p.S525*|TEP1_ENST00000556935.1_Nonsense_Mutation_p.S2079*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2187					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)	p.S2187*(1)		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)		AATGGGTCCTGAGTGAGCAGG	0.597																																							uc001vxe.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(5)	5						c.(6559-6561)TCA>TGA		telomerase-associated protein 1							97.0	87.0	90.0					14																	20841881		2203	4300	6503	SO:0001587	stop_gained	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841881G>C		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.6560C>G	14.37:g.20841881G>C	ENSP00000262715:p.Ser2187*					TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.2_Nonsense_Mutation_p.S1530*|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Nonsense_Mutation_p.S2079*|TEP1_uc010tlh.1_Nonsense_Mutation_p.S525*	p.S2187*	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)	45	6600	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2187			WD 14.		A0AUV9	Nonsense_Mutation	SNP	ENST00000262715.5	37	c.6560C>G	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	43	9.984965	0.99310	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	.	.	.	4.72	4.72	0.59763	.	0.818936	0.11238	N	0.584910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-3.9195	14.7057	0.69189	0.0:0.0:1.0:0.0	.	.	.	.	X	2187;2187;2079;525	.	ENSP00000262715:S2187X	S	-	2	0	TEP1	19911721	0.979000	0.34478	1.000000	0.80357	0.997000	0.91878	2.346000	0.44027	2.459000	0.83118	0.655000	0.94253	TCA		0.597	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		3	71	0	0	0	0.009096	0	3	71				
TEP1	7011	broad.mit.edu	37	14	20843947	20843947	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:20843947G>A	ENST00000262715.5	-	43	6370	c.6330C>T	c.(6328-6330)gtC>gtT	p.V2110V	TEP1_ENST00000545983.1_Silent_p.V448V|TEP1_ENST00000556935.1_Silent_p.V2002V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2110					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)	p.V2110V(1)		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)		CACAGCCAGTGACCCAGTCAC	0.592																																							uc001vxe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(6328-6330)GTC>GTT		telomerase-associated protein 1							64.0	66.0	66.0					14																	20843947		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20843947G>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.6330C>T	14.37:g.20843947G>A						TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.2_Silent_p.V1453V|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.V2002V|TEP1_uc010tlh.1_Silent_p.V448V	p.V2110V	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)	43	6370	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2110			WD 12.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.6330C>T	CCDS9548.1																																																																																				0.592	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		5	48	0	0	0	0.00308	0	5	48				
TEP1	7011	broad.mit.edu	37	14	20864787	20864787	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:20864787T>A	ENST00000262715.5	-	10	1692	c.1652A>T	c.(1651-1653)cAg>cTg	p.Q551L	TEP1_ENST00000556935.1_Missense_Mutation_p.Q443L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	551	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				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)	p.Q551L(1)		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)		TACCGCATGCTGGAGTCTCTG	0.577																																							uc001vxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1651-1653)CAG>CTG		telomerase-associated protein 1							83.0	71.0	75.0					14																	20864787		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.chr14:20864787T>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.1652A>T	14.37:g.20864787T>A	ENSP00000262715:p.Gln551Leu					TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.Q443L	p.Q551L	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)	10	1692	-	all_cancers(95;0.00123)	all_lung(585;0.235)	551			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1652A>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.092881	0.76756	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.15139	2.45;2.45	5.59	4.46	0.54185	TROVE (2);	0.329934	0.31685	N	0.007223	T	0.28366	0.0701	L	0.57536	1.79	0.80722	D	1	P;P	0.47841	0.879;0.901	P;P	0.55260	0.662;0.772	T	0.01065	-1.1463	10	0.49607	T	0.09	-22.8671	9.0436	0.36333	0.0:0.0861:0.0:0.9139	.	443;551	G3V5X7;Q99973	.;TEP1_HUMAN	L	551;551;443	ENSP00000262715:Q551L;ENSP00000452574:Q443L	ENSP00000262715:Q551L	Q	-	2	0	TEP1	19934627	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	2.110000	0.41873	2.137000	0.66172	0.533000	0.62120	CAG		0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		5	21	0	0	0	0.000602	0	5	21				
TEP1	7011	broad.mit.edu	37	14	20876171	20876171	+	Missense_Mutation	SNP	C	C	T	rs111250999	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:20876171C>T	ENST00000262715.5	-	2	468	c.428G>A	c.(427-429)cGt>cAt	p.R143H	TEP1_ENST00000556935.1_Missense_Mutation_p.R143H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	143					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)	p.R143H(1)		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)		GTTGTTCACACGGTACAAATC	0.517													C|||	3	0.000599042	0.0	0.0	5008	,	,		23679	0.0		0.0	False		,,,				2504	0.0031						uc001vxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(427-429)CGT>CAT		telomerase-associated protein 1							149.0	144.0	146.0					14																	20876171		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.chr14:20876171C>T		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.428G>A	14.37:g.20876171C>T	ENSP00000262715:p.Arg143His					TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.R143H	p.R143H	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)	2	468	-	all_cancers(95;0.00123)	all_lung(585;0.235)	143					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.428G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.237288	0.22711	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000556549	T;T;T	0.48522	0.86;0.81;1.51	5.08	0.111	0.14619	.	0.767288	0.12606	N	0.454314	T	0.24005	0.0581	N	0.14661	0.345	0.09310	N	1	P;P	0.46327	0.876;0.803	B;B	0.35550	0.205;0.101	T	0.09997	-1.0649	10	0.51188	T	0.08	-0.0254	7.8872	0.29656	0.0:0.5678:0.0:0.4322	.	143;143	G3V5X7;Q99973	.;TEP1_HUMAN	H	143	ENSP00000262715:R143H;ENSP00000452574:R143H;ENSP00000452240:R143H	ENSP00000262715:R143H	R	-	2	0	TEP1	19946011	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.442000	0.06871	-0.077000	0.12752	-0.145000	0.13849	CGT		0.517	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		10	139	0	0	0	0.000978	0	10	139				
RNASE11	122651	broad.mit.edu	37	14	21052079	21052079	+	Silent	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:21052079T>A	ENST00000610205.1	-	3	738	c.555A>T	c.(553-555)acA>acT	p.T185T	RNASE11_ENST00000555841.1_Silent_p.T185T|RNASE11_ENST00000398009.2_Silent_p.T185T|RNASE11_ENST00000398008.2_Silent_p.T185T|RNASE11_ENST00000553849.1_Silent_p.T185T|RNASE11_ENST00000432835.2_Silent_p.T185T	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	185						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)	p.T185T(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GAGAATGACCTGTCAGCACTG	0.428																																							uc010ahv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(553-555)ACA>ACT		ribonuclease, RNase A family, 11 (non-active)							91.0	77.0	82.0					14																	21052079		2203	4300	6503	SO:0001819	synonymous_variant	122651					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21052079T>A	BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.555A>T	14.37:g.21052079T>A						RNASE11_uc010ahx.2_Silent_p.T185T|RNASE11_uc010ahw.2_Silent_p.T185T|RNASE11_uc001vxs.2_Silent_p.T185T	p.T185T	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	2	740	-	all_cancers(95;0.00238)	all_lung(585;0.235)	185						Silent	SNP	ENST00000610205.1	37	c.555A>T	CCDS9553.1																																																																																				0.428	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		7	60	0	0	0	0.00308	0	7	60				
OR6S1	341799	broad.mit.edu	37	14	21108870	21108870	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:21108870C>A	ENST00000320704.3	-	1	980	c.981G>T	c.(979-981)gaG>gaT	p.E327D		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	327						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E327D(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TTACTGCTTTCTCACTGAGAC	0.358																																							uc001vxv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(979-981)GAG>GAT		olfactory receptor, family 6, subfamily S,							95.0	98.0	97.0					14																	21108870		2203	4300	6503	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21108870C>A	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.981G>T	14.37:g.21108870C>A	ENSP00000313110:p.Glu327Asp						p.E327D	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	981	-	all_cancers(95;0.00304)		327			Cytoplasmic (Potential).		Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.981G>T	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021964	0.35701	.	.	ENSG00000181803	ENST00000320704	T	0.00001	9.88	5.7	2.58	0.30949	.	0.395490	0.21793	N	0.069029	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.08472	-1.0720	10	0.72032	D	0.01	-4.4305	4.6346	0.12518	0.0:0.57:0.1618:0.2681	.	327	Q8NH40	OR6S1_HUMAN	D	327	ENSP00000313110:E327D	ENSP00000313110:E327D	E	-	3	2	OR6S1	20178710	0.141000	0.22595	0.503000	0.27626	0.192000	0.23643	1.084000	0.30828	1.330000	0.45394	0.655000	0.94253	GAG		0.358	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			16	130	1	0	2.23348e-06	0.004007	2.96158e-06	16	130				
RNASE13	440163	broad.mit.edu	37	14	21502310	21502310	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:21502310C>A	ENST00000382951.3	-	2	275	c.138G>T	c.(136-138)aaG>aaT	p.K46N	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	46						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.K46N(1)		cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		CCCGGAAACCCTTTGGGTAGT	0.458																																							uc001vzj.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(136-138)AAG>AAT		ribonuclease, RNase A family, 13 precursor							103.0	93.0	96.0					14																	21502310		2203	4300	6503	SO:0001583	missense	440163					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21502310C>A	AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"""Ribonucleases, RNase A"""	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.138G>T	14.37:g.21502310C>A	ENSP00000372410:p.Lys46Asn					NDRG2_uc010tll.1_Intron	p.K46N	NM_001012264	NP_001012264	Q5GAN3	RNS13_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)	2	276	-	all_cancers(95;0.000759)		46						Missense_Mutation	SNP	ENST00000382951.3	37	c.138G>T	CCDS32039.1	.	.	.	.	.	.	.	.	.	.	C	8.816	0.936511	0.18206	.	.	ENSG00000206150	ENST00000382951	T	0.39787	1.06	5.12	-9.06	0.00727	Ribonuclease A, domain (2);	2.397700	0.01317	N	0.010808	T	0.18215	0.0437	N	0.24115	0.695	0.09310	N	1	B	0.33413	0.411	B	0.28553	0.091	T	0.20538	-1.0272	10	0.18276	T	0.48	0.3262	0.4366	0.00480	0.3872:0.1431:0.1911:0.2786	.	46	Q5GAN3	RNS13_HUMAN	N	46	ENSP00000372410:K46N	ENSP00000372410:K46N	K	-	3	2	RNASE13	20572150	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.003000	0.01463	-1.442000	0.01955	-0.840000	0.03056	AAG		0.458	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411744.1			18	107	1	0	1.50039e-11	0.001882	2.30417e-11	18	107				
CHD8	57680	broad.mit.edu	37	14	21897346	21897346	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:21897346T>A	ENST00000557364.1	-	3	1255	c.992A>T	c.(991-993)cAa>cTa	p.Q331L	CHD8_ENST00000555962.1_Intron|RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000430710.3_Missense_Mutation_p.Q52L|CHD8_ENST00000399982.2_Missense_Mutation_p.Q331L			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	331	Gln-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.Q331L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGGCTGCCCTTGGGCATTCTT	0.557																																							uc001was.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(154-156)CAA>CTA		chromodomain helicase DNA binding protein 8							71.0	81.0	78.0					14																	21897346		2035	4209	6244	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21897346T>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.992A>T	14.37:g.21897346T>A	ENSP00000451601:p.Gln331Leu					CHD8_uc001war.1_5'UTR	p.Q52L	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	3	249	-	all_cancers(95;0.00121)		331			Gln-rich.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.155A>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.441940	0.25900	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000553283	D;D;D	0.89552	-2.5;-2.53;-2.53	6.17	6.17	0.99709	.	0.126989	0.53938	D	0.000041	T	0.80544	0.4643	N	0.24115	0.695	0.41149	D	0.986015	P	0.36535	0.557	B	0.29785	0.107	T	0.82502	-0.0425	10	0.72032	D	0.01	-14.8133	12.1849	0.54231	0.0:0.0:0.1424:0.8576	.	52	Q9HCK8-2	.	L	52;331;51;331;82	ENSP00000406288:Q52L;ENSP00000382863:Q331L;ENSP00000451601:Q331L	ENSP00000262707:Q51L	Q	-	2	0	CHD8	20967186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.377000	0.52425	2.371000	0.80710	0.533000	0.62120	CAA		0.557	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		5	46	0	0	0	0.000602	0	5	46				
MYH7	4625	broad.mit.edu	37	14	23888489	23888489	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:23888489T>A	ENST00000355349.3	-	29	4031	c.3869A>T	c.(3868-3870)cAg>cTg	p.Q1290L	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1290					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)	p.Q1290L(1)		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)		CTCATCCAGCTGCCGGGACAG	0.597																																							uc001wjx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3868-3870)CAG>CTG		myosin, heavy chain 7, cardiac muscle, beta							89.0	84.0	86.0					14																	23888489		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.chr14:23888489T>A	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.3869A>T	14.37:g.23888489T>A	ENSP00000347507:p.Gln1290Leu					MIR208B_hsa-mir-208b|MI0005570_5'Flank	p.Q1290L	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	29	3975	-	all_cancers(95;2.54e-05)		1290			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.3869A>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.441018	0.43326	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.80123	-1.34	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	T	0.74921	0.3780	L	0.53729	1.69	0.47065	D	0.999307	B	0.06786	0.001	B	0.15052	0.012	T	0.71580	-0.4550	9	0.45353	T	0.12	.	9.3817	0.38318	0.0:0.0793:0.0:0.9207	.	1290	P12883	MYH7_HUMAN	L	1290;1295	ENSP00000347507:Q1290L	ENSP00000347507:Q1290L	Q	-	2	0	MYH7	22958329	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.900000	0.56295	2.104000	0.64026	0.533000	0.62120	CAG		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		9	51	0	0	0	0.006214	0	9	51				
CMA1	1215	broad.mit.edu	37	14	24976708	24976708	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:24976708C>G	ENST00000250378.3	-	2	92	c.63G>C	c.(61-63)gaG>gaC	p.E21D	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	21					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.E21D(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCCCGATGATCTCCCCTGGAA	0.507																																							uc001wpp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(61-63)GAG>GAC		chymase 1, mast cell preproprotein							104.0	97.0	99.0					14																	24976708		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24976708C>G		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.63G>C	14.37:g.24976708C>G	ENSP00000250378:p.Glu21Asp					CMA1_uc010alx.1_Intron	p.E21D	NM_001836	NP_001827	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	2	93	-			21					B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.63G>C	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588929	0.46110	.	.	ENSG00000092009	ENST00000250378	T	0.59364	0.27	5.01	0.877	0.19145	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.121347	0.37348	N	0.002124	T	0.42131	0.1189	L	0.42529	1.33	0.80722	D	1	B	0.25390	0.125	B	0.19666	0.026	T	0.25152	-1.0140	10	0.52906	T	0.07	.	5.0684	0.14594	0.0:0.4853:0.3308:0.1838	.	21	P23946	CMA1_HUMAN	D	21	ENSP00000250378:E21D	ENSP00000250378:E21D	E	-	3	2	CMA1	24046548	0.658000	0.27402	0.998000	0.56505	0.979000	0.70002	-0.052000	0.11865	0.386000	0.24997	0.655000	0.94253	GAG		0.507	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			4	119	0	0	0	0.009096	0	4	119				
COCH	1690	broad.mit.edu	37	14	31355160	31355160	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:31355160T>A	ENST00000396618.3	+	11	1175	c.1119T>A	c.(1117-1119)gaT>gaA	p.D373E	COCH_ENST00000460581.2_Missense_Mutation_p.D261E|COCH_ENST00000475087.1_Missense_Mutation_p.D373E|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.D373E|COCH_ENST00000382493.4_Missense_Mutation_p.D224E|RP11-829H16.3_ENST00000468444.2_RNA|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000555421.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	373	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.D373E(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TTCTAATTGATGGCTCCAGCA	0.423																																							uc001wqr.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(1117-1119)GAT>GAA		cochlin precursor							102.0	86.0	91.0					14																	31355160		2203	4300	6503	SO:0001583	missense	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31355160T>A		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1119T>A	14.37:g.31355160T>A	ENSP00000379862:p.Asp373Glu					COCH_uc001wqp.2_Missense_Mutation_p.D373E|COCH_uc001wqq.3_Missense_Mutation_p.D373E|uc001wqs.2_RNA|COCH_uc001wqt.1_Missense_Mutation_p.D224E	p.D373E	NM_004086	NP_004077	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	11	1199	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		373			VWFA 2.		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	c.1119T>A	CCDS9640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.171836|4.171836	0.78452|0.78452	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000460581;ENST00000382493|ENST00000468826	D;D;D;D;D|.	0.97906|.	-4.6;-4.6;-4.6;-4.6;-4.6|.	6.02|6.02	-3.94|-3.94	0.04130|0.04130	von Willebrand factor, type A (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77758|0.77758	0.4178|0.4178	M|M	0.85945|0.85945	2.785|2.785	0.51482|0.51482	D|D	0.999922|0.999922	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.87578|.	0.997;0.998;0.998|.	T|T	0.80146|0.80146	-0.1504|-0.1504	10|5	0.87932|.	D|.	0|.	-21.129|-21.129	15.0388|15.0388	0.71770|0.71770	0.0:0.5158:0.0:0.4842|0.0:0.5158:0.0:0.4842	.|.	224;373;373|.	E7EN67;Q96IU6;O43405|.	.;.;COCH_HUMAN|.	E|K	373;373;373;261;224|257	ENSP00000216361:D373E;ENSP00000379862:D373E;ENSP00000451528:D373E;ENSP00000451713:D261E;ENSP00000371933:D224E|.	ENSP00000216361:D373E|.	D|M	+|+	3|2	2|0	COCH|COCH	30424911|30424911	0.007000|0.007000	0.16637|0.16637	0.972000|0.972000	0.41901|0.41901	0.986000|0.986000	0.74619|0.74619	-1.106000|-1.106000	0.03319|0.03319	-0.716000|-0.716000	0.04962|0.04962	-0.263000|-0.263000	0.10527|0.10527	GAT|ATG		0.423	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		6	81	0	0	0	0.001168	0	6	81				
FNTB	2342	broad.mit.edu	37	14	65527989	65527989	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:65527989G>C	ENST00000246166.2	+	12	1507	c.1273G>C	c.(1273-1275)Gag>Cag	p.E425Q	FNTB_ENST00000447296.2_Missense_Mutation_p.E459Q|CHURC1-FNTB_ENST00000549987.1_Missense_Mutation_p.E460Q|MAX_ENST00000341653.2_Intron|FNTB_ENST00000542227.1_Missense_Mutation_p.E379Q	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	425					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)	p.E425Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGGTTTTGAGGAGCTTAAGGA	0.532																																							uc001xia.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1273-1275)GAG>CAG		farnesyltransferase, CAAX box, beta							99.0	90.0	93.0					14																	65527989		2203	4300	6503	SO:0001583	missense	2342				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity	g.chr14:65527989G>C		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.1273G>C	14.37:g.65527989G>C	ENSP00000246166:p.Glu425Gln					FNTB_uc010tsl.1_Missense_Mutation_p.E459Q|FNTB_uc010tsm.1_Missense_Mutation_p.E379Q|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Missense_Mutation_p.E181Q|FNTB_uc010tso.1_Missense_Mutation_p.E340Q	p.E425Q	NM_002028	NP_002019	P49356	FNTB_HUMAN		all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	12	1438	+			425					B2RDX6|B4E1A0	Missense_Mutation	SNP	ENST00000246166.2	37	c.1273G>C	CCDS9769.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316103	0.40996	.	.	ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000257365	ENST00000542227;ENST00000549987;ENST00000447296;ENST00000448390;ENST00000246166	.	.	.	5.76	4.86	0.63082	.	0.328118	0.33092	N	0.005294	T	0.47116	0.1428	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.23377	0.084;0.084;0.084;0.084	B;B;B;B	0.21360	0.034;0.021;0.034;0.021	T	0.35968	-0.9767	9	0.27785	T	0.31	-26.2891	13.5942	0.61979	0.0759:0.0:0.9241:0.0	.	428;379;459;425	Q86TX8;B4E1A0;B4DL54;P49356	.;.;.;FNTB_HUMAN	Q	379;460;459;181;425	.	ENSP00000246166:E425Q	E	+	1	0	FNTB;AL139022.1	64597742	.	.	0.954000	0.39281	0.319000	0.28217	.	.	1.422000	0.47177	0.561000	0.74099	GAG		0.532	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		10	56	0	0	0	0.000978	0	10	56				
GALNT16	57452	broad.mit.edu	37	14	69787507	69787507	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:69787507A>G	ENST00000337827.4	+	2	584	c.257A>G	c.(256-258)tAc>tGc	p.Y86C	GALNT16_ENST00000553669.1_Missense_Mutation_p.Y86C|GALNT16_ENST00000448469.3_Missense_Mutation_p.Y86C	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	86					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.Y86C(1)									GAGGACCCCTACAGACAGCAC	0.587																																							uc010aqu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(256-258)TAC>TGC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							89.0	82.0	85.0					14																	69787507		2203	4300	6503	SO:0001583	missense	57452					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr14:69787507A>G	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.257A>G	14.37:g.69787507A>G	ENSP00000336729:p.Tyr86Cys					GALNTL1_uc001xla.1_Missense_Mutation_p.Y86C|GALNTL1_uc001xlb.1_Missense_Mutation_p.Y86C	p.Y86C	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN		all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)	2	350	+			86			Lumenal (Potential).		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.257A>G	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.679138	0.88542	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.58797	0.44;0.44;0.31	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.79528	0.4461	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.83547	0.0099	10	0.87932	D	0	.	15.8156	0.78597	1.0:0.0:0.0:0.0	.	86;86	Q8N428;Q58A55	GLTL1_HUMAN;.	C	86	ENSP00000336729:Y86C;ENSP00000402970:Y86C;ENSP00000451200:Y86C	ENSP00000336729:Y86C	Y	+	2	0	GALNTL1	68857260	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.962000	0.93254	2.149000	0.67028	0.528000	0.53228	TAC		0.587	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		5	62	0	0	0	0.000602	0	5	62				
AREL1	9870	broad.mit.edu	37	14	75142581	75142581	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:75142581G>C	ENST00000356357.4	-	8	1416	c.901C>G	c.(901-903)Ctt>Gtt	p.L301V	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	301					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L301V(1)									GCATTATAAAGATAAGCCTCA	0.468																																							uc001xqb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(901-903)CTT>GTT		hypothetical protein LOC9870							141.0	148.0	146.0					14																	75142581		2050	4203	6253	SO:0001583	missense	9870				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity	g.chr14:75142581G>C	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.901C>G	14.37:g.75142581G>C	ENSP00000348714:p.Leu301Val					KIAA0317_uc010tut.1_Missense_Mutation_p.L140V|KIAA0317_uc001xqc.2_Missense_Mutation_p.L301V	p.L301V	NM_001039479	NP_001034568	O15033	K0317_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00404)	8	1406	-			301					B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.901C>G	CCDS41971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.8|29.8	5.039310|5.039310	0.93630|0.93630	.|.	.|.	ENSG00000119682|ENSG00000119682	ENST00000490805|ENST00000356357;ENST00000543377;ENST00000556202	.|T;T	.|0.49432	.|0.78;0.78	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68320|0.68320	0.2988|0.2988	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.996;0.989	.|D;D	.|0.72625	.|0.978;0.931	T|T	0.67389|0.67389	-0.5683|-0.5683	5|10	.|0.59425	.|D	.|0.04	.|.	20.2147|20.2147	0.98293|0.98293	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|301;301	.|O15033-2;O15033	.|.;K0317_HUMAN	M|V	48|301;140;140	.|ENSP00000348714:L301V;ENSP00000452101:L140V	.|ENSP00000348714:L301V	I|L	-|-	3|1	3|0	KIAA0317|KIAA0317	74212334|74212334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.747000|7.747000	0.85070|0.85070	2.785000|2.785000	0.95823|0.95823	0.591000|0.591000	0.81541|0.81541	ATC|CTT		0.468	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		17	174	0	0	0	0.00499	0	17	174				
C14orf1	11161	broad.mit.edu	37	14	76121288	76121288	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:76121288G>A	ENST00000256319.6	-	3	610	c.165C>T	c.(163-165)atC>atT	p.I55I	FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron	NM_007176.3	NP_009107.1	Q9UKR5	ERG28_HUMAN	chromosome 14 open reading frame 1	55					sterol biosynthetic process (GO:0016126)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.I55I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6		all_epithelial(191;0.125)|all_neural(303;0.13)|Myeloproliferative disorder(585;0.163)		BRCA - Breast invasive adenocarcinoma(234;0.00147)		GCAGCGTCCAGATCCCAAAGG	0.478											OREG0022817	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001xrt.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(163-165)ATC>ATT		ergosterol biosynthetic protein 28							242.0	218.0	226.0					14																	76121288		2203	4300	6503	SO:0001819	synonymous_variant	11161				sterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|transport vesicle		g.chr14:76121288G>A	AF134159	CCDS9845.1	14q24.3	2012-08-16			ENSG00000133935	ENSG00000133935			1187	protein-coding gene	gene with protein product		604576				10449901, 12958361, 11160377	Standard	NM_007176		Approved	NET51, ERG28	uc001xrt.3	Q9UKR5	OTTHUMG00000171488	ENST00000256319.6:c.165C>T	14.37:g.76121288G>A			OREG0022817	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1165	C14orf1_uc001xru.2_RNA	p.I55I	NM_007176	NP_009107	Q9UKR5	ERG28_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	3	611	-		all_epithelial(191;0.125)|all_neural(303;0.13)|Myeloproliferative disorder(585;0.163)	55			Helical; (Potential).		Q9P093|Q9UPI2	Silent	SNP	ENST00000256319.6	37	c.165C>T	CCDS9845.1																																																																																				0.478	C14orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413683.1	NM_007176		45	179	0	0	0	0.003214	0	45	179				
TTLL5	23093	broad.mit.edu	37	14	76349199	76349199	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:76349199A>T	ENST00000298832.9	+	30	3899	c.3694A>T	c.(3694-3696)Aac>Tac	p.N1232Y	TTLL5_ENST00000556893.1_Missense_Mutation_p.N783Y|TTLL5_ENST00000554510.1_Missense_Mutation_p.N741Y|TTLL5_ENST00000557636.1_Missense_Mutation_p.N1247Y	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1232					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.N1232Y(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACCCCCACCCAACCACGAACA	0.478																																							uc001xrx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3694-3696)AAC>TAC		tubulin tyrosine ligase-like family, member 5							118.0	130.0	126.0					14																	76349199		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76349199A>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3694A>T	14.37:g.76349199A>T	ENSP00000298832:p.Asn1232Tyr					TTLL5_uc010ask.1_Missense_Mutation_p.N1247Y|TTLL5_uc001xrz.2_Missense_Mutation_p.N807Y|TTLL5_uc001xsa.2_Missense_Mutation_p.N306Y	p.N1232Y	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	30	3899	+			1232					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.3694A>T	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.962804	0.74016	.	.	ENSG00000119685	ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.30182	3.69;3.76;1.54;1.54	5.9	5.9	0.94986	.	0.510211	0.18912	N	0.127738	T	0.39963	0.1098	N	0.24115	0.695	0.34528	D	0.708931	P;D;D;P	0.60575	0.912;0.988;0.988;0.857	P;P;P;P	0.61201	0.76;0.885;0.81;0.451	T	0.54397	-0.8300	10	0.87932	D	0	.	14.9028	0.70692	1.0:0.0:0.0:0.0	.	1247;306;783;1232	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	Y	306;1247;1232;783;783;741	ENSP00000450713:N1247Y;ENSP00000298832:N1232Y;ENSP00000452524:N783Y;ENSP00000451946:N741Y	ENSP00000286653:N306Y	N	+	1	0	TTLL5	75418952	1.000000	0.71417	0.941000	0.38009	0.896000	0.52359	5.549000	0.67261	2.264000	0.75181	0.533000	0.62120	AAC		0.478	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		6	52	0	0	0	0.001168	0	6	52				
ZC3H14	79882	broad.mit.edu	37	14	89069242	89069242	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:89069242C>T	ENST00000251038.5	+	12	1810	c.1585C>T	c.(1585-1587)Cca>Tca	p.P529S	ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000555900.1_Missense_Mutation_p.P231S|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000555755.1_Missense_Mutation_p.P529S|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000393514.5_Missense_Mutation_p.P504S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	529						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P529S(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CCCCAGCCCCCCAGGATACAT	0.468																																							uc001xww.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1585-1587)CCA>TCA		zinc finger CCCH-type containing 14 isoform 1							96.0	82.0	87.0					14																	89069242		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89069242C>T	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1585C>T	14.37:g.89069242C>T	ENSP00000251038:p.Pro529Ser					ZC3H14_uc010twd.1_Missense_Mutation_p.P529S|ZC3H14_uc010twe.1_Missense_Mutation_p.P529S|ZC3H14_uc001xwx.2_Intron|ZC3H14_uc010twf.1_Intron|ZC3H14_uc001xwy.2_Intron|ZC3H14_uc010twg.1_Intron|ZC3H14_uc001xxa.2_Missense_Mutation_p.P74S|ZC3H14_uc001xxc.2_Intron|ZC3H14_uc001xxb.2_Intron	p.P529S	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN			12	1810	+			529					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.1585C>T	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436098	0.83885	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000555755;ENST00000393514;ENST00000555900;ENST00000557737	.	.	.	5.97	5.97	0.96955	.	0.062008	0.64402	D	0.000002	T	0.74921	0.3780	M	0.64997	1.995	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.68943	0.961;0.943;0.943	T	0.66380	-0.5938	9	0.07813	T	0.8	-11.4253	20.4388	0.99107	0.0:1.0:0.0:0.0	.	529;529;529	G3V5R4;Q6PJT7-2;Q6PJT7	.;.;ZC3HE_HUMAN	S	529;504;529;529;504;231;206	.	ENSP00000251038:P529S	P	+	1	0	ZC3H14	88138995	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.393000	0.66279	2.836000	0.97738	0.655000	0.94253	CCA		0.468	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		7	28	0	0	0	0.001984	0	7	28				
KCNK13	56659	broad.mit.edu	37	14	90651285	90651285	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:90651285G>T	ENST00000282146.4	+	2	1606	c.1165G>T	c.(1165-1167)Ggg>Tgg	p.G389W		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	389			G -> A (in dbSNP:rs35909577).		synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G389W(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGAATTCTCAGGGGGGGTGGG	0.587																																							uc001xye.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1165-1167)GGG>TGG		potassium channel, subfamily K, member 13							17.0	19.0	18.0					14																	90651285		2202	4293	6495	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90651285G>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.1165G>T	14.37:g.90651285G>T	ENSP00000282146:p.Gly389Trp						p.G389W	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	1607	+		all_cancers(154;0.186)	389			Cytoplasmic (Potential).		B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.1165G>T	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907343	0.52333	.	.	ENSG00000152315	ENST00000282146	T	0.53640	0.61	5.12	5.12	0.69794	.	0.000000	0.42172	D	0.000751	T	0.72534	0.3472	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77216	-0.2669	10	0.87932	D	0	.	18.9098	0.92479	0.0:0.0:1.0:0.0	.	389	Q9HB14	KCNKD_HUMAN	W	389	ENSP00000282146:G389W	ENSP00000282146:G389W	G	+	1	0	KCNK13	89721038	1.000000	0.71417	0.999000	0.59377	0.009000	0.06853	7.911000	0.87458	2.536000	0.85505	0.655000	0.94253	GGG		0.587	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		10	16	1	0	7.48243e-07	0.006214	1.00996e-06	10	16				
TC2N	123036	broad.mit.edu	37	14	92251584	92251584	+	Missense_Mutation	SNP	T	T	C	rs370720040		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:92251584T>C	ENST00000435962.2	-	11	1607	c.1284A>G	c.(1282-1284)atA>atG	p.I428M	TC2N_ENST00000340892.5_Missense_Mutation_p.I428M|TC2N_ENST00000360594.5_Missense_Mutation_p.I428M|TC2N_ENST00000556018.1_Missense_Mutation_p.I364M	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	428	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)		p.I364M(1)|p.I428M(1)		breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTTCACTCTGTATAAGTGGAA	0.383																																							uc001xzu.3		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(1282-1284)ATA>ATG		tandem C2 domains, nuclear							165.0	179.0	174.0					14																	92251584		2203	4300	6503	SO:0001583	missense	123036					nucleus		g.chr14:92251584T>C	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1284A>G	14.37:g.92251584T>C	ENSP00000387882:p.Ile428Met					TC2N_uc001xzt.3_Missense_Mutation_p.I428M|TC2N_uc010auc.2_Missense_Mutation_p.I364M|TC2N_uc001xzv.3_Missense_Mutation_p.I428M	p.I428M	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	11	1475	-			428			C2.			Missense_Mutation	SNP	ENST00000435962.2	37	c.1284A>G	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	T	10.55	1.380422	0.24944	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018;ENST00000556590	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.62	2.99	0.34606	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.545839	0.20593	N	0.089314	T	0.47525	0.1450	N	0.08118	0	0.09310	N	0.999998	B;B	0.31026	0.202;0.304	B;B	0.31016	0.075;0.123	T	0.42241	-0.9463	10	0.72032	D	0.01	-3.5111	6.8748	0.24141	0.0:0.1006:0.3486:0.5508	.	364;428	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	M	428;428;428;364;180	ENSP00000387882:I428M;ENSP00000343199:I428M;ENSP00000353802:I428M;ENSP00000451317:I364M;ENSP00000450922:I180M	ENSP00000343199:I428M	I	-	3	3	TC2N	91321337	0.313000	0.24554	0.640000	0.29408	0.788000	0.44548	0.419000	0.21247	0.297000	0.22615	0.533000	0.62120	ATA		0.383	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332		39	178	0	0	0	0.002522	0	39	178				
SERPINA1	5265	broad.mit.edu	37	14	94849012	94849012	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:94849012C>T	ENST00000448921.1	-	4	1135	c.563G>A	c.(562-564)gGt>gAt	p.G188D	SERPINA1_ENST00000355814.4_Missense_Mutation_p.G188D|SERPINA1_ENST00000404814.4_Missense_Mutation_p.G188D|SERPINA1_ENST00000393087.4_Missense_Mutation_p.G188D|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000449399.3_Missense_Mutation_p.G188D|SERPINA1_ENST00000440909.1_Missense_Mutation_p.G188D|SERPINA1_ENST00000393088.4_Missense_Mutation_p.G188D|SERPINA1_ENST00000402629.1_Missense_Mutation_p.G188D|SERPINA1_ENST00000437397.1_Missense_Mutation_p.G188D	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	188					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G188D(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CCCTTGAGTACCCTTCTCCAC	0.438																																							uc001ycx.3		NA																	2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	skin(1)	1						c.(562-564)GGT>GAT		serine proteinase inhibitor, clade A, member 1	Alpha-1-proteinase inhibitor(DB00058)						141.0	142.0	142.0					14																	94849012		2203	4300	6503	SO:0001583	missense	5265	Alpha-1-Antitrypsin_Deficiency			acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94849012C>T	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.563G>A	14.37:g.94849012C>T	ENSP00000416066:p.Gly188Asp					SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.G188D|SERPINA1_uc010aux.2_Missense_Mutation_p.G188D|SERPINA1_uc001ycy.3_Missense_Mutation_p.G188D|SERPINA1_uc010auy.2_Missense_Mutation_p.G188D|SERPINA1_uc001ycz.3_Missense_Mutation_p.G188D|SERPINA1_uc010auz.2_Missense_Mutation_p.G188D|SERPINA1_uc010ava.2_Missense_Mutation_p.G188D|SERPINA1_uc001ydb.3_Missense_Mutation_p.G188D|SERPINA1_uc010avb.2_Missense_Mutation_p.G188D|SERPINA1_uc001ydc.3_Missense_Mutation_p.G188D|SERPINA1_uc001yda.1_Missense_Mutation_p.G188D	p.G188D	NM_000295	NP_000286	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	824	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	188					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	c.563G>A	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513578	0.27123	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629;ENST00000554720	D;D;D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.79	-2.39	0.06602	Serpin domain (3);	0.923603	0.09261	N	0.826514	T	0.80412	0.4618	M	0.83012	2.62	0.09310	N	0.999999	B;B	0.23806	0.091;0.039	B;B	0.28638	0.092;0.062	T	0.71474	-0.4582	10	0.66056	D	0.02	.	2.5414	0.04727	0.1394:0.1856:0.1379:0.5371	.	188;188	P01009-2;P01009	.;A1AT_HUMAN	D	188;188;188;188;188;188;188;188;188;102	ENSP00000390299:G188D;ENSP00000416066:G188D;ENSP00000408474:G188D;ENSP00000348068:G188D;ENSP00000376802:G188D;ENSP00000376803:G188D;ENSP00000385960:G188D;ENSP00000416354:G188D;ENSP00000386094:G188D;ENSP00000450561:G102D	ENSP00000348068:G188D	G	-	2	0	SERPINA1	93918765	0.009000	0.17119	0.298000	0.25002	0.160000	0.22226	1.135000	0.31454	-0.096000	0.12329	-0.219000	0.12488	GGT		0.438	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		17	123	0	0	0	0.007413	0	17	123				
SERPINA12	145264	broad.mit.edu	37	14	94964298	94964298	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:94964298G>A	ENST00000341228.2	-	3	1232	c.437C>T	c.(436-438)cCa>cTa	p.P146L	SERPINA12_ENST00000556881.1_Missense_Mutation_p.P146L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	146					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P146L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CTTACGCTGTGGCTGCAGCCT	0.478																																							uc001ydj.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(436-438)CCA>CTA		serine (or cysteine) proteinase inhibitor, clade							124.0	121.0	122.0					14																	94964298		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94964298G>A	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.437C>T	14.37:g.94964298G>A	ENSP00000342109:p.Pro146Leu						p.P146L	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	3	1233	-			146						Missense_Mutation	SNP	ENST00000341228.2	37	c.437C>T	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	G	0.398	-0.919685	0.02396	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	T;T	0.81247	-1.47;-1.47	5.37	2.5	0.30297	Serpin domain (3);	0.320095	0.27088	N	0.020996	T	0.62380	0.2423	N	0.25031	0.7	0.09310	N	0.999997	B	0.19935	0.04	B	0.23716	0.048	T	0.45026	-0.9289	10	0.02654	T	1	.	9.2516	0.37557	0.2844:0.0:0.7156:0.0	.	146	Q8IW75	SPA12_HUMAN	L	146	ENSP00000451738:P146L;ENSP00000342109:P146L	ENSP00000342109:P146L	P	-	2	0	SERPINA12	94034051	0.022000	0.18835	0.004000	0.12327	0.021000	0.10359	0.885000	0.28227	0.639000	0.30564	0.563000	0.77884	CCA		0.478	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		21	112	0	0	0	0.010504	0	21	112				
TCL6	27004	broad.mit.edu	37	14	96137667	96137667	+	RNA	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr14:96137667G>A	ENST00000467865.1	+	0	2024				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)									p.?(1)		large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		caccctgctagaaaggacgtg	0.498			T	TRA@	T-ALL																																		uc001yeq.2		NA		Dom	yes		14	14q32.1	27004	T	T-cell leukemia/lymphoma 6			L	TRA@		T-ALL		1	Unknown(1)		lung(1)		0						c.e7-1		SubName: Full=T-cell leukemia/lymphoma 6 ORF163;							49.0	46.0	47.0					14																	96137667		2203	4300	6503			27004							g.chr14:96137667G>A	AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96137667G>A						TCL6_uc001yep.1_Intron|TCL6_uc001yes.2_Splice_Site|TCL6_uc001yet.1_Splice_Site_p.E74_splice|TCL6_uc001yeu.2_Splice_Site|TCL6_uc001yev.2_Splice_Site|TCL1B_uc001yew.2_Splice_Site|TCL1B_uc001yex.2_Splice_Site|TCL1B_uc010avj.2_Splice_Site|TCL6_uc010avk.1_Splice_Site	p.E132_splice	NM_020554	NP_065579				Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)	7	1864	+		all_cancers(154;0.103)							Splice_Site	SNP	ENST00000467865.1	37	c.395_splice																																																																																					0.498	TCL6-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000315133.1	NM_012468		3	28	0	0	0	0.004672	0	3	28				
CYFIP1	23191	broad.mit.edu	37	15	22935909	22935909	+	Missense_Mutation	SNP	A	A	G	rs376633086		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:22935909A>G	ENST00000313077.7	+	9	970	c.845A>G	c.(844-846)tAt>tGt	p.Y282C	CYFIP1_ENST00000560848.1_Missense_Mutation_p.Y282C	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.Y282C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGTAACATCTATAAGTTGGAT	0.368																																							uc001yus.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(844-846)TAT>TGT		cytoplasmic FMR1 interacting protein 1 isoform		A	CYS/TYR	0,4406		0,0,2203	202.0	178.0	186.0		845	5.6	1.0	15		186	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYFIP1	NM_014608.2	194	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	282/1254	22935909	1,13005	2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22935909A>G	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.845A>G	15.37:g.22935909A>G	ENSP00000324549:p.Tyr282Cys					CYFIP1_uc001yut.2_Missense_Mutation_p.Y282C|CYFIP1_uc010aya.1_Missense_Mutation_p.Y310C	p.Y282C	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	9	949	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	282						Missense_Mutation	SNP	ENST00000313077.7	37	c.845A>G	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087975	0.76642	0.0	1.16E-4	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.43688	0.94	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000003	T	0.57592	0.2064	L	0.45581	1.43	0.80722	D	1	D;P	0.76494	0.999;0.928	D;P	0.79784	0.993;0.447	T	0.55244	-0.8171	10	0.39692	T	0.17	-9.3206	15.7181	0.77685	1.0:0.0:0.0:0.0	.	310;282	E7EQ04;Q7L576	.;CYFP1_HUMAN	C	282;310	ENSP00000324549:Y282C	ENSP00000324549:Y282C	Y	+	2	0	CYFIP1	20487350	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.068000	0.93961	2.116000	0.64780	0.454000	0.30748	TAT		0.368	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		11	72	0	0	0	0.00245	0	11	72				
NIPA1	123606	broad.mit.edu	37	15	23052736	23052736	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:23052736G>A	ENST00000337435.4	-	4	361	c.337C>T	c.(337-339)Ctc>Ttc	p.L113F	NIPA1_ENST00000561183.1_Missense_Mutation_p.L38F|NIPA1_ENST00000538684.1_5'UTR|NIPA1_ENST00000437912.2_Missense_Mutation_p.L38F	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	113					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)	p.L113F(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TCCTTCAGGAGATAGGAAGCT	0.413																																							uc001yvc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(337-339)CTC>TTC		non-imprinted in Prader-Willi/Angelman syndrome							98.0	95.0	96.0					15																	23052736		2203	4300	6503	SO:0001583	missense	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23052736G>A	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.337C>T	15.37:g.23052736G>A	ENSP00000337452:p.Leu113Phe					NIPA1_uc001yvd.2_5'UTR|NIPA1_uc001yve.2_Missense_Mutation_p.L38F	p.L113F	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	4	362	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	113			Cytoplasmic (Potential).		B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	ENST00000337435.4	37	c.337C>T	CCDS10011.1	.	.	.	.	.	.	.	.	.	.	G	2.352	-0.348668	0.05208	.	.	ENSG00000170113	ENST00000337435;ENST00000437912	D;D	0.90069	-2.61;-2.61	4.69	4.69	0.59074	.	0.212341	0.36972	N	0.002315	D	0.82342	0.5016	N	0.03154	-0.405	0.80722	D	1	D	0.67145	0.996	D	0.67382	0.951	T	0.78513	-0.2175	10	0.02654	T	1	-2.954	11.0148	0.47682	0.1352:0.0:0.8648:0.0	.	113	Q7RTP0	NIPA1_HUMAN	F	113;38	ENSP00000337452:L113F;ENSP00000393962:L38F	ENSP00000337452:L113F	L	-	1	0	NIPA1	20604177	0.994000	0.37717	0.994000	0.49952	0.918000	0.54935	2.156000	0.42310	2.453000	0.82957	0.555000	0.69702	CTC		0.413	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		6	76	0	0	0	0.001168	0	6	76				
PLA2G4B	100137049	broad.mit.edu	37	15	42139582	42139582	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:42139582C>A	ENST00000452633.1	+	20	2347	c.1995C>A	c.(1993-1995)ttC>ttA	p.F665L	PLA2G4B_ENST00000542534.2_Missense_Mutation_p.F896L|JMJD7-PLA2G4B_ENST00000342159.4_Intron|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.F896L|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.F665L			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	665	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)	p.F896L(1)					all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GGATCCCGTTCCCACCCATCT	0.682																																							uc010bco.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1993-1995)TTC>TTA		phospholipase A2, group IVB							76.0	81.0	79.0					15																	42139582		2203	4300	6503	SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42139582C>A	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1995C>A	15.37:g.42139582C>A	ENSP00000396045:p.Phe665Leu					JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.F896L|JMJD7-PLA2G4B_uc010bcn.2_Intron|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.F366L	p.F665L	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN			19	2096	+			665			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.1995C>A	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	14.38	2.517705	0.44763	.	.	ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000458483;ENST00000452633	T;T;T	0.17528	2.27;2.27;2.27	4.97	2.07	0.26955	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.067039	0.64402	D	0.000015	T	0.36110	0.0955	.	.	.	0.38438	D	0.946636	D;D	0.71674	0.997;0.998	D;D	0.76071	0.938;0.987	T	0.14282	-1.0478	9	0.87932	D	0	-32.4262	7.5065	0.27547	0.0:0.6492:0.0:0.3508	.	665;896	P0C869;P0C869-6	PA24B_HUMAN;.	L	896;665;665	ENSP00000371886:F896L;ENSP00000416610:F665L;ENSP00000396045:F665L	ENSP00000371886:F896L	F	+	3	2	JMJD7-PLA2G4B;PLA2G4B	39926874	1.000000	0.71417	0.421000	0.26609	0.249000	0.25844	1.621000	0.36986	0.242000	0.21303	-1.036000	0.02392	TTC		0.682	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		10	104	1	0	2.17888e-05	0.006214	2.74029e-05	10	104				
TRPM7	54822	broad.mit.edu	37	15	50916388	50916388	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:50916388G>A	ENST00000313478.7	-	12	1696	c.1415C>T	c.(1414-1416)cCg>cTg	p.P472L	TRPM7_ENST00000560955.1_Missense_Mutation_p.P472L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	472					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.P472L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTCCAGTCTCGGAATGGTAAG	0.323																																							uc001zyt.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(1414-1416)CCG>CTG		transient receptor potential cation channel,							111.0	106.0	108.0					15																	50916388		1841	4073	5914	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50916388G>A	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1415C>T	15.37:g.50916388G>A	ENSP00000320239:p.Pro472Leu					TRPM7_uc010bew.1_Missense_Mutation_p.P472L|TRPM7_uc001zyu.2_Missense_Mutation_p.P30L	p.P472L	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	12	1679	-			472			Cytoplasmic (Potential).		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.1415C>T	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607526	0.46527	.	.	ENSG00000092439	ENST00000313478	T	0.27890	1.64	4.54	4.54	0.55810	.	0.368160	0.31709	N	0.007190	T	0.26738	0.0654	L	0.52905	1.665	0.47994	D	0.999569	P	0.44659	0.84	B	0.28385	0.089	T	0.37103	-0.9720	10	0.87932	D	0	-7.5173	17.4703	0.87645	0.0:0.0:1.0:0.0	.	472	Q96QT4	TRPM7_HUMAN	L	472	ENSP00000320239:P472L	ENSP00000320239:P472L	P	-	2	0	TRPM7	48703680	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	3.563000	0.53784	2.326000	0.78906	0.650000	0.86243	CCG		0.323	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		4	46	0	0	0	0.009096	0	4	46				
ANXA2	302	broad.mit.edu	37	15	60649389	60649389	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:60649389C>A	ENST00000396024.3	-	7	563	c.404G>T	c.(403-405)aGa>aTa	p.R135I	ANXA2_ENST00000421017.2_Missense_Mutation_p.R135I|ANXA2_ENST00000332680.4_Missense_Mutation_p.R153I|ANXA2_ENST00000451270.2_Missense_Mutation_p.R135I	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	135					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.R153I(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	CTGGTTGGTTCTGGAGCAGAT	0.488																																							uc002agn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(403-405)AGA>ATA		annexin A2 isoform 2	Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)						132.0	110.0	117.0					15																	60649389		2203	4299	6502	SO:0001583	missense	302				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity	g.chr15:60649389C>A	D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"""Annexins"""	537	protein-coding gene	gene with protein product	"""annexin II"""	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.404G>T	15.37:g.60649389C>A	ENSP00000379342:p.Arg135Ile					ANXA2_uc002agk.2_Missense_Mutation_p.R135I|ANXA2_uc002agl.2_Missense_Mutation_p.R135I|ANXA2_uc002agm.2_Missense_Mutation_p.R153I|ANXA2_uc010uhd.1_RNA|ANXA2_uc010bgj.2_Missense_Mutation_p.R135I	p.R135I	NM_001136015	NP_001129487	P07355	ANXA2_HUMAN			7	564	-			135			Annexin 2.		Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Missense_Mutation	SNP	ENST00000396024.3	37	c.404G>T	CCDS10175.1	.	.	.	.	.	.	.	.	.	.	C	34	5.399814	0.96030	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270;ENST00000504475	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.79	5.79	0.91817	Annexin repeat, conserved site (1);	0.000000	0.85682	U	0.000000	T	0.53916	0.1826	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.998	D;P;D	0.85130	0.997;0.798;0.96	T	0.68432	-0.5410	10	0.87932	D	0	.	18.8056	0.92035	0.0:1.0:0.0:0.0	.	135;153;135	B4DNH8;P07355-2;P07355	.;.;ANXA2_HUMAN	I	135;153;135;135;18	ENSP00000379342:R135I;ENSP00000346032:R153I;ENSP00000411352:R135I;ENSP00000387545:R135I	ENSP00000346032:R153I	R	-	2	0	ANXA2	58436681	1.000000	0.71417	0.956000	0.39512	0.927000	0.56198	7.171000	0.77595	2.753000	0.94483	0.555000	0.69702	AGA		0.488	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857		6	54	1	0	1.26484e-09	0.00308	1.86932e-09	6	54				
VPS13C	54832	broad.mit.edu	37	15	62202476	62202476	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:62202476G>C	ENST00000261517.5	-	64	8817	c.8744C>G	c.(8743-8745)tCa>tGa	p.S2915*	VPS13C_ENST00000395896.4_Nonsense_Mutation_p.S2915*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.S2872*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.S2872*	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.S2915*(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGTTTGCCTGACAAACTTTC	0.348																																							uc002agz.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(8743-8745)TCA>TGA		vacuolar protein sorting 13C protein isoform 2A							50.0	52.0	51.0					15																	62202476		2203	4300	6503	SO:0001587	stop_gained	54832				protein localization			g.chr15:62202476G>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8744C>G	15.37:g.62202476G>C	ENSP00000261517:p.Ser2915*					VPS13C_uc002aha.2_Nonsense_Mutation_p.S2872*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.S2915*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.S2872*|VPS13C_uc002ahd.1_Nonsense_Mutation_p.S292*	p.S2915*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			64	8818	-			2915						Nonsense_Mutation	SNP	ENST00000261517.5	37	c.8744C>G	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	50	17.046434	0.99878	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.85	5.85	0.93711	.	0.204271	0.43416	D	0.000563	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.3166	0.74085	0.0685:0.0:0.9315:0.0	.	.	.	.	X	2872;2915;2915;2915	.	ENSP00000249837:S2872X	S	-	2	0	VPS13C	59989768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.536000	0.90627	2.753000	0.94483	0.655000	0.94253	TCA		0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		5	32	0	0	0	0.001984	0	5	32				
SPESP1	246777	broad.mit.edu	37	15	69238346	69238346	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:69238346C>A	ENST00000310673.3	+	2	627	c.473C>A	c.(472-474)gCa>gAa	p.A158E	SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	158					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)		p.A158E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CAAACTGAGGCACCAAGAATG	0.433																																							uc002arn.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(472-474)GCA>GAA		sperm equatorial segment protein 1 precursor							93.0	92.0	92.0					15																	69238346		2200	4298	6498	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238346C>A	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.473C>A	15.37:g.69238346C>A	ENSP00000312284:p.Ala158Glu					NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	p.A158E	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN			2	601	+			158					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.473C>A	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	C	7.091	0.572239	0.13623	.	.	ENSG00000258484	ENST00000310673	T	0.27890	1.64	4.21	0.893	0.19236	.	1.797520	0.03730	N	0.253252	T	0.15825	0.0381	N	0.12182	0.205	0.09310	N	1	P	0.41102	0.738	B	0.39465	0.3	T	0.13442	-1.0509	10	0.02654	T	1	-0.2282	6.9676	0.24631	0.1895:0.4414:0.3691:0.0	.	158	Q6UW49	SPESP_HUMAN	E	158	ENSP00000312284:A158E	ENSP00000312284:A158E	A	+	2	0	SPESP1	67025400	.	.	0.000000	0.03702	0.086000	0.17979	.	.	0.488000	0.27723	0.655000	0.94253	GCA		0.433	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		7	80	1	0	8.12818e-05	0.001984	9.7994e-05	7	80				
GOLGA6B	55889	broad.mit.edu	37	15	72953689	72953689	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:72953689C>A	ENST00000421285.3	+	8	649	c.649C>A	c.(649-651)Cag>Aag	p.Q217K		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	217						Golgi apparatus (GO:0005794)		p.Q217K(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						ACACGTGACACAGGTGAGGCT	0.597																																							uc010uks.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(649-651)CAG>AAG		golgi autoantigen, golgin subfamily a, 6B							30.0	37.0	34.0					15																	72953689		1335	2414	3749	SO:0001583	missense	55889							g.chr15:72953689C>A		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.649C>A	15.37:g.72953689C>A	ENSP00000408132:p.Gln217Lys						p.Q217K	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN			8	690	+			217			Potential.		A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.649C>A	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	12.56	1.973606	0.34848	.	.	ENSG00000215186	ENST00000421285	T	0.26518	1.73	0.39	0.39	0.16275	.	.	.	.	.	T	0.25865	0.0630	M	0.69523	2.12	0.22989	N	0.998469	B	0.19583	0.037	B	0.12156	0.007	T	0.30937	-0.9961	9	0.66056	D	0.02	.	6.668	0.23052	0.0:0.9998:0.0:2.0E-4	.	217	A6NDN3	GOG6B_HUMAN	K	217	ENSP00000408132:Q217K	ENSP00000408132:Q217K	Q	+	1	0	GOLGA6B	70740743	0.935000	0.31712	0.048000	0.18961	0.050000	0.14768	2.436000	0.44819	0.472000	0.27344	0.134000	0.15878	CAG		0.597	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		4	102	1	0	5.9392e-07	0.001168	8.11361e-07	4	102				
CSPG4	1464	broad.mit.edu	37	15	75974658	75974658	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:75974658G>T	ENST00000308508.5	-	8	5018	c.4926C>A	c.(4924-4926)gcC>gcA	p.A1642A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1642	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.A1642A(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGTTCACCAGGGCCTCCCCTG	0.662																																							uc002baw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(4924-4926)GCC>GCA		chondroitin sulfate proteoglycan 4 precursor							64.0	52.0	56.0					15																	75974658		2196	4283	6479	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75974658G>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4926C>A	15.37:g.75974658G>T							p.A1642A	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			8	5019	-			1642			Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).|CSPG 11.		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.4926C>A	CCDS10284.1																																																																																				0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		5	73	1	0	1.06961e-07	0.00308	1.48823e-07	5	73				
PEAK1	79834	broad.mit.edu	37	15	77471964	77471964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:77471964G>A	ENST00000560626.2	-	4	2780	c.2305C>T	c.(2305-2307)Cag>Tag	p.Q769*	PEAK1_ENST00000312493.4_Nonsense_Mutation_p.Q769*|PEAK1_ENST00000558305.1_Nonsense_Mutation_p.Q769*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	769					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.Q769*(2)									GCCACAATCTGAGAAAGCACT	0.522																																							uc002bcm.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(2305-2307)CAG>TAG		NKF3 kinase family member							73.0	73.0	73.0					15																	77471964		2014	4185	6199	SO:0001587	stop_gained	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77471964G>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.2305C>T	15.37:g.77471964G>A	ENSP00000452796:p.Gln769*					SGK269_uc002bcn.2_Nonsense_Mutation_p.Q769*	p.Q769*	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	3	2613	-			769					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Nonsense_Mutation	SNP	ENST00000560626.2	37	c.2305C>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	43	10.204927	0.99359	.	.	ENSG00000173517	ENST00000312493	.	.	.	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.5662	20.2617	0.98447	0.0:0.0:1.0:0.0	.	.	.	.	X	769	.	ENSP00000309230:Q769X	Q	-	1	0	AC087465.1	75259019	1.000000	0.71417	0.949000	0.38748	0.701000	0.40568	9.675000	0.98638	2.793000	0.96121	0.655000	0.94253	CAG		0.522	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			7	64	0	0	0	0.001984	0	7	64				
PEAK1	79834	broad.mit.edu	37	15	77472167	77472167	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:77472167G>C	ENST00000560626.2	-	4	2577	c.2102C>G	c.(2101-2103)tCa>tGa	p.S701*	PEAK1_ENST00000312493.4_Nonsense_Mutation_p.S701*|PEAK1_ENST00000558305.1_Nonsense_Mutation_p.S701*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	701					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.S701*(2)									CTGAGCCACTGAGCCCCTTTT	0.448																																							uc002bcm.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(2101-2103)TCA>TGA		NKF3 kinase family member							157.0	148.0	151.0					15																	77472167		1904	4133	6037	SO:0001587	stop_gained	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77472167G>C		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.2102C>G	15.37:g.77472167G>C	ENSP00000452796:p.Ser701*					SGK269_uc002bcn.2_Nonsense_Mutation_p.S701*	p.S701*	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	3	2410	-			701					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Nonsense_Mutation	SNP	ENST00000560626.2	37	c.2102C>G	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	43	9.952415	0.99303	.	.	ENSG00000173517	ENST00000312493	.	.	.	5.89	5.89	0.94794	.	0.633028	0.11369	U	0.571045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-4.0377	18.4423	0.90671	0.0:0.0:1.0:0.0	.	.	.	.	X	701	.	ENSP00000309230:S701X	S	-	2	0	AC087465.1	75259222	0.999000	0.42202	0.929000	0.37066	0.869000	0.49853	2.845000	0.48254	2.793000	0.96121	0.655000	0.94253	TCA		0.448	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			11	190	0	0	0	0.008291	0	11	190				
WDR93	56964	broad.mit.edu	37	15	90258235	90258235	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:90258235T>A	ENST00000268130.7	+	6	766	c.665T>A	c.(664-666)gTg>gAg	p.V222E	RNU6-132P_ENST00000383863.1_RNA|WDR93_ENST00000560294.1_Missense_Mutation_p.V222E	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	222					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.V222E(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TGGCTGGATGTGTATAAATTG	0.463																																							uc002boj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(664-666)GTG>GAG		WD repeat domain 93							80.0	74.0	76.0					15																	90258235		2200	4299	6499	SO:0001583	missense	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90258235T>A		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.665T>A	15.37:g.90258235T>A	ENSP00000268130:p.Val222Glu					WDR93_uc010bnr.2_Missense_Mutation_p.V222E	p.V222E	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		6	766	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		222					Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	c.665T>A	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297936	0.81025	.	.	ENSG00000140527	ENST00000268130	T	0.34859	1.34	5.44	5.44	0.79542	WD40 repeat-like-containing domain (1);	0.075792	0.52532	D	0.000062	T	0.58708	0.2141	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.63287	-0.6671	10	0.87932	D	0	-25.2078	11.8778	0.52558	0.0:0.0:0.0:1.0	.	222;222	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	E	222	ENSP00000268130:V222E	ENSP00000268130:V222E	V	+	2	0	WDR93	88059239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.906000	0.56340	2.056000	0.61249	0.459000	0.35465	GTG		0.463	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		3	28	0	0	0	0.004672	0	3	28				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																							uc002cdi.2		NA																	10	Substitution - Missense(10)		kidney(7)|prostate(2)|endometrium(1)		0						c.(523-525)GGC>AGC		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.G175S	NR_003659						9	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		5	11	0	0	0	0.000602	0	5	11				
JMJD8	339123	broad.mit.edu	37	16	731479	731479	+	IGR	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:731479G>A	ENST00000293882.4	-	0	2123				STUB1_ENST00000565677.1_Missense_Mutation_p.D62N|LA16c-313D11.9_ENST00000567091.1_RNA|STUB1_ENST00000566181.2_3'UTR|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000564370.1_Missense_Mutation_p.D62N|STUB1_ENST00000219548.4_Missense_Mutation_p.D134N			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)		p.D134N(1)		breast(1)	1						CTTCGGGGACGACATCCCCAG	0.642																																							uc002cit.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(400-402)GAC>AAC		STIP1 homology and U-box containing protein 1							34.0	35.0	35.0					16																	731479		2195	4300	6495	SO:0001628	intergenic_variant	10273				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity	g.chr16:731479G>A		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16			16.37:g.731479G>A						STUB1_uc002ciu.2_Missense_Mutation_p.D62N|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA	p.D134N	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN			3	811	+		Hepatocellular(780;0.00335)	134					B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Missense_Mutation	SNP	ENST00000293882.4	37	c.400G>A		.	.	.	.	.	.	.	.	.	.	G	29.1	4.978747	0.92982	.	.	ENSG00000103266	ENST00000219548	T	0.15487	2.42	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.34129	-0.9841	10	0.49607	T	0.09	-44.7669	16.5483	0.84457	0.0:0.0:1.0:0.0	.	134	Q9UNE7	CHIP_HUMAN	N	134	ENSP00000219548:D134N	ENSP00000219548:D134N	D	+	1	0	STUB1	671480	1.000000	0.71417	0.992000	0.48379	0.796000	0.44982	9.596000	0.98267	2.366000	0.80165	0.555000	0.69702	GAC		0.642	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920		6	21	0	0	0	0.001168	0	6	21				
ANKS3	124401	broad.mit.edu	37	16	4748910	4748910	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:4748910G>C	ENST00000304283.4	-	13	1736	c.1442C>G	c.(1441-1443)gCc>gGc	p.A481G	ANKS3_ENST00000585773.1_Missense_Mutation_p.A408G|ANKS3_ENST00000446014.2_Missense_Mutation_p.A352G	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	481	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.							p.A481G(1)		endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCGGGCAATGGCGGACGTCAT	0.652																																							uc002cxj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1441-1443)GCC>GGC		ankyrin repeat and sterile alpha motif domain							34.0	39.0	37.0					16																	4748910		2197	4300	6497	SO:0001583	missense	124401							g.chr16:4748910G>C	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1442C>G	16.37:g.4748910G>C	ENSP00000304586:p.Ala481Gly					ANKS3_uc010uxr.1_Missense_Mutation_p.A4G|ANKS3_uc002cxh.1_RNA|ANKS3_uc002cxi.1_Missense_Mutation_p.A408G|ANKS3_uc002cxk.2_Missense_Mutation_p.A352G|ANKS3_uc002cxl.2_Missense_Mutation_p.A308G|ANKS3_uc010uxs.1_Missense_Mutation_p.A408G	p.A481G	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN			13	1737	-			481			SAM.		B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.1442C>G	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552873	0.86127	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	D;D	0.85629	-2.01;-2.01	5.34	5.34	0.76211	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.108250	0.64402	D	0.000007	D	0.92515	0.7623	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92912	0.6348	10	0.66056	D	0.02	-0.5336	18.3921	0.90486	0.0:0.0:1.0:0.0	.	481	Q6ZW76	ANKS3_HUMAN	G	481;352	ENSP00000304586:A481G;ENSP00000406796:A352G	ENSP00000304586:A481G	A	-	2	0	ANKS3	4688911	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	7.556000	0.82233	2.658000	0.90341	0.551000	0.68910	GCC		0.652	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		5	45	0	0	0	0.000602	0	5	45				
CLEC16A	23274	broad.mit.edu	37	16	11071113	11071113	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:11071113G>T	ENST00000409790.1	+	8	990	c.760G>T	c.(760-762)Gtg>Ttg	p.V254L	CLEC16A_ENST00000409552.3_Missense_Mutation_p.V252L	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.V254L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAGTGATCTGGTGGCAGAGCA	0.527																																							uc002dao.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(760-762)GTG>TTG		C-type lectin domain family 16, member A							155.0	154.0	154.0					16																	11071113		2066	4213	6279	SO:0001583	missense	23274							g.chr16:11071113G>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.760G>T	16.37:g.11071113G>T	ENSP00000387122:p.Val254Leu					CLEC16A_uc002dan.3_Missense_Mutation_p.V252L	p.V254L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			8	990	+			254						Missense_Mutation	SNP	ENST00000409790.1	37	c.760G>T	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	35	5.447819	0.96205	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.53206	0.63	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	L	0.59436	1.845	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.76071	0.98;0.987	T	0.59209	-0.7497	10	0.30854	T	0.27	-24.0877	19.0707	0.93134	0.0:0.0:1.0:0.0	.	254;252	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	L	254;254;252	ENSP00000387122:V254L	ENSP00000386495:V252L	V	+	1	0	CLEC16A	10978614	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.746000	0.94184	0.655000	0.94253	GTG		0.527	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		13	58	1	0	0.00136819	0.001368	0.00153476	13	58				
GPR139	124274	broad.mit.edu	37	16	20043061	20043061	+	Missense_Mutation	SNP	G	G	T	rs199929675	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:20043061G>T	ENST00000570682.1	-	2	1358	c.1058C>A	c.(1057-1059)cCg>cAg	p.P353Q		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	353					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.P353Q(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATGGAATCACGGGGATACTTT	0.473																																							uc002dgu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1057-1059)CCG>CAG		G protein-coupled receptor 139							101.0	101.0	101.0					16																	20043061		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043061G>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.1058C>A	16.37:g.20043061G>T	ENSP00000458791:p.Pro353Gln					GPR139_uc010vaw.1_Missense_Mutation_p.P260Q	p.P353Q	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	1220	-			353			Cytoplasmic (Potential).		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.1058C>A	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665912	0.67700	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.63	5.63	0.86233	.	0.058459	0.64402	D	0.000001	T	0.45856	0.1363	N	0.08118	0	0.44129	D	0.996917	D	0.60575	0.988	P	0.50231	0.635	T	0.56745	-0.7928	9	0.87932	D	0	.	18.6977	0.91607	0.0:0.0:1.0:0.0	.	353	Q6DWJ6	GP139_HUMAN	Q	353	.	ENSP00000370779:P353Q	P	-	2	0	GPR139	19950562	1.000000	0.71417	0.988000	0.46212	0.772000	0.43724	9.229000	0.95273	2.652000	0.90054	0.655000	0.94253	CCG		0.473	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		8	87	1	0	0.00621372	0.006214	0.00673588	8	87				
POLR3E	55718	broad.mit.edu	37	16	22330212	22330212	+	Silent	SNP	C	C	T	rs58061211		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:22330212C>T	ENST00000299853.5	+	13	1098	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	POLR3E_ENST00000564209.1_Silent_p.L311L|POLR3E_ENST00000418581.2_Silent_p.L275L|POLR3E_ENST00000359210.4_Silent_p.L311L	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	311					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.L311L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CGTGGCTGTTCTGCGGGGCAT	0.473																																							uc002dkk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(931-933)CTG>TTG		RNA polymerase III polypeptide E							111.0	109.0	110.0					16																	22330212		2197	4300	6497	SO:0001819	synonymous_variant	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22330212C>T	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.931C>T	16.37:g.22330212C>T						POLR3E_uc002dkj.1_Silent_p.L311L|POLR3E_uc002dkm.2_Silent_p.L275L|POLR3E_uc010vbr.1_Silent_p.L311L|POLR3E_uc002dkl.2_Silent_p.L311L|POLR3E_uc010vbs.1_Silent_p.L275L|POLR3E_uc010vbt.1_Silent_p.L255L	p.L311L	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	13	1087	+			311					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Silent	SNP	ENST00000299853.5	37	c.931C>T	CCDS10605.1																																																																																				0.473	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		16	72	0	0	0	0.008871	0	16	72				
DCTN5	84516	broad.mit.edu	37	16	23678456	23678456	+	Silent	SNP	G	G	T	rs368933739	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:23678456G>T	ENST00000300087.2	+	6	691	c.540G>T	c.(538-540)acG>acT	p.T180T	CTD-2196E14.9_ENST00000566996.1_lincRNA|DCTN5_ENST00000563998.1_3'UTR	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	180					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)		p.T180T(1)		endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		TGCCCCTGACGCAAGTCTAGC	0.507																																							uc002dly.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(538-540)ACG>ACT		dynactin 5							98.0	92.0	94.0					16																	23678456		2197	4300	6497	SO:0001819	synonymous_variant	84516					centrosome	transferase activity	g.chr16:23678456G>T		CCDS10615.1, CCDS58435.1, CCDS58436.1	16p12.1	2008-02-05			ENSG00000166847	ENSG00000166847			24594	protein-coding gene	gene with protein product		612962				10525537, 15043994	Standard	NM_032486		Approved	MGC3248, p25	uc002dly.2	Q9BTE1	OTTHUMG00000131610	ENST00000300087.2:c.540G>T	16.37:g.23678456G>T							p.T180T	NM_032486	NP_115875	Q9BTE1	DCTN5_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	6	597	+			180					A8K9X8|H3BN51|H3BQA4	Silent	SNP	ENST00000300087.2	37	c.540G>T	CCDS10615.1																																																																																				0.507	DCTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254497.1	NM_032486		9	46	1	0	0.000442599	0.006214	0.00050913	9	46				
TNRC6A	27327	broad.mit.edu	37	16	24801038	24801038	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:24801038A>T	ENST00000395799.3	+	6	1204	c.1075A>T	c.(1075-1077)Agc>Tgc	p.S359C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S359C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	359	Interaction with argonaute family proteins.|Ser-rich.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S359C(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GTTAAATCCAAGCACTTTGAA	0.448																																							uc002dmm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1075-1077)AGC>TGC		trinucleotide repeat containing 6A							87.0	93.0	91.0					16																	24801038		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24801038A>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1075A>T	16.37:g.24801038A>T	ENSP00000379144:p.Ser359Cys					TNRC6A_uc010bxs.2_Missense_Mutation_p.S106C|TNRC6A_uc010vcc.1_Missense_Mutation_p.S106C|TNRC6A_uc002dmn.2_Missense_Mutation_p.S106C|TNRC6A_uc002dmo.2_Missense_Mutation_p.S106C	p.S359C	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	1189	+			359			Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.1075A>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	A	17.18	3.322882	0.60634	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.16196	2.36;2.38	5.94	5.94	0.96194	.	0.042717	0.85682	D	0.000000	T	0.41003	0.1140	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.991;0.987;0.97	T	0.18147	-1.0346	10	0.72032	D	0.01	-9.6732	16.3951	0.83601	1.0:0.0:0.0:0.0	.	106;359;359	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	C	359	ENSP00000326900:S359C;ENSP00000379144:S359C	ENSP00000326900:S359C	S	+	1	0	TNRC6A	24708539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.671000	0.91174	2.272000	0.75746	0.460000	0.39030	AGC		0.448	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		7	72	0	0	0	0.00308	0	7	72				
AQP8	343	broad.mit.edu	37	16	25235823	25235823	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:25235823C>T	ENST00000219660.5	+	4	653	c.528C>T	c.(526-528)gcC>gcT	p.A176A	AQP8_ENST00000566125.1_Silent_p.A170A	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	176					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)	p.A176A(2)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GCATGGGTGCCATCAATGAGA	0.622																																							uc002doc.2		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3						c.(526-528)GCC>GCT		aquaporin 8							92.0	77.0	82.0					16																	25235823		2197	4300	6497	SO:0001819	synonymous_variant	343				cellular response to cAMP	integral to plasma membrane	water channel activity	g.chr16:25235823C>T	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.528C>T	16.37:g.25235823C>T							p.A176A	NM_001169	NP_001160	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)	4	610	+			176			Helical; (Potential).		Q8IUU3|Q9UIA4	Silent	SNP	ENST00000219660.5	37	c.528C>T	CCDS10626.1																																																																																				0.622	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169		12	60	0	0	0	0.001368	0	12	60				
GTF3C1	2975	broad.mit.edu	37	16	27499680	27499680	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:27499680C>A	ENST00000356183.4	-	23	3583	c.3568G>T	c.(3568-3570)Ggc>Tgc	p.G1190C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G1190C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1190					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.G1190C(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTTCCCAGCCAGCACAGAGC	0.562																																							uc002dov.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(3568-3570)GGC>TGC		general transcription factor IIIC, polypeptide							137.0	142.0	140.0					16																	27499680		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27499680C>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3568G>T	16.37:g.27499680C>A	ENSP00000348510:p.Gly1190Cys					GTF3C1_uc002dou.2_Missense_Mutation_p.G1190C	p.G1190C	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			23	3608	-			1190					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.3568G>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	6.194	0.403981	0.11754	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.23552	1.9	4.87	2.86	0.33363	.	0.580895	0.17502	N	0.171977	T	0.19846	0.0477	N	0.14661	0.345	0.09310	N	1	P;P	0.39964	0.571;0.697	B;P	0.46049	0.264;0.502	T	0.08576	-1.0715	10	0.56958	D	0.05	-10.2226	9.0782	0.36536	0.0:0.7686:0.1485:0.0829	.	1190;1190	Q12789;Q12789-3	TF3C1_HUMAN;.	C	1190;1186	ENSP00000348510:G1190C	ENSP00000348510:G1190C	G	-	1	0	GTF3C1	27407181	0.930000	0.31532	0.002000	0.10522	0.043000	0.13939	2.851000	0.48302	0.444000	0.26612	0.561000	0.74099	GGC		0.562	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		25	186	1	0	1.5548e-18	0.005443	2.5714e-18	25	186				
CD19	930	broad.mit.edu	37	16	28948593	28948594	+	Splice_Site	DNP	CC	CC	AA			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:28948593_28948594CC>AA	ENST00000324662.3	+	9	1244_1245	c.1200_1201CC>AA	c.(1198-1203)ggCCca>ggAAca	p.P401T	CD19_ENST00000567541.1_Splice_Site_p.P401T|CD19_ENST00000538922.1_Splice_Site_p.P401T			P15391	CD19_HUMAN	CD19 molecule	401					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)	p.P401T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						AACCCCCAGGCCCAGAAGAAGA	0.614																																							uc002drs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1198-1203)GGCCCA>GGAACA		CD19 antigen precursor																																				SO:0001630	splice_region_variant	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28948593_28948594CC>AA		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	Exception_encountered	16.37:g.28948593_28948594delinsAA						uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.P401T	p.P401T	NM_001770	NP_001761	P15391	CD19_HUMAN			9	1262_1263	+			401			Cytoplasmic (Potential).		A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	DNP	ENST00000324662.3	37	c.1200_1201CC>AA	CCDS10644.1																																																																																				0.614	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2		Missense_Mutation	6	12	0	0	0	0.004672	0	6	12				
PRSS53	339105	broad.mit.edu	37	16	31095549	31095549	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:31095549G>A	ENST00000280606.6	-	10	1686	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	511	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.F511F(1)		large_intestine(1)|lung(3)	4						GGAGCGCGGTGAAGACCGCCG	0.662																																							uc002eaq.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1531-1533)TTC>TTT		polyserase 3 precursor							17.0	21.0	20.0					16																	31095549		1956	4123	6079	SO:0001819	synonymous_variant	339105				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:31095549G>A		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"""Serine peptidases / Serine peptidases"""	34407	protein-coding gene	gene with protein product	"""polyserase 3"""	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.1533C>T	16.37:g.31095549G>A						PRSS53_uc002ear.2_Silent_p.F305F	p.F511F	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN			10	1533	-			511			Peptidase S1 2.			Silent	SNP	ENST00000280606.6	37	c.1533C>T	CCDS42153.1																																																																																				0.662	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	NM_001081268		4	17	0	0	0	0.009096	0	4	17				
ITGAM	3684	broad.mit.edu	37	16	31277365	31277365	+	Silent	SNP	C	C	A	rs370133643		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:31277365C>A	ENST00000287497.8	+	5	399	c.324C>A	c.(322-324)acC>acA	p.T108T	RNU7-199P_ENST00000517067.1_RNA|ITGAM_ENST00000544665.3_Silent_p.T108T			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	108					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.T108T(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GTGGTCCCACCGTGCACCAGA	0.622																																							uc002ebq.2		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(322-324)ACC>ACA		integrin alpha M isoform 2 precursor							60.0	63.0	62.0					16																	31277365		2073	4195	6268	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31277365C>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.324C>A	16.37:g.31277365C>A						ITGAM_uc002ebr.2_Silent_p.T108T	p.T108T	NM_000632	NP_000623	P11215	ITAM_HUMAN			5	422	+			108			FG-GAP 2.|Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.324C>A	CCDS45470.1																																																																																				0.622	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		15	36	1	0	3.32936e-07	0.006122	4.57597e-07	15	36				
FRG2KP	102724018	broad.mit.edu	37	16	31580426	31580426	+	RNA	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:31580426C>A	ENST00000565692.1	-	0	0																											CTACACTGCGCAGATATTTCT	0.438																																							uc010vfr.1		NA																	0					0						c.(391-393)CTG>CTT		SubName: Full=CSDA protein variant; Flags: Fragment;																																						440359							g.chr16:31580426C>A																													16.37:g.31580426C>A							p.L131L	NR_027011						1	420	-									Silent	SNP	ENST00000565692.1	37	c.393G>T																																																																																					0.438	CTD-2014E2.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432903.1			13	60	1	0	6.31663e-08	0.003163	8.84328e-08	13	60				
NOD2	64127	broad.mit.edu	37	16	50745464	50745464	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:50745464C>T	ENST00000300589.2	+	4	1747	c.1642C>T	c.(1642-1644)Ctg>Ttg	p.L548L	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	548	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.L548L(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCCCACCCTCCTGCACCTGGG	0.627																																							uc002egm.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1642-1644)CTG>TTG		nucleotide-binding oligomerization domain							32.0	36.0	34.0					16																	50745464		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745464C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1642C>T	16.37:g.50745464C>T						NOD2_uc010cbk.1_Silent_p.L521L|NOD2_uc002egl.1_Silent_p.L326L|NOD2_uc010cbl.1_Silent_p.L326L|NOD2_uc010cbm.1_Silent_p.L326L|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.L548L	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	1747	+		all_cancers(37;0.0156)	548			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.1642C>T	CCDS10746.1																																																																																				0.627	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		6	47	0	0	0	0.00308	0	6	47				
RBL2	5934	broad.mit.edu	37	16	53487410	53487410	+	Silent	SNP	C	C	T	rs140105334		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:53487410C>T	ENST00000262133.6	+	6	950	c.813C>T	c.(811-813)gaC>gaT	p.D271D	RBL2_ENST00000544545.1_Silent_p.D55D|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	271					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.D271D(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTTCCTCTGACCCCCCTTGTA	0.383																																							uc002ehi.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(811-813)GAC>GAT		retinoblastoma-like 2 (p130)							144.0	146.0	145.0					16																	53487410		2198	4299	6497	SO:0001819	synonymous_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53487410C>T	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.813C>T	16.37:g.53487410C>T						RBL2_uc010vgv.1_Silent_p.D197D|RBL2_uc002ehj.2_5'UTR|RBL2_uc010vgw.1_Silent_p.D55D	p.D271D	NM_005611	NP_005602	Q08999	RBL2_HUMAN			6	931	+			271					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	c.813C>T	CCDS10748.1																																																																																				0.383	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		21	186	0	0	0	0.001882	0	21	186				
OGFOD1	55239	broad.mit.edu	37	16	56504618	56504618	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:56504618G>C	ENST00000566157.1	+	10	1323	c.1200G>C	c.(1198-1200)gaG>gaC	p.E400D	OGFOD1_ENST00000568397.1_Missense_Mutation_p.E357D	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	400					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)	p.E400D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CTGAGCCAGAGAATAATCAGA	0.453																																							uc002ejb.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1198-1200)GAG>GAC		2-oxoglutarate and iron-dependent oxygenase	Vitamin C(DB00126)						88.0	82.0	84.0					16																	56504618		2198	4300	6498	SO:0001583	missense	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56504618G>C	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.1200G>C	16.37:g.56504618G>C	ENSP00000457258:p.Glu400Asp					OGFOD1_uc002ejc.2_Missense_Mutation_p.E260D	p.E400D	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN			10	1301	+			400					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	c.1200G>C	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847537	0.51164	.	.	ENSG00000087263	ENST00000336111;ENST00000540727	.	.	.	5.29	2.17	0.27698	Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain (1);	0.501612	0.23159	N	0.051261	T	0.41305	0.1153	M	0.63428	1.95	0.09310	N	1	B	0.23650	0.089	B	0.28011	0.085	T	0.29518	-1.0009	9	0.14656	T	0.56	-12.5973	9.6687	0.40000	0.342:0.0:0.6579:0.0	.	400	Q8N543	OGFD1_HUMAN	D	400;244	.	ENSP00000337196:E400D	E	+	3	2	OGFOD1	55062119	0.941000	0.31946	0.306000	0.25113	0.670000	0.39368	0.827000	0.27421	0.710000	0.31997	0.655000	0.94253	GAG		0.453	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		3	31	0	0	0	0.009096	0	3	31				
CNGB1	1258	broad.mit.edu	37	16	57994775	57994775	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:57994775C>T	ENST00000251102.8	-	8	563	c.503G>A	c.(502-504)aGa>aAa	p.R168K	CNGB1_ENST00000564448.1_Missense_Mutation_p.R168K|CNGB1_ENST00000311183.4_Missense_Mutation_p.R168K	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	168					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.R168K(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AGGAAGCACTCTTTCCAGATT	0.627																																					Colon(156;1293 1853 16336 28962 38659)	Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|pancreas(1)	4						c.(502-504)AGA>AAA		cyclic nucleotide gated channel beta 1 isoform							30.0	38.0	35.0					16																	57994775		1984	4171	6155	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57994775C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.503G>A	16.37:g.57994775C>T	ENSP00000251102:p.Arg168Lys					CNGB1_uc010cdh.2_Missense_Mutation_p.R168K|CNGB1_uc002emu.2_Missense_Mutation_p.R168K	p.R168K	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			8	568	-			168					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.503G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.540233	0.00934	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.92397	-3.03;1.57	4.62	2.36	0.29203	.	0.217431	0.23096	N	0.051965	T	0.74007	0.3660	N	0.02539	-0.55	0.21762	N	0.999554	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.0	T	0.61564	-0.7037	10	0.07482	T	0.82	.	6.0357	0.19706	0.0:0.2221:0.0:0.7779	.	168;168	Q14028-3;Q14028	.;CNGB1_HUMAN	K	168	ENSP00000251102:R168K;ENSP00000311670:R168K	ENSP00000251102:R168K	R	-	2	0	CNGB1	56552276	0.997000	0.39634	0.960000	0.40013	0.020000	0.10135	0.847000	0.27696	0.251000	0.21505	-0.302000	0.09304	AGA		0.627	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		6	37	0	0	0	0.001984	0	6	37				
CDH11	1009	broad.mit.edu	37	16	64981815	64981815	+	Silent	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:64981815T>C	ENST00000268603.4	-	13	2697	c.2082A>G	c.(2080-2082)aaA>aaG	p.K694K	CDH11_ENST00000566827.1_Silent_p.K568K|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	694					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K694K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GTTTGATGTCTTTGCGGGGGA	0.498			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		1	Substitution - coding silent(1)		lung(1)	lung(10)|ovary(3)|skin(1)	14						c.(2080-2082)AAA>AAG		cadherin 11, type 2 preproprotein							141.0	136.0	138.0					16																	64981815		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64981815T>C	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2082A>G	16.37:g.64981815T>C		TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Silent_p.K568K	p.K694K	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	13	2516	-		Ovarian(137;0.0973)	694			Cytoplasmic (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.2082A>G	CCDS10803.1																																																																																				0.498	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		21	126	0	0	0	0.001882	0	21	126				
ESRP2	80004	broad.mit.edu	37	16	68268006	68268006	+	Nonsense_Mutation	SNP	G	G	C	rs12597504	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:68268006G>C	ENST00000565858.1	-	3	418	c.332C>G	c.(331-333)tCa>tGa	p.S111*	ESRP2_ENST00000473183.2_Nonsense_Mutation_p.S111*|RP11-96D1.6_ENST00000564147.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	111			S -> L (in dbSNP:rs12597504).		mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S111*(2)		NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CACCAGCTGTGAGAACTGGGG	0.607																																							uc010cfa.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(331-333)TCA>TGA		RNA binding motif protein 35B							23.0	22.0	22.0					16																	68268006		2198	4300	6498	SO:0001587	stop_gained	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68268006G>C	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.332C>G	16.37:g.68268006G>C	ENSP00000454554:p.Ser111*					ESRP2_uc002evp.1_5'Flank|ESRP2_uc002evq.1_Nonsense_Mutation_p.S111*	p.S111*	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN			3	520	-			111					Q8N6H8|Q8WZ15|Q9H6I4	Nonsense_Mutation	SNP	ENST00000565858.1	37	c.332C>G		.	.	.	.	.	.	.	.	.	.	G	39	7.750862	0.98468	.	.	ENSG00000103067	ENST00000473183	.	.	.	5.24	3.15	0.36227	.	0.526868	0.21001	N	0.081866	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-6.4847	2.2364	0.04009	0.1687:0.2117:0.4801:0.1395	.	.	.	.	X	111	.	ENSP00000418748:S111X	S	-	2	0	ESRP2	66825507	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.983000	0.49345	1.357000	0.45904	0.591000	0.81541	TCA		0.607	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		3	15	0	0	0	0.004672	0	3	15				
NFAT5	10725	broad.mit.edu	37	16	69724898	69724898	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:69724898G>A	ENST00000354436.2	+	11	2094	c.1776G>A	c.(1774-1776)ctG>ctA	p.L592L	NFAT5_ENST00000349945.1_Silent_p.L516L|NFAT5_ENST00000393742.2_Silent_p.L516L|NFAT5_ENST00000432919.1_Silent_p.L610L|NFAT5_ENST00000567239.1_Silent_p.L609L|NFAT5_ENST00000566899.1_Silent_p.L516L	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	592					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L516L(1)|p.L610L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTAATGCCCTGATGACTCCAC	0.328																																							uc002exm.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1774-1776)CTG>CTA		nuclear factor of activated T-cells 5 isoform c							109.0	111.0	110.0					16																	69724898		2198	4298	6496	SO:0001819	synonymous_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69724898G>A	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1776G>A	16.37:g.69724898G>A						NFAT5_uc002exi.2_Silent_p.L516L|NFAT5_uc002exj.1_Silent_p.L516L|NFAT5_uc002exk.1_Silent_p.L516L|NFAT5_uc002exl.1_Silent_p.L610L|NFAT5_uc002exn.1_Silent_p.L609L|NFAT5_uc002exo.1_5'Flank	p.L592L	NM_006599	NP_006590	O94916	NFAT5_HUMAN			11	2984	+			592					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	ENST00000354436.2	37	c.1776G>A	CCDS10881.1																																																																																				0.328	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		11	86	0	0	0	0.000978	0	11	86				
PHLPP2	23035	broad.mit.edu	37	16	71701199	71701199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:71701199C>A	ENST00000568954.1	-	12	2044	c.1666G>T	c.(1666-1668)Gga>Tga	p.G556*	PHLPP2_ENST00000567016.1_Nonsense_Mutation_p.G591*|RNU6-208P_ENST00000362431.1_RNA|PHLPP2_ENST00000356272.3_Nonsense_Mutation_p.G556*|PHLPP2_ENST00000393524.2_Nonsense_Mutation_p.G556*|PHLPP2_ENST00000360429.3_Nonsense_Mutation_p.G556*			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	556					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.G556*(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TGATTGTGTCCCAGCATCAGT	0.453																																							uc002fax.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1666-1668)GGA>TGA		PH domain and leucine rich repeat protein							103.0	87.0	92.0					16																	71701199		2198	4300	6498	SO:0001587	stop_gained	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71701199C>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1666G>T	16.37:g.71701199C>A	ENSP00000457991:p.Gly556*					PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Nonsense_Mutation_p.G556*	p.G556*	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			11	1672	-			556			LRR 14.		A1L374|Q9NV17|Q9Y2E3	Nonsense_Mutation	SNP	ENST00000568954.1	37	c.1666G>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	36	5.616061	0.96649	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	.	.	.	5.7	5.7	0.88788	.	0.050808	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-9.6737	18.8158	0.92076	0.0:1.0:0.0:0.0	.	.	.	.	X	363;556;556;556	.	ENSP00000299971:G363X	G	-	1	0	PHLPP2	70258700	1.000000	0.71417	0.998000	0.56505	0.440000	0.31957	6.999000	0.76283	2.697000	0.92050	0.585000	0.79938	GGA		0.453	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		5	56	1	0	0.00116845	0.001168	0.00131559	5	56				
CNTNAP4	85445	broad.mit.edu	37	16	76350405	76350405	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:76350405C>A	ENST00000476707.1	+	1	329	c.190C>A	c.(190-192)Ctg>Atg	p.L64M	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L36M|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L60M|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.L60M			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	61	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.L36M(2)|p.L60M(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATTTGCAAGGCTGAATAGAAG	0.448																																							uc002feu.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(181-183)CTG>ATG		cell recognition protein CASPR4 isoform 1							89.0	73.0	78.0					16																	76350405		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76350405C>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.190C>A	16.37:g.76350405C>A	ENSP00000417628:p.Leu64Met					CNTNAP4_uc002fev.1_Translation_Start_Site|CNTNAP4_uc010chb.1_Missense_Mutation_p.L36M|CNTNAP4_uc002fex.1_Missense_Mutation_p.L64M|CNTNAP4_uc002few.2_Missense_Mutation_p.L36M	p.L61M	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			4	566	+			61			Extracellular (Potential).|F5/8 type C.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.181C>A		.	.	.	.	.	.	.	.	.	.	C	14.36	2.511758	0.44660	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.98207	-4.79;-4.79;-4.79;-4.79	4.72	2.53	0.30540	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.31061	N	0.008323	D	0.98598	0.9531	.	.	.	0.39111	D	0.961474	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.998;1.0	D	0.99013	1.0815	9	0.87932	D	0	.	8.6391	0.33966	0.0:0.7956:0.0:0.2044	.	36;64;36;61	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	M	60;60;36;64	ENSP00000306893:L60M;ENSP00000439733:L60M;ENSP00000418741:L36M;ENSP00000417628:L64M	ENSP00000306893:L60M	L	+	1	2	CNTNAP4	74907906	1.000000	0.71417	0.988000	0.46212	0.382000	0.30200	2.572000	0.45999	0.587000	0.29643	0.655000	0.94253	CTG		0.448	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		8	28	1	0	0.00448238	0.004482	0.00490617	8	28				
CNTNAP4	85445	broad.mit.edu	37	16	76569454	76569454	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:76569454C>T	ENST00000476707.1	+	17	2916	c.2777C>T	c.(2776-2778)aCc>aTc	p.T926I	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.T850I|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.T874I|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.T922I			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	923	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.T850I(1)|p.T922I(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGAACGGCCACCAGACAGAGA	0.478																																							uc002feu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2767-2769)ACC>ATC		cell recognition protein CASPR4 isoform 1							55.0	61.0	59.0					16																	76569454		2192	4299	6491	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76569454C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2777C>T	16.37:g.76569454C>T	ENSP00000417628:p.Thr926Ile					CNTNAP4_uc002fev.1_Missense_Mutation_p.T787I|CNTNAP4_uc010chb.1_Missense_Mutation_p.T850I|CNTNAP4_uc002fex.1_Missense_Mutation_p.T926I	p.T923I	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			20	3153	+			923			Extracellular (Potential).|Laminin G-like 3.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2768C>T		.	.	.	.	.	.	.	.	.	.	C	26.1	4.706168	0.89018	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.18	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.176293	0.27415	N	0.019461	T	0.59335	0.2186	.	.	.	0.49915	D	0.999835	P;P;P	0.42296	0.578;0.741;0.775	P;P;P	0.53809	0.735;0.574;0.606	T	0.58470	-0.7631	9	0.51188	T	0.08	.	18.8927	0.92412	0.0:1.0:0.0:0.0	.	850;926;923	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	I	922;874;850;926	ENSP00000306893:T922I;ENSP00000439733:T874I;ENSP00000418741:T850I;ENSP00000417628:T926I	ENSP00000306893:T922I	T	+	2	0	CNTNAP4	75126955	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.651000	0.83577	2.687000	0.91594	0.655000	0.94253	ACC		0.478	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		8	41	0	0	0	0.006214	0	8	41				
CNTNAP4	85445	broad.mit.edu	37	16	76569461	76569461	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:76569461G>T	ENST00000476707.1	+	17	2923	c.2784G>T	c.(2782-2784)caG>caT	p.Q928H	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Q852H|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Q876H|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.Q924H			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	925	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.Q924H(1)|p.Q852H(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCACCAGACAGAGAGGCTTTC	0.478																																							uc002feu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2773-2775)CAG>CAT		cell recognition protein CASPR4 isoform 1							58.0	65.0	62.0					16																	76569461		2192	4298	6490	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76569461G>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2784G>T	16.37:g.76569461G>T	ENSP00000417628:p.Gln928His					CNTNAP4_uc002fev.1_Missense_Mutation_p.Q789H|CNTNAP4_uc010chb.1_Missense_Mutation_p.Q852H|CNTNAP4_uc002fex.1_Missense_Mutation_p.Q928H	p.Q925H	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			20	3160	+			925			Extracellular (Potential).|Laminin G-like 3.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2775G>T		.	.	.	.	.	.	.	.	.	.	G	15.76	2.929712	0.52759	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.18	1.12	0.20585	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.39341	N	0.001399	T	0.66587	0.2804	.	.	.	0.40804	D	0.98336	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.992;0.99	T	0.69647	-0.5089	9	0.72032	D	0.01	.	12.2186	0.54420	0.2089:0.0:0.7911:0.0	.	852;928;925	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	H	924;876;852;928	ENSP00000306893:Q924H;ENSP00000439733:Q876H;ENSP00000418741:Q852H;ENSP00000417628:Q928H	ENSP00000306893:Q924H	Q	+	3	2	CNTNAP4	75126962	1.000000	0.71417	0.884000	0.34674	0.966000	0.64601	1.875000	0.39578	0.083000	0.17047	-0.940000	0.02684	CAG		0.478	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		8	48	1	0	0.000274275	0.004482	0.000318342	8	48				
CENPN	55839	broad.mit.edu	37	16	81053854	81053854	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr16:81053854G>C	ENST00000305850.5	+	6	1294	c.504G>C	c.(502-504)ctG>ctC	p.L168L	CENPN_ENST00000439957.3_Silent_p.L148L|CENPN_ENST00000299572.5_Silent_p.L168L|CENPN_ENST00000393335.3_Silent_p.L168L|RP11-303E16.3_ENST00000562315.1_RNA|CMC2_ENST00000565914.1_5'UTR|CENPN_ENST00000428963.2_Silent_p.L168L	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	168					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L168L(3)|p.L148L(1)		breast(1)|large_intestine(5)|lung(4)	10						CCTCCATGCTGAGGCGCAATA	0.428																																							uc002ffx.2		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(502-504)CTG>CTC		centromere protein N isoform 2							99.0	73.0	82.0					16																	81053854		2202	4300	6502	SO:0001819	synonymous_variant	55839				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr16:81053854G>C	AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.504G>C	16.37:g.81053854G>C						CENPN_uc002ffw.3_Silent_p.L168L|CENPN_uc010vnl.1_Silent_p.L168L|CENPN_uc010vnm.1_Silent_p.L148L|CENPN_uc002ffy.3_Silent_p.L168L	p.L168L	NM_001100624	NP_001094094	Q96H22	CENPN_HUMAN			6	1294	+			168					A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Silent	SNP	ENST00000305850.5	37	c.504G>C	CCDS42200.1																																																																																				0.428	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269051.1	NM_018455		3	30	0	0	0	0.009096	0	3	30				
PLD2	5338	broad.mit.edu	37	17	4712637	4712637	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:4712637C>G	ENST00000263088.6	+	6	665	c.534C>G	c.(532-534)ttC>ttG	p.F178L	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Missense_Mutation_p.F178L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	178	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.F178L(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCATGTCTTTCTATCGCAACT	0.537																																							uc002fzc.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(532-534)TTC>TTG		phospholipase D2	Choline(DB00122)						108.0	106.0	107.0					17																	4712637		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4712637C>G	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.534C>G	17.37:g.4712637C>G	ENSP00000263088:p.Phe178Leu					PLD2_uc010vsj.1_Missense_Mutation_p.F35L|PLD2_uc002fzd.2_Missense_Mutation_p.F178L	p.F178L	NM_002663	NP_002654	O14939	PLD2_HUMAN			6	635	+			178			PX.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.534C>G	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	C	6.316	0.426416	0.11987	.	.	ENSG00000129219	ENST00000263088	T	0.38077	1.16	5.1	1.96	0.26148	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.38558	0.1045	L	0.39020	1.185	0.50467	D	0.999873	D;B;B	0.76494	0.999;0.113;0.21	D;B;B	0.79108	0.992;0.07;0.137	T	0.42599	-0.9442	10	0.02654	T	1	-30.2415	8.8094	0.34959	0.0:0.7423:0.0:0.2577	.	35;178;178	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	L	178	ENSP00000263088:F178L	ENSP00000263088:F178L	F	+	3	2	PLD2	4659601	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	0.457000	0.21875	0.731000	0.32448	0.561000	0.74099	TTC		0.537	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		16	75	0	0	0	0.007413	0	16	75				
ZNF594	84622	broad.mit.edu	37	17	5085607	5085607	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:5085607C>A	ENST00000399604.4	-	1	2085	c.1945G>T	c.(1945-1947)Gag>Tag	p.E649*	ZNF594_ENST00000575779.1_Nonsense_Mutation_p.E649*			Q96JF6	ZN594_HUMAN	zinc finger protein 594	649					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E649*(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TAGGGTTTCTCTCCAGTATGA	0.413																																							uc010cla.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1945-1947)GAG>TAG		zinc finger protein 594							94.0	102.0	99.0					17																	5085607		2191	4300	6491	SO:0001587	stop_gained	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085607C>A	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1945G>T	17.37:g.5085607C>A	ENSP00000382513:p.Glu649*						p.E649*	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	2101	-			649					Q6RFS0	Nonsense_Mutation	SNP	ENST00000399604.4	37	c.1945G>T	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	c	32	5.137470	0.94517	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	.	.	.	1.04	1.04	0.20106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.996	0.30269	0.0:1.0:0.0:0.0	.	.	.	.	X	649;244	.	ENSP00000373874:E244X	E	-	1	0	ZNF594	5026331	0.016000	0.18221	0.008000	0.14137	0.009000	0.06853	1.875000	0.39578	0.898000	0.36418	0.393000	0.25936	GAG		0.413	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		21	101	1	0	4.96729e-08	0.008871	6.97584e-08	21	101				
DNAH2	146754	broad.mit.edu	37	17	7736529	7736529	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:7736529G>A	ENST00000572933.1	+	85	14579	c.13119G>A	c.(13117-13119)aaG>aaA	p.K4373K	DNAH2_ENST00000389173.2_Silent_p.K4373K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4373					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K4373K(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCGCAAGAAGAGCGCCAAGG	0.632																																							uc002giu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(13117-13119)AAG>AAA		dynein heavy chain domain 3							34.0	35.0	34.0					17																	7736529		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7736529G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.13119G>A	17.37:g.7736529G>A							p.K4373K	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			84	13133	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4373					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.13119G>A	CCDS32551.1																																																																																				0.632	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	26	0	0	0	0.009096	0	4	26				
CHD3	1107	broad.mit.edu	37	17	7797526	7797526	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:7797526G>T	ENST00000330494.7	+	7	1168	c.1018G>T	c.(1018-1020)Ggc>Tgc	p.G340C	CHD3_ENST00000358181.4_Missense_Mutation_p.G340C|CHD3_ENST00000380358.4_Missense_Mutation_p.G399C	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	340					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G340C(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCGGCCTGATGGCCCTGTCCG	0.567																																							uc002gje.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1018-1020)GGC>TGC		chromodomain helicase DNA binding protein 3							87.0	75.0	79.0					17																	7797526		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7797526G>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1018G>T	17.37:g.7797526G>T	ENSP00000332628:p.Gly340Cys					CHD3_uc002gjd.2_Missense_Mutation_p.G399C|CHD3_uc002gjf.2_Missense_Mutation_p.G340C|CHD3_uc002gjg.1_Missense_Mutation_p.G168C	p.G340C	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			7	1168	+		Prostate(122;0.202)	340					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.1018G>T	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.515|9.515	1.106873|1.106873	0.20714|0.20714	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494|ENST00000452447	D;D;D|.	0.90444|.	-2.67;-2.6;-2.61|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.47093|.	D|.	0.000241|.	T|T	0.38374|0.38374	0.1038|0.1038	N|N	0.21373|0.21373	0.66|0.66	0.43874|0.43874	D|D	0.996481|0.996481	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.04013|.	0.001;0.001;0.001|.	T|T	0.23190|0.23190	-1.0195|-1.0195	10|5	0.36615|.	T|.	0.2|.	-6.5633|-6.5633	4.2137|4.2137	0.10524|0.10524	0.1746:0.0:0.6322:0.1932|0.1746:0.0:0.6322:0.1932	.|.	340;340;399|.	Q12873-2;Q12873;E9PG89|.	.;CHD3_HUMAN;.|.	C|L	399;340;340|210	ENSP00000369716:G399C;ENSP00000350907:G340C;ENSP00000332628:G340C|.	ENSP00000332628:G340C|.	G|W	+|+	1|2	0|0	CHD3|CHD3	7738251|7738251	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.227000|2.227000	0.42972|0.42972	2.422000|2.422000	0.82143|0.82143	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.567	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		7	19	1	0	8.12818e-05	0.001984	9.7994e-05	7	19				
MYH8	4626	broad.mit.edu	37	17	10304093	10304093	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:10304093G>A	ENST00000403437.2	-	27	3443	c.3349C>T	c.(3349-3351)Cgc>Tgc	p.R1117C	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1117					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.R1117C(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCTCAATGCGGGCCTGGGAA	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																														uc002gmm.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(3349-3351)CGC>TGC		myosin, heavy chain 8, skeletal muscle,							37.0	41.0	40.0					17																	10304093		2198	4300	6498	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304093G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3349C>T	17.37:g.10304093G>A	ENSP00000384330:p.Arg1117Cys					uc002gml.1_Intron	p.R1117C	NM_002472	NP_002463	P13535	MYH8_HUMAN			27	3444	-			1117			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3349C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416293	0.83449	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83914	-1.78	5.38	5.38	0.77491	Myosin tail (1);	0.000000	0.42548	U	0.000683	D	0.94125	0.8116	H	0.96048	3.76	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	D	0.95464	0.8545	10	0.87932	D	0	.	19.3244	0.94256	0.0:0.0:1.0:0.0	.	1117	P13535	MYH8_HUMAN	C	1117	ENSP00000384330:R1117C	ENSP00000252173:R1117C	R	-	1	0	MYH8	10244818	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.499000	0.97975	2.794000	0.96219	0.655000	0.94253	CGC		0.512	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		13	39	0	0	0	0.001855	0	13	39				
RPL23A	6147	broad.mit.edu	37	17	27050632	27050632	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:27050632T>G	ENST00000422514.2	+	4	1043	c.430T>G	c.(430-432)Tac>Gac	p.Y144D	SNORD4A_ENST00000459174.1_RNA|SNORD42A_ENST00000459584.1_RNA|SNORD42B_ENST00000458893.1_RNA|RPL23A_ENST00000394938.4_Missense_Mutation_p.Y182D|RPL23A_ENST00000472628.1_Missense_Mutation_p.Y58D|RPL23A_ENST00000496182.1_Missense_Mutation_p.Y58D|AC010761.8_ENST00000582718.1_RNA|SNORD4B_ENST00000459083.1_RNA	NM_000984.5	NP_000975.2	P62750	RL23A_HUMAN	ribosomal protein L23a	144					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.Y144D(1)		endometrium(1)|lung(3)|ovary(1)	5	Lung NSC(42;0.00431)					GGCTCCTGATTACGATGCTTT	0.512																																							uc002hci.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(430-432)TAC>GAC		ribosomal protein L23a							188.0	177.0	181.0					17																	27050632		2203	4300	6503	SO:0001583	missense	6147				cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome	g.chr17:27050632T>G	U43701	CCDS11241.1	17q11.2	2011-04-06			ENSG00000198242	ENSG00000198242		"""L ribosomal proteins"""	10317	protein-coding gene	gene with protein product		602326				9417910	Standard	NM_000984		Approved	L23A	uc002hci.3	P62750	OTTHUMG00000132684	ENST00000422514.2:c.430T>G	17.37:g.27050632T>G	ENSP00000389103:p.Tyr144Asp					RPL23A_uc002hck.1_RNA|SNORD4B_uc002hcn.1_5'Flank	p.Y144D	NM_000984	NP_000975	P62750	RL23A_HUMAN			4	454	+	Lung NSC(42;0.00431)		144					B2R5B2|P29316|P39024|Q92774	Missense_Mutation	SNP	ENST00000422514.2	37	c.430T>G	CCDS11241.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.4|24.4	4.525593|4.525593	0.85600|0.85600	.|.	.|.	ENSG00000198242|ENSG00000198242	ENST00000355731|ENST00000422514;ENST00000394938;ENST00000394935	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);Ribosomal protein L23/L25, conserved site (1);	.|0.000000	.|0.32836	.|U	.|0.005584	T|T	0.58935|0.58935	0.2157|0.2157	M|M	0.72576|0.72576	2.205|2.205	0.80722|0.80722	D|D	1|1	.|P	.|0.40083	.|0.702	.|B	.|0.38683	.|0.279	T|T	0.66212|0.66212	-0.5980|-0.5980	5|9	.|0.87932	.|D	.|0	-17.8406|-17.8406	14.3681|14.3681	0.66820|0.66820	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|144	.|P62750	.|RL23A_HUMAN	M|D	145|144;182;146	.|.	.|ENSP00000378393:Y146D	I|Y	+|+	3|1	3|0	RPL23A|RPL23A	24074759|24074759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.852000|0.852000	0.48524|0.48524	8.040000|8.040000	0.89188|0.89188	1.987000|1.987000	0.57996|0.57996	0.379000|0.379000	0.24179|0.24179	ATT|TAC		0.512	RPL23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255975.1	NM_000984		16	192	0	0	0	0.007413	0	16	192				
CPD	1362	broad.mit.edu	37	17	28773009	28773009	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:28773009G>A	ENST00000225719.4	+	12	2920	c.2844G>A	c.(2842-2844)atG>atA	p.M948I	CPD_ENST00000543464.2_Missense_Mutation_p.M701I	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	948	Carboxypeptidase-like 3.			M -> I (in Ref. 3; BAH14780). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.M948I(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GACTTGTAATGAACTATCCAC	0.363																																							uc002hfb.1		NA																	1	Substitution - Missense(1)		lung(1)	liver(1)|skin(1)	2						c.(2842-2844)ATG>ATA		carboxypeptidase D precursor							77.0	76.0	76.0					17																	28773009		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28773009G>A	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2844G>A	17.37:g.28773009G>A	ENSP00000225719:p.Met948Ile					CPD_uc010wbo.1_Missense_Mutation_p.M701I|CPD_uc010wbp.1_RNA	p.M948I	NM_001304	NP_001295	O75976	CBPD_HUMAN			12	2859	+			948			Extracellular (Potential).|Carboxypeptidase-like 3.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.2844G>A	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334276	0.24253	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.10192	2.9;2.9	5.33	5.33	0.75918	Peptidase M14, carboxypeptidase A (2);	0.054223	0.85682	D	0.000000	T	0.05044	0.0135	N	0.03608	-0.345	0.30456	N	0.77474	B;B	0.22146	0.065;0.005	B;B	0.15484	0.009;0.013	T	0.11324	-1.0592	10	0.38643	T	0.18	.	10.6957	0.45896	0.0:0.1409:0.7133:0.1458	.	701;948	F5GZH6;O75976	.;CBPD_HUMAN	I	948;701	ENSP00000225719:M948I;ENSP00000444443:M701I	ENSP00000225719:M948I	M	+	3	0	CPD	25797135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.434000	0.34958	2.669000	0.90835	0.655000	0.94253	ATG		0.363	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		14	90	0	0	0	0.003163	0	14	90				
ATAD5	79915	broad.mit.edu	37	17	29206476	29206476	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:29206476G>C	ENST00000321990.4	+	18	4426	c.4048G>C	c.(4048-4050)Gaa>Caa	p.E1350Q		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1350					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.E1350Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGGCTGCTTTGAAGAAATCAA	0.289																																							uc002hfs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4048-4050)GAA>CAA		ATPase family, AAA domain containing 5							120.0	119.0	119.0					17																	29206476		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29206476G>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4048G>C	17.37:g.29206476G>C	ENSP00000313171:p.Glu1350Gln						p.E1350Q	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			18	4394	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1350					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.4048G>C	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397108	0.83120	.	.	ENSG00000176208	ENST00000321990	T	0.18810	2.19	4.61	4.61	0.57282	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	L	0.49350	1.555	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.21415	-1.0246	10	0.45353	T	0.12	.	17.8551	0.88760	0.0:0.0:1.0:0.0	.	1350	Q96QE3	ATAD5_HUMAN	Q	1350	ENSP00000313171:E1350Q	ENSP00000313171:E1350Q	E	+	1	0	ATAD5	26230602	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.269000	0.89878	2.267000	0.75376	0.573000	0.79308	GAA		0.289	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		3	74	0	0	0	0.004672	0	3	74				
EVI2B	2124	broad.mit.edu	37	17	29632338	29632338	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:29632338G>A	ENST00000330927.4	-	2	444	c.290C>T	c.(289-291)tCt>tTt	p.S97F	EVI2B_ENST00000577894.1_Missense_Mutation_p.S97F|EVI2B_ENST00000544462.1_Missense_Mutation_p.S112F|CTD-2370N5.3_ENST00000578584.1_3'UTR|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	97						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)|p.S97F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		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;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTGTCCAGCAGAAGTATGTGC	0.478																																							uc002hgk.2		NA																	12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)		soft_tissue(7)|lung(2)|autonomic_ganglia(2)|central_nervous_system(1)	ovary(2)	2						c.(289-291)TCT>TTT		ecotropic viral integration site 2B precursor							459.0	357.0	392.0					17																	29632338		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29632338G>A		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.290C>T	17.37:g.29632338G>A	ENSP00000333779:p.Ser97Phe					NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.S112F	p.S97F	NM_006495	NP_006486	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	445	-		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)	97			Extracellular (Potential).		B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.290C>T	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797567	0.50208	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.56444	0.47;0.46	4.99	2.9	0.33743	.	0.213331	0.23132	N	0.051571	T	0.61085	0.2319	M	0.63428	1.95	0.09310	N	0.999998	D;D	0.55385	0.971;0.971	P;P	0.60473	0.875;0.875	T	0.50931	-0.8769	10	0.72032	D	0.01	-3.8706	6.3045	0.21131	0.0975:0.0:0.7223:0.1803	.	112;97	B7Z4A7;P34910	.;EVI2B_HUMAN	F	97;112	ENSP00000333779:S97F;ENSP00000439738:S112F	ENSP00000333779:S97F	S	-	2	0	EVI2B	26656464	0.695000	0.27747	0.067000	0.19924	0.369000	0.29798	4.045000	0.57368	1.042000	0.40150	0.561000	0.74099	TCT		0.478	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		33	155	0	0	0	0.003271	0	33	155				
LRRC37B	114659	broad.mit.edu	37	17	30348281	30348281	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:30348281C>G	ENST00000341671.7	+	1	121	c.116C>G	c.(115-117)tCt>tGt	p.S39C	LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000584368.1_Missense_Mutation_p.S51C|LRRC37B_ENST00000394713.3_Missense_Mutation_p.S39C|LRRC37B_ENST00000327564.7_Missense_Mutation_p.S66C	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	39						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.S39C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CAGCTGACCTCTAACCCCCTG	0.627																																							uc002hgu.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(115-117)TCT>TGT		leucine rich repeat containing 37B precursor							58.0	66.0	63.0					17																	30348281		2203	4300	6503	SO:0001583	missense	114659					integral to membrane		g.chr17:30348281C>G	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.116C>G	17.37:g.30348281C>G	ENSP00000340519:p.Ser39Cys					LRRC37B_uc010wbx.1_Intron|LRRC37B_uc010csu.2_Missense_Mutation_p.S39C	p.S39C	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			1	127	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	39			Extracellular (Potential).		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.116C>G	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	16.04	3.009517	0.54361	.	.	ENSG00000185158	ENST00000327564;ENST00000394713;ENST00000341671	D;T;D	0.81821	-1.54;-0.38;-1.5	1.93	1.93	0.25924	.	.	.	.	.	D	0.85252	0.5654	L	0.59436	1.845	0.09310	N	1	D;D	0.76494	0.996;0.999	P;D	0.77557	0.506;0.99	T	0.71902	-0.4452	9	0.87932	D	0	.	7.4125	0.27025	0.0:1.0:0.0:0.0	.	39;39	Q17RC9;Q96QE4	.;LR37B_HUMAN	C	66;39;39	ENSP00000332536:S66C;ENSP00000378202:S39C;ENSP00000340519:S39C	ENSP00000332536:S66C	S	+	2	0	LRRC37B	27372394	0.003000	0.15002	0.002000	0.10522	0.708000	0.40852	2.272000	0.43373	1.389000	0.46526	0.299000	0.19835	TCT		0.627	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		23	75	0	0	0	0.004656	0	23	75				
TMEM132E	124842	broad.mit.edu	37	17	32965202	32965202	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:32965202C>A	ENST00000321639.5	+	10	3234	c.2906C>A	c.(2905-2907)gCa>gAa	p.A969E		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	969						integral component of membrane (GO:0016021)		p.A969E(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CGGCCCACTGCACCCCCGGAC	0.677											OREG0024325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002hif.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2905-2907)GCA>GAA		transmembrane protein 132E precursor							8.0	9.0	9.0					17																	32965202		2172	4257	6429	SO:0001583	missense	124842					integral to membrane		g.chr17:32965202C>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2906C>A	17.37:g.32965202C>A	ENSP00000316532:p.Ala969Glu		OREG0024325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	836		p.A969E	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	3234	+			969			Cytoplasmic (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.2906C>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	2.926	-0.222018	0.06061	.	.	ENSG00000181291	ENST00000321639	T	0.04862	3.54	5.21	5.21	0.72293	.	0.360592	0.28538	N	0.014997	T	0.03520	0.0101	N	0.16098	0.37	0.09310	N	0.999999	B	0.14438	0.01	B	0.15870	0.014	T	0.45891	-0.9230	10	0.08599	T	0.76	-5.3424	8.9867	0.35999	0.1548:0.6746:0.1705:0.0	.	969	Q6IEE7	T132E_HUMAN	E	969	ENSP00000316532:A969E	ENSP00000316532:A969E	A	+	2	0	TMEM132E	29989315	0.004000	0.15560	0.005000	0.12908	0.966000	0.64601	1.946000	0.40283	2.711000	0.92665	0.643000	0.83706	GCA		0.677	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		4	12	1	0	0.00024832	0.009096	0.000291212	4	12				
SLFN5	162394	broad.mit.edu	37	17	33591742	33591742	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:33591742A>T	ENST00000299977.4	+	4	1827	c.1679A>T	c.(1678-1680)cAg>cTg	p.Q560L	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	560					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.Q560L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACAAATAAACAGTATGAGTTG	0.448																																							uc002hjf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1678-1680)CAG>CTG		schlafen family member 5							149.0	146.0	147.0					17																	33591742		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33591742A>T	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1679A>T	17.37:g.33591742A>T	ENSP00000299977:p.Gln560Leu					SLFN5_uc010wcg.1_Intron	p.Q560L	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	4	1796	+		Ovarian(249;0.17)	560					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.1679A>T	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	a	15.99	2.996307	0.54147	.	.	ENSG00000166750	ENST00000299977	D	0.97114	-4.25	3.28	3.28	0.37604	.	0.000000	0.37669	N	0.001996	D	0.97579	0.9207	M	0.70595	2.14	0.48288	D	0.999623	D	0.71674	0.998	D	0.75484	0.986	D	0.97280	0.9917	10	0.87932	D	0	.	8.189	0.31357	1.0:0.0:0.0:0.0	.	560	Q08AF3	SLFN5_HUMAN	L	560	ENSP00000299977:Q560L	ENSP00000299977:Q560L	Q	+	2	0	SLFN5	30615855	1.000000	0.71417	0.105000	0.21289	0.917000	0.54804	5.829000	0.69316	1.491000	0.48482	0.533000	0.62120	CAG		0.448	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		31	223	0	0	0	0.009535	0	31	223				
SLFN11	91607	broad.mit.edu	37	17	33679766	33679766	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:33679766C>A	ENST00000394566.1	-	7	2587	c.2315G>T	c.(2314-2316)gGt>gTt	p.G772V	SLFN11_ENST00000308377.4_Missense_Mutation_p.G772V	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	772					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.G772V(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCCTGAACACCCTGGGACCA	0.438																																							uc010ctp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(2314-2316)GGT>GTT		schlafen family member 11							65.0	61.0	63.0					17																	33679766		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33679766C>A	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2315G>T	17.37:g.33679766C>A	ENSP00000378067:p.Gly772Val					SLFN11_uc010ctq.2_Missense_Mutation_p.G772V|SLFN11_uc002hjh.3_Missense_Mutation_p.G772V|SLFN11_uc002hjg.3_Missense_Mutation_p.G772V|SLFN11_uc010ctr.2_Missense_Mutation_p.G772V	p.G772V	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	2757	-		Ovarian(249;0.17)	772					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.2315G>T	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	c	14.77	2.634963	0.47049	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	D;D	0.82526	-1.62;-1.62	3.85	-2.12	0.07165	.	0.276180	0.25922	N	0.027432	D	0.82495	0.5049	M	0.68593	2.085	0.18873	N	0.999981	D	0.64830	0.994	P	0.59357	0.856	T	0.72469	-0.4284	10	0.66056	D	0.02	.	0.7069	0.00917	0.1692:0.3595:0.1652:0.306	.	772	Q7Z7L1	SLN11_HUMAN	V	772	ENSP00000312402:G772V;ENSP00000378067:G772V	ENSP00000312402:G772V	G	-	2	0	SLFN11	30703879	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.540000	0.06106	-0.466000	0.06943	0.655000	0.94253	GGT		0.438	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		9	58	1	0	1.12685e-05	0.004482	1.45156e-05	9	58				
PIGW	284098	broad.mit.edu	37	17	34894341	34894341	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:34894341T>C	ENST00000592983.1	+	2	1971	c.1391T>C	c.(1390-1392)cTg>cCg	p.L464P	PIGW_ENST00000328396.2_Missense_Mutation_p.L464P|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	464					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)	p.L464P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGATCAACCTGATGGTAGAT	0.353																																							uc002hmy.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1390-1392)CTG>CCG		phosphatidylinositol glycan, class W							70.0	64.0	66.0					17																	34894341		2202	4300	6502	SO:0001583	missense	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34894341T>C	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.1391T>C	17.37:g.34894341T>C	ENSP00000468778:p.Leu464Pro					PIGW_uc002hmz.1_Missense_Mutation_p.L464P	p.L464P	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1434	+		Breast(25;0.00957)|Ovarian(249;0.17)	464			Helical; (Potential).		Q8N9G3	Missense_Mutation	SNP	ENST00000592983.1	37	c.1391T>C	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.165866	0.38217	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.77	4.69	0.59074	.	0.485346	0.20817	N	0.085129	T	0.42921	0.1224	L	0.60455	1.87	0.26575	N	0.97349	B	0.19583	0.037	B	0.15052	0.012	T	0.30268	-0.9984	8	.	.	.	-3.375	11.1375	0.48383	0.0:0.0723:0.0:0.9277	.	464	Q7Z7B1	PIGW_HUMAN	P	464	.	.	L	+	2	0	PIGW	31968454	1.000000	0.71417	0.000000	0.03702	0.916000	0.54674	4.556000	0.60775	0.998000	0.38996	0.379000	0.24179	CTG		0.353	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		3	91	0	0	0	0.004672	0	3	91				
GGNBP2	79893	broad.mit.edu	37	17	34934557	34934557	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:34934557C>T	ENST00000304718.4	+	7	1102	c.786C>T	c.(784-786)tgC>tgT	p.C262C		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	262					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.C262C(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TACATGTTTGCTGTGAAACAG	0.463																																							uc002hnb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(784-786)TGC>TGT		zinc finger protein 403							216.0	194.0	201.0					17																	34934557		2203	4300	6503	SO:0001819	synonymous_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34934557C>T	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.786C>T	17.37:g.34934557C>T						GGNBP2_uc002hna.2_Silent_p.C262C|GGNBP2_uc002hnc.1_Silent_p.C91C	p.C262C	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	7	1035	+		Breast(25;0.00957)|Ovarian(249;0.17)	262					B2RPK7|Q96T90|Q9GZR8|Q9H767	Silent	SNP	ENST00000304718.4	37	c.786C>T	CCDS11314.1																																																																																				0.463	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		22	170	0	0	0	0.00632	0	22	170				
ACACA	31	broad.mit.edu	37	17	35506835	35506835	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:35506835C>A	ENST00000394406.2	-	45	5711	c.5521G>T	c.(5521-5523)Gtt>Ttt	p.V1841F	ACACA_ENST00000360679.3_Missense_Mutation_p.V1783F|ACACA_ENST00000353139.5_Missense_Mutation_p.V1878F|ACACA_ENST00000335166.5_Missense_Mutation_p.V1763F|ACACA_ENST00000361253.5_5'UTR	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1841	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.V1878F(1)|p.V1783F(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAATTCTCAACCTGGATGGTT	0.423																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(5521-5523)GTT>TTT		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						101.0	102.0	102.0					17																	35506835		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35506835C>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5521G>T	17.37:g.35506835C>A	ENSP00000377928:p.Val1841Phe					ACACA_uc002hnk.2_Missense_Mutation_p.V1763F|ACACA_uc002hnl.2_Missense_Mutation_p.V1783F|ACACA_uc002hnn.2_Missense_Mutation_p.V1841F|ACACA_uc002hno.2_Missense_Mutation_p.V1878F|ACACA_uc010cuy.2_Missense_Mutation_p.V486F|ACACA_uc010wdc.1_5'UTR	p.V1841F	NM_198836	NP_942133	Q13085	ACACA_HUMAN			45	5712	-		Breast(25;0.00157)|Ovarian(249;0.15)	1841			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.5521G>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482994	0.96307	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84	5.95	5.95	0.96441	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99096	0.9689	M	0.87097	2.86	0.80722	D	1	D;D;D;D	0.89917	0.991;1.0;0.999;0.999	D;D;D;D	0.77004	0.937;0.989;0.988;0.979	D	0.99104	1.0844	10	0.46703	T	0.11	-20.7061	20.3854	0.98941	0.0:1.0:0.0:0.0	.	540;1878;1841;1783	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	F	1878;1783;1841;1865;1763;540	ENSP00000344789:V1878F;ENSP00000353898:V1783F;ENSP00000377928:V1841F;ENSP00000335323:V1763F	ENSP00000335323:V1763F	V	-	1	0	ACACA	32580948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.825000	0.97269	0.655000	0.94253	GTT		0.423	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		11	85	1	0	0.00010058	0.001368	0.000120616	11	85				
PLXDC1	57125	broad.mit.edu	37	17	37226111	37226111	+	Missense_Mutation	SNP	C	C	T	rs151120531		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:37226111C>T	ENST00000315392.4	-	13	1592	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.E421K	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	461					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)	p.E461K(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ACACGGACCTCGATGAAGAAG	0.622											OREG0024368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	1	0.000199681	0.0	0.0	5008	,	,		18931	0.0		0.001	False		,,,				2504	0.0						uc002hrg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(1381-1383)GAG>AAG		plexin domain containing 1 precursor		C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	89.0	77.0	81.0		1381	5.5	1.0	17	dbSNP_134	81	23,8577	16.6+/-54.9	0,23,4277	yes	missense	PLXDC1	NM_020405.4	56	0,25,6478	TT,TC,CC		0.2674,0.0454,0.1922	possibly-damaging	461/501	37226111	25,12981	2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37226111C>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1381G>A	17.37:g.37226111C>T	ENSP00000323927:p.Glu461Lys		OREG0024368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	869	uc002hre.1_Intron|uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Missense_Mutation_p.E157K|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	p.E461K	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN			13	1593	-			461			Cytoplasmic (Potential).		B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.1381G>A	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490388	0.64074	4.54E-4	0.002674	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000444911	T;T	0.23552	1.9;1.91	5.49	5.49	0.81192	.	0.216900	0.41396	D	0.000892	T	0.42675	0.1213	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.58780	0.845;0.798	T	0.09907	-1.0653	10	0.38643	T	0.18	-25.1205	16.0762	0.80969	0.0:1.0:0.0:0.0	.	421;461	B4E173;Q8IUK5	.;PXDC1_HUMAN	K	461;388;421	ENSP00000323927:E461K;ENSP00000409687:E421K	ENSP00000323927:E461K	E	-	1	0	PLXDC1	34479637	0.970000	0.33590	1.000000	0.80357	0.209000	0.24338	2.260000	0.43267	2.582000	0.87167	0.462000	0.41574	GAG		0.622	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		5	34	0	0	0	0.001168	0	5	34				
WNK4	65266	broad.mit.edu	37	17	40948569	40948569	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:40948569G>C	ENST00000246914.5	+	18	3723	c.3702G>C	c.(3700-3702)gtG>gtC	p.V1234V	CNTD1_ENST00000588408.1_5'Flank|CNTD1_ENST00000588527.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1234					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.V1222V(1)|p.V1234V(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCAAGGGGGTGACATTCGCCG	0.647																																					Esophageal Squamous(6;201 374 4964 23855 42828)	Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(3)|stomach(1)	7						c.(3700-3702)GTG>GTC		WNK lysine deficient protein kinase 4							65.0	63.0	63.0					17																	40948569		2203	4300	6503	SO:0001819	synonymous_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40948569G>C	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3702G>C	17.37:g.40948569G>C						WNK4_uc010wgx.1_Silent_p.V898V|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank	p.V1234V	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	18	3723	+		Breast(137;0.000143)	1234					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	c.3702G>C	CCDS11439.1																																																																																				0.647	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			10	56	0	0	0	0.006214	0	10	56				
GPATCH8	23131	broad.mit.edu	37	17	42475265	42475265	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:42475265G>C	ENST00000591680.1	-	8	4210	c.4180C>G	c.(4180-4182)Cac>Gac	p.H1394D	GPATCH8_ENST00000434000.1_Missense_Mutation_p.H1316D	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1394							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.H1394D(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGGTGAGGGTGAATGCCGATG	0.572																																							uc002igw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(4180-4182)CAC>GAC		G patch domain containing 8							84.0	72.0	76.0					17																	42475265		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475265G>C	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4180C>G	17.37:g.42475265G>C	ENSP00000467556:p.His1394Asp					GPATCH8_uc002igv.1_Missense_Mutation_p.H1316D|GPATCH8_uc010wiz.1_Missense_Mutation_p.H1316D	p.H1394D	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	4244	-		Prostate(33;0.0181)	1394					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.4180C>G	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.817959	0.50633	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.13538	2.58	5.04	5.04	0.67666	.	0.067922	0.64402	D	0.000015	T	0.23451	0.0567	L	0.43152	1.355	0.52099	D	0.999943	D	0.62365	0.991	P	0.58013	0.831	T	0.02829	-1.1105	10	0.10377	T	0.69	-11.9911	17.9789	0.89134	0.0:0.0:1.0:0.0	.	1394	Q9UKJ3	GPTC8_HUMAN	D	1394;1316	ENSP00000395016:H1316D	ENSP00000335486:H1394D	H	-	1	0	GPATCH8	39830791	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	9.044000	0.93805	2.334000	0.79466	0.305000	0.20034	CAC		0.572	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		8	27	0	0	0	0.006214	0	8	27				
GPATCH8	23131	broad.mit.edu	37	17	42475368	42475368	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:42475368G>C	ENST00000591680.1	-	8	4107	c.4077C>G	c.(4075-4077)atC>atG	p.I1359M	GPATCH8_ENST00000434000.1_Missense_Mutation_p.I1281M	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1359							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I1359M(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCTGAATGTGGATGGGTTGCA	0.597																																							uc002igw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(4075-4077)ATC>ATG		G patch domain containing 8							75.0	54.0	61.0					17																	42475368		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475368G>C	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4077C>G	17.37:g.42475368G>C	ENSP00000467556:p.Ile1359Met					GPATCH8_uc002igv.1_Missense_Mutation_p.I1281M|GPATCH8_uc010wiz.1_Missense_Mutation_p.I1281M	p.I1359M	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	4141	-		Prostate(33;0.0181)	1359					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.4077C>G	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097035	0.37048	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.15718	2.4	5.24	5.24	0.73138	.	0.063724	0.64402	D	0.000013	T	0.18759	0.0450	L	0.47716	1.5	0.49299	D	0.999771	P	0.41748	0.761	B	0.41571	0.36	T	0.00945	-1.1505	10	0.66056	D	0.02	-6.9089	11.905	0.52705	0.0813:0.0:0.9187:0.0	.	1359	Q9UKJ3	GPTC8_HUMAN	M	1359;1281	ENSP00000395016:I1281M	ENSP00000335486:I1359M	I	-	3	3	GPATCH8	39830894	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	2.655000	0.46707	2.449000	0.82847	0.305000	0.20034	ATC		0.597	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		6	36	0	0	0	0.001168	0	6	36				
OR4D2	124538	broad.mit.edu	37	17	56247937	56247937	+	Silent	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:56247937T>A	ENST00000545221.1	+	1	921	c.921T>A	c.(919-921)gtT>gtA	p.V307V		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V307V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACCGGCTGGTTTGAGAGTGAC	0.498																																							uc010wnp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(919-921)GTT>GTA		olfactory receptor, family 4, subfamily D,							70.0	72.0	71.0					17																	56247937		2202	4300	6502	SO:0001819	synonymous_variant	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247937T>A		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.921T>A	17.37:g.56247937T>A							p.V307V	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	921	+			307			Cytoplasmic (Potential).		Q6IFN8|Q96R75	Silent	SNP	ENST00000545221.1	37	c.921T>A	CCDS32688.1																																																																																				0.498	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			12	76	0	0	0	0.001855	0	12	76				
BZRAP1	9256	broad.mit.edu	37	17	56393883	56393883	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:56393883C>A	ENST00000343736.4	-	15	2054	c.1891G>T	c.(1891-1893)Gta>Tta	p.V631L	BZRAP1_ENST00000268893.6_Missense_Mutation_p.V571L|BZRAP1_ENST00000355701.3_Missense_Mutation_p.V631L			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	631						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.V631L(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCTCCTCTACCTCACTGGCT	0.627																																							uc002ivx.3		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|skin(1)	3						c.(1891-1893)GTA>TTA		peripheral benzodiazepine receptor-associated							38.0	34.0	35.0					17																	56393883		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56393883C>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1891G>T	17.37:g.56393883C>A	ENSP00000345824:p.Val631Leu					BZRAP1_uc010dcs.2_Missense_Mutation_p.V571L|BZRAP1_uc010wnt.1_Missense_Mutation_p.V631L	p.V631L	NM_004758	NP_004749	O95153	RIMB1_HUMAN			15	2762	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		631					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.1891G>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508009	0.64410	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	D;D;D	0.87256	-2.23;-2.23;-2.23	5.62	4.65	0.58169	.	0.123107	0.56097	D	0.000030	T	0.78342	0.4268	L	0.43923	1.385	0.27892	N	0.939286	P;P;B	0.47350	0.894;0.68;0.129	B;B;B	0.39935	0.314;0.297;0.071	T	0.70676	-0.4806	10	0.23302	T	0.38	.	6.0703	0.19885	0.0:0.7626:0.0:0.2374	.	631;571;631	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	L	631;631;571	ENSP00000347929:V631L;ENSP00000345824:V631L;ENSP00000268893:V571L	ENSP00000268893:V571L	V	-	1	0	BZRAP1	53748882	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.907000	0.56348	2.643000	0.89663	0.655000	0.94253	GTA		0.627	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		8	32	1	0	0.00307968	0.00308	0.00339969	8	32				
APPBP2	10513	broad.mit.edu	37	17	58524943	58524943	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:58524943C>T	ENST00000083182.3	-	13	2044	c.1757G>A	c.(1756-1758)tGa>tAa	p.*586*		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	0					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)	p.*586*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GGTCCTCCCTCAGCAGCTCGG	0.493																																							uc002iys.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1756-1758)TGA>TAA		amyloid beta precursor protein-binding protein							94.0	96.0	95.0					17																	58524943		2203	4300	6503	SO:0001819	synonymous_variant	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58524943C>T	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1757G>A	17.37:g.58524943C>T						APPBP2_uc010ddl.1_Silent_p.*515*	p.*586*	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		13	2045	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		586					A8K862|O95095|Q8WVC9	Silent	SNP	ENST00000083182.3	37	c.1757G>A	CCDS32699.1																																																																																				0.493	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		31	179	0	0	0	0.002096	0	31	179				
APPBP2	10513	broad.mit.edu	37	17	58524966	58524966	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:58524966C>G	ENST00000083182.3	-	13	2021	c.1734G>C	c.(1732-1734)caG>caC	p.Q578H		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	578					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)	p.Q578H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CCTCGACATTCTGAGAAATCA	0.488																																							uc002iys.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1732-1734)CAG>CAC		amyloid beta precursor protein-binding protein							127.0	128.0	127.0					17																	58524966		2203	4300	6503	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58524966C>G	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1734G>C	17.37:g.58524966C>G	ENSP00000083182:p.Gln578His					APPBP2_uc010ddl.1_Missense_Mutation_p.Q507H	p.Q578H	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		13	2022	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		578					A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.1734G>C	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966350	0.34659	.	.	ENSG00000062725	ENST00000083182	D	0.85013	-1.93	5.78	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.80783	0.4689	N	0.22421	0.69	0.58432	D	0.999999	P	0.45531	0.86	P	0.51806	0.68	T	0.78884	-0.2028	10	0.39692	T	0.17	-2.7948	7.6658	0.28430	0.0:0.723:0.1387:0.1383	.	578	Q92624	APBP2_HUMAN	H	578	ENSP00000083182:Q578H	ENSP00000083182:Q578H	Q	-	3	2	APPBP2	55879748	1.000000	0.71417	0.990000	0.47175	0.950000	0.60333	1.505000	0.35736	1.416000	0.47057	0.655000	0.94253	CAG		0.488	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		30	257	0	0	0	0.009535	0	30	257				
CEP112	201134	broad.mit.edu	37	17	63898446	63898446	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:63898446C>A	ENST00000392769.2	-	20	2205	c.1987G>T	c.(1987-1989)Gag>Tag	p.E663*	CEP112_ENST00000541355.1_Nonsense_Mutation_p.E298*|CEP112_ENST00000537949.1_Nonsense_Mutation_p.E621*|CEP112_ENST00000535342.2_Nonsense_Mutation_p.E663*	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	663					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)		p.E663*(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						AGCTTCAGCTCTACTATCTGA	0.433																																							uc002jfl.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(1987-1989)GAG>TAG		coiled-coil domain containing 46 isoform a							141.0	112.0	122.0					17																	63898446		2203	4300	6503	SO:0001587	stop_gained	201134					centrosome		g.chr17:63898446C>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1987G>T	17.37:g.63898446C>A	ENSP00000376522:p.Glu663*					CCDC46_uc010deo.2_Nonsense_Mutation_p.E405*|CCDC46_uc002jfm.2_Nonsense_Mutation_p.E663*|CCDC46_uc010dep.2_Nonsense_Mutation_p.E621*	p.E663*	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		20	2206	-			663			Potential.		Q6PIB5|Q8NCR4|Q8NFR4	Nonsense_Mutation	SNP	ENST00000392769.2	37	c.1987G>T	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	C	39	7.912275	0.98557	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-20.5925	19.7129	0.96103	0.0:1.0:0.0:0.0	.	.	.	.	X	663;663;298;621	.	ENSP00000376522:E663X	E	-	1	0	CEP112	61328908	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.695000	0.68279	2.658000	0.90341	0.650000	0.86243	GAG		0.433	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		7	37	1	0	0.00307968	0.00308	0.00339969	7	37				
ABCA10	10349	broad.mit.edu	37	17	67148553	67148553	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:67148553C>A	ENST00000269081.4	-	36	5115	c.4206G>T	c.(4204-4206)gaG>gaT	p.E1402D	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1402	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E1402D(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CAGCCTCAGCCTCTGACATGT	0.488																																							uc010dfa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(4204-4206)GAG>GAT		ATP-binding cassette, sub-family A, member 10							148.0	115.0	126.0					17																	67148553		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67148553C>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4206G>T	17.37:g.67148553C>A	ENSP00000269081:p.Glu1402Asp					ABCA10_uc002jhz.2_5'Flank|ABCA10_uc010wqs.1_Missense_Mutation_p.E394D|ABCA10_uc010wqt.1_RNA	p.E1402D	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			36	5085	-	Breast(10;6.95e-12)		1402			ABC transporter 2.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.4206G>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319686	0.60524	.	.	ENSG00000154263	ENST00000269081	D	0.99503	-6.03	3.28	1.19	0.21007	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.33938	U	0.004415	D	0.99149	0.9706	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.99;0.977	D	0.98863	1.0763	10	0.87932	D	0	.	7.033	0.24977	0.0:0.6137:0.0:0.3863	.	394;1402	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	D	1402	ENSP00000269081:E1402D	ENSP00000269081:E1402D	E	-	3	2	ABCA10	64660148	0.998000	0.40836	0.875000	0.34327	0.699000	0.40488	0.511000	0.22739	0.674000	0.31244	0.563000	0.77884	GAG		0.488	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		9	50	1	0	0.00621372	0.006214	0.00673588	9	50				
FAM104A	84923	broad.mit.edu	37	17	71223366	71223366	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:71223366G>T	ENST00000403627.3	-	2	319	c.259C>A	c.(259-261)Ctt>Att	p.L87I	FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000405159.3_Missense_Mutation_p.L87I|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000581110.1_Intron	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	87								p.L21I(1)|p.L87I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TGGGGGGGAAGATGGTTGTCT	0.428																																							uc002jji.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(259-261)CTT>ATT		hypothetical protein LOC84923 isoform 2							142.0	131.0	135.0					17																	71223366		2203	4300	6503	SO:0001583	missense	84923							g.chr17:71223366G>T	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.259C>A	17.37:g.71223366G>T	ENSP00000384648:p.Leu87Ile					FAM104A_uc002jjj.3_Missense_Mutation_p.L87I	p.L87I	NM_032837	NP_116226	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	347	-			87					B4E339	Missense_Mutation	SNP	ENST00000403627.3	37	c.259C>A	CCDS11693.2	.	.	.	.	.	.	.	.	.	.	g	12.12	1.842973	0.32606	.	.	ENSG00000133193	ENST00000403627;ENST00000405159	T;T	0.45276	0.9;0.9	5.65	3.62	0.41486	.	0.365554	0.23476	N	0.047773	T	0.22513	0.0543	N	0.16307	0.4	0.80722	D	1	B;B	0.18310	0.027;0.005	B;B	0.19391	0.025;0.004	T	0.05616	-1.0874	10	0.23891	T	0.37	.	4.6636	0.12655	0.0807:0.154:0.6054:0.1599	.	87;87	Q969W3-2;Q969W3	.;F104A_HUMAN	I	87	ENSP00000384648:L87I;ENSP00000384832:L87I	ENSP00000384648:L87I	L	-	1	0	FAM104A	68734961	0.909000	0.30893	0.997000	0.53966	0.991000	0.79684	2.163000	0.42377	0.726000	0.32339	0.454000	0.30748	CTT		0.428	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		14	116	1	0	2.31682e-05	0.003163	2.90165e-05	14	116				
QRICH2	84074	broad.mit.edu	37	17	74286109	74286109	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:74286109C>G	ENST00000262765.5	-	5	3443	c.3264G>C	c.(3262-3264)aaG>aaC	p.K1088N		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1088								p.K1088N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TGGCTAGCGTCTTTACGGTCT	0.443																																							uc002jrd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(3262-3264)AAG>AAC		glutamine rich 2							136.0	155.0	149.0					17																	74286109		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74286109C>G	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3264G>C	17.37:g.74286109C>G	ENSP00000262765:p.Lys1088Asn					QRICH2_uc010wsz.1_Missense_Mutation_p.K1014N|QRICH2_uc010dgw.1_5'UTR	p.K1088N	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			5	3444	-			1088			Potential.		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.3264G>C	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	9.802	1.180898	0.21787	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.53423	2.75;0.62	4.47	3.5	0.40072	.	.	.	.	.	T	0.51975	0.1706	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.973	T	0.31888	-0.9927	9	0.59425	D	0.04	-18.2168	7.6828	0.28524	0.0:0.8881:0.0:0.1119	.	1088;1088	B5MD94;Q9H0J4	.;QRIC2_HUMAN	N	1088;96;1088	ENSP00000262765:K1088N;ENSP00000394461:K96N	ENSP00000262765:K1088N	K	-	3	2	QRICH2	71797704	0.883000	0.30277	0.068000	0.19968	0.005000	0.04900	1.917000	0.39996	2.478000	0.83669	0.655000	0.94253	AAG		0.443	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		30	166	0	0	0	0.003755	0	30	166				
CCDC40	55036	broad.mit.edu	37	17	78022479	78022479	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:78022479G>T	ENST00000397545.4	+	5	801	c.774G>T	c.(772-774)atG>atT	p.M258I	CCDC40_ENST00000374877.3_Missense_Mutation_p.M258I|CCDC40_ENST00000269318.5_Missense_Mutation_p.M258I|CCDC40_ENST00000374876.4_Missense_Mutation_p.M258I	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	258					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.M258I(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGGGGCCATGGCAGAGAGAG	0.642																																							uc010dht.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(772-774)ATG>ATT		coiled-coil domain containing 40							72.0	93.0	86.0					17																	78022479		2034	4180	6214	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78022479G>T	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.774G>T	17.37:g.78022479G>T	ENSP00000380679:p.Met258Ile					CCDC40_uc010wub.1_Missense_Mutation_p.M258I|CCDC40_uc002jxm.3_Missense_Mutation_p.M41I	p.M258I	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		5	801	+	all_neural(118;0.167)		258					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.774G>T	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	8.520	0.868524	0.17322	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;D;T;T	0.84516	0.94;-1.86;0.94;0.97	4.06	0.86	0.19042	.	.	.	.	.	T	0.66107	0.2756	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.50533	-0.8817	9	0.21014	T	0.42	0.0039	5.6679	0.17704	0.1922:0.1619:0.6459:0.0	.	258;258;41	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	I	258	ENSP00000364011:M258I;ENSP00000269318:M258I;ENSP00000364010:M258I;ENSP00000380679:M258I	ENSP00000269318:M258I	M	+	3	0	CCDC40	75637074	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.344000	0.19962	0.005000	0.14708	0.591000	0.81541	ATG		0.642	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		6	40	1	0	0.000157383	0.00308	0.00018675	6	40				
SIRT7	51547	broad.mit.edu	37	17	79872368	79872369	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr17:79872368_79872369CC>AA	ENST00000328666.6	-	7	679_680	c.617_618GG>TT	c.(616-618)cGG>cTT	p.R206L		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	206	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)	p.R206L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CATCGAACACCCGCACGTACTC	0.634																																							uc002kcj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(616-618)CGG>CTT		sirtuin 7																																				SO:0001583	missense	51547				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	g.chr17:79872368_79872369CC>AA	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.617_618delinsAA	17.37:g.79872368_79872369delinsAA	ENSP00000329466:p.Arg206Leu					SIRT7_uc002kck.1_Missense_Mutation_p.R57L|SIRT7_uc002kcl.1_Missense_Mutation_p.R124L	p.R206L	NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	650_651	-	all_neural(118;0.0878)|Ovarian(332;0.12)		206			Deacetylase sirtuin-type.		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	DNP	ENST00000328666.6	37	c.617_618GG>TT	CCDS11792.1																																																																																				0.634	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		6	56	0	0	0	0.004672	0	6	56				
CLUL1	27098	broad.mit.edu	37	18	627251	627251	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:627251C>T	ENST00000400606.2	+	5	723	c.578C>T	c.(577-579)tCt>tTt	p.S193F	CLUL1_ENST00000540035.1_Missense_Mutation_p.S245F|CLUL1_ENST00000579494.1_Missense_Mutation_p.S193F|CLUL1_ENST00000338387.7_Missense_Mutation_p.S193F|CLUL1_ENST00000581619.1_Missense_Mutation_p.S218F	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	193					cell death (GO:0008219)	extracellular region (GO:0005576)		p.S193F(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GATGTGAATTCTCTCTTTAAC	0.408																																							uc002kkp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(577-579)TCT>TTT		clusterin-like 1 (retinal) precursor							216.0	199.0	204.0					18																	627251		1917	4144	6061	SO:0001583	missense	27098				cell death	extracellular region		g.chr18:627251C>T	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.578C>T	18.37:g.627251C>T	ENSP00000383449:p.Ser193Phe					CLUL1_uc010wys.1_Missense_Mutation_p.S245F|CLUL1_uc002kkq.2_Missense_Mutation_p.S193F	p.S193F	NM_014410	NP_055225	Q15846	CLUL1_HUMAN			5	723	+			193					A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	37	c.578C>T	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.634308	0.00806	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.23950	1.88;1.88;1.88	5.6	2.6	0.31112	Clusterin, N-terminal (1);	0.369438	0.31051	N	0.008344	T	0.08223	0.0205	N	0.03608	-0.345	0.09310	N	1	B;B	0.15141	0.01;0.012	B;B	0.17433	0.01;0.018	T	0.36456	-0.9747	10	0.07990	T	0.79	-0.7006	4.4555	0.11642	0.0:0.5246:0.165:0.3104	.	245;193	F5GWQ8;Q15846	.;CLUL1_HUMAN	F	193;245;193	ENSP00000383449:S193F;ENSP00000441726:S245F;ENSP00000341128:S193F	ENSP00000341128:S193F	S	+	2	0	CLUL1	617251	0.155000	0.22806	0.103000	0.21229	0.165000	0.22458	1.626000	0.37039	0.206000	0.20587	0.561000	0.74099	TCT		0.408	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			44	168	0	0	0	0.00361	0	44	168				
MTCL1	23255	broad.mit.edu	37	18	8785985	8785985	+	Nonsense_Mutation	SNP	G	G	T	rs531630371		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:8785985G>T	ENST00000306329.11	+	6	2863	c.2863G>T	c.(2863-2865)Gag>Tag	p.E955*	SOGA2_ENST00000400050.3_Nonsense_Mutation_p.E595*|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000359865.3_Nonsense_Mutation_p.E595*|SOGA2_ENST00000517570.1_Nonsense_Mutation_p.E595*														p.E595*(1)									CCGAGGGGACGAGCGGGAGAG	0.642																																							uc002knr.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1783-1785)GAG>TAG		hypothetical protein LOC23255							14.0	17.0	16.0					18																	8785985		2182	4260	6442	SO:0001587	stop_gained	23255							g.chr18:8785985G>T																												ENST00000306329.11:c.2863G>T	18.37:g.8785985G>T	ENSP00000305027:p.Glu955*					KIAA0802_uc002knq.2_Nonsense_Mutation_p.E595*|KIAA0802_uc010dkw.1_Nonsense_Mutation_p.E433*	p.E595*	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			7	1925	+			946						Nonsense_Mutation	SNP	ENST00000306329.11	37	c.1783G>T		.	.	.	.	.	.	.	.	.	.	G	38	7.278499	0.98182	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	.	.	.	5.54	5.54	0.83059	.	0.133205	0.34555	N	0.003870	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-24.6663	17.6605	0.88192	0.0:0.0:1.0:0.0	.	.	.	.	X	616;595;595;595	.	ENSP00000305027:E616X	E	+	1	0	CCDC165	8775985	1.000000	0.71417	0.375000	0.26029	0.343000	0.28985	6.187000	0.72039	2.606000	0.88127	0.655000	0.94253	GAG		0.642	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			8	17	1	0	0.000274275	0.004482	0.000318342	8	17				
HRH4	59340	broad.mit.edu	37	18	22057268	22057269	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:22057268_22057269GG>TT	ENST00000256906.4	+	3	1015_1016	c.915_916GG>TT	c.(913-918)ctGGcc>ctTTcc	p.A306S	HRH4_ENST00000426880.2_Missense_Mutation_p.A218S	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	306					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.A306S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	CCAAGTCACTGGCCATTCTCTT	0.436																																							uc002kvi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(913-918)CTGGCC>CTTTCC		histamine H4 receptor isoform 1	Clozapine(DB00363)																																			SO:0001583	missense	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22057268_22057269GG>TT	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	Exception_encountered	18.37:g.22057268_22057269delinsTT	ENSP00000256906:p.Ala306Ser					HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Missense_Mutation_p.A218S	p.A306S	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN			3	1015_1016	+	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		306			Helical; Name=6; (Potential).		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	DNP	ENST00000256906.4	37	c.915_916GG>TT	CCDS11887.1																																																																																				0.436	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			66	199	0	0	0	0.004672	0	66	199				
FHOD3	80206	broad.mit.edu	37	18	34335151	34335151	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:34335151C>G	ENST00000359247.4	+	21	3726	c.3726C>G	c.(3724-3726)ttC>ttG	p.F1242L	FHOD3_ENST00000445677.1_Missense_Mutation_p.F1221L|FHOD3_ENST00000591635.1_Missense_Mutation_p.F455L|FHOD3_ENST00000257209.4_Missense_Mutation_p.F1259L|FHOD3_ENST00000590592.1_Missense_Mutation_p.F1434L|FHOD3_ENST00000592128.1_Missense_Mutation_p.F238L	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1242	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.F1259L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TAAACAAATTCTGCAGGATTA	0.408																																							uc002kzt.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|breast(2)|ovary(1)	8						c.(3724-3726)TTC>TTG		formin homology 2 domain containing 3							112.0	102.0	105.0					18																	34335151		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34335151C>G	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3726C>G	18.37:g.34335151C>G	ENSP00000352186:p.Phe1242Leu					FHOD3_uc002kzs.1_Missense_Mutation_p.F1259L|FHOD3_uc010dmz.1_Missense_Mutation_p.F974L|FHOD3_uc010dnb.1_Missense_Mutation_p.F238L	p.F1242L	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN			21	3823	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1242			FH2.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.3726C>G		.	.	.	.	.	.	.	.	.	.	C	28.9	4.959396	0.92726	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.22539	1.95;1.95;1.95	6.17	6.17	0.99709	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	M	0.85373	2.75	0.80722	D	1	P;P;P;B	0.49961	0.93;0.717;0.76;0.357	P;B;B;B	0.57371	0.819;0.243;0.357;0.316	T	0.45848	-0.9233	10	0.54805	T	0.06	.	19.4575	0.94900	0.0:1.0:0.0:0.0	.	463;1221;1242;1259	E7ETX5;Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;.;FHOD3_HUMAN;.	L	1259;1242;1221	ENSP00000257209:F1259L;ENSP00000352186:F1242L;ENSP00000411430:F1221L	ENSP00000257209:F1259L	F	+	3	2	FHOD3	32589149	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.929000	0.63455	2.941000	0.99782	0.655000	0.94253	TTC		0.408	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		11	21	0	0	0	0.001368	0	11	21				
TPGS2	25941	broad.mit.edu	37	18	34378463	34378463	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:34378463C>A	ENST00000334295.4	-	6	1033	c.606G>T	c.(604-606)ctG>ctT	p.L202L	TPGS2_ENST00000589049.1_Silent_p.L202L|TPGS2_ENST00000383056.3_Silent_p.L159L|TPGS2_ENST00000590842.1_Silent_p.L202L|TPGS2_ENST00000590652.1_5'UTR|TPGS2_ENST00000587129.1_Silent_p.L202L|TPGS2_ENST00000593035.1_Silent_p.L167L	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	202						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.L202L(1)									GCCACTGGGGCAGGCCCAGGT	0.498																																							uc002kzw.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(604-606)CTG>CTT		tubulin polyglutamylase complex subunit 2							128.0	126.0	127.0					18																	34378463		2203	4300	6503	SO:0001819	synonymous_variant	25941					cytoplasm|microtubule		g.chr18:34378463C>A	BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779			24561	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 10"""	C18orf10		12477932	Standard	NM_015476		Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000334295.4:c.606G>T	18.37:g.34378463C>A						C18orf10_uc002kzv.1_Silent_p.L202L|C18orf10_uc010xci.1_Silent_p.L167L|C18orf10_uc002kzx.1_Silent_p.L159L|C18orf10_uc002kzy.3_Silent_p.L202L	p.L202L	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN			6	1034	-			202					B4DIX2|K7EIJ9|Q4KN59|Q8WTU3|Q96BT9|Q9Y435	Silent	SNP	ENST00000334295.4	37	c.606G>T	CCDS32817.1																																																																																				0.498	TPGS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440410.2	NM_015476		34	99	1	0	5.91797e-21	0.002445	9.93294e-21	34	99				
WDR7	23335	broad.mit.edu	37	18	54358458	54358458	+	Silent	SNP	C	C	T	rs143311376	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:54358458C>T	ENST00000254442.3	+	8	940	c.729C>T	c.(727-729)gcC>gcT	p.A243A	WDR7_ENST00000357574.3_Silent_p.A243A|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	243					hematopoietic progenitor cell differentiation (GO:0002244)			p.A243A(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGTTCGATGCCGGAGACTATT	0.403																																							uc002lgk.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(727-729)GCC>GCT		rabconnectin-3 beta isoform 1		C	,	0,4406		0,0,2203	122.0	131.0	128.0		729,729	-0.2	1.0	18	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	WDR7	NM_015285.2,NM_052834.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	243/1491,243/1458	54358458	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54358458C>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.729C>T	18.37:g.54358458C>T						WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.A243A	p.A243A	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	8	940	+			243					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.729C>T	CCDS11962.1																																																																																				0.403	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			28	126	0	0	0	0.00632	0	28	126				
CDH20	28316	broad.mit.edu	37	18	59221445	59221445	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:59221445C>A	ENST00000262717.4	+	12	2321	c.1923C>A	c.(1921-1923)tcC>tcA	p.S641S	CDH20_ENST00000536675.2_Silent_p.S641S|CDH20_ENST00000538374.1_Silent_p.S641S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	641					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S641S(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCATTTTGTCCATGAGGCGGC	0.537																																							uc010dps.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(1921-1923)TCC>TCA		cadherin 20, type 2 preproprotein							91.0	80.0	84.0					18																	59221445		2203	4300	6503	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59221445C>A	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1923C>A	18.37:g.59221445C>A						CDH20_uc002lif.2_Silent_p.S635S	p.S641S	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			11	1935	+		Colorectal(73;0.186)	641			Cytoplasmic (Potential).		Q495S3	Silent	SNP	ENST00000262717.4	37	c.1923C>A	CCDS11977.1																																																																																				0.537	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		21	82	1	0	2.37509e-13	0.010504	3.76265e-13	21	82				
CDH7	1005	broad.mit.edu	37	18	63489352	63489352	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr18:63489352G>C	ENST00000397968.2	+	5	1087	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	CDH7_ENST00000536984.2_Missense_Mutation_p.E221Q|CDH7_ENST00000323011.3_Missense_Mutation_p.E221Q	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E221Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CATGGATAGAGAGGCTAAAGA	0.398																																							uc002ljz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(661-663)GAG>CAG		cadherin 7, type 2 preproprotein							131.0	104.0	113.0					18																	63489352		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63489352G>C	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.661G>C	18.37:g.63489352G>C	ENSP00000381058:p.Glu221Gln					CDH7_uc002lka.2_Missense_Mutation_p.E221Q|CDH7_uc002lkb.2_Missense_Mutation_p.E221Q	p.E221Q	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			5	986	+		Esophageal squamous(42;0.129)	221			Extracellular (Potential).|Cadherin 2.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.661G>C	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687893	0.88639	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.72942	-0.7;-0.7;-0.7	5.01	5.01	0.66863	Cadherin (4);Cadherin-like (1);	0.056155	0.64402	D	0.000003	D	0.86936	0.6053	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.97	D	0.89538	0.3790	10	0.87932	D	0	.	18.69	0.91580	0.0:0.0:1.0:0.0	.	221;221	F5H5X9;Q9ULB5	.;CADH7_HUMAN	Q	221	ENSP00000319166:E221Q;ENSP00000443030:E221Q;ENSP00000381058:E221Q	ENSP00000319166:E221Q	E	+	1	0	CDH7	61640332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.256000	0.95535	2.473000	0.83533	0.591000	0.81541	GAG		0.398	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		8	24	0	0	0	0.00308	0	8	24				
REEP6	92840	broad.mit.edu	37	19	1495329	1495329	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:1495329G>T	ENST00000233596.3	+	2	256	c.152G>T	c.(151-153)gGc>gTc	p.G51V		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	51					regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G51V(1)|p.R118R(1)		lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGTTCGGCTACGGAGCG	0.652																																							uc002ltc.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(151-153)GGC>GTC		receptor accessory protein 6							115.0	101.0	106.0					19																	1495329		2201	4299	6500	SO:0001583	missense	92840					integral to membrane		g.chr19:1495329G>T	BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"""Receptor accessory proteins"""	30078	protein-coding gene	gene with protein product	"""polyposis locus protein 1-like 1"", ""deleted in polyposis 1-like 1"""	609346	"""chromosome 19 open reading frame 32"""	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072	ENST00000233596.3:c.152G>T	19.37:g.1495329G>T	ENSP00000233596:p.Gly51Val					REEP6_uc010xgp.1_Missense_Mutation_p.G51V	p.G51V	NM_138393	NP_612402	Q96HR9	REEP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	256	+		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	51			Helical; (Potential).		B2RE01|D6W5Z0|Q96LM0	Missense_Mutation	SNP	ENST00000233596.3	37	c.152G>T	CCDS12070.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039220	0.55003	.	.	ENSG00000115255	ENST00000233596;ENST00000395479	T	0.60040	0.22	4.61	4.61	0.57282	.	.	.	.	.	T	0.81866	0.4913	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87261	0.2279	9	0.72032	D	0.01	-9.0609	16.0473	0.80727	0.0:0.0:1.0:0.0	.	51;51	B4DF39;Q96HR9	.;REEP6_HUMAN	V	51	ENSP00000233596:G51V	ENSP00000233596:G51V	G	+	2	0	REEP6	1446329	1.000000	0.71417	0.973000	0.42090	0.018000	0.09664	9.430000	0.97488	2.116000	0.64780	0.651000	0.88453	GGC		0.652	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1	NM_138393		13	52	1	0	2.35188e-11	0.006122	3.58741e-11	13	52				
SAFB2	9667	broad.mit.edu	37	19	5592837	5592837	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:5592837C>G	ENST00000252542.4	-	16	2533	c.2269G>C	c.(2269-2271)Gac>Cac	p.D757H		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	757	Arg-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D757H(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CGGGGAAAGTCTGCACGATAT	0.512																																					Ovarian(127;888 1728 23957 44128 52668)	Ovarian(127;888 1728 23957 44128 52668)	uc002mcd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2269-2271)GAC>CAC		scaffold attachment factor B2							158.0	120.0	133.0					19																	5592837		2203	4300	6503	SO:0001583	missense	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5592837C>G	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2269G>C	19.37:g.5592837C>G	ENSP00000252542:p.Asp757His						p.D757H	NM_014649	NP_055464	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	16	2481	-			757			Arg-rich.|Interacts with SAFB1.		B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	c.2269G>C	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677820	0.29783	.	.	ENSG00000130254	ENST00000252542	T	0.13420	2.59	4.7	4.7	0.59300	.	0.222293	0.31450	N	0.007625	T	0.33177	0.0854	M	0.72118	2.19	0.58432	D	0.999994	D	0.65815	0.995	P	0.57371	0.819	T	0.17837	-1.0356	10	0.87932	D	0	-20.5921	17.64	0.88133	0.0:1.0:0.0:0.0	.	757	Q14151	SAFB2_HUMAN	H	757	ENSP00000252542:D757H	ENSP00000252542:D757H	D	-	1	0	SAFB2	5543837	0.987000	0.35691	0.887000	0.34795	0.038000	0.13279	3.210000	0.51129	2.152000	0.67230	0.561000	0.74099	GAC		0.512	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		3	37	0	0	0	0.004672	0	3	37				
MLLT1	4298	broad.mit.edu	37	19	6222228	6222228	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:6222228C>A	ENST00000252674.7	-	6	1177	c.1014G>T	c.(1012-1014)ggG>ggT	p.G338G		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	338					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)	p.G338G(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TCACCTTCTCCCCTCTGGTGC	0.647			T	MLL	AL																																		uc002mek.2		NA		Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1012-1014)GGG>GGT		myeloid/lymphoid or mixed-lineage leukemia							47.0	44.0	45.0					19																	6222228		2199	4300	6499	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6222228C>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1014G>T	19.37:g.6222228C>A							p.G338G	NM_005934	NP_005925	Q03111	ENL_HUMAN			6	1178	-			338					Q14768	Silent	SNP	ENST00000252674.7	37	c.1014G>T	CCDS12160.1																																																																																				0.647	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		4	24	1	0	0.00909568	0.009096	0.00978951	4	24				
SH2D3A	10045	broad.mit.edu	37	19	6754663	6754663	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:6754663G>C	ENST00000245908.6	-	6	1330	c.1061C>G	c.(1060-1062)cCc>cGc	p.P354R	SH2D3A_ENST00000437152.3_Missense_Mutation_p.P232R|SH2D3A_ENST00000599563.1_5'Flank	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	354					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.P354R(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GTGTCCATGGGGAAGAGTGAG	0.587																																							uc002mft.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1060-1062)CCC>CGC		SH2 domain containing 3A							88.0	77.0	81.0					19																	6754663		2203	4300	6503	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6754663G>C	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.1061C>G	19.37:g.6754663G>C	ENSP00000245908:p.Pro354Arg					SH2D3A_uc010xjg.1_Missense_Mutation_p.P232R	p.P354R	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN			6	1255	-			354					A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.1061C>G	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780465	0.70222	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.58358	1.49;0.34	4.45	4.45	0.53987	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.46442	D	0.000296	T	0.72260	0.3438	M	0.79475	2.455	0.49130	D	0.99975	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.982	T	0.76844	-0.2809	10	0.87932	D	0	-15.2359	14.5939	0.68392	0.0:0.0:1.0:0.0	.	232;354	B4DRS7;Q9BRG2	.;SH23A_HUMAN	R	354;232	ENSP00000245908:P354R;ENSP00000393303:P232R	ENSP00000245908:P354R	P	-	2	0	SH2D3A	6705663	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	8.715000	0.91416	2.298000	0.77334	0.462000	0.41574	CCC		0.587	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		4	47	0	0	0	0.009096	0	4	47				
EMR1	2015	broad.mit.edu	37	19	6903852	6903852	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:6903852C>T	ENST00000312053.4	+	7	730	c.693C>T	c.(691-693)atC>atT	p.I231I	EMR1_ENST00000250572.8_Silent_p.I231I|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Silent_p.I179I|EMR1_ENST00000381407.5_Silent_p.I90I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	231	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.I231I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGTGCCCCATCAATTCAACAT	0.488																																							uc002mfw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(691-693)ATC>ATT		egf-like module containing, mucin-like, hormone							140.0	128.0	132.0					19																	6903852		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6903852C>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.693C>T	19.37:g.6903852C>T						EMR1_uc010dvc.2_Silent_p.I231I|EMR1_uc010dvb.2_Silent_p.I179I|EMR1_uc010xji.1_Silent_p.I90I|EMR1_uc010xjj.1_Intron	p.I231I	NM_001974	NP_001965	Q14246	EMR1_HUMAN			7	731	+	all_hematologic(4;0.166)		231			EGF-like 5; calcium-binding (Potential).|Extracellular (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.693C>T	CCDS12175.1																																																																																				0.488	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			16	69	0	0	0	0.010504	0	16	69				
MUC16	94025	broad.mit.edu	37	19	8997117	8997118	+	Splice_Site	DNP	CC	CC	AA			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:8997117_8997118CC>AA	ENST00000397910.4	-	60	41281_41282	c.41078_41079GG>TT	c.(41077-41079)aGG>aTT	p.R13693I	MUC16_ENST00000380951.5_Splice_Site_p.R334I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13695	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.?(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAAGGTCTCACCTGAGCAAAGT	0.515																																							uc002mkp.2		NA																	2	Unknown(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.e60+1		mucin 16																																				SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8997117_8997118CC>AA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41078_41079delinsAA	19.37:g.8997117_8997118delinsAA						MUC16_uc010dwi.2_Splice_Site|MUC16_uc010dwj.2_Splice_Site_p.R510_splice|MUC16_uc010xki.1_Splice_Site	p.R13693_splice	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			60	41282	-								Q6ZQW5|Q96RK2	Splice_Site	DNP	ENST00000397910.4	37	c.41078_splice	CCDS54212.1																																																																																				0.515	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Missense_Mutation	8	54	0	0	0	0.004672	0	8	54				
MUC16	94025	broad.mit.edu	37	19	9070227	9070227	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:9070227G>C	ENST00000397910.4	-	3	17422	c.17219C>G	c.(17218-17220)tCa>tGa	p.S5740*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5742	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S5740*(2)|p.S1373*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATGTGTGTGAATCAGCTGG	0.478																																							uc002mkp.2		NA																	3	Substitution - Nonsense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(17218-17220)TCA>TGA		mucin 16							149.0	144.0	145.0					19																	9070227		2086	4210	6296	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070227G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17219C>G	19.37:g.9070227G>C	ENSP00000381008:p.Ser5740*						p.S5740*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	17423	-			5742			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.17219C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	57	27.825386	0.99972	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.73	0.669	0.17918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.1548	0.10256	0.2186:0.0:0.7814:0.0	.	.	.	.	X	5740	.	ENSP00000381008:S5740X	S	-	2	0	MUC16	8931227	0.006000	0.16342	0.001000	0.08648	0.000000	0.00434	1.788000	0.38714	0.304000	0.22809	-0.379000	0.06801	TCA		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	79	0	0	0	0.001368	0	5	79				
MUC16	94025	broad.mit.edu	37	19	9074029	9074029	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:9074029C>T	ENST00000397910.4	-	3	13620	c.13417G>A	c.(13417-13419)Ggg>Agg	p.G4473R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4475	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.G4473R(2)|p.G106R(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTATGTTGCCCTTGTAACGTG	0.507																																							uc002mkp.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(13417-13419)GGG>AGG		mucin 16							130.0	124.0	126.0					19																	9074029		2044	4181	6225	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074029C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13417G>A	19.37:g.9074029C>T	ENSP00000381008:p.Gly4473Arg						p.G4473R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	13621	-			4475			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13417G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.126	0.021607	0.08006	.	.	ENSG00000181143	ENST00000397910	T	0.21191	2.02	2.22	0.798	0.18660	.	.	.	.	.	T	0.17959	0.0431	L	0.44542	1.39	.	.	.	B	0.22541	0.071	B	0.31614	0.133	T	0.27020	-1.0086	8	0.87932	D	0	.	4.2586	0.10730	0.0:0.7019:0.0:0.2981	.	4473	B5ME49	.	R	4473	ENSP00000381008:G4473R	ENSP00000381008:G4473R	G	-	1	0	MUC16	8935029	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.166000	0.16583	0.214000	0.20742	0.313000	0.20887	GGG		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		19	87	0	0	0	0.006122	0	19	87				
OR1M1	125963	broad.mit.edu	37	19	9204347	9204347	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:9204347C>A	ENST00000429566.3	+	1	493	c.427C>A	c.(427-429)Ctg>Atg	p.L143M		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L143M(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTCTGTCGCCTGCTGGTCGG	0.587																																							uc010xkj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(427-429)CTG>ATG		olfactory receptor, family 1, subfamily M,							112.0	90.0	97.0					19																	9204347		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204347C>A		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.427C>A	19.37:g.9204347C>A	ENSP00000401966:p.Leu143Met						p.L143M	NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN			1	427	+			143			Helical; Name=4; (Potential).		B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.427C>A	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	c	14.80	2.642868	0.47153	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.00107	8.72	3.9	-2.87	0.05700	GPCR, rhodopsin-like superfamily (1);	0.325228	0.22238	N	0.062727	T	0.00300	0.0009	M	0.73430	2.235	0.09310	N	1	D	0.58970	0.984	P	0.58331	0.837	T	0.38735	-0.9647	10	0.72032	D	0.01	.	8.917	0.35587	0.0:0.5288:0.0:0.4712	.	143	Q8NGA1	OR1M1_HUMAN	M	146;143	ENSP00000401966:L143M	ENSP00000303195:L146M	L	+	1	2	OR1M1	9065347	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-1.055000	0.03493	-0.541000	0.06257	0.645000	0.84053	CTG		0.587	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			11	77	1	0	0.000978159	0.000978	0.00111244	11	77				
S1PR5	53637	broad.mit.edu	37	19	10625652	10625652	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:10625652G>A	ENST00000439028.3	-	2	161	c.36C>T	c.(34-36)agC>agT	p.S12S	S1PR5_ENST00000333430.4_Silent_p.S12S	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	12					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)	p.S12S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	CGATGACCTCGCTCACCGGCG	0.716																																							uc002mot.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(34-36)AGC>AGT		endothelial differentiation, sphingolipid							22.0	26.0	25.0					19																	10625652		2129	4154	6283	SO:0001819	synonymous_variant	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10625652G>A	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.36C>T	19.37:g.10625652G>A						S1PR5_uc002mou.1_Silent_p.S12S	p.S12S	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN			2	93	-			12			Extracellular (By similarity).		Q6NW11	Silent	SNP	ENST00000439028.3	37	c.36C>T	CCDS12240.1																																																																																				0.716	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		5	45	0	0	0	0.000602	0	5	45				
ZNF700	90592	broad.mit.edu	37	19	12060182	12060182	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:12060182G>A	ENST00000254321.5	+	4	1486	c.1343G>A	c.(1342-1344)tGt>tAt	p.C448Y	ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000482090.1_Missense_Mutation_p.C430Y	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C448Y(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CCCTATGAATGTAAGGAATGT	0.483																																							uc002msu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1342-1344)TGT>TAT		zinc finger protein 700							87.0	81.0	83.0					19																	12060182		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060182G>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1343G>A	19.37:g.12060182G>A	ENSP00000254321:p.Cys448Tyr					ZNF700_uc010xme.1_Missense_Mutation_p.C466Y|ZNF763_uc010xmf.1_Intron	p.C448Y	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			4	1469	+			448			C2H2-type 9.		B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1343G>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	14.45	2.539021	0.45176	.	.	ENSG00000196757	ENST00000254321	D	0.85088	-1.94	0.678	0.678	0.17969	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94112	0.8112	H	0.97587	4.035	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.84386	0.0552	9	0.87932	D	0	.	8.7866	0.34825	0.0:0.0:1.0:0.0	.	448	Q9H0M5	ZN700_HUMAN	Y	448	ENSP00000254321:C448Y	ENSP00000254321:C448Y	C	+	2	0	ZNF700	11921182	1.000000	0.71417	0.102000	0.21198	0.558000	0.35554	5.467000	0.66737	0.617000	0.30160	0.195000	0.17529	TGT		0.483	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		5	52	0	0	0	0.000602	0	5	52				
ZNF563	147837	broad.mit.edu	37	19	12429757	12429757	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:12429757C>A	ENST00000293725.5	-	4	1287	c.1082G>T	c.(1081-1083)gGa>gTa	p.G361V		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G361V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGGTTTCTCTCCAGTGTGAAT	0.423																																					GBM(39;623 795 5132 29510 31476)	GBM(39;623 795 5132 29510 31476)	uc002mtp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1081-1083)GGA>GTA		zinc finger protein 563							168.0	159.0	162.0					19																	12429757		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429757C>A	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1082G>T	19.37:g.12429757C>A	ENSP00000293725:p.Gly361Val						p.G361V	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN			4	1320	-			361					B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.1082G>T	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683516	0.47991	.	.	ENSG00000188868	ENST00000293725	T	0.23552	1.9	1.0	1.0	0.19881	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48607	0.1509	M	0.83223	2.63	0.51767	D	0.999939	D	0.71674	0.998	D	0.72075	0.976	T	0.54132	-0.8339	9	0.87932	D	0	.	9.5191	0.39124	0.0:1.0:0.0:0.0	.	361	Q8TA94	ZN563_HUMAN	V	361	ENSP00000293725:G361V	ENSP00000293725:G361V	G	-	2	0	ZNF563	12290757	0.005000	0.15991	0.746000	0.31095	0.349000	0.29174	1.444000	0.35068	0.840000	0.34995	0.313000	0.20887	GGA		0.423	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		27	138	1	0	1.42536e-11	0.004656	2.19641e-11	27	138				
CACNA1A	773	broad.mit.edu	37	19	13335494	13335494	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:13335494G>C	ENST00000360228.5	-	38	5717	c.5718C>G	c.(5716-5718)atC>atG	p.I1906M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.I1907M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1907					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.I1907M(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCAATCTTGATGTCCAGGG	0.592																																							uc010dze.2		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(5719-5721)ATC>ATG		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						42.0	49.0	47.0					19																	13335494		2041	4190	6231	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13335494G>C	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5718C>G	19.37:g.13335494G>C	ENSP00000353362:p.Ile1906Met					CACNA1A_uc010xnd.1_Missense_Mutation_p.I612M|CACNA1A_uc002mwx.3_Missense_Mutation_p.I612M|CACNA1A_uc010dzc.2_Missense_Mutation_p.I1432M|CACNA1A_uc002mwy.3_Missense_Mutation_p.I1906M|CACNA1A_uc002mwv.3_Missense_Mutation_p.I423M	p.I1907M	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		38	5957	-			1907			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5721C>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820581	0.32145	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.70516	-0.49	4.31	0.195	0.15151	.	0.146070	0.43260	D	0.000587	D	0.83376	0.5241	M	0.93106	3.38	0.47276	D	0.999374	D;D;D;D	0.65815	0.975;0.985;0.995;0.975	P;D;D;P	0.75484	0.872;0.94;0.986;0.872	T	0.80632	-0.1296	10	0.87932	D	0	.	5.6384	0.17550	0.1306:0.0:0.5406:0.3288	.	1907;1912;1906;1907	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	M	1906;1912;1907;1907	ENSP00000353362:I1906M	ENSP00000317661:I1907M	I	-	3	3	CACNA1A	13196494	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.390000	0.59646	0.208000	0.20626	0.305000	0.20034	ATC		0.592	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		5	17	0	0	0	0.001168	0	5	17				
PGLYRP2	114770	broad.mit.edu	37	19	15579494	15579494	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:15579494G>T	ENST00000340880.4	-	5	2191	c.1711C>A	c.(1711-1713)Cca>Aca	p.P571T	PGLYRP2_ENST00000292609.4_3'UTR	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	571					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.P571T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TCTGTGGCTGGCAGGGTCCTT	0.498																																							uc002nbf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1711-1713)CCA>ACA		peptidoglycan recognition protein 2 precursor							119.0	125.0	123.0					19																	15579494		1943	4131	6074	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15579494G>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1711C>A	19.37:g.15579494G>T	ENSP00000345968:p.Pro571Thr						p.P571T	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN			5	1844	-			571					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.1711C>A	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	G	6.748	0.506883	0.12883	.	.	ENSG00000161031	ENST00000340880	T	0.04275	3.66	3.48	1.28	0.21552	.	.	.	.	.	T	0.03520	0.0101	L	0.29908	0.895	0.09310	N	1	B	0.30068	0.267	B	0.25291	0.059	T	0.42481	-0.9449	9	0.45353	T	0.12	.	4.3554	0.11176	0.1374:0.2709:0.5917:0.0	.	571	Q96PD5	PGRP2_HUMAN	T	571	ENSP00000345968:P571T	ENSP00000345968:P571T	P	-	1	0	PGLYRP2	15440494	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.777000	0.26718	0.435000	0.26365	-0.219000	0.12488	CCA		0.498	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		18	93	1	0	4.96729e-08	0.008871	6.97584e-08	18	93				
CRLF1	9244	broad.mit.edu	37	19	18709709	18709709	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:18709709G>A	ENST00000392386.3	-	3	593	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	134					negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.P134S(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TTCTCTGGGGGCACTGGGAGA	0.647																																							uc010ebt.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(400-402)CCC>TCC		cytokine receptor-like factor 1 precursor							70.0	75.0	73.0					19																	18709709		2203	4300	6503	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18709709G>A	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.400C>T	19.37:g.18709709G>A	ENSP00000376188:p.Pro134Ser						p.P134S	NM_004750	NP_004741	O75462	CRLF1_HUMAN			3	594	-			134			Fibronectin type-III 1.		Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.400C>T	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670288	0.29693	.	.	ENSG00000006016	ENST00000392386	T	0.71698	-0.59	5.3	4.24	0.50183	Fibronectin, type III (3);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.103859	0.64402	D	0.000002	T	0.68458	0.3003	M	0.73962	2.25	0.50813	D	0.999891	P	0.35192	0.489	B	0.30179	0.112	T	0.71272	-0.4642	10	0.56958	D	0.05	-44.8509	13.8654	0.63585	0.0:0.0:0.8457:0.1543	.	134	O75462	CRLF1_HUMAN	S	134	ENSP00000376188:P134S	ENSP00000376188:P134S	P	-	1	0	CRLF1	18570709	1.000000	0.71417	0.997000	0.53966	0.159000	0.22180	7.103000	0.77014	1.203000	0.43233	0.313000	0.20887	CCC		0.647	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			9	77	0	0	0	0.008291	0	9	77				
COMP	1311	broad.mit.edu	37	19	18897083	18897083	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:18897083A>T	ENST00000222271.2	-	12	1317	c.1273T>A	c.(1273-1275)Ttt>Att	p.F425I	COMP_ENST00000542601.2_Missense_Mutation_p.F392I|COMP_ENST00000425807.1_Missense_Mutation_p.F372I	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	425					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.F425I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCTCCCACAAAGTCGTGGTCC	0.587																																							uc002nke.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1273-1275)TTT>ATT		cartilage oligomeric matrix protein precursor							68.0	68.0	68.0					19																	18897083		2203	4300	6503	SO:0001583	missense	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18897083A>T	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1273T>A	19.37:g.18897083A>T	ENSP00000222271:p.Phe425Ile					COMP_uc002nkd.2_Missense_Mutation_p.F392I|COMP_uc010xqj.1_Missense_Mutation_p.F372I	p.F425I	NM_000095	NP_000086	P49747	COMP_HUMAN			12	1309	-			425			TSP type-3 6.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.1273T>A	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873880	0.51695	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.98296	-4.85;-4.85;-4.85	4.29	1.93	0.25924	.	0.095261	0.43919	U	0.000515	D	0.93044	0.7786	N	0.14661	0.345	0.38446	D	0.946837	B;B	0.16166	0.01;0.016	B;B	0.16722	0.016;0.015	D	0.87396	0.2366	10	0.52906	T	0.07	-8.2269	4.9256	0.13892	0.4543:0.0:0.5457:0.0	.	372;425	B4DKJ3;P49747	.;COMP_HUMAN	I	392;425;372;412	ENSP00000439156:F392I;ENSP00000222271:F425I;ENSP00000403792:F372I	ENSP00000222271:F425I	F	-	1	0	COMP	18758083	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.555000	0.53727	0.522000	0.28464	0.402000	0.26972	TTT		0.587	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		6	40	0	0	0	0.001984	0	6	40				
ZNF429	353088	broad.mit.edu	37	19	21720247	21720247	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:21720247G>T	ENST00000358491.4	+	4	1600	c.1392G>T	c.(1390-1392)cgG>cgT	p.R464R	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R464R(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CTTTTAACCGGTCCTCACACC	0.388																																							uc002nqd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1390-1392)CGG>CGT		zinc finger protein 429							38.0	42.0	40.0					19																	21720247		2181	4291	6472	SO:0001819	synonymous_variant	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720247G>T	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1392G>T	19.37:g.21720247G>T						ZNF429_uc010ecu.1_Intron	p.R464R	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN			4	1529	+			464			C2H2-type 12.		A6NLV7|Q9BZE6	Silent	SNP	ENST00000358491.4	37	c.1392G>T	CCDS42537.1																																																																																				0.388	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		4	30	1	0	0.00909568	0.009096	0.00978951	4	30				
TSHZ3	57616	broad.mit.edu	37	19	31769101	31769101	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:31769101G>T	ENST00000240587.4	-	2	1925	c.1598C>A	c.(1597-1599)gCa>gAa	p.A533E		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	533					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A533E(1)|p.A350E(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTGTTGATTGCGGATGTCAC	0.507																																							uc002nsy.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1597-1599)GCA>GAA		zinc finger protein 537							143.0	142.0	142.0					19																	31769101		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769101G>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1598C>A	19.37:g.31769101G>T	ENSP00000240587:p.Ala533Glu						p.A533E	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1663	-	Esophageal squamous(110;0.226)		533					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.1598C>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586562	0.66105	.	.	ENSG00000121297	ENST00000240587	T	0.51071	0.72	5.4	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	M	0.73598	2.24	0.80722	D	1	P	0.45348	0.856	B	0.42319	0.383	T	0.62699	-0.6799	10	0.87932	D	0	-26.6888	16.0291	0.80564	0.0:0.1346:0.8654:0.0	.	533	Q63HK5	TSH3_HUMAN	E	533	ENSP00000240587:A533E	ENSP00000240587:A533E	A	-	2	0	TSHZ3	36460941	1.000000	0.71417	0.447000	0.26932	0.936000	0.57629	9.441000	0.97557	1.227000	0.43598	0.655000	0.94253	GCA		0.507	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		28	139	1	0	8.58068e-18	0.007291	1.40879e-17	28	139				
ZNF461	92283	broad.mit.edu	37	19	37130807	37130807	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:37130807C>A	ENST00000588268.1	-	6	667	c.440G>T	c.(439-441)gGc>gTc	p.G147V	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.G124V	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G20V(1)|p.G147V(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATGACAGTTGCCTTCCCAGAT	0.368																																							uc002oem.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(439-441)GGC>GTC		gonadotropin inducible transcription repressor							241.0	231.0	234.0					19																	37130807		1862	4114	5976	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37130807C>A	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.440G>T	19.37:g.37130807C>A	ENSP00000467931:p.Gly147Val					ZNF461_uc002oen.2_Missense_Mutation_p.G116V|ZNF461_uc010xtj.1_Missense_Mutation_p.G124V	p.G147V	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	668	-	Esophageal squamous(110;0.198)		147					A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.440G>T	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	C	1.329	-0.597202	0.03771	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000540605;ENST00000396892	T	0.05513	3.43	3.87	-0.746	0.11095	.	.	.	.	.	T	0.03959	0.0111	N	0.24115	0.695	0.09310	N	0.999999	B;B;B	0.17268	0.012;0.021;0.012	B;B;B	0.12156	0.005;0.007;0.007	T	0.46359	-0.9197	9	0.22109	T	0.4	.	6.1944	0.20542	0.0:0.5251:0.0:0.4749	.	124;69;147	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	V	147;124;20;82	ENSP00000353515:G124V	ENSP00000353515:G124V	G	-	2	0	ZNF461	41822647	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	-0.087000	0.11215	-0.143000	0.11334	-0.140000	0.14226	GGC		0.368	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		39	232	1	0	1.97e-11	0.002522	3.02022e-11	39	232				
ZNF790	388536	broad.mit.edu	37	19	37309614	37309614	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:37309614G>C	ENST00000356725.4	-	5	1752	c.1632C>G	c.(1630-1632)atC>atG	p.I544M	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	544					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I544M(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTGAACCCCAGATAAAAGATT	0.393																																							uc002oew.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1630-1632)ATC>ATG		zinc finger protein 790							113.0	113.0	113.0					19																	37309614		2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37309614G>C	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1632C>G	19.37:g.37309614G>C	ENSP00000349161:p.Ile544Met					uc002oev.1_Intron	p.I544M	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1751	-	Esophageal squamous(110;0.183)		544			C2H2-type 13.			Missense_Mutation	SNP	ENST00000356725.4	37	c.1632C>G	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	4.469	0.086817	0.08583	.	.	ENSG00000197863	ENST00000356725	T	0.60920	0.15	2.97	-5.17	0.02849	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44244	0.1284	N	0.17082	0.46	0.09310	N	1	P	0.50369	0.934	P	0.53401	0.725	T	0.41963	-0.9479	9	0.42905	T	0.14	.	5.2058	0.15289	0.4676:0.0:0.3991:0.1333	.	544	Q6PG37	ZN790_HUMAN	M	544	ENSP00000349161:I544M	ENSP00000349161:I544M	I	-	3	3	ZNF790	42001454	0.003000	0.15002	0.007000	0.13788	0.887000	0.51463	0.923000	0.28757	-0.749000	0.04747	-0.327000	0.08410	ATC		0.393	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		21	124	0	0	0	0.002299	0	21	124				
RYR1	6261	broad.mit.edu	37	19	38931492	38931492	+	Silent	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:38931492T>C	ENST00000359596.3	+	2	153	c.153T>C	c.(151-153)acT>acC	p.T51T	RYR1_ENST00000360985.3_Silent_p.T51T|RYR1_ENST00000355481.4_Silent_p.T51T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	51					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.T51T(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGGAGCCCACTAGCAACGCGC	0.642																																							uc002oit.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(151-153)ACT>ACC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						17.0	19.0	18.0					19																	38931492		2200	4286	6486	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38931492T>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.153T>C	19.37:g.38931492T>C						RYR1_uc002oiu.2_Silent_p.T51T	p.T51T	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	283	+	all_cancers(60;7.91e-06)		51			Cytoplasmic.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.153T>C	CCDS33011.1																																																																																				0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			3	28	0	0	0	0.009096	0	3	28				
RYR1	6261	broad.mit.edu	37	19	38976798	38976798	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:38976798G>C	ENST00000359596.3	+	34	5503	c.5503G>C	c.(5503-5505)Gag>Cag	p.E1835Q	RYR1_ENST00000360985.3_Missense_Mutation_p.E1835Q|RYR1_ENST00000355481.4_Missense_Mutation_p.E1835Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1835	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E1835Q(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGGCTCCGTGGAGTTCCAGTT	0.637																																							uc002oit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(5503-5505)GAG>CAG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						125.0	121.0	122.0					19																	38976798		2170	4262	6432	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976798G>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5503G>C	19.37:g.38976798G>C	ENSP00000352608:p.Glu1835Gln					RYR1_uc002oiu.2_Missense_Mutation_p.E1835Q	p.E1835Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5633	+	all_cancers(60;7.91e-06)		1835			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5503G>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395026	0.62066	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.75821	-0.97;-0.97;-0.97	3.7	3.7	0.42460	.	0.000000	0.64402	U	0.000004	D	0.84488	0.5483	M	0.72353	2.195	0.44918	D	0.997935	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.99	D	0.86976	0.2101	10	0.72032	D	0.01	.	15.2171	0.73277	0.0:0.0:1.0:0.0	.	1835;1835	P21817-2;P21817	.;RYR1_HUMAN	Q	1835	ENSP00000352608:E1835Q;ENSP00000347667:E1835Q;ENSP00000354254:E1835Q	ENSP00000347667:E1835Q	E	+	1	0	RYR1	43668638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.718000	0.84743	1.886000	0.54624	0.585000	0.79938	GAG		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			19	145	0	0	0	0.008871	0	19	145				
ADCK4	79934	broad.mit.edu	37	19	41211335	41211335	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:41211335C>G	ENST00000324464.3	-	6	686	c.385G>C	c.(385-387)Gac>Cac	p.D129H	ADCK4_ENST00000243583.6_Intron|RNU6-195P_ENST00000411352.1_RNA|ADCK4_ENST00000450541.1_Intron	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	129						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)	p.D129H(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GGGCTGGAGTCCAGCCCAGAA	0.582																																							uc002oor.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(385-387)GAC>CAC		aarF domain containing kinase 4 isoform a							52.0	52.0	52.0					19																	41211335		2203	4300	6503	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41211335C>G	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.385G>C	19.37:g.41211335C>G	ENSP00000315118:p.Asp129His					ADCK4_uc002ooq.1_Intron|ADCK4_uc002oos.2_Missense_Mutation_p.D129H	p.D129H	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		6	687	-			129					Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.385G>C	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	C	3.387	-0.125094	0.06795	.	.	ENSG00000123815	ENST00000324464	T	0.75367	-0.93	4.84	1.51	0.23008	.	0.492153	0.20276	N	0.095547	T	0.63165	0.2488	L	0.39898	1.24	0.80722	D	1	P	0.39311	0.667	B	0.39068	0.289	T	0.58595	-0.7609	10	0.44086	T	0.13	-9.4139	8.9486	0.35773	0.0:0.7443:0.0:0.2557	.	129	Q96D53	ADCK4_HUMAN	H	129	ENSP00000315118:D129H	ENSP00000315118:D129H	D	-	1	0	ADCK4	45903175	0.985000	0.35326	0.343000	0.25615	0.108000	0.19459	3.593000	0.54001	0.455000	0.26910	-0.258000	0.10820	GAC		0.582	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		7	48	0	0	0	0.001984	0	7	48				
CCDC97	90324	broad.mit.edu	37	19	41822729	41822729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:41822729C>T	ENST00000269967.3	+	2	609	c.487C>T	c.(487-489)Cga>Tga	p.R163*		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	163								p.R163*(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						TGCTGCCCTGCGAGAGCTGAT	0.637																																							uc002oqg.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(487-489)CGA>TGA		coiled-coil domain containing 97																																				SO:0001587	stop_gained	90324							g.chr19:41822729C>T	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.487C>T	19.37:g.41822729C>T	ENSP00000269967:p.Arg163*					CYP2F1_uc010xvw.1_Intron	p.R163*	NM_052848	NP_443080	Q96F63	CCD97_HUMAN			2	609	+			163					Q658N6|Q96IF3	Nonsense_Mutation	SNP	ENST00000269967.3	37	c.487C>T	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	C	37	6.222227	0.97390	.	.	ENSG00000142039	ENST00000269967	.	.	.	4.61	3.55	0.40652	.	0.081562	0.47852	D	0.000207	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0661	12.7367	0.57228	0.1663:0.8337:0.0:0.0	.	.	.	.	X	163	.	ENSP00000269967:R163X	R	+	1	2	CCDC97	46514569	0.999000	0.42202	0.995000	0.50966	0.995000	0.86356	2.300000	0.43620	0.897000	0.36392	0.557000	0.71058	CGA		0.637	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		8	33	0	0	0	0.008291	0	8	33				
MEGF8	1954	broad.mit.edu	37	19	42861611	42861611	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:42861611G>A	ENST00000251268.6	+	28	4886	c.4886G>A	c.(4885-4887)cGa>cAa	p.R1629Q	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1562Q	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1629					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.R1170Q(1)|p.R1629Q(1)|p.R1562Q(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACTGCCCGCCGAGGCCTGTCT	0.652																																							uc002otl.3		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(4684-4686)CGA>CAA		multiple EGF-like-domains 8							64.0	64.0	64.0					19																	42861611		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42861611G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4886G>A	19.37:g.42861611G>A	ENSP00000251268:p.Arg1629Gln					MEGF8_uc002otm.3_Missense_Mutation_p.R1170Q	p.R1562Q	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			27	5320	+		Prostate(69;0.00682)	1629			Extracellular (Potential).		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.4685G>A		.	.	.	.	.	.	.	.	.	.	g	21.8	4.207882	0.79240	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.65916	-0.18;-0.18	5.21	4.18	0.49190	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.227155	0.28388	N	0.015538	T	0.60534	0.2276	L	0.31578	0.945	0.80722	D	1	D;D	0.64830	0.994;0.991	P;P	0.53954	0.738;0.682	T	0.59685	-0.7408	10	0.38643	T	0.18	-1.3946	12.9557	0.58425	0.0799:0.0:0.9201:0.0	.	1629;1562	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	Q	1562;1629	ENSP00000334219:R1562Q;ENSP00000251268:R1629Q	ENSP00000251268:R1629Q	R	+	2	0	MEGF8	47553451	0.989000	0.36119	1.000000	0.80357	0.938000	0.57974	3.653000	0.54446	1.229000	0.43630	-0.213000	0.12676	CGA		0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		11	69	0	0	0	0.00245	0	11	69				
IRGC	56269	broad.mit.edu	37	19	44223193	44223193	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:44223193G>A	ENST00000244314.5	+	2	682	c.483G>A	c.(481-483)aaG>aaA	p.K161K		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	161	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)	p.K161K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCCAGGGCAAGAAGTTCTACT	0.667																																					Colon(189;350 2037 11447 13433 38914)	Colon(189;350 2037 11447 13433 38914)	uc002oxh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(481-483)AAG>AAA		immunity-related GTPase family, cinema							18.0	18.0	18.0					19																	44223193		2183	4273	6456	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223193G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.483G>A	19.37:g.44223193G>A							p.K161K	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	630	+		Prostate(69;0.0435)	161					Q05BR8	Silent	SNP	ENST00000244314.5	37	c.483G>A	CCDS12629.1																																																																																				0.667	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		6	19	0	0	0	0.00308	0	6	19				
PVRL2	5819	broad.mit.edu	37	19	45389236	45389236	+	Silent	SNP	G	G	A	rs201814159		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:45389236G>A	ENST00000252483.5	+	7	1239	c.1239G>A	c.(1237-1239)gcG>gcA	p.A413A	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	413					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)	p.A413A(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CCCCAAAAGCGAAGCTGGAGG	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17258	0.0		0.0	False		,,,				2504	0.0						uc002ozw.1		NA																	2	Substitution - coding silent(2)		cervix(1)|lung(1)		0						c.(1237-1239)GCG>GCA		poliovirus receptor related 2 isoform delta							82.0	102.0	95.0					19																	45389236		2160	4270	6430	SO:0001819	synonymous_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45389236G>A	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1239G>A	19.37:g.45389236G>A							p.A413A	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	7	1629	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	413			Cytoplasmic (Potential).		A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	ENST00000252483.5	37	c.1239G>A	CCDS42576.1																																																																																				0.622	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		4	58	0	0	0	0.009096	0	4	58				
SYMPK	8189	broad.mit.edu	37	19	46352129	46352129	+	Missense_Mutation	SNP	C	C	T	rs540054802		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:46352129C>T	ENST00000245934.7	-	6	549	c.305G>A	c.(304-306)cGa>cAa	p.R102Q		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	102	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R102Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTCAATGTCTCGCTTGCTGAG	0.522													C|||	1	0.000199681	0.0	0.0014	5008	,	,		24650	0.0		0.0	False		,,,				2504	0.0						uc002pdn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(304-306)CGA>CAA		symplekin							130.0	115.0	120.0					19																	46352129		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46352129C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.305G>A	19.37:g.46352129C>T	ENSP00000245934:p.Arg102Gln					SYMPK_uc002pdo.1_Missense_Mutation_p.R102Q|SYMPK_uc002pdp.1_Missense_Mutation_p.R102Q|SYMPK_uc002pdq.1_Missense_Mutation_p.R102Q	p.R102Q	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	6	550	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	102			Interaction with HSF1.		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.305G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491940	0.44352	.	.	ENSG00000125755	ENST00000245934;ENST00000340643	T	0.34072	1.38	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.061987	0.64402	D	0.000006	T	0.13756	0.0333	N	0.05124	-0.11	0.44380	D	0.997282	B;P	0.38617	0.249;0.64	B;B	0.08055	0.002;0.003	T	0.14868	-1.0457	10	0.25106	T	0.35	.	12.1353	0.53968	0.1712:0.8288:0.0:0.0	.	117;102	Q4LE61;Q92797	.;SYMPK_HUMAN	Q	102;106	ENSP00000245934:R102Q	ENSP00000245934:R102Q	R	-	2	0	SYMPK	51043969	0.957000	0.32711	1.000000	0.80357	0.854000	0.48673	3.599000	0.54045	2.710000	0.92621	0.563000	0.77884	CGA		0.522	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		21	66	0	0	0	0.002299	0	21	66				
SYMPK	8189	broad.mit.edu	37	19	46355610	46355610	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:46355610C>T	ENST00000245934.7	-	5	503	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	87	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.E87K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TTTCGCACTTCGATTGACTTG	0.542																																							uc002pdn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(259-261)GAA>AAA		symplekin							177.0	173.0	174.0					19																	46355610		2034	4186	6220	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46355610C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.259G>A	19.37:g.46355610C>T	ENSP00000245934:p.Glu87Lys					SYMPK_uc002pdo.1_Missense_Mutation_p.E87K|SYMPK_uc002pdp.1_Missense_Mutation_p.E87K|SYMPK_uc002pdq.1_Missense_Mutation_p.E87K	p.E87K	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	5	504	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	87			Interaction with HSF1.		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.259G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	32	5.115711	0.94339	.	.	ENSG00000125755	ENST00000245934;ENST00000340643	T	0.31247	1.5	4.81	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45577	0.1349	L	0.41573	1.285	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.68192	0.956;0.593	T	0.33111	-0.9881	10	0.46703	T	0.11	.	15.7636	0.78106	0.0:1.0:0.0:0.0	.	102;87	Q4LE61;Q92797	.;SYMPK_HUMAN	K	87;91	ENSP00000245934:E87K	ENSP00000245934:E87K	E	-	1	0	SYMPK	51047450	1.000000	0.71417	0.957000	0.39632	0.987000	0.75469	7.199000	0.77831	2.379000	0.81126	0.561000	0.74099	GAA		0.542	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		42	116	0	0	0	0.009718	0	42	116				
SYMPK	8189	broad.mit.edu	37	19	46355787	46355787	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:46355787C>T	ENST00000245934.7	-	4	422	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	60	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.E60K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATGATCAGCTCCTGGACCTGG	0.532																																							uc002pdn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(178-180)GAG>AAG		symplekin							126.0	118.0	121.0					19																	46355787		1946	4139	6085	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46355787C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.178G>A	19.37:g.46355787C>T	ENSP00000245934:p.Glu60Lys					SYMPK_uc002pdo.1_Missense_Mutation_p.E60K|SYMPK_uc002pdp.1_Missense_Mutation_p.E60K|SYMPK_uc002pdq.1_Missense_Mutation_p.E60K	p.E60K	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	4	423	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	60			Interaction with HSF1.		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.178G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	34	5.321279	0.95682	.	.	ENSG00000125755	ENST00000245934;ENST00000340643	T	0.33865	1.39	5.23	5.23	0.72850	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62478	0.2431	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.978	T	0.66528	-0.5901	10	0.87932	D	0	.	16.6653	0.85252	0.0:1.0:0.0:0.0	.	75;60	Q4LE61;Q92797	.;SYMPK_HUMAN	K	60;64	ENSP00000245934:E60K	ENSP00000245934:E60K	E	-	1	0	SYMPK	51047627	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.987000	0.76206	2.608000	0.88229	0.561000	0.74099	GAG		0.532	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		24	54	0	0	0	0.005443	0	24	54				
SAE1	10055	broad.mit.edu	37	19	47706943	47706943	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:47706943G>T	ENST00000270225.7	+	8	962	c.894G>T	c.(892-894)gaG>gaT	p.E298D	SAE1_ENST00000540850.1_Missense_Mutation_p.E124D|SAE1_ENST00000413379.3_Intron|SAE1_ENST00000598840.1_Missense_Mutation_p.E217D|SAE1_ENST00000392776.3_Missense_Mutation_p.R250I	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	298					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)	p.E298D(1)		endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		GCTTCTCCGAGATGGCCCCAG	0.458																																							uc002pgc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(892-894)GAG>GAT		SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;							230.0	204.0	212.0					19																	47706943		2203	4300	6503	SO:0001583	missense	10055				protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	g.chr19:47706943G>T	BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.894G>T	19.37:g.47706943G>T	ENSP00000270225:p.Glu298Asp					SAE1_uc002pgd.2_Missense_Mutation_p.R250I|SAE1_uc010ekx.2_Intron|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.E124D|SAE1_uc002pge.2_Missense_Mutation_p.E234D	p.E298D	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)	8	950	+		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	298					B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Missense_Mutation	SNP	ENST00000270225.7	37	c.894G>T	CCDS12696.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.10|18.10	3.547799|3.547799	0.65311|0.65311	.|.	.|.	ENSG00000142230|ENSG00000142230	ENST00000270225;ENST00000540850|ENST00000392776	T;T|T	0.47869|0.74526	0.83;0.83|-0.85	5.96|5.96	4.93|4.93	0.64822|0.64822	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79464|0.79464	0.4450|0.4450	M|M	0.74881|0.74881	2.28|2.28	0.52099|0.52099	D|D	0.999944|0.999944	P;B|P	0.46784|0.48503	0.884;0.041|0.911	P;B|P	0.48873|0.50896	0.593;0.013|0.653	T|T	0.81799|0.81799	-0.0767|-0.0767	10|9	0.12430|0.87932	T|D	0.62|0	.|.	10.8533|10.8533	0.46782|0.46782	0.1516:0.0:0.8484:0.0|0.1516:0.0:0.8484:0.0	.|.	124;298|250	B4DY66;Q9UBE0|F5GXX7	.;SAE1_HUMAN|.	D|I	298;124|250	ENSP00000270225:E298D;ENSP00000440955:E124D|ENSP00000440818:R250I	ENSP00000270225:E298D|ENSP00000440818:R250I	E|R	+|+	3|2	2|0	SAE1|SAE1	52398783|52398783	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.837000|3.837000	0.55820|0.55820	1.536000|1.536000	0.49237|0.49237	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.458	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	NM_005500		37	150	1	0	1.23713e-20	0.00361	2.06875e-20	37	150				
KDELR1	10945	broad.mit.edu	37	19	48892941	48892941	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:48892941T>C	ENST00000330720.2	-	3	414	c.220A>G	c.(220-222)Acg>Gcg	p.T74A	KDELR1_ENST00000597017.1_Missense_Mutation_p.T12A	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	74					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)	p.T74A(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		AACCAGACCGTGGTGAAGGAG	0.552																																							uc002pjb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(220-222)ACG>GCG		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum							138.0	105.0	116.0					19																	48892941		2203	4300	6503	SO:0001583	missense	10945				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity	g.chr19:48892941T>C	X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.220A>G	19.37:g.48892941T>C	ENSP00000329471:p.Thr74Ala					KDELR1_uc002pja.1_Missense_Mutation_p.T12A	p.T74A	NM_006801	NP_006792	P24390	ERD21_HUMAN		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)	3	415	-		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)	74			Helical; (Potential).		B2R6N4|Q54A39|Q8NBW7	Missense_Mutation	SNP	ENST00000330720.2	37	c.220A>G	CCDS12718.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450792	0.84209	.	.	ENSG00000105438	ENST00000330720	T	0.45668	0.89	3.87	3.87	0.44632	.	0.000000	0.56097	D	0.000021	T	0.66867	0.2833	M	0.88241	2.94	0.80722	D	1	D	0.57257	0.979	D	0.71656	0.974	T	0.72893	-0.4154	10	0.56958	D	0.05	.	12.1242	0.53907	0.0:0.0:0.0:1.0	.	74	P24390	ERD21_HUMAN	A	74	ENSP00000329471:T74A	ENSP00000329471:T74A	T	-	1	0	KDELR1	53584753	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.861000	0.87004	1.755000	0.51935	0.374000	0.22700	ACG		0.552	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1			12	38	0	0	0	0.00245	0	12	38				
SLC17A7	57030	broad.mit.edu	37	19	49938490	49938490	+	Silent	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:49938490A>G	ENST00000221485.3	-	3	540	c.369T>C	c.(367-369)ttT>ttC	p.F123F	SLC17A7_ENST00000543531.1_Silent_p.F111F|SLC17A7_ENST00000600601.1_Silent_p.F56F	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	123					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)	p.F123F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		AGCCCCAGAAAAAGGAGCCGT	0.512																																							uc002pnp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(367-369)TTT>TTC		solute carrier family 17, member 7							169.0	177.0	175.0					19																	49938490		2203	4300	6503	SO:0001819	synonymous_variant	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49938490A>G	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.369T>C	19.37:g.49938490A>G						SLC17A7_uc002pnq.1_Silent_p.F56F	p.F123F	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	3	541	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	123			Helical; (Potential).		B4DFR9|B4DG46|Q6PCD0	Silent	SNP	ENST00000221485.3	37	c.369T>C	CCDS12764.1																																																																																				0.512	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			35	185	0	0	0	0.004878	0	35	185				
KLK8	11202	broad.mit.edu	37	19	51499412	51499412	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:51499412C>A	ENST00000600767.1	-	7	1175	c.686G>T	c.(685-687)gGc>gTc	p.G229V	KLK8_ENST00000593490.1_3'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000391806.2_Missense_Mutation_p.G274V|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.G229V|KLK8_ENST00000347619.4_Missense_Mutation_p.G88V			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	229	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)	p.G274A(1)|p.G274V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGGGTCTGAGCCCCAGGATGT	0.567																																							uc002pur.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(685-687)GGC>GTC		kallikrein 8 isoform 1 preproprotein							137.0	122.0	127.0					19																	51499412		2203	4300	6503	SO:0001583	missense	11202				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51499412C>A	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.686G>T	19.37:g.51499412C>A	ENSP00000472016:p.Gly229Val					KLK8_uc002puq.1_Missense_Mutation_p.G274V|KLK8_uc002pus.1_Missense_Mutation_p.G88V|KLK8_uc002put.1_3'UTR|KLK8_uc002puu.1_Missense_Mutation_p.G229V|KLK9_uc002puv.1_RNA	p.G229V	NM_007196	NP_009127	O60259	KLK8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)	6	865	-		all_neural(266;0.026)	229			Peptidase S1.		Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP	ENST00000600767.1	37	c.686G>T	CCDS12813.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449178	0.84101	.	.	ENSG00000129455	ENST00000391806;ENST00000291726;ENST00000347619	D;D;D	0.95412	-3.7;-3.7;-3.7	4.66	4.66	0.58398	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.44902	D	0.000405	D	0.97723	0.9253	M	0.86097	2.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.98294	1.0515	10	0.87932	D	0	.	15.4395	0.75171	0.0:1.0:0.0:0.0	.	88;229;274	O60259-3;O60259;O60259-2	.;KLK8_HUMAN;.	V	274;229;88	ENSP00000375682:G274V;ENSP00000291726:G229V;ENSP00000341555:G88V	ENSP00000291726:G229V	G	-	2	0	KLK8	56191224	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.652000	0.74377	2.569000	0.86673	0.563000	0.77884	GGC		0.567	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196		17	90	1	0	1.5739e-10	0.004007	2.36871e-10	17	90				
SIGLEC9	27180	broad.mit.edu	37	19	51629379	51629379	+	Missense_Mutation	SNP	G	G	A	rs202208227		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:51629379G>A	ENST00000250360.3	+	3	809	c.742G>A	c.(742-744)Ggc>Agc	p.G248S	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.G248S	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	248	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.G248S(1)		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)		CCAAGGAGACGGCACAGGTAG	0.592																																							uc002pvu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(742-744)GGC>AGC		sialic acid binding Ig-like lectin 9 precursor		G	SER/GLY,SER/GLY	0,4406		0,0,2203	103.0	90.0	94.0		742,742	-0.6	0.0	19		94	3,8597		0,3,4297	yes	missense,missense	SIGLEC9	NM_001198558.1,NM_014441.2	56,56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	248/480,248/464	51629379	3,13003	2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51629379G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.742G>A	19.37:g.51629379G>A	ENSP00000250360:p.Gly248Ser					SIGLEC9_uc010yct.1_Missense_Mutation_p.G248S	p.G248S	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	3	809	+		all_neural(266;0.0529)	248			Extracellular (Potential).|Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.742G>A	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	5.791	0.330343	0.10956	0.0	3.49E-4	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.12672	2.66;2.88	3.02	-0.648	0.11464	Immunoglobulin-like (1);	1.403790	0.04939	N	0.458363	T	0.07188	0.0182	N	0.21448	0.665	0.09310	N	1	B	0.25563	0.129	B	0.19666	0.026	T	0.27536	-1.0071	10	0.02654	T	1	.	4.9555	0.14036	0.5157:0.0:0.4843:0.0	.	248	Q9Y336	SIGL9_HUMAN	S	248	ENSP00000413861:G248S;ENSP00000250360:G248S	ENSP00000250360:G248S	G	+	1	0	SIGLEC9	56321191	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.015000	0.13355	0.052000	0.16007	-0.346000	0.07831	GGC		0.592	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		4	63	0	0	0	0.000602	0	4	63				
LILRB2	10288	broad.mit.edu	37	19	54783404	54783404	+	Missense_Mutation	SNP	C	C	A	rs140970769		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:54783404C>A	ENST00000391749.4	-	5	725	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C	MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391748.1_Missense_Mutation_p.G152C|LILRB2_ENST00000391746.1_Missense_Mutation_p.G152C|LILRB2_ENST00000434421.1_Missense_Mutation_p.G36C|LILRB2_ENST00000314446.5_Missense_Mutation_p.G152C	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	152	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.G152C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGAATGAAGCCGCCAAATGCC	0.612																																							uc002qfb.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(454-456)GGC>TGC		leukocyte immunoglobulin-like receptor,							107.0	105.0	106.0					19																	54783404		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783404C>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.454G>T	19.37:g.54783404C>A	ENSP00000375629:p.Gly152Cys					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.G152C|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.G152C|LILRB2_uc010yet.1_Missense_Mutation_p.G36C|LILRB2_uc010yeu.1_RNA	p.G152C	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	720	-	Ovarian(34;0.19)		152			Extracellular (Potential).|Ig-like C2-type 2.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.454G>T	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630127	0.28978	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.03035	4.07;4.07;4.07;4.07;4.07	2.58	-1.07	0.09968	Immunoglobulin-like fold (1);	1.257560	0.05417	N	0.543472	T	0.16685	0.0401	M	0.83483	2.645	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74348	0.983;0.941;0.963	T	0.15235	-1.0444	10	0.62326	D	0.03	.	5.9211	0.19082	0.0:0.5475:0.0:0.4525	.	152;169;152	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	C	152;152;152;152;36	ENSP00000375628:G152C;ENSP00000319960:G152C;ENSP00000375629:G152C;ENSP00000375626:G152C;ENSP00000410117:G36C	ENSP00000319960:G152C	G	-	1	0	LILRB2	59475216	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.739000	0.04866	-0.145000	0.11294	-0.385000	0.06624	GGC		0.612	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			14	65	1	0	1.52009e-12	0.003163	2.36662e-12	14	65				
NLRP9	338321	broad.mit.edu	37	19	56244354	56244354	+	Silent	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:56244354T>C	ENST00000332836.2	-	2	870	c.843A>G	c.(841-843)caA>caG	p.Q281Q		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	281	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.Q281Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AATAGTGTTTTTGCATAGCCA	0.403																																							uc002qly.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(2)|breast(1)	7						c.(841-843)CAA>CAG		NLR family, pyrin domain containing 9							59.0	59.0	59.0					19																	56244354		2203	4300	6503	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56244354T>C	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.843A>G	19.37:g.56244354T>C							p.Q281Q	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	871	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	281			NACHT.		B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.843A>G	CCDS12934.1																																																																																				0.403	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		15	68	0	0	0	0.004007	0	15	68				
NLRP13	126204	broad.mit.edu	37	19	56424211	56424211	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:56424211C>T	ENST00000342929.3	-	5	971	c.972G>A	c.(970-972)gaG>gaA	p.E324E	NLRP13_ENST00000588751.1_Silent_p.E324E	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	324	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.E324E(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CATCCAAGCTCTCAGAGCGTG	0.453																																							uc010ygg.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(970-972)GAG>GAA		NACHT, leucine rich repeat and PYD containing							86.0	84.0	85.0					19																	56424211		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56424211C>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.972G>A	19.37:g.56424211C>T							p.E324E	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	997	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	324			NACHT.		Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.972G>A	CCDS33119.1																																																																																				0.453	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		14	74	0	0	0	0.001855	0	14	74				
ZNF154	7710	broad.mit.edu	37	19	58216288	58216288	+	Silent	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:58216288A>T	ENST00000512439.2	-	2	289	c.93T>A	c.(91-93)ctT>ctA	p.L31L	ZNF154_ENST00000426889.1_Silent_p.L31L|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L31L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		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;0.0257)		GAGCCTCATCAAGGAGACCCC	0.507																																							uc010euf.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(91-93)CTT>CTA		zinc finger protein 154							178.0	169.0	172.0					19																	58216288		2203	4300	6503	SO:0001819	synonymous_variant	7710					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58216288A>T	U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.93T>A	19.37:g.58216288A>T						ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_RNA	p.L31L	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	2	333	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	31			KRAB.		A7MCY3|Q8IVG7|Q8NAR0	Silent	SNP	ENST00000512439.2	37	c.93T>A	CCDS42639.1																																																																																				0.507	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2			18	94	0	0	0	0.008871	0	18	94				
A1BG	1	broad.mit.edu	37	19	58862863	58862863	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr19:58862863C>A	ENST00000263100.3	-	5	865	c.804G>T	c.(802-804)gcG>gcT	p.A268A	A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	268	Ig-like V-type 3.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A268A(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CCAGGGCCACCGCGTTCAGGT	0.632																																							uc002qsd.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(802-804)GCG>GCT		alpha 1B-glycoprotein precursor							74.0	66.0	69.0					19																	58862863		2203	4300	6503	SO:0001819	synonymous_variant	1					extracellular region		g.chr19:58862863C>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.804G>T	19.37:g.58862863C>A						NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_5'Flank	p.A268A	NM_130786	NP_570602	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	5	866	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	268			Ig-like V-type 3.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Silent	SNP	ENST00000263100.3	37	c.804G>T	CCDS12976.1																																																																																				0.632	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		11	34	1	0	6.40141e-05	0.000978	7.8539e-05	11	34				
MYT1L	23040	broad.mit.edu	37	2	1926884	1926884	+	Silent	SNP	G	G	A	rs370129180		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:1926884G>A	ENST00000399161.2	-	10	1404	c.657C>T	c.(655-657)gcC>gcT	p.A219A	MYT1L_ENST00000428368.2_Silent_p.A219A	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	219					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A219A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACTCAGTCCTGGCCCGGTAGG	0.438																																							uc002qxe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(655-657)GCC>GCT		myelin transcription factor 1-like		G		1,3893		0,1,1946	128.0	120.0	123.0		657	3.0	1.0	2		123	8,8290		0,8,4141	no	coding-synonymous	MYT1L	NM_015025.2		0,9,6087	AA,AG,GG		0.0964,0.0257,0.0738		219/1185	1926884	9,12183	1947	4149	6096	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926884G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.657C>T	2.37:g.1926884G>A						MYT1L_uc002qxd.2_Silent_p.A219A|MYT1L_uc010ewl.1_RNA	p.A219A	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1484	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	219					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.657C>T																																																																																					0.438	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		8	53	0	0	0	0.006214	0	8	53				
TSSC1	7260	broad.mit.edu	37	2	3217925	3217925	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:3217925C>A	ENST00000382125.4	-	5	703	c.511G>T	c.(511-513)Gct>Tct	p.A171S	TSSC1_ENST00000398659.4_Missense_Mutation_p.A198S|TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000443925.2_Missense_Mutation_p.A171S	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	171								p.A171S(1)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CTTACCACAGCCTGGCTCGAG	0.443																																					Colon(140;1261 1762 4183 34270 49743)	Colon(140;1261 1762 4183 34270 49743)	uc002qxj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(511-513)GCT>TCT		tumor suppressing subtransferable candidate 1							112.0	103.0	106.0					2																	3217925		2203	4300	6503	SO:0001583	missense	7260						protein binding	g.chr2:3217925C>A	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.511G>T	2.37:g.3217925C>A	ENSP00000371559:p.Ala171Ser					TSSC1_uc002qxi.2_RNA	p.A171S	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	5	704	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	171			WD 1.		D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	c.511G>T	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117785	0.56505	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000441271;ENST00000443925	T;T;T;T	0.78246	2.55;2.55;-1.16;2.57	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.107312	0.64402	D	0.000006	T	0.65739	0.2720	L	0.37750	1.13	0.50467	D	0.999874	B	0.12013	0.005	B	0.09377	0.004	T	0.59252	-0.7489	10	0.15952	T	0.53	-1.7319	11.2748	0.49161	0.1826:0.8174:0.0:0.0	.	171	Q53HC9	TSSC1_HUMAN	S	171;198;20;171	ENSP00000371559:A171S;ENSP00000381652:A198S;ENSP00000393350:A20S;ENSP00000389080:A171S	ENSP00000371559:A171S	A	-	1	0	TSSC1	3196932	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.965000	0.63708	2.465000	0.83290	0.655000	0.94253	GCT		0.443	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		7	96	1	0	2.17888e-05	0.006214	2.74029e-05	7	96				
RRM2	6241	broad.mit.edu	37	2	10263908	10263908	+	Missense_Mutation	SNP	G	G	A	rs368611962		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:10263908G>A	ENST00000304567.5	+	4	433	c.364G>A	c.(364-366)Gag>Aag	p.E122K	RRM2_ENST00000360566.2_Missense_Mutation_p.E182K|RP11-254F7.4_ENST00000607140.1_lincRNA	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	122					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.E122K(1)|p.E182K(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	CCTGAAACCCGAGGAGAGATA	0.423																																							uc002rah.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(364-366)GAG>AAG		ribonucleotide reductase M2 polypeptide isoform							98.0	106.0	104.0					2																	10263908		2203	4300	6503	SO:0001583	missense	6241				deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr2:10263908G>A		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.364G>A	2.37:g.10263908G>A	ENSP00000302955:p.Glu122Lys						p.E122K	NM_001034	NP_001025	P31350	RIR2_HUMAN		Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	4	555	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		122					B2R9B5|J3KP43|Q5WRU7	Missense_Mutation	SNP	ENST00000304567.5	37	c.364G>A	CCDS1669.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152263	0.57259	.	.	ENSG00000171848	ENST00000360566;ENST00000304567;ENST00000474701	D;D;D	0.97598	-4.45;-4.45;-4.27	5.35	5.35	0.76521	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.274240	0.46145	D	0.000307	D	0.94631	0.8269	L	0.35542	1.07	0.80722	D	1	B	0.13594	0.008	B	0.09377	0.004	D	0.91052	0.4879	10	0.52906	T	0.07	-0.8184	19.0635	0.93101	0.0:0.0:1.0:0.0	.	122	P31350	RIR2_HUMAN	K	182;122;72	ENSP00000353770:E182K;ENSP00000302955:E122K;ENSP00000419177:E72K	ENSP00000302955:E122K	E	+	1	0	RRM2	10181359	1.000000	0.71417	0.614000	0.29051	0.112000	0.19704	9.756000	0.98918	2.508000	0.84585	0.561000	0.74099	GAG		0.423	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2			12	125	0	0	0	0.001855	0	12	125				
RRM2	6241	broad.mit.edu	37	2	10264847	10264847	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:10264847G>C	ENST00000304567.5	+	5	508	c.439G>C	c.(439-441)Gag>Cag	p.E147Q	RRM2_ENST00000360566.2_Missense_Mutation_p.E207Q	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	147					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.E147Q(1)|p.E207Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	CCACTAGGTGGAGCGATTTAG	0.403																																							uc002rah.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(439-441)GAG>CAG		ribonucleotide reductase M2 polypeptide isoform							82.0	84.0	84.0					2																	10264847		2203	4300	6503	SO:0001583	missense	6241				deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr2:10264847G>C		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.439G>C	2.37:g.10264847G>C	ENSP00000302955:p.Glu147Gln						p.E147Q	NM_001034	NP_001025	P31350	RIR2_HUMAN		Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	5	630	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		147					B2R9B5|J3KP43|Q5WRU7	Missense_Mutation	SNP	ENST00000304567.5	37	c.439G>C	CCDS1669.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741329	0.69304	.	.	ENSG00000171848	ENST00000360566;ENST00000304567;ENST00000474701	D;D;D	0.97553	-4.43;-4.43;-4.43	5.08	5.08	0.68730	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.000000	0.85682	D	0.000000	D	0.96087	0.8725	M	0.75264	2.295	0.80722	D	1	P	0.37330	0.59	B	0.33960	0.173	D	0.95997	0.8990	10	0.42905	T	0.14	-4.9482	18.4826	0.90818	0.0:0.0:1.0:0.0	.	147	P31350	RIR2_HUMAN	Q	207;147;97	ENSP00000353770:E207Q;ENSP00000302955:E147Q;ENSP00000419177:E97Q	ENSP00000302955:E147Q	E	+	1	0	RRM2	10182298	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.687000	0.98667	2.357000	0.79964	0.561000	0.74099	GAG		0.403	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2			9	85	0	0	0	0.008291	0	9	85				
C2orf44	80304	broad.mit.edu	37	2	24260771	24260771	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:24260771C>T	ENST00000295148.4	-	2	1651	c.1594G>A	c.(1594-1596)Gac>Aac	p.D532N	C2orf44_ENST00000406895.3_Missense_Mutation_p.D532N	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	532								p.D532N(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTGTGGTCTGGTGTGCTG	0.483			T	ALK	NSCLC																																		uc002rep.2		NA		Dom	yes		2	2p23.3	80304		chromosome 2 open reading frame 44			E					1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1594-1596)GAC>AAC		hypothetical protein LOC80304 isoform 1							62.0	64.0	63.0					2																	24260771		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24260771C>T	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1594G>A	2.37:g.24260771C>T	ENSP00000295148:p.Asp532Asn					C2orf44_uc010eya.2_Missense_Mutation_p.D532N	p.D532N	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN			2	1725	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		532					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.1594G>A	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046038	0.36085	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.43688	0.94;0.94	5.62	3.81	0.43845	.	0.628056	0.17203	N	0.183035	T	0.23806	0.0576	N	0.16478	0.41	0.09310	N	1	B;B	0.20671	0.047;0.023	B;B	0.18263	0.021;0.016	T	0.14144	-1.0483	10	0.18710	T	0.47	-2.4738	8.4257	0.32727	0.0:0.7111:0.0:0.2889	.	532;532	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	N	532	ENSP00000295148:D532N;ENSP00000385816:D532N	ENSP00000295148:D532N	D	-	1	0	C2orf44	24114275	0.603000	0.26924	0.012000	0.15200	0.648000	0.38561	1.494000	0.35616	1.530000	0.49136	0.655000	0.94253	GAC		0.483	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		4	44	0	0	0	0.000602	0	4	44				
DRC1	92749	broad.mit.edu	37	2	26673529	26673529	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:26673529C>A	ENST00000288710.2	+	13	1743	c.1669C>A	c.(1669-1671)Cgt>Agt	p.R557S		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	557					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.R557S(1)									TCGAGCTCACCGTTTATCTTC	0.383																																							uc002rhg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1669-1671)CGT>AGT		hypothetical protein LOC92749							92.0	94.0	93.0					2																	26673529		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26673529C>A	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1669C>A	2.37:g.26673529C>A	ENSP00000288710:p.Arg557Ser						p.R557S	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			13	1743	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		557					A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.1669C>A	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	C	5.156	0.214397	0.09810	.	.	ENSG00000157856	ENST00000288710;ENST00000439066	T	0.13778	2.56	4.05	4.05	0.47172	.	1.085870	0.07014	N	0.825645	T	0.08670	0.0215	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.12041	-1.0563	10	0.09843	T	0.71	-3.0801	12.0835	0.53684	0.0:1.0:0.0:0.0	.	557	Q96MC2	CC164_HUMAN	S	557;113	ENSP00000288710:R557S	ENSP00000288710:R557S	R	+	1	0	CCDC164	26527033	0.001000	0.12720	0.006000	0.13384	0.144000	0.21451	1.018000	0.30002	2.562000	0.86427	0.585000	0.79938	CGT		0.383	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		9	97	1	0	0.000442599	0.006214	0.00050913	9	97				
PRR30	339779	broad.mit.edu	37	2	27360638	27360638	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:27360638C>A	ENST00000335524.3	-	3	1085	c.560G>T	c.(559-561)gGg>gTg	p.G187V		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		187								p.G187V(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGGGGACCCGGACCCAGT	0.647																																							uc002rjb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(559-561)GGG>GTG		hypothetical protein LOC339779							46.0	48.0	48.0					2																	27360638		2203	4300	6503	SO:0001583	missense	339779							g.chr2:27360638C>A																												ENST00000335524.3:c.560G>T	2.37:g.27360638C>A	ENSP00000335017:p.Gly187Val						p.G187V	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN			3	1140	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		187					Q86UE2	Missense_Mutation	SNP	ENST00000335524.3	37	c.560G>T	CCDS1739.1	.	.	.	.	.	.	.	.	.	.	C	5.132	0.209994	0.09757	.	.	ENSG00000186143	ENST00000335524	T	0.36157	1.27	4.67	1.74	0.24563	.	1.313100	0.05558	N	0.568593	T	0.25382	0.0617	N	0.14661	0.345	0.21553	N	0.999647	P	0.47677	0.899	P	0.45681	0.49	T	0.15235	-1.0444	10	0.37606	T	0.19	4.0303	4.2866	0.10858	0.0:0.5781:0.2063:0.2156	.	187	Q53SZ7	CB053_HUMAN	V	187	ENSP00000335017:G187V	ENSP00000335017:G187V	G	-	2	0	C2orf53	27214142	0.038000	0.19896	0.412000	0.26496	0.029000	0.11900	0.782000	0.26788	0.579000	0.29504	0.561000	0.74099	GGG		0.647	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			5	54	1	0	5.9392e-07	0.001168	8.11361e-07	5	54				
BIRC6	57448	broad.mit.edu	37	2	32640306	32640306	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:32640306G>A	ENST00000421745.2	+	10	2081	c.1947G>A	c.(1945-1947)atG>atA	p.M649I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	649					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.M649I(1)|p.M621I(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTCACAGATGAACAATATTA	0.378																																					Pancreas(94;175 1509 16028 18060 45422)	Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(1945-1947)ATG>ATA		baculoviral IAP repeat-containing 6							75.0	74.0	74.0					2																	32640306		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32640306G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.1947G>A	2.37:g.32640306G>A	ENSP00000393596:p.Met649Ile						p.M649I	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			10	2081	+	Acute lymphoblastic leukemia(172;0.155)		649					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.1947G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923009	0.52653	.	.	ENSG00000115760	ENST00000421745	T	0.74737	-0.87	5.56	5.56	0.83823	.	0.087525	0.85682	D	0.000000	T	0.64461	0.2600	N	0.24115	0.695	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.56571	-0.7957	10	0.26408	T	0.33	.	19.8856	0.96911	0.0:0.0:1.0:0.0	.	649	Q9NR09	BIRC6_HUMAN	I	649	ENSP00000393596:M649I	ENSP00000393596:M649I	M	+	3	0	BIRC6	32493810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.506000	0.97992	2.771000	0.95319	0.650000	0.86243	ATG		0.378	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		4	42	0	0	0	0.009096	0	4	42				
STRN	6801	broad.mit.edu	37	2	37096801	37096801	+	Silent	SNP	G	G	C	rs530366296	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:37096801G>C	ENST00000263918.4	-	11	1403	c.1395C>G	c.(1393-1395)ggC>ggG	p.G465G	RNU6-577P_ENST00000516947.1_RNA|STRN_ENST00000379213.2_Silent_p.G416G	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	465					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.G465G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GGGCTCGGATGCCATCAAAGT	0.383																																							uc002rpn.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1393-1395)GGC>GGG		striatin, calmodulin binding protein							139.0	109.0	119.0					2																	37096801		2203	4300	6503	SO:0001819	synonymous_variant	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37096801G>C	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1395C>G	2.37:g.37096801G>C						STRN_uc010ezx.2_Silent_p.G428G	p.G465G	NM_003162	NP_003153	O43815	STRN_HUMAN			11	1404	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	465			WD 1.		Q3KP65|Q53TQ8|Q9NP38	Silent	SNP	ENST00000263918.4	37	c.1395C>G	CCDS1784.1																																																																																				0.383	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			5	36	0	0	0	0.000602	0	5	36				
SLC8A1	6546	broad.mit.edu	37	2	40655828	40655828	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:40655828A>C	ENST00000403092.1	-	2	1626	c.1593T>G	c.(1591-1593)atT>atG	p.I531M	SLC8A1_ENST00000405269.1_Missense_Mutation_p.I531M|SLC8A1_ENST00000406785.2_Missense_Mutation_p.I531M|SLC8A1_ENST00000542024.1_Missense_Mutation_p.I531M|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I531M|SLC8A1_ENST00000405901.3_Missense_Mutation_p.I531M|SLC8A1_ENST00000332839.4_Missense_Mutation_p.I531M|SLC8A1_ENST00000408028.2_Missense_Mutation_p.I531M|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I531M|SLC8A1_ENST00000542756.1_Missense_Mutation_p.I531M			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	531	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.I531M(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATCATCAAAAATAGTTACAG	0.438																																							uc002rrx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1591-1593)ATT>ATG		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						113.0	113.0	113.0					2																	40655828		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40655828A>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1593T>G	2.37:g.40655828A>C	ENSP00000384763:p.Ile531Met					SLC8A1_uc002rry.2_Missense_Mutation_p.I531M|SLC8A1_uc002rrz.2_Missense_Mutation_p.I531M|SLC8A1_uc002rsa.2_Missense_Mutation_p.I531M|SLC8A1_uc002rsd.3_Missense_Mutation_p.I531M|SLC8A1_uc002rsb.1_Missense_Mutation_p.I531M|SLC8A1_uc010fan.1_Missense_Mutation_p.I531M|SLC8A1_uc002rsc.1_Missense_Mutation_p.I531M	p.I531M	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1617	-			531			Calx-beta 2.|Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1593T>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.456448	0.43634	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	6.17	0.94	0.19513	Na-Ca exchanger/integrin-beta4 (2);	0.041770	0.85682	D	0.000000	T	0.76263	0.3963	M	0.84082	2.675	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.885;0.998;1.0;0.999	D;D;D;D;D	0.97110	1.0;0.983;0.998;0.999;1.0	T	0.75121	-0.3429	10	0.87932	D	0	.	8.6341	0.33936	0.6448:0.0:0.3552:0.0	.	531;531;531;531;531	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	M	531	ENSP00000383886:I531M;ENSP00000440727:I531M;ENSP00000384763:I531M;ENSP00000385678:I531M;ENSP00000385188:I531M;ENSP00000385535:I531M;ENSP00000332931:I531M;ENSP00000384908:I531M;ENSP00000385811:I531M;ENSP00000443515:I531M	ENSP00000332931:I531M	I	-	3	3	SLC8A1	40509332	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.917000	0.39996	0.130000	0.18549	0.533000	0.62120	ATT		0.438	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		11	77	0	0	0	0.001855	0	11	77				
SIX2	10736	broad.mit.edu	37	2	45233412	45233412	+	Missense_Mutation	SNP	G	G	A	rs373961258		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:45233412G>A	ENST00000303077.6	-	2	1092	c.773C>T	c.(772-774)cCg>cTg	p.P258L		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	258					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P258L(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCCTGGCACCGGCACTGGCAC	0.706																																							uc002ruo.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(772-774)CCG>CTG		SIX homeobox 2		G	LEU/PRO	0,4406		0,0,2203	73.0	74.0	73.0		773	4.8	1.0	2		73	1,8599	2.2+/-6.3	0,1,4299	no	missense	SIX2	NM_016932.4	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	258/292	45233412	1,13005	2203	4300	6503	SO:0001583	missense	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45233412G>A	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.773C>T	2.37:g.45233412G>A	ENSP00000304502:p.Pro258Leu					SIX2_uc002rup.2_Missense_Mutation_p.P260L	p.P258L	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN			2	1066	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	258					Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	c.773C>T	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194518	0.38806	0.0	1.16E-4	ENSG00000170577	ENST00000303077	D	0.89196	-2.48	4.85	4.85	0.62838	.	0.061980	0.64402	D	0.000004	T	0.77329	0.4114	N	0.14661	0.345	0.80722	D	1	P;P	0.44659	0.491;0.84	B;B	0.28385	0.06;0.089	T	0.80643	-0.1291	10	0.40728	T	0.16	-20.2454	17.9609	0.89085	0.0:0.0:1.0:0.0	.	258;258	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	L	258	ENSP00000304502:P258L	ENSP00000304502:P258L	P	-	2	0	SIX2	45086916	1.000000	0.71417	0.998000	0.56505	0.735000	0.41995	7.543000	0.82106	2.224000	0.72417	0.462000	0.41574	CCG		0.706	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			6	40	0	0	0	0.001168	0	6	40				
EPCAM	4072	broad.mit.edu	37	2	47601119	47601119	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:47601119G>A	ENST00000263735.4	+	3	715	c.357G>A	c.(355-357)gtG>gtA	p.V119V	EPCAM_ENST00000405271.1_Silent_p.V147V	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	119	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.V119V(1)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GCTGGTGTGTGAACACTGCTG	0.522																																							uc002rvx.2		NA																	4	Whole gene deletion(2)|Substitution - coding silent(1)|Unknown(1)		haematopoietic_and_lymphoid_tissue(3)|lung(1)	skin(1)	1						c.(355-357)GTG>GTA		epithelial cell adhesion molecule precursor							72.0	66.0	68.0					2																	47601119		2203	4300	6503	SO:0001819	synonymous_variant	4072	Lynch_syndrome			positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47601119G>A	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.357G>A	2.37:g.47601119G>A						EPCAM_uc002rvw.2_Silent_p.V147V	p.V119V	NM_002354	NP_002345	P16422	EPCAM_HUMAN			3	715	+			119			Extracellular (Potential).|Thyroglobulin type-1.		P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Silent	SNP	ENST00000263735.4	37	c.357G>A	CCDS1833.1																																																																																				0.522	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			6	44	0	0	0	0.001168	0	6	44				
MSH2	4436	broad.mit.edu	37	2	47690262	47690262	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:47690262G>T	ENST00000233146.2	+	9	1702	c.1479G>T	c.(1477-1479)caG>caT	p.Q493H	MSH2_ENST00000543555.1_Missense_Mutation_p.Q427H|MSH2_ENST00000406134.1_Missense_Mutation_p.Q493H	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	493					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)|p.Q493H(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGAAGATGCAGTCAACATTAA	0.348			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														uc002rvy.1		NA	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	D|Mis|N|F|S	mutS homolog 2 (E. coli)			E		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		5	Whole gene deletion(2)|Unknown(2)|Substitution - Missense(1)	p.?(2)	haematopoietic_and_lymphoid_tissue(3)|lung(1)|prostate(1)	large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55						c.(1477-1479)CAG>CAT	MMR	mutS homolog 2							99.0	102.0	101.0					2																	47690262		2203	4300	6503	SO:0001583	missense	4436	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47690262G>T	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1479G>T	2.37:g.47690262G>T	ENSP00000233146:p.Gln493His					MSH2_uc010yoh.1_Missense_Mutation_p.Q427H|MSH2_uc002rvz.2_Missense_Mutation_p.Q493H|MSH2_uc010fbg.2_Missense_Mutation_p.Q303H|MSH2_uc010fbh.1_RNA|MSH2_uc010fbi.1_RNA	p.Q493H	NM_000251	NP_000242	P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	1547	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	493					B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.1479G>T	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096856	0.37048	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000422810;ENST00000413880	D;D;D	0.89196	-2.48;-2.48;-2.48	5.41	2.47	0.30058	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.053465	0.85682	N	0.000000	D	0.82582	0.5068	L	0.35723	1.085	0.48696	D	0.999692	B;B;B	0.25772	0.134;0.134;0.098	B;B;B	0.31191	0.062;0.062;0.125	T	0.72669	-0.4223	10	0.33940	T	0.23	-4.2021	9.1723	0.37089	0.3137:0.0:0.6863:0.0	.	427;493;493	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	H	493;427;493;493;493;143;279	ENSP00000233146:Q493H;ENSP00000442697:Q427H;ENSP00000384199:Q493H	ENSP00000233146:Q493H	Q	+	3	2	MSH2	47543766	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	3.584000	0.53936	0.201000	0.20466	-0.384000	0.06662	CAG		0.348	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			16	88	1	0	1.45105e-14	0.006122	2.32735e-14	16	88				
FAM161A	84140	broad.mit.edu	37	2	62067223	62067223	+	Missense_Mutation	SNP	G	G	A	rs183615774	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:62067223G>A	ENST00000405894.3	-	3	1017	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	FAM161A_ENST00000404929.1_Missense_Mutation_p.R306W	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	306					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)		p.R306W(4)|p.R197W(2)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GACCTTCTCCGTTCTTCTTTT	0.443													G|||	4	0.000798722	0.0	0.0	5008	,	,		18026	0.004		0.0	False		,,,				2504	0.0						uc010ypo.1		NA																	6	Substitution - Missense(6)		lung(3)|endometrium(3)	large_intestine(2)|ovary(1)	3						c.(916-918)CGG>TGG		hypothetical protein LOC84140							160.0	145.0	149.0					2																	62067223		1847	4094	5941	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62067223G>A		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.916C>T	2.37:g.62067223G>A	ENSP00000385893:p.Arg306Trp					FAM161A_uc002sbm.3_Missense_Mutation_p.R306W|FAM161A_uc002sbn.3_Missense_Mutation_p.R116W|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Missense_Mutation_p.R197W	p.R306W	NM_032180	NP_115556	Q3B820	F161A_HUMAN			3	1018	-			306			Potential.		B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.916C>T	CCDS42687.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	18.43	3.622647	0.66787	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.40756	1.02;1.02	5.41	4.44	0.53790	.	0.238402	0.41097	D	0.000946	T	0.69196	0.3084	M	0.86953	2.85	0.41474	D	0.988129	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76542	-0.2921	10	0.87932	D	0	-12.3539	16.5128	0.84290	0.0:0.0:0.8604:0.1396	.	306;306	Q3B820;Q3B820-3	F161A_HUMAN;.	W	306	ENSP00000385158:R306W;ENSP00000385893:R306W	ENSP00000385158:R306W	R	-	1	2	FAM161A	61920727	0.729000	0.28090	0.879000	0.34478	0.736000	0.42039	3.724000	0.54962	2.515000	0.84797	0.655000	0.94253	CGG		0.443	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		28	206	0	0	0	0.008361	0	28	206				
PLEK	5341	broad.mit.edu	37	2	68607999	68607999	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:68607999A>T	ENST00000234313.7	+	3	522	c.343A>T	c.(343-345)Agg>Tgg	p.R115W		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	115					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.R115W(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GAAATCTACCAGGAGGTCCAT	0.468																																							uc002sen.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(343-345)AGG>TGG		pleckstrin							142.0	136.0	138.0					2																	68607999		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68607999A>T	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.343A>T	2.37:g.68607999A>T	ENSP00000234313:p.Arg115Trp					PLEK_uc010fde.2_Missense_Mutation_p.R115W	p.R115W	NM_002664	NP_002655	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	3	505	+		Ovarian(717;0.0129)	115					B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.343A>T	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204365	0.79127	.	.	ENSG00000115956	ENST00000234313	T	0.24908	1.83	5.8	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.42799	-0.9430	10	0.72032	D	0.01	.	12.9251	0.58257	0.8644:0.1355:0.0:0.0	.	133;115	Q59GZ2;P08567	.;PLEK_HUMAN	W	115	ENSP00000234313:R115W	ENSP00000234313:R115W	R	+	1	2	PLEK	68461503	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	2.966000	0.49208	0.979000	0.38497	0.533000	0.62120	AGG		0.468	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		30	173	0	0	0	0.002445	0	30	173				
ZNF638	27332	broad.mit.edu	37	2	71650945	71650945	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:71650945C>G	ENST00000409544.1	+	22	4931	c.4301C>G	c.(4300-4302)gCc>gGc	p.A1434G	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Missense_Mutation_p.A374G|ZNF638_ENST00000264447.4_Missense_Mutation_p.A1434G	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1434					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A1434G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAACTTTCAGCCAAGGAATTT	0.418																																							uc002shx.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(4300-4302)GCC>GGC		zinc finger protein 638							50.0	53.0	52.0					2																	71650945		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71650945C>G	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4301C>G	2.37:g.71650945C>G	ENSP00000386433:p.Ala1434Gly					ZNF638_uc010yqw.1_Missense_Mutation_p.A1013G|ZNF638_uc002shy.2_Missense_Mutation_p.A1434G|ZNF638_uc002shz.2_Missense_Mutation_p.A1434G|ZNF638_uc002sia.2_Missense_Mutation_p.A1434G|ZNF638_uc002sib.1_Intron|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.A531G|ZNF638_uc002sid.2_Intron	p.A1434G	NM_014497	NP_055312	Q14966	ZN638_HUMAN			22	4620	+			1434					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.4301C>G	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.015040	0.35511	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.31510	1.49;1.49;1.86	5.66	4.78	0.61160	.	0.644139	0.14537	N	0.313530	T	0.19208	0.0461	N	0.19112	0.55	0.80722	D	1	B;B;P	0.39665	0.028;0.015;0.682	B;B;B	0.37731	0.01;0.009;0.257	T	0.03095	-1.1073	10	0.29301	T	0.29	2.0252	8.1088	0.30903	0.0:0.7559:0.1592:0.0848	.	1434;1434;1434	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	G	1434;1434;374;374	ENSP00000264447:A1434G;ENSP00000386433:A1434G;ENSP00000386813:A374G	ENSP00000264447:A1434G	A	+	2	0	ZNF638	71504453	0.849000	0.29639	1.000000	0.80357	0.955000	0.61496	2.122000	0.41987	1.383000	0.46405	0.563000	0.77884	GCC		0.418	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		4	37	0	0	0	0.000602	0	4	37				
C2orf78	388960	broad.mit.edu	37	2	74043355	74043355	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:74043355C>A	ENST00000409561.1	+	3	2126	c.2005C>A	c.(2005-2007)Cca>Aca	p.P669T		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	669								p.P669T(1)|p.P639T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCAGCCATTCCCAGCTCTCAA	0.483																																							uc002sjr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2005-2007)CCA>ACA		hypothetical protein LOC388960							44.0	46.0	46.0					2																	74043355		1859	4098	5957	SO:0001583	missense	388960							g.chr2:74043355C>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2005C>A	2.37:g.74043355C>A	ENSP00000387124:p.Pro669Thr						p.P669T	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	2126	+			669						Missense_Mutation	SNP	ENST00000409561.1	37	c.2005C>A	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	2.486	-0.318464	0.05386	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.46451	0.87	5.07	-0.246	0.13022	.	0.552015	0.15131	N	0.278845	T	0.29850	0.0746	L	0.47016	1.485	0.09310	N	1	B	0.21147	0.052	B	0.18561	0.022	T	0.21415	-1.0246	10	0.54805	T	0.06	.	3.8584	0.08985	0.1599:0.4503:0.0:0.3897	.	669	A6NCI8	CB078_HUMAN	T	669;639	ENSP00000387124:P669T	ENSP00000340692:P639T	P	+	1	0	C2orf78	73896863	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.161000	0.10026	-0.279000	0.09167	-0.244000	0.11960	CCA		0.483	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		13	40	1	0	9.31168e-06	0.001855	1.21334e-05	13	40				
NCAPH	23397	broad.mit.edu	37	2	97031791	97031791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:97031791C>T	ENST00000240423.4	+	14	1919	c.1876C>T	c.(1876-1878)Cag>Tag	p.Q626*	NCAPH_ENST00000455200.1_Nonsense_Mutation_p.Q615*|NCAPH_ENST00000427946.1_Nonsense_Mutation_p.Q490*	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	626					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.Q626*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AGCTGAGCCTCAGAAGGTACG	0.418																																							uc002svz.1		NA																	1	Substitution - Nonsense(1)		lung(1)	urinary_tract(1)|skin(1)	2						c.(1876-1878)CAG>TAG		non-SMC condensin I complex, subunit H							140.0	126.0	131.0					2																	97031791		2203	4300	6503	SO:0001587	stop_gained	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97031791C>T	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1876C>T	2.37:g.97031791C>T	ENSP00000240423:p.Gln626*					NCAPH_uc010fhv.1_Nonsense_Mutation_p.Q615*|NCAPH_uc010yum.1_Nonsense_Mutation_p.Q602*|NCAPH_uc010fhw.1_Nonsense_Mutation_p.Q615*|NCAPH_uc010yun.1_Nonsense_Mutation_p.Q490*|NCAPH_uc002swa.1_Nonsense_Mutation_p.Q221*	p.Q626*	NM_015341	NP_056156	Q15003	CND2_HUMAN			14	1960	+		Ovarian(717;0.0221)	626					B4E189|Q8TB87	Nonsense_Mutation	SNP	ENST00000240423.4	37	c.1876C>T	CCDS2021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.761755|7.761755	0.98474|0.98474	.|.	.|.	ENSG00000121152|ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000455200|ENST00000435349	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.046553|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72053	.|0.3413	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72114	.|-0.4388	.|3	0.18710|.	T|.	0.47|.	-22.0211|-22.0211	15.879|15.879	0.79189|0.79189	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	626;490;615|66	.|.	ENSP00000240423:Q626X|.	Q|S	+|+	1|2	0|0	NCAPH|NCAPH	96395518|96395518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	4.208000|4.208000	0.58486|0.58486	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	CAG|TCA		0.418	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		10	44	0	0	0	0.008291	0	10	44				
VWA3B	200403	broad.mit.edu	37	2	98709612	98709612	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:98709612G>T	ENST00000477737.1	+	2	261	c.57G>T	c.(55-57)gaG>gaT	p.E19D	VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Missense_Mutation_p.E19D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	19								p.E19D(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGAGGCAAGAGGGATGGATTA	0.458																																							uc002syo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(55-57)GAG>GAT		von Willebrand factor A domain containing 3B							96.0	91.0	92.0					2																	98709612		1956	4160	6116	SO:0001583	missense	200403							g.chr2:98709612G>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.57G>T	2.37:g.98709612G>T	ENSP00000417955:p.Glu19Asp					VWA3B_uc010yvh.1_Translation_Start_Site|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Translation_Start_Site|VWA3B_uc002sym.2_Missense_Mutation_p.E19D|VWA3B_uc002syn.1_RNA	p.E19D	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			2	321	+			19					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.57G>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770819	0.31320	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.39592	1.07;1.07	5.22	3.43	0.39272	.	0.210963	0.32624	N	0.005853	T	0.32436	0.0829	L	0.50333	1.59	0.18873	N	0.999988	B;B	0.20052	0.024;0.041	B;B	0.14578	0.009;0.011	T	0.20438	-1.0275	10	0.39692	T	0.17	.	5.8561	0.18720	0.1692:0.1574:0.6734:0.0	.	19;19	Q502W6;Q502W6-8	VWA3B_HUMAN;.	D	19	ENSP00000401959:E19D;ENSP00000417955:E19D	ENSP00000411168:E19D	E	+	3	2	VWA3B	98076044	0.009000	0.17119	0.035000	0.18076	0.161000	0.22273	0.352000	0.20113	0.897000	0.36392	-0.128000	0.14901	GAG		0.458	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		8	60	1	0	0.00307968	0.00308	0.00339969	8	60				
SLC9A4	389015	broad.mit.edu	37	2	103090357	103090357	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:103090357G>T	ENST00000295269.4	+	1	596	c.139G>T	c.(139-141)Gct>Tct	p.A47S		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	47					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.A47S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGCTTGGTTTGCTGCTGCCAG	0.433																																							uc002tbz.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(139-141)GCT>TCT		solute carrier family 9 (sodium/hydrogen							175.0	159.0	164.0					2																	103090357		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103090357G>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.139G>T	2.37:g.103090357G>T	ENSP00000295269:p.Ala47Ser						p.A47S	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			1	596	+			47			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.139G>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076499	0.36662	.	.	ENSG00000180251	ENST00000295269	T	0.46451	0.87	5.9	5.02	0.67125	.	1.351940	0.04502	N	0.381361	T	0.42517	0.1206	L	0.56769	1.78	0.19300	N	0.999978	B	0.13145	0.007	B	0.11329	0.006	T	0.44528	-0.9322	10	0.10636	T	0.68	.	11.2081	0.48782	0.1449:0.0:0.8551:0.0	.	47	Q6AI14	SL9A4_HUMAN	S	47	ENSP00000295269:A47S	ENSP00000295269:A47S	A	+	1	0	SLC9A4	102456789	0.998000	0.40836	0.982000	0.44146	0.585000	0.36419	3.481000	0.53179	1.503000	0.48686	0.563000	0.77884	GCT		0.433	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		26	174	1	0	1.2476e-16	0.00632	2.02988e-16	26	174				
ST6GAL2	84620	broad.mit.edu	37	2	107460128	107460128	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:107460128G>T	ENST00000409382.3	-	2	916	c.306C>A	c.(304-306)tcC>tcA	p.S102S	ST6GAL2_ENST00000409087.3_Silent_p.S102S|ST6GAL2_ENST00000361686.4_Silent_p.S102S|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	102					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.S102S(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ACCCATCTTGGGACTGGGCCC	0.587																																							uc002tdq.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(6)|ovary(4)|skin(1)	11						c.(304-306)TCC>TCA		ST6 beta-galactosamide							44.0	53.0	50.0					2																	107460128		2189	4289	6478	SO:0001819	synonymous_variant	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460128G>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.306C>A	2.37:g.107460128G>T						ST6GAL2_uc002tdr.2_Silent_p.S102S|ST6GAL2_uc002tds.3_Silent_p.S102S	p.S102S	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	425	-			102			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	c.306C>A	CCDS2073.1																																																																																				0.587	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		21	89	1	0	2.37509e-13	0.010504	3.76265e-13	21	89				
RANBP2	5903	broad.mit.edu	37	2	109384690	109384690	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:109384690G>T	ENST00000283195.6	+	20	7821	c.7695G>T	c.(7693-7695)caG>caT	p.Q2565H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2565					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Q2565H(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAGTAGCCCAGAGTGGATCTG	0.378																																							uc002tem.3		NA																RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(7693-7695)CAG>CAT		RAN binding protein 2							65.0	75.0	72.0					2																	109384690		2192	4274	6466	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109384690G>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7695G>T	2.37:g.109384690G>T	ENSP00000283195:p.Gln2565His						p.Q2565H	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	7821	+			2565					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.7695G>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447568	0.43429	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.27890	1.64	5.18	1.26	0.21427	.	.	.	.	.	T	0.25005	0.0607	L	0.51422	1.61	0.23356	N	0.997846	B	0.11235	0.004	B	0.08055	0.003	T	0.23013	-1.0200	9	0.45353	T	0.12	-3.0323	5.7562	0.18174	0.2841:0.1295:0.5864:0.0	.	2565	P49792	RBP2_HUMAN	H	1589;2565	ENSP00000283195:Q2565H	ENSP00000283195:Q2565H	Q	+	3	2	RANBP2	108751122	0.882000	0.30256	0.921000	0.36526	0.606000	0.37113	0.579000	0.23788	0.103000	0.17682	0.460000	0.39030	CAG		0.378	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		42	278	1	0	1.52319e-26	0.00874	2.57572e-26	42	278				
POLR1B	84172	broad.mit.edu	37	2	113305083	113305083	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:113305083A>T	ENST00000263331.5	+	3	1011	c.431A>T	c.(430-432)aAg>aTg	p.K144M	POLR1B_ENST00000417433.2_Missense_Mutation_p.K88M|POLR1B_ENST00000541869.1_Missense_Mutation_p.K182M|POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000409894.3_Missense_Mutation_p.K144M	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	144					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.K144M(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GTGAAATCCAAGCTTTGCAAC	0.468																																					Ovarian(16;256 576 9537 23969 41147)	Ovarian(16;256 576 9537 23969 41147)	uc002thw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(430-432)AAG>ATG		RNA polymerase I polypeptide B isoform 1							176.0	152.0	160.0					2																	113305083		2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113305083A>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.431A>T	2.37:g.113305083A>T	ENSP00000263331:p.Lys144Met					POLR1B_uc010fkn.2_Missense_Mutation_p.K88M|POLR1B_uc002thx.2_Missense_Mutation_p.K5M|POLR1B_uc010fko.2_Missense_Mutation_p.K144M|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.K182M|POLR1B_uc002thy.2_Missense_Mutation_p.K5M|POLR1B_uc010yxo.1_Intron	p.K144M	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN			3	1011	+			144					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.431A>T	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220357	0.79464	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000417433	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.66	1.99	0.26369	RNA polymerase, beta subunit, protrusion (1);	0.214961	0.56097	D	0.000037	T	0.76709	0.4025	M	0.82823	2.61	0.80722	D	1	P;D;P;P	0.76494	0.936;0.999;0.828;0.931	P;D;P;P	0.72075	0.792;0.976;0.669;0.8	T	0.77088	-0.2717	10	0.72032	D	0.01	-16.5629	9.6181	0.39704	0.7822:0.0:0.2178:0.0	.	182;144;88;144	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	M	144;182;144;88	ENSP00000263331:K144M;ENSP00000444136:K182M;ENSP00000387143:K144M;ENSP00000405358:K88M	ENSP00000263331:K144M	K	+	2	0	POLR1B	113021554	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	3.081000	0.50120	0.512000	0.28257	0.533000	0.62120	AAG		0.468	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		19	105	0	0	0	0.006122	0	19	105				
TFCP2L1	29842	broad.mit.edu	37	2	121995289	121995289	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:121995289G>T	ENST00000263707.5	-	10	1010	c.913C>A	c.(913-915)Ctg>Atg	p.L305M		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	305					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L305M(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GATGGGAGCAGGTGCTGTGAG	0.607																																							uc002tmx.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(913-915)CTG>ATG		LBP-9							87.0	87.0	87.0					2																	121995289		2203	4300	6503	SO:0001583	missense	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:121995289G>T	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.913C>A	2.37:g.121995289G>T	ENSP00000263707:p.Leu305Met					TFCP2L1_uc010flr.2_Missense_Mutation_p.L305M	p.L305M	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN			10	1006	-	Renal(3;0.01)		305					Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	c.913C>A	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522591	0.85600	.	.	ENSG00000115112	ENST00000263707	T	0.25085	1.82	5.69	4.82	0.62117	Sterile alpha motif/pointed domain (1);	0.000000	0.64402	D	0.000001	T	0.53158	0.1779	M	0.85197	2.74	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	T	0.60281	-0.7294	10	0.52906	T	0.07	.	14.513	0.67800	0.0703:0.0:0.9297:0.0	.	305	Q9NZI6	TF2L1_HUMAN	M	305	ENSP00000263707:L305M	ENSP00000263707:L305M	L	-	1	2	TFCP2L1	121711759	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.438000	0.97539	1.412000	0.46977	0.655000	0.94253	CTG		0.607	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		4	60	1	0	0.00024832	0.009096	0.000291212	4	60				
MYO7B	4648	broad.mit.edu	37	2	128393797	128393797	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:128393797C>A	ENST00000409816.2	+	43	5975	c.5943C>A	c.(5941-5943)gcC>gcA	p.A1981A	MYO7B_ENST00000389524.4_Silent_p.A1982A|LIMS2_ENST00000494613.1_5'Flank|MYO7B_ENST00000428314.1_Silent_p.A1981A|MYO7B_ENST00000409090.1_Silent_p.A834A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1981	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A1981A(1)|p.A2225A(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCCTTCTAGCCTATGACAAGC	0.622																																							uc002top.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(5941-5943)GCC>GCA		myosin VIIB							75.0	78.0	77.0					2																	128393797		1996	4166	6162	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128393797C>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5943C>A	2.37:g.128393797C>A						MYO7B_uc002tos.1_Silent_p.A91A|MYO7B_uc002tot.2_Silent_p.A91A	p.A1981A	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	44	5996	+	Colorectal(110;0.1)		1981			FERM 2.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.5943C>A	CCDS46405.1																																																																																				0.622	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		8	64	1	0	0.00307968	0.00308	0.00339969	8	64				
POTEF	728378	broad.mit.edu	37	2	130832523	130832523	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:130832523G>T	ENST00000409914.2	-	17	2921	c.2522C>A	c.(2521-2523)tCc>tAc	p.S841Y	POTEF_ENST00000357462.5_Missense_Mutation_p.S841Y	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	841	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S841Y(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGTGTACAGGGACAGCACAGC	0.592																																							uc010fmh.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2521-2523)TCC>TAC		prostate, ovary, testis expressed protein on							105.0	126.0	119.0					2																	130832523		2200	4290	6490	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130832523G>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2522C>A	2.37:g.130832523G>T	ENSP00000386786:p.Ser841Tyr						p.S841Y	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			17	2922	-			841			Actin-like.		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.2522C>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	13.88	2.368448	0.42003	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.97831	-4.56;-4.56	.	.	.	.	.	.	.	.	D	0.99080	0.9684	H	0.99368	4.535	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96966	0.9705	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	841	A5A3E0	POTEF_HUMAN	Y	841	ENSP00000350052:S841Y;ENSP00000386786:S841Y	ENSP00000350052:S841Y	S	-	2	0	POTEF	130548993	1.000000	0.71417	0.110000	0.21437	0.111000	0.19643	6.509000	0.73725	0.119000	0.18210	0.121000	0.15741	TCC		0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		12	92	1	0	8.60227e-14	0.004007	1.37241e-13	12	92				
GPR148	344561	broad.mit.edu	37	2	131487629	131487629	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:131487629C>A	ENST00000309926.4	+	1	987	c.905C>A	c.(904-906)gCa>gAa	p.A302E		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A302E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TGGCTCCTGGCAGCTAACAGT	0.582																																							uc002trv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(904-906)GCA>GAA		G protein-coupled receptor 148							145.0	112.0	123.0					2																	131487629		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487629C>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.905C>A	2.37:g.131487629C>A	ENSP00000308908:p.Ala302Glu						p.A302E	NM_207364	NP_997247	Q8TDV2	GP148_HUMAN			1	907	+	Colorectal(110;0.1)		302			Helical; Name=7; (Potential).		Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.905C>A	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	14.16	2.453355	0.43531	.	.	ENSG00000173302	ENST00000309926	T	0.37584	1.19	3.37	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.376534	0.20973	U	0.082352	T	0.30541	0.0768	N	0.19112	0.55	0.23070	N	0.998349	D	0.53462	0.96	P	0.51777	0.679	T	0.07271	-1.0781	10	0.46703	T	0.11	-6.4351	8.5956	0.33714	0.0:0.8785:0.0:0.1215	.	302	Q8TDV2	GP148_HUMAN	E	302	ENSP00000308908:A302E	ENSP00000308908:A302E	A	+	2	0	GPR148	131204099	0.682000	0.27624	0.840000	0.33206	0.570000	0.35934	1.836000	0.39191	0.549000	0.28973	-0.379000	0.06801	GCA		0.582	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		11	64	1	0	0.00010058	0.001368	0.000120616	11	64				
LOC401010	401010	broad.mit.edu	37	2	132200526	132200526	+	IGR	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:132200526A>T								AC073869.19 (33904 upstream) : RP11-109E12.1 (18867 downstream)																							GTTTGATCTCAGGAAAGTTCA	0.537																																							uc002tst.2		NA																	0					0						c.(1474-1476)CCT>CCA		SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186);																																				SO:0001628	intergenic_variant	401010							g.chr2:132200526A>T																													2.37:g.132200526A>T							p.P492P	NR_002826						1	1942	-									Silent	SNP		37	c.1476T>A																																																																																				0	0.537									7	53	0	0	0	0.001984	0	7	53				
TUBA3D	113457	broad.mit.edu	37	2	132237812	132237812	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:132237812G>A	ENST00000321253.6	+	4	653	c.546G>A	c.(544-546)gtG>gtA	p.V182V	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	182					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.V182V(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CAGCCGTGGTGGAGCCCTACA	0.552																																					Ovarian(137;2059 2432 35543 39401)	Ovarian(137;2059 2432 35543 39401)	uc002tsu.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(544-546)GTG>GTA		tubulin, alpha 3d							141.0	156.0	151.0					2																	132237812		2202	4299	6501	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237812G>A	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.546G>A	2.37:g.132237812G>A							p.V182V	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	653	+			182					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.546G>A	CCDS33290.1																																																																																				0.552	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		16	196	0	0	0	0.007413	0	16	196				
NCKAP5	344148	broad.mit.edu	37	2	133542855	133542855	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:133542855C>A	ENST00000409261.1	-	14	1902	c.1529G>T	c.(1528-1530)aGt>aTt	p.S510I	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S510I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	510								p.S510I(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCAAACAGACTGTCGGAAAC	0.507																																							uc002ttp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1528-1530)AGT>ATT		Nck-associated protein 5 isoform 1							126.0	127.0	127.0					2																	133542855		1993	4172	6165	SO:0001583	missense	344148						protein binding	g.chr2:133542855C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1529G>T	2.37:g.133542855C>A	ENSP00000387128:p.Ser510Ile					NCKAP5_uc002ttq.2_Intron	p.S510I	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	1903	-			510					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.1529G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	22.4	4.283383	0.80803	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.26223	1.75;1.75	5.38	5.38	0.77491	.	0.000000	0.40222	U	0.001158	T	0.42337	0.1198	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.25779	-1.0122	10	0.87932	D	0	.	17.5158	0.87773	0.0:1.0:0.0:0.0	.	510	O14513	NCKP5_HUMAN	I	510	ENSP00000387128:S510I;ENSP00000380603:S510I	ENSP00000380603:S510I	S	-	2	0	NCKAP5	133259325	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.256000	0.72473	2.790000	0.95986	0.645000	0.84053	AGT		0.507	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		19	142	1	0	3.32936e-07	0.006122	4.57597e-07	19	142				
MAP3K19	80122	broad.mit.edu	37	2	135744683	135744683	+	Silent	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:135744683A>G	ENST00000375845.3	-	7	1789	c.1759T>C	c.(1759-1761)Ttg>Ctg	p.L587L	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.L604L|MAP3K19_ENST00000358371.4_Silent_p.L474L|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	587							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L587L(1)									AACCTGGGCAATTGCCAAGGC	0.423																																							uc002tue.1		NA																	1	Substitution - coding silent(1)		lung(1)	stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(1759-1761)TTG>CTG		Yeast Sps1/Ste20-related kinase 4 isoform 1							85.0	91.0	89.0					2																	135744683		2203	4300	6503	SO:0001819	synonymous_variant	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135744683A>G	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1759T>C	2.37:g.135744683A>G						YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.L474L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.L315L|YSK4_uc002tui.3_Silent_p.L604L	p.L587L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1790	-			587					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.1759T>C	CCDS2176.2																																																																																				0.423	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		25	170	0	0	0	0.00278	0	25	170				
YWHAEP5	440917	broad.mit.edu	37	2	139045943	139045943	+	IGR	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:139045943T>C								AC069394.1 (182468 upstream) : AC097721.2 (129910 downstream)														p.R119G(1)									GCCTCCTTCCTGTCATTTCCT	0.453																																							uc010zbk.1		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(355-357)AGG>GGG		SubName: Full=cDNA, FLJ79100, highly similar to 14-3-3 protein epsilon (14-3-3E);																																				SO:0001628	intergenic_variant	0							g.chr2:139045943T>C																													2.37:g.139045943T>C							p.R119G							1	498	-									Missense_Mutation	SNP		37	c.355A>G																																																																																				0	0.453									23	126	0	0	0	0.00333	0	23	126				
LRP1B	53353	broad.mit.edu	37	2	141027886	141027886	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:141027886C>G	ENST00000389484.3	-	86	14143	c.13172G>C	c.(13171-13173)tGt>tCt	p.C4391S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4391	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.|EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.C4391S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACATAACTGACAGCTAGAGGC	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13171-13173)TGT>TCT		low density lipoprotein-related protein 1B							121.0	104.0	110.0					2																	141027886		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141027886C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13172G>C	2.37:g.141027886C>G	ENSP00000374135:p.Cys4391Ser	TSP Lung(27;0.18)					p.C4391S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	86	14144	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4391			Extracellular (Potential).|EGF-like 14.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13172G>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.166135|4.166135	0.78339|0.78339	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|.	0.92647|.	-3.08|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.75817|0.75817	0.3901|0.3901	M|M	0.65975|0.65975	2.015|2.015	0.53688|0.53688	D|D	0.999972|0.999972	B|.	0.21071|.	0.051|.	B|.	0.21917|.	0.037|.	T|T	0.72197|0.72197	-0.4363|-0.4363	10|5	0.56958|.	D|.	0.05|.	.|.	20.27|20.27	0.98469|0.98469	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4391|.	Q9NZR2|.	LRP1B_HUMAN|.	S|L	4391;4329|623;123	ENSP00000374135:C4391S|.	ENSP00000374135:C4391S|.	C|V	-|-	2|1	0|0	LRP1B|LRP1B	140744356|140744356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.445000|7.445000	0.80570|0.80570	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	TGT|GTC		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	55	0	0	0	0.001168	0	6	55				
LRP1B	53353	broad.mit.edu	37	2	141108599	141108599	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:141108599C>G	ENST00000389484.3	-	77	12630	c.11659G>C	c.(11659-11661)Gat>Cat	p.D3887H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3887					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D3887H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAACTTGATCTTCAGAGCCT	0.264										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11659-11661)GAT>CAT		low density lipoprotein-related protein 1B							68.0	74.0	72.0					2																	141108599		2202	4299	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108599C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11659G>C	2.37:g.141108599C>G	ENSP00000374135:p.Asp3887His	TSP Lung(27;0.18)					p.D3887H	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	77	12631	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3887			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11659G>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.65|18.65	3.669010|3.669010	0.67814|0.67814	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.90197|.	-2.63|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Growth factor, receptor (1);|.	0.198039|.	0.41294|.	D|.	0.000917|.	T|T	0.69797|0.69797	0.3151|0.3151	L|L	0.45581|0.45581	1.43|1.43	0.54753|0.54753	D|D	0.999984|0.999984	D|.	0.64830|.	0.994|.	P|.	0.58013|.	0.831|.	T|T	0.64437|0.64437	-0.6408|-0.6408	10|5	0.45353|.	T|.	0.12|.	.|.	19.8575|19.8575	0.96767|0.96767	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3887|.	Q9NZR2|.	LRP1B_HUMAN|.	H|N	3887;3825|118	ENSP00000374135:D3887H|.	ENSP00000374135:D3887H|.	D|K	-|-	1|3	0|2	LRP1B|LRP1B	140825069|140825069	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.378000|7.378000	0.79679|0.79679	2.698000|2.698000	0.92095|0.92095	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.264	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		8	57	0	0	0	0.00308	0	8	57				
LRP1B	53353	broad.mit.edu	37	2	141474375	141474375	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:141474375G>T	ENST00000389484.3	-	36	6740	c.5769C>A	c.(5767-5769)acC>acA	p.T1923T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1923					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.T1923T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCAGTAGATGGTATCATTTT	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5767-5769)ACC>ACA		low density lipoprotein-related protein 1B							102.0	98.0	99.0					2																	141474375		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141474375G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5769C>A	2.37:g.141474375G>T		TSP Lung(27;0.18)					p.T1923T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	36	6741	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1923			Extracellular (Potential).|LDL-receptor class B 19.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.5769C>A	CCDS2182.1																																																																																				0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	54	1	0	0.00024832	0.009096	0.000291212	4	54				
MBD5	55777	broad.mit.edu	37	2	149247498	149247498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:149247498G>T	ENST00000407073.1	+	12	4595	c.3598G>T	c.(3598-3600)Gag>Tag	p.E1200*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.E1433*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1200					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.E1200*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTGGGACGGGGAGCAAAGCCC	0.473																																							uc002twm.3		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)	5						c.(3598-3600)GAG>TAG		methyl-CpG binding domain protein 5							103.0	104.0	103.0					2																	149247498		2203	4300	6503	SO:0001587	stop_gained	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149247498G>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3598G>T	2.37:g.149247498G>T	ENSP00000386049:p.Glu1200*					MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Nonsense_Mutation_p.E1200*|MBD5_uc002two.2_Nonsense_Mutation_p.E458*|MBD5_uc002twp.2_Nonsense_Mutation_p.E250*	p.E1200*	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	4586	+			1200					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Nonsense_Mutation	SNP	ENST00000407073.1	37	c.3598G>T	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	50	16.115777	0.99854	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	.	.	.	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-7.9267	20.5182	0.99214	0.0:0.0:1.0:0.0	.	.	.	.	X	1200;1433	.	ENSP00000384672:E1433X	E	+	1	0	MBD5	148963968	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.760000	0.91671	2.860000	0.98153	0.655000	0.94253	GAG		0.473	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			5	82	1	0	1.23904e-05	0.000602	1.57585e-05	5	82				
SCN2A	6326	broad.mit.edu	37	2	166179847	166179847	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:166179847G>A	ENST00000375437.2	+	12	2143	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	SCN2A_ENST00000357398.3_Missense_Mutation_p.G618E|SCN2A_ENST00000283256.6_Missense_Mutation_p.G618E|SCN2A_ENST00000375427.2_Missense_Mutation_p.G618E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	618					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G618E(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACAGACATGGAGAACGGCGC	0.557																																							uc002udc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(1852-1854)GGA>GAA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						64.0	55.0	58.0					2																	166179847		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166179847G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1853G>A	2.37:g.166179847G>A	ENSP00000364586:p.Gly618Glu					SCN2A_uc002udd.2_Missense_Mutation_p.G618E|SCN2A_uc002ude.2_Missense_Mutation_p.G618E	p.G618E	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			12	2143	+			618					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.1853G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099585	0.76983	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81	5.64	5.64	0.86602	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000007	D	0.97108	0.9055	M	0.72479	2.2	0.37054	D	0.897732	B;P	0.46277	0.006;0.875	B;P	0.56916	0.02;0.809	D	0.99376	1.0921	10	0.72032	D	0.01	.	19.705	0.96069	0.0:0.0:1.0:0.0	.	618;618	Q99250-2;Q99250	.;SCN2A_HUMAN	E	618	ENSP00000364586:G618E;ENSP00000349973:G618E;ENSP00000283256:G618E;ENSP00000364576:G618E	ENSP00000283256:G618E	G	+	2	0	SCN2A	165888093	1.000000	0.71417	0.971000	0.41717	0.878000	0.50629	4.367000	0.59498	2.666000	0.90696	0.637000	0.83480	GGA		0.557	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		3	28	0	0	0	0.004672	0	3	28				
CSRNP3	80034	broad.mit.edu	37	2	166535349	166535349	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:166535349G>T	ENST00000342316.4	+	5	1116	c.844G>T	c.(844-846)Gag>Tag	p.E282*	CSRNP3_ENST00000314499.7_Nonsense_Mutation_p.E282*|CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.E314*	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	282					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E282*(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GAAAAACCGAGAGCAGCAAAT	0.448																																							uc002udf.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(844-846)GAG>TAG		cysteine-serine-rich nuclear protein 3							75.0	73.0	74.0					2																	166535349		2203	4300	6503	SO:0001587	stop_gained	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166535349G>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.844G>T	2.37:g.166535349G>T	ENSP00000344042:p.Glu282*					CSRNP3_uc002udg.2_Nonsense_Mutation_p.E282*	p.E282*	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			7	1220	+			282					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Nonsense_Mutation	SNP	ENST00000342316.4	37	c.844G>T	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	36	5.700358	0.96802	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	.	.	.	5.71	5.71	0.89125	.	0.146868	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-19.0425	18.8336	0.92151	0.0:0.0:1.0:0.0	.	.	.	.	X	282;289;282;282;314	.	ENSP00000318258:E282X	E	+	1	0	CSRNP3	166243595	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.431000	0.97494	2.683000	0.91414	0.650000	0.86243	GAG		0.448	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		7	56	1	0	8.12818e-05	0.001984	9.7994e-05	7	56				
SCN1A	6323	broad.mit.edu	37	2	166900551	166900551	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:166900551C>T	ENST00000303395.4	-	11	1670	c.1671G>A	c.(1669-1671)ttG>ttA	p.L557L	SCN1A_ENST00000423058.2_Silent_p.L557L|SCN1A_ENST00000375405.3_Silent_p.L557L|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Silent_p.L557L			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	557					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.L557L(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACGGATGCTCAACAAAGACT	0.393																																							uc010zcz.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(1669-1671)TTG>TTA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						41.0	42.0	42.0					2																	166900551		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900551C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1671G>A	2.37:g.166900551C>T						SCN1A_uc002udo.3_Silent_p.L426L|SCN1A_uc010fpk.2_Silent_p.L426L	p.L557L	NM_006920	NP_008851	P35498	SCN1A_HUMAN			11	1689	-			557					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.1671G>A	CCDS54413.1																																																																																				0.393	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		5	37	0	0	0	0.000602	0	5	37				
XIRP2	129446	broad.mit.edu	37	2	168102966	168102966	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:168102966C>A	ENST00000409195.1	+	9	5153	c.5064C>A	c.(5062-5064)aaC>aaA	p.N1688K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N1466K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.N1688K|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1513					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.N1688K(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						GAGATATTAACATGACTATCT	0.338																																							uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(5062-5064)AAC>AAA		xin actin-binding repeat containing 2 isoform 1							115.0	109.0	111.0					2																	168102966		1863	4093	5956	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102966C>A	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.5064C>A	2.37:g.168102966C>A	ENSP00000386840:p.Asn1688Lys					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.N1513K|XIRP2_uc010fpq.2_Missense_Mutation_p.N1466K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.N1688K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5082	+			1513					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.5064C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	7.971	0.749025	0.15710	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02258	4.37;4.37;4.37	5.59	-2.43	0.06522	.	0.098626	0.64402	N	0.000002	T	0.01695	0.0054	N	0.16307	0.4	0.33047	D	0.532295	P;P;B	0.51537	0.911;0.946;0.002	P;P;B	0.53313	0.532;0.723;0.006	T	0.38156	-0.9674	10	0.02654	T	1	-5.0756	4.6328	0.12509	0.2607:0.3251:0.0:0.4142	.	1513;1513;1466	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	1688;1688;1466	ENSP00000386840:N1688K;ENSP00000295237:N1688K;ENSP00000387255:N1466K	ENSP00000295237:N1688K	N	+	3	2	XIRP2	167811212	0.845000	0.29573	0.961000	0.40146	0.994000	0.84299	-0.067000	0.11579	-0.547000	0.06207	-0.157000	0.13467	AAC		0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		8	60	1	0	5.68852e-11	0.004482	8.61869e-11	8	60				
XIRP2	129446	broad.mit.edu	37	2	168108197	168108197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:168108197C>A	ENST00000409195.1	+	9	10384	c.10295C>A	c.(10294-10296)tCg>tAg	p.S3432*	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S3210*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S3432*|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3257					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.S3432L(1)|p.S3432*(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						ATTGTTGAGTCGAAGATGAAA	0.453																																							uc002udx.2		NA																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		large_intestine(1)|lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(10294-10296)TCG>TAG		xin actin-binding repeat containing 2 isoform 1							68.0	68.0	68.0					2																	168108197		1901	4118	6019	SO:0001587	stop_gained	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168108197C>A	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.10295C>A	2.37:g.168108197C>A	ENSP00000386840:p.Ser3432*					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.S3257*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.S3210*|XIRP2_uc010fpr.2_Intron	p.S3432*	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	10313	+			3257					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	c.10295C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	50	16.861068	0.99873	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	.	.	.	6.16	5.28	0.74379	.	0.222293	0.39909	N	0.001222	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0752	16.483	0.84163	0.0:0.8686:0.1314:0.0	.	.	.	.	X	3432;3432;3210;846	.	ENSP00000295237:S3432X	S	+	2	0	XIRP2	167816443	1.000000	0.71417	0.007000	0.13788	0.241000	0.25554	3.619000	0.54196	1.600000	0.50102	0.650000	0.86243	TCG		0.453	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		4	73	1	0	0.00909568	0.009096	0.00978951	4	73				
TTN	7273	broad.mit.edu	37	2	179404336	179404336	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:179404336G>T	ENST00000591111.1	-	302	93757	c.93533C>A	c.(93532-93534)cCt>cAt	p.P31178H	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P23879H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23946H|TTN_ENST00000460472.2_Missense_Mutation_p.P23754H|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P30251H|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P32819H|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588257.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31178	Fibronectin type-III 127. {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)	p.P30251H(1)|p.P23946H(1)|p.P23879H(1)|p.P23754H(1)|p.P30249H(1)		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)			ATCAGCAGGAGGTCTCCAGCT	0.527																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	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.(90751-90753)CCT>CAT		titin isoform N2-A							152.0	147.0	148.0					2																	179404336		2096	4209	6305	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179404336G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93533C>A	2.37:g.179404336G>T	ENSP00000465570:p.Pro31178His					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P23946H|TTN_uc010zfi.1_Missense_Mutation_p.P23879H|TTN_uc010zfj.1_Missense_Mutation_p.P23754H	p.P30251H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		301	90976	-			31178					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.90752C>A		.	.	.	.	.	.	.	.	.	.	G	15.81	2.943945	0.53079	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.93	5.06	0.68205	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70780	0.3263	M	0.85373	2.75	0.35392	D	0.790873	P;P;P;P	0.48764	0.915;0.915;0.915;0.915	P;P;P;P	0.49752	0.621;0.621;0.621;0.621	T	0.83216	-0.0071	9	0.87932	D	0	.	15.4178	0.74983	0.0662:0.0:0.9338:0.0	.	23754;23879;23946;31178	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	30251;23754;23946;23879;23751	ENSP00000343764:P30251H;ENSP00000434586:P23754H;ENSP00000340554:P23946H;ENSP00000352154:P23879H	ENSP00000340554:P23946H	P	-	2	0	TTN	179112582	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.708000	0.74660	1.542000	0.49330	-0.126000	0.14955	CCT		0.527	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	137	1	0	7.45023e-12	0.010504	1.15001e-11	19	137				
TTN	7273	broad.mit.edu	37	2	179422925	179422925	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:179422925G>T	ENST00000591111.1	-	278	82457	c.82233C>A	c.(82231-82233)caC>caA	p.H27411Q	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H20112Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H20179Q|TTN_ENST00000460472.2_Missense_Mutation_p.H19987Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H26484Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H29052Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27411					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.H26482Q(1)|p.H20112Q(1)|p.H26484Q(1)|p.H20179Q(1)|p.H19987Q(1)		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)			CATATACAGTGTGACTTGGGA	0.353																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	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.(79450-79452)CAC>CAA		titin isoform N2-A							52.0	51.0	51.0					2																	179422925		1835	4084	5919	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179422925G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82233C>A	2.37:g.179422925G>T	ENSP00000465570:p.His27411Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.H20179Q|TTN_uc010zfi.1_Missense_Mutation_p.H20112Q|TTN_uc010zfj.1_Missense_Mutation_p.H19987Q	p.H26484Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		277	79676	-			27411					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.79452C>A		.	.	.	.	.	.	.	.	.	.	G	11.06	1.528165	0.27299	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.69	-5.21	0.02815	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37758	0.1015	N	0.03608	-0.345	0.29894	N	0.824997	B;B;B;B	0.27316	0.175;0.175;0.175;0.175	B;B;B;B	0.33254	0.16;0.16;0.16;0.16	T	0.42068	-0.9473	9	0.87932	D	0	.	11.1038	0.48190	0.5117:0.0:0.4078:0.0805	.	19987;20112;20179;27411	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	26484;19987;20179;20112;19984	ENSP00000343764:H26484Q;ENSP00000434586:H19987Q;ENSP00000340554:H20179Q;ENSP00000352154:H20112Q	ENSP00000340554:H20179Q	H	-	3	2	TTN	179131171	0.262000	0.24073	0.401000	0.26359	0.784000	0.44337	-0.432000	0.06956	-1.074000	0.03132	-0.751000	0.03497	CAC		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	43	1	0	1.23904e-05	0.000602	1.57585e-05	5	43				
TTN	7273	broad.mit.edu	37	2	179448526	179448526	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:179448526C>T	ENST00000591111.1	-	262	60684	c.60460G>A	c.(60460-60462)Gaa>Aaa	p.E20154K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12855K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12922K|TTN_ENST00000460472.2_Missense_Mutation_p.E12730K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19227K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E21795K|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20154	Fibronectin type-III 46. {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)	p.E19227K(1)|p.E12922K(1)|p.E19225K(1)|p.E12855K(1)|p.E12730K(1)		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)			TTGCAAGCTTCTACGAAATAG	0.463																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	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.(57679-57681)GAA>AAA		titin isoform N2-A							61.0	59.0	60.0					2																	179448526		1906	4112	6018	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179448526C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60460G>A	2.37:g.179448526C>T	ENSP00000465570:p.Glu20154Lys					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E12922K|TTN_uc010zfi.1_Missense_Mutation_p.E12855K|TTN_uc010zfj.1_Missense_Mutation_p.E12730K	p.E19227K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		261	57903	-			20154					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.57679G>A		.	.	.	.	.	.	.	.	.	.	C	19.50	3.840021	0.71488	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.11	6.11	0.99139	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81044	0.4741	M	0.92507	3.315	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	D	0.83946	0.0314	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	12730;12855;12922;20154	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	19227;12730;12922;12855;12728	ENSP00000343764:E19227K;ENSP00000434586:E12730K;ENSP00000340554:E12922K;ENSP00000352154:E12855K	ENSP00000340554:E12922K	E	-	1	0	TTN	179156772	1.000000	0.71417	0.982000	0.44146	0.613000	0.37349	7.818000	0.86416	2.906000	0.99361	0.655000	0.94253	GAA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	22	0	0	0	0.001984	0	6	22				
TTN	7273	broad.mit.edu	37	2	179459287	179459287	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:179459287C>T	ENST00000591111.1	-	246	53235	c.53011G>A	c.(53011-53013)Ggt>Agt	p.G17671S	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G10372S|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G10439S|TTN_ENST00000460472.2_Missense_Mutation_p.G10247S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16744S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G19312S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17671	Fibronectin type-III 28. {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)	p.G10439S(1)|p.G16744S(1)|p.G10372S(1)|p.G16742S(1)|p.G10247S(1)		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)			TCTGACCCACCATCATACTTA	0.393																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	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.(50230-50232)GGT>AGT		titin isoform N2-A							122.0	117.0	118.0					2																	179459287		1834	4090	5924	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179459287C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53011G>A	2.37:g.179459287C>T	ENSP00000465570:p.Gly17671Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G10439S|TTN_uc010zfi.1_Missense_Mutation_p.G10372S|TTN_uc010zfj.1_Missense_Mutation_p.G10247S	p.G16744S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		245	50454	-			17671					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.50230G>A		.	.	.	.	.	.	.	.	.	.	C	19.24	3.789831	0.70337	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78604	0.4309	M	0.86740	2.835	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.80587	-0.1316	9	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	10247;10372;10439;17671	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	16744;10247;10439;10372;10245	ENSP00000343764:G16744S;ENSP00000434586:G10247S;ENSP00000340554:G10439S;ENSP00000352154:G10372S	ENSP00000340554:G10439S	G	-	1	0	TTN	179167533	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.760000	0.85248	2.854000	0.98071	0.655000	0.94253	GGT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	107	0	0	0	0.010504	0	19	107				
ITGA4	3676	broad.mit.edu	37	2	182339987	182339987	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:182339987G>T	ENST00000397033.2	+	4	958	c.528G>T	c.(526-528)ctG>ctT	p.L176L	ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Silent_p.L176L	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	176					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.L176L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GAACAGAACTGAGTAAAAGAA	0.343																																							uc002unu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(526-528)CTG>CTT		integrin alpha 4 precursor	Natalizumab(DB00108)						106.0	104.0	105.0					2																	182339987		1843	4098	5941	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182339987G>T		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.528G>T	2.37:g.182339987G>T						ITGA4_uc010zfl.1_Silent_p.L176L	p.L176L	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		4	1291	+			176			FG-GAP 2.|Extracellular (Potential).		D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.528G>T	CCDS42788.1																																																																																				0.343	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			15	91	1	0	1.15088e-07	0.004007	1.59393e-07	15	91				
ZNF804A	91752	broad.mit.edu	37	2	185801020	185801020	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:185801020C>A	ENST00000302277.6	+	4	1491	c.897C>A	c.(895-897)gtC>gtA	p.V299V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	299							metal ion binding (GO:0046872)	p.V299V(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						TAAAAGAAGTCTCTAGTGAAA	0.353																																							uc002uph.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(895-897)GTC>GTA		zinc finger protein 804A							36.0	35.0	35.0					2																	185801020		2202	4297	6499	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185801020C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.897C>A	2.37:g.185801020C>A							p.V299V	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1491	+			299					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.897C>A	CCDS2291.1																																																																																				0.353	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		6	40	1	0	8.12818e-05	0.001984	9.7994e-05	6	40				
ZNF804A	91752	broad.mit.edu	37	2	185803016	185803016	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:185803016C>A	ENST00000302277.6	+	4	3487	c.2893C>A	c.(2893-2895)Cag>Aag	p.Q965K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	965							metal ion binding (GO:0046872)	p.Q965K(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						TAGACAGTCACAGCCTAAATC	0.388																																							uc002uph.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2893-2895)CAG>AAG		zinc finger protein 804A							91.0	87.0	88.0					2																	185803016		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803016C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2893C>A	2.37:g.185803016C>A	ENSP00000303252:p.Gln965Lys						p.Q965K	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3487	+			965					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2893C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	2.976	-0.211300	0.06140	.	.	ENSG00000170396	ENST00000302277	T	0.05649	3.41	5.41	5.41	0.78517	.	0.540485	0.16662	N	0.204730	T	0.07369	0.0186	L	0.36672	1.1	0.09310	N	1	B	0.13594	0.008	B	0.11329	0.006	T	0.25467	-1.0131	10	0.27785	T	0.31	-1.4513	15.3546	0.74418	0.0:0.8603:0.1397:0.0	.	965	Q7Z570	Z804A_HUMAN	K	965	ENSP00000303252:Q965K	ENSP00000303252:Q965K	Q	+	1	0	ZNF804A	185511261	0.005000	0.15991	0.006000	0.13384	0.375000	0.29983	1.996000	0.40776	2.528000	0.85240	0.467000	0.42956	CAG		0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		18	95	1	0	1.33834e-09	0.007413	1.97148e-09	18	95				
FAM171B	165215	broad.mit.edu	37	2	187605101	187605101	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:187605101T>A	ENST00000304698.5	+	2	588	c.385T>A	c.(385-387)Tac>Aac	p.Y129N		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	129						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.Y129N(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAAAGTACCCTACAAATTAGG	0.393																																							uc002ups.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(3)|central_nervous_system(1)	10						c.(385-387)TAC>AAC		KIAA1946							124.0	114.0	117.0					2																	187605101		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187605101T>A	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.385T>A	2.37:g.187605101T>A	ENSP00000304108:p.Tyr129Asn					FAM171B_uc002upr.1_Missense_Mutation_p.Y129N	p.Y129N	NM_177454	NP_803237	Q6P995	F171B_HUMAN			2	497	+			129			Extracellular (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.385T>A	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711629	0.89112	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.58506	0.33	6.16	6.16	0.99307	.	0.198624	0.45361	D	0.000366	T	0.75199	0.3817	M	0.72894	2.215	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.77493	-0.2567	10	0.72032	D	0.01	-16.9371	15.3771	0.74615	0.0:0.0:0.0:1.0	.	129;130	Q6P995;A8K122	F171B_HUMAN;.	N	129	ENSP00000304108:Y129N	ENSP00000272804:Y129N	Y	+	1	0	FAM171B	187313346	1.000000	0.71417	0.963000	0.40424	0.990000	0.78478	7.218000	0.77991	2.367000	0.80283	0.528000	0.53228	TAC		0.393	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		7	39	0	0	0	0.00308	0	7	39				
STK17B	9262	broad.mit.edu	37	2	197008376	197008376	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:197008376A>T	ENST00000263955.4	-	5	801	c.515T>A	c.(514-516)cTc>cAc	p.L172H	STK17B_ENST00000409228.1_Missense_Mutation_p.L172H	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L172H(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			AATGTCCCCGAGAGGGTATAT	0.353																																							uc002utk.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(514-516)CTC>CAC		serine/threonine kinase 17B							67.0	71.0	70.0					2																	197008376		2203	4300	6503	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197008376A>T	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.515T>A	2.37:g.197008376A>T	ENSP00000263955:p.Leu172His					STK17B_uc010fsh.2_Missense_Mutation_p.L172H	p.L172H	NM_004226	NP_004217	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		5	839	-			172			Protein kinase.			Missense_Mutation	SNP	ENST00000263955.4	37	c.515T>A	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.295185	0.60086	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.48522	0.81;0.81	5.29	5.29	0.74685	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	0.45126	D	0.000384	T	0.43233	0.1238	N	0.16368	0.405	0.80722	D	1	P	0.45078	0.85	P	0.50934	0.654	T	0.28106	-1.0054	10	0.27082	T	0.32	.	15.3814	0.74658	1.0:0.0:0.0:0.0	.	172	O94768	ST17B_HUMAN	H	172	ENSP00000263955:L172H;ENSP00000386853:L172H	ENSP00000263955:L172H	L	-	2	0	STK17B	196716621	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	9.109000	0.94291	2.216000	0.71823	0.533000	0.62120	CTC		0.353	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2			12	101	0	0	0	0.001368	0	12	101				
ANKRD44	91526	broad.mit.edu	37	2	197872649	197872649	+	Splice_Site	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:197872649T>A	ENST00000328737.2	-	20	2014		c.e20-2		ANKRD44_ENST00000450567.1_Splice_Site|ANKRD44_ENST00000282272.8_Splice_Site|ANKRD44_ENST00000337207.5_Splice_Site			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44									p.?(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTGGTGTTCTAGGCAGAGAG	0.403																																							uc002uua.1		NA																	2	Unknown(2)		lung(2)	ovary(4)|skin(1)	5						c.e20-1		ankyrin repeat domain 44							117.0	101.0	107.0					2																	197872649		2203	4300	6503	SO:0001630	splice_region_variant	91526						protein binding	g.chr2:197872649T>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1938-2A>T	2.37:g.197872649T>A						ANKRD44_uc002utz.3_Splice_Site_p.Q378_splice	p.Q646_splice	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		20	2015	-								Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Splice_Site	SNP	ENST00000328737.2	37	c.1938_splice		.	.	.	.	.	.	.	.	.	.	T	23.2	4.388927	0.82902	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2942	0.73891	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD44	197580894	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.868000	0.87116	2.205000	0.71048	0.528000	0.53228	.		0.403	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	Intron	13	89	0	0	0	0.001855	0	13	89				
SATB2	23314	broad.mit.edu	37	2	200137156	200137156	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:200137156G>C	ENST00000417098.1	-	11	2796	c.1980C>G	c.(1978-1980)atC>atG	p.I660M	SATB2_ENST00000260926.5_Missense_Mutation_p.I660M|SATB2_ENST00000443023.1_Missense_Mutation_p.I601M|SATB2_ENST00000457245.1_Missense_Mutation_p.I660M|SATB2_ENST00000428695.1_Missense_Mutation_p.I542M	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	660					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.I660M(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGAAGAACTTGATGATGGTGT	0.547																																					Colon(30;262 767 11040 24421 36230)	Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1978-1980)ATC>ATG		SATB homeobox 2							155.0	137.0	143.0					2																	200137156		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137156G>C	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1980C>G	2.37:g.200137156G>C	ENSP00000401112:p.Ile660Met					SATB2_uc010fsq.1_Missense_Mutation_p.I542M|SATB2_uc002uuz.1_Missense_Mutation_p.I660M|SATB2_uc002uva.1_Missense_Mutation_p.I660M	p.I660M	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			11	2797	-			660			Homeobox.		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1980C>G	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123271	0.56613	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91	5.5	5.5	0.81552	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.057741	0.64402	D	0.000001	D	0.94863	0.8340	N	0.24115	0.695	0.45962	D	0.99878	D;P	0.65815	0.995;0.846	D;B	0.63703	0.917;0.42	D	0.94785	0.7957	10	0.62326	D	0.03	-17.1653	13.0401	0.58895	0.074:0.0:0.926:0.0	.	542;660	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	M	660;601;660;542;660	ENSP00000401112:I660M;ENSP00000388764:I601M;ENSP00000260926:I660M;ENSP00000388581:I542M;ENSP00000405420:I660M	ENSP00000260926:I660M	I	-	3	3	SATB2	199845401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.151000	0.50670	2.741000	0.93983	0.650000	0.86243	ATC		0.547	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		7	98	0	0	0	0.001984	0	7	98				
FAM126B	285172	broad.mit.edu	37	2	201853122	201853122	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:201853122G>C	ENST00000418596.3	-	11	1041	c.854C>G	c.(853-855)tCa>tGa	p.S285*	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	285						intracellular (GO:0005622)		p.S285*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AAATGGTAATGAGTTTTTCAT	0.358																																							uc002uws.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(853-855)TCA>TGA		hypothetical protein LOC285172							107.0	108.0	108.0					2																	201853122		2203	4300	6503	SO:0001587	stop_gained	285172					intracellular		g.chr2:201853122G>C	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.854C>G	2.37:g.201853122G>C	ENSP00000393667:p.Ser285*					FAM126B_uc002uwu.2_Nonsense_Mutation_p.S203*|FAM126B_uc002uwv.2_Nonsense_Mutation_p.S285*	p.S285*	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			11	1042	-			285					B2RCG7|Q4ZG87|Q53TX6	Nonsense_Mutation	SNP	ENST00000418596.3	37	c.854C>G	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	G	36	5.685903	0.96784	.	.	ENSG00000155744	ENST00000418596	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.7153	19.7907	0.96456	0.0:0.0:1.0:0.0	.	.	.	.	X	285	.	ENSP00000393667:S285X	S	-	2	0	FAM126B	201561367	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.986000	0.93492	2.686000	0.91538	0.491000	0.48974	TCA		0.358	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		9	92	0	0	0	0.000978	0	9	92				
CDK15	65061	broad.mit.edu	37	2	202700488	202700488	+	Splice_Site	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:202700488T>A	ENST00000374598.4	+	8	851		c.e8+2		CDK15_ENST00000260967.2_Splice_Site|CDK15_ENST00000488419.1_Splice_Site|CDK15_ENST00000410091.3_Splice_Site|CDK15_ENST00000450471.2_Splice_Site|CDK15_ENST00000434439.1_Splice_Site			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15								ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)	p.?(1)		breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GGACATATGGTAAGAGTGGTG	0.443																																							uc002uyt.2		NA																	1	Unknown(1)		lung(1)	breast(2)|ovary(1)|lung(1)|kidney(1)	5						c.e8+2		PFTAIRE protein kinase 2	Adenosine triphosphate(DB00171)						69.0	68.0	69.0					2																	202700488		2203	4300	6503	SO:0001630	splice_region_variant	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202700488T>A	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.851+2T>A	2.37:g.202700488T>A						CDK15_uc010ftm.2_Splice_Site_p.W149_splice|CDK15_uc002uys.2_Splice_Site_p.W233_splice|CDK15_uc010ftn.1_Splice_Site_p.W233_splice|CDK15_uc010fto.1_Splice_Site_p.W263_splice	p.W284_splice	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN			8	900	+								A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Splice_Site	SNP	ENST00000374598.4	37	c.851_splice		.	.	.	.	.	.	.	.	.	.	T	27.4	4.826463	0.90955	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1136	0.81283	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK15	202408733	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.870000	0.87175	2.266000	0.75297	0.455000	0.32223	.		0.443	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2		Intron	7	32	0	0	0	0.004482	0	7	32				
BMPR2	659	broad.mit.edu	37	2	203332383	203332383	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:203332383A>G	ENST00000374580.4	+	3	928	c.389A>G	c.(388-390)aAt>aGt	p.N130S	BMPR2_ENST00000374574.2_Missense_Mutation_p.N130S|BMPR2_ENST00000479069.1_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	130					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.N130S(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TTTACTGAGAATTTTCCACCT	0.348																																							uc002uzf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						c.(388-390)AAT>AGT		bone morphogenetic protein receptor type II							142.0	127.0	132.0					2																	203332383		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203332383A>G	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.389A>G	2.37:g.203332383A>G	ENSP00000363708:p.Asn130Ser					BMPR2_uc010ftr.2_Missense_Mutation_p.N130S|BMPR2_uc002uze.2_Missense_Mutation_p.N130S	p.N130S	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			3	1537	+			130			Extracellular (Potential).		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.389A>G	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.564082	0.45694	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.97575	-2.39;-4.44	5.38	5.38	0.77491	TGF-beta receptor/activin receptor, type I/II (1);	0.045639	0.85682	D	0.000000	D	0.94847	0.8335	L	0.54323	1.7	0.54753	D	0.999986	P;P;B	0.40794	0.454;0.729;0.176	B;B;B	0.41271	0.266;0.352;0.054	D	0.94070	0.7334	10	0.06099	T	0.92	.	15.3775	0.74621	1.0:0.0:0.0:0.0	.	130;130;130	Q13161;Q13873;A8K8R5	.;BMPR2_HUMAN;.	S	130	ENSP00000363708:N130S;ENSP00000363702:N130S	ENSP00000363702:N130S	N	+	2	0	BMPR2	203040628	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.715000	0.84713	2.037000	0.60232	0.533000	0.62120	AAT		0.348	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		17	86	0	0	0	0.006122	0	17	86				
CRYGB	1419	broad.mit.edu	37	2	209007476	209007476	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:209007476G>A	ENST00000260988.4	-	3	461	c.414C>T	c.(412-414)ccC>ccT	p.P138P		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	138	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)	p.P138P(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCCTGTAGTTGGGCATCTCAT	0.542																																							uc002vcp.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(412-414)CCC>CCT		crystallin, gamma B							103.0	102.0	102.0					2																	209007476		2203	4300	6503	SO:0001819	synonymous_variant	1419				visual perception		structural constituent of eye lens	g.chr2:209007476G>A		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.414C>T	2.37:g.209007476G>A							p.P138P	NM_005210	NP_005201	P07316	CRGB_HUMAN		Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)	3	447	-			138			Beta/gamma crystallin 'Greek key' 4.		Q17RB5|Q53ST2	Silent	SNP	ENST00000260988.4	37	c.414C>T	CCDS2380.1																																																																																				0.542	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210		21	127	0	0	0	0.002299	0	21	127				
PTH2R	5746	broad.mit.edu	37	2	209308240	209308240	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:209308240C>A	ENST00000272847.2	+	6	890	c.677C>A	c.(676-678)aCt>aAt	p.T226N	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	226					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.T226N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	ATTGAGGCAACTTCTGTGGAC	0.368																																							uc002vdb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(676-678)ACT>AAT		parathyroid hormone 2 receptor precursor							150.0	141.0	144.0					2																	209308240		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209308240C>A	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.677C>A	2.37:g.209308240C>A	ENSP00000272847:p.Thr226Asn					PTH2R_uc010zjb.1_Missense_Mutation_p.T237N	p.T226N	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	6	890	+			226			Extracellular (Potential).		Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.677C>A	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228857	0.39399	.	.	ENSG00000144407	ENST00000272847	T	0.53640	0.61	5.29	4.4	0.53042	GPCR, family 2-like (1);	0.419891	0.17484	N	0.172590	T	0.36608	0.0973	L	0.28556	0.865	0.09310	N	1	B;B	0.19583	0.037;0.037	B;B	0.34346	0.139;0.18	T	0.24476	-1.0159	10	0.15952	T	0.53	.	8.8586	0.35242	0.0:0.8995:0.0:0.1005	.	115;226	B4DFN8;P49190	.;PTH2R_HUMAN	N	226	ENSP00000272847:T226N	ENSP00000272847:T226N	T	+	2	0	PTH2R	209016485	0.007000	0.16637	0.209000	0.23619	0.038000	0.13279	2.147000	0.42226	2.474000	0.83562	0.585000	0.79938	ACT		0.368	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		9	88	1	0	1.12685e-05	0.004482	1.45156e-05	9	88				
MAP2	4133	broad.mit.edu	37	2	210558419	210558419	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:210558419G>A	ENST00000360351.4	+	7	2031	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D505N|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	509					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.D509N(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGCAGTTACAGATTCAGCCAT	0.428																																					Pancreas(27;423 979 28787 29963)	Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(1525-1527)GAT>AAT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						76.0	76.0	76.0					2																	210558419		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210558419G>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1525G>A	2.37:g.210558419G>A	ENSP00000353508:p.Asp509Asn					MAP2_uc002vdc.1_Missense_Mutation_p.D509N|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.D505N	p.D509N	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	1773	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	509					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1525G>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102716	0.37145	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.26810	1.71;1.71	6.16	4.16	0.48862	MAP2/Tau projection (1);	0.297790	0.28996	N	0.013467	T	0.23846	0.0577	L	0.44542	1.39	0.09310	N	1	B;B	0.32653	0.328;0.379	B;B	0.38378	0.178;0.272	T	0.19160	-1.0314	10	0.62326	D	0.03	-11.2891	7.3818	0.26859	0.151:0.0:0.7147:0.1343	.	505;509	P11137-3;P11137	.;MAP2_HUMAN	N	509;505	ENSP00000353508:D509N;ENSP00000392164:D505N	ENSP00000353508:D509N	D	+	1	0	MAP2	210266664	0.732000	0.28121	0.594000	0.28785	0.949000	0.60115	2.212000	0.42835	1.487000	0.48415	0.650000	0.86243	GAT		0.428	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		8	80	0	0	0	0.004482	0	8	80				
CPS1	1373	broad.mit.edu	37	2	211464141	211464141	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:211464141G>T	ENST00000233072.5	+	14	1601	c.1405G>T	c.(1405-1407)Gtc>Ttc	p.V469F	CPS1_ENST00000430249.2_Missense_Mutation_p.V475F|CPS1_ENST00000451903.2_Missense_Mutation_p.V18F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	469					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.V469F(1)|p.V475F(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CATTGCATCAGTCCAGACCAA	0.418																																							uc002vee.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1405-1407)GTC>TTC		carbamoyl-phosphate synthetase 1 isoform b							139.0	128.0	132.0					2																	211464141		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211464141G>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1405G>T	2.37:g.211464141G>T	ENSP00000233072:p.Val469Phe					CPS1_uc010fur.2_Missense_Mutation_p.V475F|CPS1_uc010fus.2_Missense_Mutation_p.V18F	p.V469F	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	14	1537	+			469					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1405G>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952438	0.92660	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125;ENST00000451903	D;D;D	0.96619	-4.07;-4.07;-4.07	5.27	5.27	0.74061	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98985	0.9654	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99250	1.0887	10	0.87932	D	0	-5.9912	19.2501	0.93921	0.0:0.0:1.0:0.0	.	479;469	Q59HF8;P31327	.;CPSM_HUMAN	F	475;477;469;469;18	ENSP00000402608:V475F;ENSP00000233072:V469F;ENSP00000406136:V18F	ENSP00000233072:V469F	V	+	1	0	CPS1	211172386	1.000000	0.71417	0.935000	0.37517	0.996000	0.88848	9.307000	0.96226	2.636000	0.89361	0.455000	0.32223	GTC		0.418	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			22	88	1	0	1.10513e-12	0.002299	1.72952e-12	22	88				
SPAG16	79582	broad.mit.edu	37	2	214215336	214215336	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:214215336G>T	ENST00000331683.5	+	7	824	c.729G>T	c.(727-729)ctG>ctT	p.L243L	SPAG16_ENST00000272898.7_Silent_p.L243L|SPAG16_ENST00000447990.1_Silent_p.L243L|SPAG16_ENST00000413312.1_Silent_p.L212L|SPAG16_ENST00000414961.2_Intron|SPAG16_ENST00000374309.3_Silent_p.L149L	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	243					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.L243L(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGAAAATGCTGACCTCCTTGG	0.313																																							uc002veq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(727-729)CTG>CTT		sperm associated antigen 16 isoform 1							104.0	101.0	102.0					2																	214215336		2203	4300	6503	SO:0001819	synonymous_variant	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214215336G>T	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.729G>T	2.37:g.214215336G>T						SPAG16_uc010fuz.1_Silent_p.L94L|SPAG16_uc002ver.2_Silent_p.L189L|SPAG16_uc010zjk.1_Silent_p.L149L|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Silent_p.L212L	p.L243L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	7	821	+		Renal(323;0.00461)	243			Potential.		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	c.729G>T	CCDS2396.1																																																																																				0.313	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		9	76	1	0	6.42651e-13	0.000978	1.011e-12	9	76				
BARD1	580	broad.mit.edu	37	2	215595194	215595194	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:215595194C>A	ENST00000260947.4	-	10	2076	c.1942G>T	c.(1942-1944)Gaa>Taa	p.E648*	BARD1_ENST00000432456.1_Nonsense_Mutation_p.E19*|BARD1_ENST00000449967.2_Nonsense_Mutation_p.E504*	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	648	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E648*(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TACTTTTCTTCCTGTTCACAT	0.353									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002veu.2		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(2)	2						c.(1942-1944)GAA>TAA		BRCA1 associated RING domain 1							116.0	116.0	116.0					2																	215595194		2203	4300	6503	SO:0001587	stop_gained	580	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215595194C>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1942G>T	2.37:g.215595194C>A	ENSP00000260947:p.Glu648*					BARD1_uc010zjm.1_Nonsense_Mutation_p.E504*	p.E648*	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	10	2077	-		Renal(323;0.0243)	648			BRCT 1.		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Nonsense_Mutation	SNP	ENST00000260947.4	37	c.1942G>T	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	C	36	5.832171	0.97003	.	.	ENSG00000138376	ENST00000260947;ENST00000432456;ENST00000449967;ENST00000421162	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.3755	19.9831	0.97336	0.0:1.0:0.0:0.0	.	.	.	.	X	648;19;504;197	.	ENSP00000260947:E648X	E	-	1	0	BARD1	215303439	1.000000	0.71417	0.999000	0.59377	0.814000	0.46013	6.432000	0.73400	2.728000	0.93425	0.650000	0.86243	GAA		0.353	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		11	65	1	0	9.31168e-06	0.001855	1.21334e-05	11	65				
RNF25	64320	broad.mit.edu	37	2	219528862	219528862	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:219528862C>T	ENST00000295704.2	-	10	1638	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	400					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E400K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCCCTTCTCTTGTGGAGGA	0.647																																							uc002vit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1198-1200)GAG>AAG		ring finger protein 25							80.0	95.0	90.0					2																	219528862		2203	4300	6503	SO:0001583	missense	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219528862C>T		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.1198G>A	2.37:g.219528862C>T	ENSP00000295704:p.Glu400Lys					RNF25_uc010fvw.2_Missense_Mutation_p.E288K	p.E400K	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1286	-		Renal(207;0.0474)	400					A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.1198G>A	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161469	0.57368	.	.	ENSG00000163481	ENST00000295704	T	0.48522	0.81	5.37	4.49	0.54785	.	0.461885	0.24330	N	0.039479	T	0.38852	0.1056	L	0.44542	1.39	0.30772	N	0.74296	B	0.13145	0.007	B	0.10450	0.005	T	0.41945	-0.9480	10	0.48119	T	0.1	-16.3486	9.6059	0.39632	0.0:0.8356:0.0:0.1644	.	400	Q96BH1	RNF25_HUMAN	K	400	ENSP00000295704:E400K	ENSP00000295704:E400K	E	-	1	0	RNF25	219237106	0.396000	0.25262	0.999000	0.59377	0.997000	0.91878	0.897000	0.28390	1.489000	0.48450	0.655000	0.94253	GAG		0.647	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		24	184	0	0	0	0.00278	0	24	184				
WNT10A	80326	broad.mit.edu	37	2	219746998	219746998	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:219746998C>T	ENST00000258411.3	+	2	862	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	77					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.R77C(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGTGTGTGCGTCACCCTGA	0.612																																							uc002vjd.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(229-231)CGT>TGT		wingless-type MMTV integration site family,							94.0	87.0	90.0					2																	219746998		2203	4300	6503	SO:0001583	missense	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219746998C>T	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.229C>T	2.37:g.219746998C>T	ENSP00000258411:p.Arg77Cys						p.R77C	NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	692	+		Renal(207;0.0474)	77					Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	c.229C>T	CCDS2426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.973432|3.973432	0.74246|0.74246	.|.	.|.	ENSG00000135925|ENSG00000135925	ENST00000458582|ENST00000258411	.|T	.|0.77098	.|-1.07	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90645|0.90645	0.7066|0.7066	M|M	0.92412|0.92412	3.305|3.305	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77557	.|0.99	D|D	0.93041|0.93041	0.6457|0.6457	5|10	.|0.72032	.|D	.|0.01	.|.	16.8977|16.8977	0.86105|0.86105	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|77	.|Q9GZT5	.|WN10A_HUMAN	V|C	39|77	.|ENSP00000258411:R77C	.|ENSP00000258411:R77C	A|R	+|+	2|1	0|0	WNT10A|WNT10A	219455242|219455242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	3.423000|3.423000	0.52756|0.52756	2.230000|2.230000	0.72887|0.72887	0.462000|0.462000	0.41574|0.41574	GCG|CGT		0.612	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		8	44	0	0	0	0.006214	0	8	44				
SPEG	10290	broad.mit.edu	37	2	220338272	220338272	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:220338272C>G	ENST00000312358.7	+	17	4326	c.4194C>G	c.(4192-4194)atC>atG	p.I1398M	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1398	Ig-like 7.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I1398I(1)|p.I1398M(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AACCAGACATCGTGTATGTGG	0.627																																							uc010fwg.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(4192-4194)ATC>ATG		SPEG complex locus							118.0	126.0	123.0					2																	220338272		2063	4180	6243	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220338272C>G	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4194C>G	2.37:g.220338272C>G	ENSP00000311684:p.Ile1398Met						p.I1398M	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	17	4194	+		Renal(207;0.0183)	1398			Ig-like 7.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.4194C>G	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758942	0.31137	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.66815	-0.23	4.64	-4.12	0.03916	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	1.018300	0.07878	N	0.969052	T	0.48259	0.1490	L	0.27053	0.805	0.36337	D	0.859232	B	0.20550	0.046	B	0.19391	0.025	T	0.23797	-1.0178	10	0.36615	T	0.2	.	7.804	0.29191	0.0:0.3082:0.378:0.3138	.	1398	Q15772	SPEG_HUMAN	M	1398	ENSP00000311684:I1398M	ENSP00000265327:I1398M	I	+	3	3	SPEG	220046516	0.000000	0.05858	0.045000	0.18777	0.945000	0.59286	-2.576000	0.00910	-0.648000	0.05437	-0.368000	0.07277	ATC		0.627	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		22	159	0	0	0	0.00333	0	22	159				
WDFY1	57590	broad.mit.edu	37	2	224763777	224763777	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:224763777C>A	ENST00000233055.4	-	6	598	c.496G>T	c.(496-498)Gac>Tac	p.D166Y		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	166						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)	p.D166Y(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TACTGAGTGTCAAAGTCATAT	0.423																																							uc002vnq.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(496-498)GAC>TAC		WD repeat and FYVE domain containing 1							132.0	112.0	119.0					2																	224763777		2203	4300	6503	SO:0001583	missense	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224763777C>A	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.496G>T	2.37:g.224763777C>A	ENSP00000233055:p.Asp166Tyr						p.D166Y	NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	6	547	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	166			WD 4.		Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	c.496G>T	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313202	0.81358	.	.	ENSG00000085449	ENST00000233055;ENST00000429915	T;T	0.39229	1.23;1.09	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.215400	0.47852	D	0.000212	T	0.49474	0.1559	L	0.56769	1.78	0.80722	D	1	P	0.48503	0.911	P	0.44990	0.466	T	0.53380	-0.8447	10	0.87932	D	0	-19.8502	19.9855	0.97347	0.0:1.0:0.0:0.0	.	166	Q8IWB7	WDFY1_HUMAN	Y	166;123	ENSP00000233055:D166Y;ENSP00000395416:D123Y	ENSP00000233055:D166Y	D	-	1	0	WDFY1	224472021	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	7.266000	0.78452	2.715000	0.92844	0.655000	0.94253	GAC		0.423	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		10	62	1	0	0.00621372	0.006214	0.00673588	10	62				
NYAP2	57624	broad.mit.edu	37	2	226446722	226446722	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:226446722C>A	ENST00000272907.6	+	4	1002	c.589C>A	c.(589-591)Cga>Aga	p.R197R	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	197					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.R197*(1)|p.R197R(1)									CAAACCGAAGCGAAATCCGAA	0.498																																							uc002voe.2		NA																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	ovary(2)|central_nervous_system(1)	3						c.(589-591)CGA>AGA		hypothetical protein LOC57624							118.0	123.0	121.0					2																	226446722		1929	4132	6061	SO:0001819	synonymous_variant	57624							g.chr2:226446722C>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.589C>A	2.37:g.226446722C>A						KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_5'UTR	p.R197R	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	764	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	197					A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.589C>A	CCDS46529.1																																																																																				0.498	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		22	181	1	0	1.50039e-11	0.001882	2.30417e-11	22	181				
TRIP12	9320	broad.mit.edu	37	2	230661452	230661452	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:230661452G>C	ENST00000283943.5	-	24	3624	c.3446C>G	c.(3445-3447)tCa>tGa	p.S1149*	TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.S1197*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.S879*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1149					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.S1149*(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCTGACTCTGAGACTATGCT	0.373																																							uc002vpw.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(3445-3447)TCA>TGA		thyroid hormone receptor interactor 12							91.0	89.0	90.0					2																	230661452		2203	4300	6503	SO:0001587	stop_gained	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230661452G>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3446C>G	2.37:g.230661452G>C	ENSP00000283943:p.Ser1149*					TRIP12_uc002vpx.1_Nonsense_Mutation_p.S1197*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.S879*|TRIP12_uc010zlz.1_RNA	p.S1149*	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	24	3555	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1149					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	ENST00000283943.5	37	c.3446C>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	45	11.334680	0.99548	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7588	0.96306	0.0:0.0:1.0:0.0	.	.	.	.	X	1149;879;1197	.	ENSP00000283943:S1149X	S	-	2	0	TRIP12	230369696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.395000	0.97266	2.654000	0.90174	0.655000	0.94253	TCA		0.373	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		12	59	0	0	0	0.001368	0	12	59				
TRPM8	79054	broad.mit.edu	37	2	234878914	234878914	+	Silent	SNP	C	C	A	rs199649812		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:234878914C>A	ENST00000324695.4	+	17	2239	c.2199C>A	c.(2197-2199)tcC>tcA	p.S733S	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	733					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.S733S(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCTTCACCTCCCCCTTCGTGG	0.537																																							uc002vvh.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)	4						c.(2197-2199)TCC>TCA		transient receptor potential cation channel,	Menthol(DB00825)						475.0	394.0	421.0					2																	234878914		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234878914C>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2199C>A	2.37:g.234878914C>A						TRPM8_uc010fyj.2_Intron	p.S733S	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	17	2239	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	733			Extracellular (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.2199C>A	CCDS33407.1																																																																																				0.537	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		45	304	1	0	1.03325e-14	0.002852	1.66909e-14	45	304				
AGAP1	116987	broad.mit.edu	37	2	236957737	236957737	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:236957737C>T	ENST00000304032.8	+	16	2506	c.1926C>T	c.(1924-1926)ctC>ctT	p.L642L	AGAP1_ENST00000428334.2_Silent_p.L481L|AGAP1_ENST00000409538.1_Silent_p.L854L|AGAP1_ENST00000336665.5_Silent_p.L589L	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	642	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.L642L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGGGAGCCCTCATGTGCATCG	0.537																																							uc002vvs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1924-1926)CTC>CTT		centaurin, gamma 2 isoform 1							195.0	164.0	175.0					2																	236957737		2203	4300	6503	SO:0001819	synonymous_variant	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236957737C>T	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1926C>T	2.37:g.236957737C>T						AGAP1_uc002vvt.2_Silent_p.L589L	p.L642L	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN			16	2521	+			642			C4-type.|Arf-GAP.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	c.1926C>T	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427301	0.25726	.	.	ENSG00000157985	ENST00000418654;ENST00000453371	.	.	.	5.48	4.59	0.56863	.	.	.	.	.	T	0.68751	0.3035	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66842	-0.5821	4	.	.	.	.	13.6805	0.62481	0.0:0.9265:0.0:0.0735	.	.	.	.	Y	195;44	.	.	H	+	1	0	AGAP1	236622476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.844000	0.27654	2.576000	0.86940	0.655000	0.94253	CAT		0.537	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		6	84	0	0	0	0.001984	0	6	84				
IQCA1	79781	broad.mit.edu	37	2	237272522	237272522	+	Silent	SNP	G	G	A	rs367546535		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:237272522G>A	ENST00000409907.3	-	15	2044	c.1770C>T	c.(1768-1770)acC>acT	p.T590T	IQCA1_ENST00000431676.2_Silent_p.T549T|IQCA1_ENST00000309507.5_Silent_p.T587T	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	590							ATP binding (GO:0005524)	p.T590T(1)|p.T598T(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CTCCCGTTTCGGTGCAGATGG	0.517																																							uc002vvz.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1768-1770)ACC>ACT		IQ motif containing with AAA domain 1		G		2,4000		0,2,1999	181.0	178.0	179.0		1770	-7.0	0.8	2		179	0,8310		0,0,4155	no	coding-synonymous	IQCA1	NM_024726.3		0,2,6154	AA,AG,GG		0.0,0.05,0.0162		590/823	237272522	2,12310	2001	4155	6156	SO:0001819	synonymous_variant	79781						ATP binding	g.chr2:237272522G>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1770C>T	2.37:g.237272522G>A						IQCA1_uc002vwb.2_Silent_p.T598T|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Silent_p.T549T	p.T590T	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN			15	1952	-			590					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	ENST00000409907.3	37	c.1770C>T	CCDS46549.1																																																																																				0.517	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		6	111	0	0	0	0.001168	0	6	111				
SLC52A3	113278	broad.mit.edu	37	20	744288	744288	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:744288G>A	ENST00000217254.7	-	3	1168	c.927C>T	c.(925-927)ttC>ttT	p.F309F	SLC52A3_ENST00000381944.3_Silent_p.F309F|SLC52A3_ENST00000473664.1_Intron	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	309					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)	p.F309F(1)									GCGCGTTGACGAAGGCCACCA	0.637																																							uc002wed.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(925-927)TTC>TTT		hypothetical protein LOC113278 precursor							117.0	98.0	105.0					20																	744288		2203	4300	6503	SO:0001819	synonymous_variant	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:744288G>A	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.927C>T	20.37:g.744288G>A						C20orf54_uc002wee.2_Silent_p.F309F	p.F309F	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN			3	1266	-			309			Helical; (Potential).		A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	ENST00000217254.7	37	c.927C>T	CCDS13007.1																																																																																				0.637	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		8	68	0	0	0	0.006214	0	8	68				
ADAM33	80332	broad.mit.edu	37	20	3655286	3655286	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:3655286G>T	ENST00000356518.2	-	6	706	c.465C>A	c.(463-465)ccC>ccA	p.P155P	ADAM33_ENST00000466620.1_5'Flank|ADAM33_ENST00000350009.2_Silent_p.P155P|ADAM33_ENST00000379861.4_Silent_p.P155P	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	155					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P155P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGGAGCCCCGGGGTGGCCAGG	0.607																																							uc002wit.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(463-465)CCC>CCA		ADAM metallopeptidase domain 33 isoform alpha							77.0	89.0	85.0					20																	3655286		2203	4300	6503	SO:0001819	synonymous_variant	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3655286G>T	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.465C>A	20.37:g.3655286G>T						ADAM33_uc002wir.1_Silent_p.P155P|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Silent_p.P155P|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Silent_p.P167P|ADAM33_uc010zqh.1_Silent_p.P155P	p.P155P	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			6	552	-			155			Extracellular (Potential).		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Silent	SNP	ENST00000356518.2	37	c.465C>A	CCDS13058.1																																																																																				0.607	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		16	130	1	0	2.23348e-06	0.004007	2.96158e-06	16	130				
C20orf196	149840	broad.mit.edu	37	20	5843764	5843764	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:5843764G>T	ENST00000303142.6	+	3	360	c.273G>T	c.(271-273)gaG>gaT	p.E91D		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	91								p.E91D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						AGAAGGAAGAGGATGATGGCC	0.473																																							uc002wmf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(271-273)GAG>GAT		hypothetical protein LOC149840							70.0	74.0	72.0					20																	5843764		2203	4300	6503	SO:0001583	missense	149840							g.chr20:5843764G>T	AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.273G>T	20.37:g.5843764G>T	ENSP00000305875:p.Glu91Asp						p.E91D	NM_152504	NP_689717	Q8IYI0	CT196_HUMAN			3	360	+			91					A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	ENST00000303142.6	37	c.273G>T	CCDS13091.1	.	.	.	.	.	.	.	.	.	.	G	5.194	0.221400	0.09863	.	.	ENSG00000171984	ENST00000303142;ENST00000378971;ENST00000445603;ENST00000442185	T;T;T	0.59224	0.28;0.28;0.28	4.9	-6.33	0.01988	.	0.416504	0.22684	N	0.056913	T	0.35998	0.0951	L	0.39397	1.21	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.07888	-1.0749	10	0.46703	T	0.11	-2.3407	4.1275	0.10134	0.4005:0.0:0.2528:0.3467	.	91	Q8IYI0	CT196_HUMAN	D	91;91;91;138	ENSP00000305875:E91D;ENSP00000399331:E91D;ENSP00000410534:E138D	ENSP00000305875:E91D	E	+	3	2	C20orf196	5791764	0.211000	0.23529	0.000000	0.03702	0.000000	0.00434	-0.859000	0.04277	-1.353000	0.02191	-2.110000	0.00354	GAG		0.473	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504		8	43	1	0	5.18039e-06	0.00308	6.79926e-06	8	43				
CSTL1	128817	broad.mit.edu	37	20	23420937	23420937	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:23420937G>T	ENST00000246020.2	+	1	53	c.33G>T	c.(31-33)ctG>ctT	p.L11L	CSTL1_ENST00000347397.1_Silent_p.L11L|CSTL1_ENST00000472140.1_3'UTR			Q9H114	CST1L_HUMAN	cystatin-like 1	11						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.L11L(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					ACCCCCTGCTGCTGCTGATTG	0.552																																							uc002wte.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(31-33)CTG>CTT		cystatin-like 1 precursor							103.0	88.0	93.0					20																	23420937		2203	4300	6503	SO:0001819	synonymous_variant	128817					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23420937G>T	AL096677	CCDS13153.1	20p11.21	2012-08-14			ENSG00000125823	ENSG00000125823			15958	protein-coding gene	gene with protein product						20565543	Standard	NM_138283		Approved	dJ322G13.4, CTES1	uc002wte.3	Q9H114	OTTHUMG00000032068	ENST00000246020.2:c.33G>T	20.37:g.23420937G>T						CSTL1_uc010zsu.1_RNA|CSTL1_uc010zsv.1_RNA	p.L11L	NM_138283	NP_612140	Q9H114	CST1L_HUMAN			2	279	+	Colorectal(13;0.0993)|Lung NSC(19;0.235)		11					Q17RA8|Q64FF7	Silent	SNP	ENST00000246020.2	37	c.33G>T	CCDS13153.1																																																																																				0.552	CSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078328.1			16	66	1	0	0.00498961	0.00499	0.005435	16	66				
NOL4L	140688	broad.mit.edu	37	20	31043985	31043985	+	Missense_Mutation	SNP	G	G	A	rs541553258	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:31043985G>A	ENST00000359676.5	-	3	465	c.323C>T	c.(322-324)tCg>tTg	p.S108L	C20orf112_ENST00000475781.1_5'UTR|RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		108						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S108L(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						GCAGCCATCCGAGGGGTAGGA	0.667													G|||	4	0.000798722	0.0	0.0	5008	,	,		17380	0.0		0.0	False		,,,				2504	0.0041						uc002wxu.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(322-324)TCG>TTG		hypothetical protein LOC140688							57.0	59.0	59.0					20																	31043985		2203	4298	6501	SO:0001583	missense	140688							g.chr20:31043985G>A																												ENST00000359676.5:c.323C>T	20.37:g.31043985G>A	ENSP00000352704:p.Ser108Leu					C20orf112_uc010gec.2_5'UTR	p.S108L	NM_080616	NP_542183	Q96MY1	CT112_HUMAN			3	480	-			108					Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	ENST00000359676.5	37	c.323C>T	CCDS13202.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339905	0.24339	.	.	ENSG00000197183	ENST00000359676;ENST00000397984	.	.	.	5.04	4.09	0.47781	.	0.696787	0.13706	N	0.368460	T	0.32346	0.0826	L	0.27053	0.805	0.80722	D	1	B	0.30824	0.296	B	0.19148	0.024	T	0.10776	-1.0615	9	0.05959	T	0.93	-8.1511	11.9492	0.52946	0.0839:0.0:0.9161:0.0	.	108	Q96MY1	CT112_HUMAN	L	108	.	ENSP00000352704:S108L	S	-	2	0	C20orf112	30507646	0.979000	0.34478	0.881000	0.34555	0.029000	0.11900	6.198000	0.72106	2.334000	0.79466	0.561000	0.74099	TCG		0.667	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2			12	96	0	0	0	0.000978	0	12	96				
GDF5	8200	broad.mit.edu	37	20	34022057	34022057	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:34022057T>G	ENST00000374372.1	-	4	1659	c.1156A>C	c.(1156-1158)Act>Cct	p.T386P	GDF5OS_ENST00000374375.1_Missense_Mutation_p.V34G|GDF5_ENST00000374369.3_Missense_Mutation_p.T386P			P43026	GDF5_HUMAN	growth differentiation factor 5	386					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)	p.V34G(2)|p.T386P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCCTGGCGAGTGGCCAGTGGG	0.577																																							uc002xck.1		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(1156-1158)ACT>CCT		growth differentiation factor 5 preproprotein							77.0	80.0	79.0					20																	34022057		2203	4300	6503	SO:0001583	missense	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34022057T>G	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1156A>C	20.37:g.34022057T>G	ENSP00000363492:p.Thr386Pro					GDF5_uc010gfc.1_Missense_Mutation_p.T386P|uc002xcj.2_Missense_Mutation_p.S156R|GDF5_uc010zvc.1_Missense_Mutation_p.T386P	p.T386P	NM_000557	NP_000548	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		2	1475	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		386					E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	c.1156A>C	CCDS13254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.57|12.57	1.979105|1.979105	0.34942|0.34942	.|.	.|.	ENSG00000125965|ENSG00000204183	ENST00000374369;ENST00000374372|ENST00000374375	T;T|.	0.79940|.	-1.32;-1.32|.	4.27|4.27	3.15|3.15	0.36227|0.36227	Transforming growth factor-beta, C-terminal (1);|.	0.238663|.	0.32093|.	N|.	0.006596|.	T|T	0.41719|0.41719	0.1171|0.1171	N|N	0.14661|0.14661	0.345|0.345	0.37520|0.37520	D|D	0.917489|0.917489	D;D|.	0.64830|.	0.962;0.994|.	P;P|.	0.59221|.	0.756;0.854|.	T|T	0.49542|0.49542	-0.8929|-0.8929	10|6	0.33141|0.87932	T|D	0.24|0	.|.	9.84|9.84	0.40993|0.40993	0.1628:0.0:0.0:0.8372|0.1628:0.0:0.0:0.8372	.|.	386;386|.	F1T0J1;P43026|.	.;GDF5_HUMAN|.	P|G	386|34	ENSP00000363489:T386P;ENSP00000363492:T386P|.	ENSP00000363489:T386P|ENSP00000363495:V34G	T|V	-|+	1|2	0|0	GDF5|GDF5OS	33485471|33485471	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.942000|0.942000	0.58702|0.58702	3.717000|3.717000	0.54911|0.54911	0.651000|0.651000	0.30788|0.30788	0.260000|0.260000	0.18958|0.18958	ACT|GTG		0.577	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			15	143	0	0	0	0.010504	0	15	143				
FAM83D	81610	broad.mit.edu	37	20	37580296	37580296	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:37580296C>T	ENST00000217429.4	+	4	1022	c.981C>T	c.(979-981)atC>atT	p.I327I		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	297					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.I327I(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CCAAGCCCATCAGCCCCAAAC	0.502																																							uc002xjg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(979-981)ATC>ATT		hypothetical protein LOC81610							117.0	119.0	119.0					20																	37580296		2010	4188	6198	SO:0001819	synonymous_variant	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580296C>T	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.981C>T	20.37:g.37580296C>T							p.I327I	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			4	1022	+		Myeloproliferative disorder(115;0.00878)	297					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Silent	SNP	ENST00000217429.4	37	c.981C>T	CCDS42872.1																																																																																				0.502	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			9	80	0	0	0	0.004482	0	9	80				
PABPC1L	80336	broad.mit.edu	37	20	43559182	43559182	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:43559182G>C	ENST00000217073.2	+	8	1054	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000217075.2_5'Flank|PABPC1L_ENST00000255136.3_Missense_Mutation_p.E352Q|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217074.4_3'UTR|PABPC1L_ENST00000372824.1_5'Flank|PABPC1L_ENST00000372819.1_5'Flank			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	352	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E352Q(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GGCCGTGACAGAGATGAACGG	0.567																																							uc010ggv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1054-1056)GAG>CAG		poly(A)-binding protein, cytoplasmic 1-like							192.0	183.0	186.0					20																	43559182		1568	3582	5150	SO:0001583	missense	80336						nucleotide binding|RNA binding	g.chr20:43559182G>C	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1054G>C	20.37:g.43559182G>C	ENSP00000217073:p.Glu352Gln					PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.2_5'Flank	p.E352Q	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN			8	1136	+			352			RRM 4.		Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	c.1054G>C	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	G	35	5.447660	0.96205	.	.	ENSG00000101104	ENST00000255136;ENST00000217073	T;T	0.16897	2.31;2.31	5.81	5.81	0.92471	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	L	0.41079	1.255	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.02512	-1.1148	10	0.72032	D	0.01	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	352	Q4VXU2	PAP1L_HUMAN	Q	352	ENSP00000255136:E352Q;ENSP00000217073:E352Q	ENSP00000217073:E352Q	E	+	1	0	PABPC1L	42992596	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.835000	0.99442	2.746000	0.94184	0.655000	0.94253	GAG		0.567	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			35	208	0	0	0	0.003271	0	35	208				
CDH22	64405	broad.mit.edu	37	20	44803585	44803585	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:44803585A>T	ENST00000372262.3	-	11	2447	c.2047T>A	c.(2047-2049)Tac>Aac	p.Y683N	CDH22_ENST00000537909.1_Missense_Mutation_p.Y683N	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	683					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y683N(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GACATGTCGTAGGCTTCGGTG	0.692																																							uc002xrm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2047-2049)TAC>AAC		cadherin 22 precursor							26.0	28.0	27.0					20																	44803585		2137	4245	6382	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44803585A>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.2047T>A	20.37:g.44803585A>T	ENSP00000361336:p.Tyr683Asn					CDH22_uc010ghk.1_Missense_Mutation_p.Y683N	p.Y683N	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			11	2448	-		Myeloproliferative disorder(115;0.0122)	683			Cytoplasmic (Potential).		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.2047T>A	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.786652	0.90367	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.81415	-1.49;-1.49	4.03	4.03	0.46877	Cadherin, cytoplasmic domain (1);	0.000000	0.64402	D	0.000001	D	0.89976	0.6871	M	0.90082	3.085	0.50632	D	0.999885	D	0.69078	0.997	D	0.68039	0.955	D	0.91656	0.5338	10	0.87932	D	0	.	11.9296	0.52839	1.0:0.0:0.0:0.0	.	683	Q9UJ99	CAD22_HUMAN	N	683	ENSP00000361336:Y683N;ENSP00000437790:Y683N	ENSP00000361336:Y683N	Y	-	1	0	CDH22	44236992	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.889000	0.92470	1.691000	0.51100	0.460000	0.39030	TAC		0.692	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		4	39	0	0	0	0.000602	0	4	39				
PREX1	57580	broad.mit.edu	37	20	47265957	47265957	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:47265957C>A	ENST00000371941.3	-	25	3208	c.3186G>T	c.(3184-3186)cgG>cgT	p.R1062R	PREX1_ENST00000396220.1_Silent_p.R1062R	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1062					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1062R(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGCTGAGGCCCCGGTCTTCCT	0.602																																							uc002xtw.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(3184-3186)CGG>CGT		phosphatidylinositol-3,4,							70.0	70.0	70.0					20																	47265957		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47265957C>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3186G>T	20.37:g.47265957C>A						PREX1_uc002xtv.1_Silent_p.R359R	p.R1062R	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		25	3209	-			1062					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.3186G>T	CCDS13410.1																																																																																				0.602	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		7	64	1	0	2.0095e-06	0.001984	2.67637e-06	7	64				
FAM65C	140876	broad.mit.edu	37	20	49209638	49209638	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:49209638G>A	ENST00000327979.2	-	18	2707	c.2296C>T	c.(2296-2298)Cac>Tac	p.H766Y	FAM65C_ENST00000045083.2_Missense_Mutation_p.H766Y|FAM65C_ENST00000535356.1_Missense_Mutation_p.H770Y			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	766								p.H766Y(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGTAGCTGTGAAACTGGAAC	0.607																																							uc002xvm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2296-2298)CAC>TAC		hypothetical protein LOC140876							88.0	90.0	90.0					20																	49209638		1980	4169	6149	SO:0001583	missense	140876							g.chr20:49209638G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.2296C>T	20.37:g.49209638G>A	ENSP00000332663:p.His766Tyr					FAM65C_uc010zyt.1_Missense_Mutation_p.H770Y|FAM65C_uc010zyu.1_RNA	p.H766Y	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			18	2614	-			766					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.2296C>T	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.320916	0.01320	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.77358	-1.09;-1.09;-1.09	4.91	4.91	0.64330	.	0.714893	0.12147	U	0.495278	T	0.60586	0.2280	L	0.31804	0.96	0.19775	N	0.999957	B;B	0.12013	0.004;0.005	B;B	0.11329	0.006;0.002	T	0.52660	-0.8546	10	0.02654	T	1	-15.7127	6.7083	0.23262	0.2251:0.0:0.7749:0.0	.	770;766	F5H0X2;Q96MK2	.;FA65C_HUMAN	Y	766;766;770	ENSP00000332663:H766Y;ENSP00000045083:H766Y;ENSP00000439802:H770Y	ENSP00000045083:H766Y	H	-	1	0	FAM65C	48643045	0.992000	0.36948	0.708000	0.30435	0.377000	0.30045	2.948000	0.49066	2.428000	0.82296	0.561000	0.74099	CAC		0.607	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			13	94	0	0	0	0.001368	0	13	94				
TSHZ2	128553	broad.mit.edu	37	20	51872567	51872567	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:51872567A>T	ENST00000371497.5	+	2	3457	c.2570A>T	c.(2569-2571)cAa>cTa	p.Q857L	TSHZ2_ENST00000603338.2_Missense_Mutation_p.Q854L|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.Q854L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	857					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q857L(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTGATTCTACAAGCCCAGTTT	0.493																																							uc002xwo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(2569-2571)CAA>CTA		teashirt zinc finger homeobox 2							58.0	59.0	59.0					20																	51872567		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872567A>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2570A>T	20.37:g.51872567A>T	ENSP00000360552:p.Gln857Leu						p.Q857L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3526	+			857			Homeobox; atypical.		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2570A>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342540	0.61073	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.25749	1.79;1.78	5.52	5.52	0.82312	Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	L	0.49126	1.545	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.42899	-0.9424	10	0.87932	D	0	0.0573	15.657	0.77144	1.0:0.0:0.0:0.0	.	857	Q9NRE2	TSH2_HUMAN	L	857;854;383	ENSP00000360552:Q857L;ENSP00000333114:Q854L	ENSP00000333114:Q854L	Q	+	2	0	TSHZ2	51305974	1.000000	0.71417	0.980000	0.43619	0.490000	0.33462	8.956000	0.93066	2.096000	0.63516	0.523000	0.50628	CAA		0.493	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		9	54	0	0	0	0.006214	0	9	54				
TUBB1	81027	broad.mit.edu	37	20	57599127	57599127	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:57599127G>A	ENST00000217133.1	+	4	914	c.645G>A	c.(643-645)ctG>ctA	p.L215L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	215					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.L215L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TCCGTACCCTGAAGCTGACGA	0.547																																							uc002yak.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(643-645)CTG>CTA		beta tubulin 1, class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						144.0	127.0	133.0					20																	57599127		2203	4300	6503	SO:0001819	synonymous_variant	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57599127G>A	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.645G>A	20.37:g.57599127G>A							p.L215L	NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	914	+	all_lung(29;0.00711)		215						Silent	SNP	ENST00000217133.1	37	c.645G>A	CCDS13475.1																																																																																				0.547	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		12	114	0	0	0	0.003163	0	12	114				
CDH4	1002	broad.mit.edu	37	20	60511823	60511823	+	Missense_Mutation	SNP	C	C	A	rs139936391	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:60511823C>A	ENST00000360469.5	+	16	2661	c.2573C>A	c.(2572-2574)aCg>aAg	p.T858K	CDH4_ENST00000543233.1_Missense_Mutation_p.T784K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	858					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T858K(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AACGACCCCACGGCACCCCCC	0.637																																							uc002ybn.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(2572-2574)ACG>AAG		cadherin 4, type 1 preproprotein							46.0	45.0	45.0					20																	60511823		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511823C>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2573C>A	20.37:g.60511823C>A	ENSP00000353656:p.Thr858Lys					CDH4_uc002ybp.1_Missense_Mutation_p.T784K|uc002ybr.1_5'Flank	p.T858K	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		16	2587	+			858			Cytoplasmic (Potential).		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2573C>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084951	0.76642	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.77229	-1.08;-1.08	4.49	4.49	0.54785	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.89399	0.6704	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91089	0.4905	9	.	.	.	.	17.1925	0.86883	0.0:1.0:0.0:0.0	.	858	P55283	CADH4_HUMAN	K	858;766;784	ENSP00000353656:T858K;ENSP00000443301:T784K	.	T	+	2	0	CDH4	59945218	1.000000	0.71417	0.916000	0.36221	0.306000	0.27790	7.597000	0.82733	2.068000	0.61886	0.467000	0.42956	ACG		0.637	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		4	22	1	0	3.59834e-05	0.001168	4.47562e-05	4	22				
LAMA5	3911	broad.mit.edu	37	20	60889909	60889909	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:60889909G>A	ENST00000252999.3	-	60	8208	c.8142C>T	c.(8140-8142)gcC>gcT	p.A2714A		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2714	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.A2714A(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCCAATGCTGGCGGACAGGG	0.672																																							uc002ycq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(8140-8142)GCC>GCT		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						60.0	70.0	67.0					20																	60889909		2203	4298	6501	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60889909G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8142C>T	20.37:g.60889909G>A							p.A2714A	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		60	8209	-	Breast(26;1.57e-08)		2714			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.8142C>T	CCDS33502.1																																																																																				0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		11	98	0	0	0	0.001368	0	11	98				
COL9A3	1299	broad.mit.edu	37	20	61468561	61468561	+	Missense_Mutation	SNP	G	G	A	rs140377811		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:61468561G>A	ENST00000343916.3	+	30	1733	c.1730G>A	c.(1729-1731)cGa>cAa	p.R577Q	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	577	Triple-helical region 2 (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.R577Q(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCTGGCGCTCGAGGACCCCCT	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		12760	0.0		0.0	False		,,,				2504	0.001						uc002ydm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1729-1731)CGA>CAA		alpha 3 type IX collagen precursor		G	GLN/ARG	0,4404		0,0,2202	32.0	43.0	40.0		1730	4.8	1.0	20	dbSNP_134	40	2,8590		0,2,4294	no	missense	COL9A3	NM_001853.3	43	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	577/685	61468561	2,12994	2202	4296	6498	SO:0001583	missense	1299				axon guidance	collagen type IX		g.chr20:61468561G>A	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1730G>A	20.37:g.61468561G>A	ENSP00000341640:p.Arg577Gln					COL9A3_uc002ydn.2_Missense_Mutation_p.R71Q	p.R577Q	NM_001853	NP_001844	Q14050	CO9A3_HUMAN			30	1733	+	Breast(26;5.68e-08)		577			Triple-helical region 2 (COL2).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	c.1730G>A	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869251	0.91587	0.0	2.33E-4	ENSG00000092758	ENST00000343916	D	0.94184	-3.37	4.8	4.8	0.61643	.	0.068437	0.64402	D	0.000012	D	0.94192	0.8136	L	0.35854	1.095	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.978	D	0.91738	0.5402	10	0.13470	T	0.59	.	17.843	0.88720	0.0:0.0:1.0:0.0	.	80;577	Q9BT15;Q14050	.;CO9A3_HUMAN	Q	577	ENSP00000341640:R577Q	ENSP00000341640:R577Q	R	+	2	0	COL9A3	60939006	1.000000	0.71417	0.997000	0.53966	0.924000	0.55760	4.304000	0.59104	2.211000	0.71520	0.561000	0.74099	CGA		0.672	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		9	77	0	0	0	0.004482	0	9	77				
KCNQ2	3785	broad.mit.edu	37	20	62038676	62038676	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:62038676C>A	ENST00000359125.2	-	17	2114	c.1940G>T	c.(1939-1941)cGg>cTg	p.R647L	KCNQ2_ENST00000359689.1_Missense_Mutation_p.R647L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R619L|KCNQ2_ENST00000344462.4_Missense_Mutation_p.R616L|KCNQ2_ENST00000354587.3_Missense_Mutation_p.R655L|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R629L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R655L	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	647					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)	p.R647Q(1)|p.R647L(1)		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)	GATGCCCATCCGCTGCATGTA	0.642																																							uc002yey.1		NA																	2	Substitution - Missense(2)		lung(1)|prostate(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1939-1941)CGG>CTG		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						30.0	34.0	32.0					20																	62038676		2200	4298	6498	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62038676C>A	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.1940G>T	20.37:g.62038676C>A	ENSP00000352035:p.Arg647Leu					KCNQ2_uc002yez.1_Missense_Mutation_p.R616L|KCNQ2_uc002yfa.1_Missense_Mutation_p.R629L|KCNQ2_uc002yfb.1_Missense_Mutation_p.R619L	p.R647L	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		17	2117	-	all_cancers(38;1.24e-11)		647			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.1940G>T	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640235	0.87859	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	D;D;D;D;D;D;D;D;D	0.99656	-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31	5.06	5.06	0.68205	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.071069	0.56097	D	0.000031	D	0.99339	0.9768	L	0.43152	1.355	0.51233	D	0.999917	D;D;D;D	0.69078	0.996;0.996;0.996;0.997	D;D;D;D	0.69479	0.94;0.94;0.94;0.964	D	0.99453	1.0941	10	0.62326	D	0.03	-21.2257	18.4055	0.90535	0.0:1.0:0.0:0.0	.	619;629;616;647	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	L	629;647;617;655;647;616;619;643;655	ENSP00000349789:R629L;ENSP00000352035:R647L;ENSP00000359246:R617L;ENSP00000346601:R655L;ENSP00000352718:R647L;ENSP00000399612:R616L;ENSP00000353668:R619L;ENSP00000339611:R643L;ENSP00000359244:R655L	ENSP00000339611:R643L	R	-	2	0	KCNQ2	61509120	1.000000	0.71417	0.999000	0.59377	0.870000	0.49936	7.513000	0.81739	2.359000	0.80004	0.491000	0.48974	CGG		0.642	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		7	38	1	0	0.00448238	0.004482	0.00490617	7	38				
C21orf91	54149	broad.mit.edu	37	21	19190600	19190600	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:19190600C>G	ENST00000400558.3	-	2	126	c.36G>C	c.(34-36)ttG>ttC	p.L12F	C21orf91_ENST00000400559.3_Missense_Mutation_p.L12F|C21orf91_ENST00000284881.4_Missense_Mutation_p.L12F|C21orf91_ENST00000493464.1_5'UTR	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91									p.L12F(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		TGTCATCATTCAAATCAATGT	0.383																																							uc002yko.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(34-36)TTG>TTC		early undifferentiated retina and lens isoform							190.0	175.0	180.0					21																	19190600		1876	4106	5982	SO:0001583	missense	54149							g.chr21:19190600C>G	AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.36G>C	21.37:g.19190600C>G	ENSP00000383403:p.Leu12Phe					C21orf91_uc002ykq.3_Missense_Mutation_p.L12F|C21orf91_uc002ykp.3_Missense_Mutation_p.L12F	p.L12F	NM_001100420	NP_001093890	Q9NYK6	EURL_HUMAN		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	2	127	-			12						Missense_Mutation	SNP	ENST00000400558.3	37	c.36G>C	CCDS42909.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408695	0.83340	.	.	ENSG00000154642	ENST00000284881;ENST00000400559;ENST00000400558;ENST00000405964	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.13	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.38802	-0.9644	9	.	.	.	-0.1818	11.5196	0.50543	0.0:0.9121:0.0:0.0879	.	12;12	Q9NYK6-3;Q9NYK6	.;EURL_HUMAN	F	12	ENSP00000284881:L12F;ENSP00000383404:L12F;ENSP00000383403:L12F;ENSP00000385566:L12F	.	L	-	3	2	C21orf91	18112471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.240000	0.51368	1.302000	0.44855	0.655000	0.94253	TTG		0.383	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	NM_017447		7	104	0	0	0	0.00308	0	7	104				
KRTAP22-1	337979	broad.mit.edu	37	21	31973475	31973475	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:31973475C>T	ENST00000334680.2	+	1	62	c.36C>T	c.(34-36)ggC>ggT	p.G12G	KRTAP6-2_ENST00000334897.3_5'Flank	NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	12						intermediate filament (GO:0005882)		p.G12G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						GTGGCCAGGGCTATGCCAAAG	0.468																																							uc011add.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(34-36)GGC>GGT		keratin associated protein 22-1							171.0	157.0	162.0					21																	31973475		2203	4300	6503	SO:0001819	synonymous_variant	337979					intermediate filament		g.chr21:31973475C>T	AP001708	CCDS13601.1	21q22.1	2011-02-10			ENSG00000186924	ENSG00000186924		"""Keratin associated proteins"""	18947	protein-coding gene	gene with protein product						12359730	Standard	NM_181620		Approved	KAP22.1	uc011add.2	Q3MIV0	OTTHUMG00000057778	ENST00000334680.2:c.36C>T	21.37:g.31973475C>T						KRTAP6-2_uc011adc.1_5'Flank	p.G12G	NM_181620	NP_853651	Q3MIV0	KR221_HUMAN			1	36	+			12						Silent	SNP	ENST00000334680.2	37	c.36C>T	CCDS13601.1																																																																																				0.468	KRTAP22-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128230.2			10	166	0	0	0	0.008291	0	10	166				
KRTAP6-1	337966	broad.mit.edu	37	21	31986066	31986066	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:31986066G>C	ENST00000329122.2	-	1	183	c.158C>G	c.(157-159)tCc>tGc	p.S53C	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	53						cytosol (GO:0005829)|intermediate filament (GO:0005882)		p.S53C(1)		breast(2)|endometrium(1)|lung(7)	10						GAGGGAGCGGGAGCCATAGCC	0.582																																							uc002yop.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(157-159)TCC>TGC		keratin associated protein 6-1							115.0	120.0	118.0					21																	31986066		2203	4300	6503	SO:0001583	missense	337966					cytosol|intermediate filament		g.chr21:31986066G>C	AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"""Keratin associated proteins"""	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.158C>G	21.37:g.31986066G>C	ENSP00000332690:p.Ser53Cys					KRTAP20-1_uc011ade.1_5'Flank	p.S53C	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN			1	158	-			53						Missense_Mutation	SNP	ENST00000329122.2	37	c.158C>G	CCDS13602.1	.	.	.	.	.	.	.	.	.	.	G	1.874	-0.459451	0.04508	.	.	ENSG00000184724	ENST00000329122	T	0.26373	1.74	4.88	-1.5	0.08691	.	0.836071	0.09549	N	0.787191	T	0.35941	0.0949	.	.	.	0.09310	N	1	D	0.65815	0.995	P	0.58873	0.847	T	0.26815	-1.0092	9	0.87932	D	0	.	5.5121	0.16886	0.3984:0.0:0.4727:0.1289	.	53	Q3LI64	KRA61_HUMAN	C	53	ENSP00000332690:S53C	ENSP00000332690:S53C	S	-	2	0	KRTAP6-1	30907937	0.104000	0.21937	0.012000	0.15200	0.152000	0.21847	-0.046000	0.11983	-0.098000	0.12285	-0.163000	0.13421	TCC		0.582	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128240.2	NM_181602		11	120	0	0	0	0.000978	0	11	120				
TIAM1	7074	broad.mit.edu	37	21	32492988	32492988	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:32492988G>A	ENST00000286827.3	-	29	4945	c.4474C>T	c.(4474-4476)Cag>Tag	p.Q1492*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.Q1432*	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1492					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q1492*(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCTCATACTGAGCAAGATCA	0.562																																							uc002yow.1		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(4474-4476)CAG>TAG		T-cell lymphoma invasion and metastasis 1							115.0	96.0	103.0					21																	32492988		2203	4300	6503	SO:0001587	stop_gained	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32492988G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4474C>T	21.37:g.32492988G>A	ENSP00000286827:p.Gln1492*					TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Nonsense_Mutation_p.Q1432*	p.Q1492*	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			29	4946	-			1492					B7ZLR6|F5GZ53|Q17RT7	Nonsense_Mutation	SNP	ENST00000286827.3	37	c.4474C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	47	13.382275	0.99738	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	.	.	.	5.14	5.14	0.70334	.	0.149680	0.47455	D	0.000237	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.6336	0.91369	0.0:0.0:1.0:0.0	.	.	.	.	X	1492;1432	.	ENSP00000286827:Q1492X	Q	-	1	0	TIAM1	31414859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.521000	0.67086	2.377000	0.81083	0.655000	0.94253	CAG		0.562	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		7	49	0	0	0	0.001984	0	7	49				
DOPEY2	9980	broad.mit.edu	37	21	37661499	37661499	+	Silent	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:37661499T>C	ENST00000399151.3	+	35	6595	c.6510T>C	c.(6508-6510)ttT>ttC	p.F2170F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2170					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.F2170F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCCATTATTTCAAATGTAAG	0.383																																							uc002yvg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(6508-6510)TTT>TTC		pad-1-like							78.0	73.0	75.0					21																	37661499		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37661499T>C	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6510T>C	21.37:g.37661499T>C						DOPEY2_uc011aeb.1_Silent_p.F2119F	p.F2170F	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			35	6589	+			2170					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.6510T>C	CCDS13643.1																																																																																				0.383	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		17	58	0	0	0	0.001882	0	17	58				
DSCAM	1826	broad.mit.edu	37	21	41539175	41539175	+	Silent	SNP	T	T	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:41539175T>G	ENST00000400454.1	-	16	3465	c.2988A>C	c.(2986-2988)atA>atC	p.I996I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	996	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.I996I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTGAGATGATATAGGCTCCA	0.522																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(2986-2988)ATA>ATC		Down syndrome cell adhesion molecule isoform							106.0	106.0	106.0					21																	41539175		1918	4137	6055	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41539175T>G	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2988A>C	21.37:g.41539175T>G						DSCAM_uc002yyr.1_RNA	p.I996I	NM_001389	NP_001380	O60469	DSCAM_HUMAN			16	3440	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	996			Fibronectin type-III 2.|Extracellular (Potential).		O60468	Silent	SNP	ENST00000400454.1	37	c.2988A>C	CCDS42929.1																																																																																				0.522	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		6	72	0	0	0	0.00308	0	6	72				
DSCAM	1826	broad.mit.edu	37	21	41684035	41684035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:41684035C>A	ENST00000400454.1	-	9	2512	c.2035G>T	c.(2035-2037)Gag>Tag	p.E679*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	679	Ig-like C2-type 7.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E679*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTTGGTGCTCCACAGCGGCG	0.478																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(2035-2037)GAG>TAG		Down syndrome cell adhesion molecule isoform							103.0	100.0	101.0					21																	41684035		1973	4167	6140	SO:0001587	stop_gained	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41684035C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2035G>T	21.37:g.41684035C>A	ENSP00000383303:p.Glu679*					DSCAM_uc002yyr.1_RNA	p.E679*	NM_001389	NP_001380	O60469	DSCAM_HUMAN			9	2487	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	679			Extracellular (Potential).|Ig-like C2-type 7.		O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.2035G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	38	6.809861	0.97853	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	5.38	4.49	0.54785	.	0.056484	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	13.9271	0.63968	0.0:0.9265:0.0:0.0735	.	.	.	.	X	679;431	.	ENSP00000383303:E679X	E	-	1	0	DSCAM	40605905	1.000000	0.71417	0.997000	0.53966	0.693000	0.40251	3.247000	0.51422	1.243000	0.43853	0.655000	0.94253	GAG		0.478	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		7	116	1	0	2.17888e-05	0.006214	2.74029e-05	7	116				
DSCAM	1826	broad.mit.edu	37	21	41725607	41725607	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:41725607T>A	ENST00000400454.1	-	5	1196	c.719A>T	c.(718-720)cAg>cTg	p.Q240L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	240	Ig-like C2-type 3.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q240L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCCACACGCTGCCCAGCCAT	0.547																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(718-720)CAG>CTG		Down syndrome cell adhesion molecule isoform							25.0	26.0	26.0					21																	41725607		1911	4133	6044	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41725607T>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.719A>T	21.37:g.41725607T>A	ENSP00000383303:p.Gln240Leu					DSCAM_uc002yyr.1_RNA	p.Q240L	NM_001389	NP_001380	O60469	DSCAM_HUMAN			5	1171	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	240			Extracellular (Potential).|Ig-like C2-type 3.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.719A>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.737154	0.69304	.	.	ENSG00000171587	ENST00000400454	T	0.29655	1.56	5.31	5.31	0.75309	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.058020	0.64402	D	0.000001	T	0.37404	0.1002	M	0.74546	2.27	0.51233	D	0.99991	B	0.25772	0.134	B	0.27380	0.079	T	0.17715	-1.0360	10	0.34782	T	0.22	.	15.5359	0.76001	0.0:0.0:0.0:1.0	.	240	O60469	DSCAM_HUMAN	L	240	ENSP00000383303:Q240L	ENSP00000383303:Q240L	Q	-	2	0	DSCAM	40647477	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.560000	0.82277	2.124000	0.65301	0.528000	0.53228	CAG		0.547	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		5	25	0	0	0	0.001168	0	5	25				
DSCAM	1826	broad.mit.edu	37	21	42064747	42064747	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:42064747G>A	ENST00000400454.1	-	3	974	c.497C>T	c.(496-498)tCa>tTa	p.S166L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	166	Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S166L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGAGACAAGTGAAACAGTGTC	0.502																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(496-498)TCA>TTA		Down syndrome cell adhesion molecule isoform							137.0	135.0	135.0					21																	42064747		2046	4189	6235	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:42064747G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.497C>T	21.37:g.42064747G>A	ENSP00000383303:p.Ser166Leu					DSCAM_uc002yyr.1_RNA	p.S166L	NM_001389	NP_001380	O60469	DSCAM_HUMAN			3	949	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	166			Ig-like C2-type 2.|Extracellular (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.497C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670158	0.67814	.	.	ENSG00000171587	ENST00000400454	T	0.11169	2.8	6.08	5.2	0.72013	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.085006	0.50627	D	0.000102	T	0.12518	0.0304	L	0.53249	1.67	0.44181	D	0.99699	B	0.27013	0.166	B	0.28232	0.087	T	0.05649	-1.0872	10	0.10902	T	0.67	.	15.5688	0.76317	0.0659:0.0:0.9341:0.0	.	166	O60469	DSCAM_HUMAN	L	166	ENSP00000383303:S166L	ENSP00000383303:S166L	S	-	2	0	DSCAM	40986617	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.915000	0.87484	1.585000	0.49928	0.655000	0.94253	TCA		0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		12	81	0	0	0	0.001855	0	12	81				
KRTAP10-5	386680	broad.mit.edu	37	21	46000336	46000336	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:46000336G>A	ENST00000400372.1	-	1	145	c.120C>T	c.(118-120)gtC>gtT	p.V40V	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	40	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.V40V(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CTGGGGTGCAGACCAGGGTCA	0.697																																							uc002zfl.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(118-120)GTC>GTT		keratin associated protein 10-5							40.0	46.0	44.0					21																	46000336		2199	4293	6492	SO:0001819	synonymous_variant	386680					keratin filament		g.chr21:46000336G>A	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.120C>T	21.37:g.46000336G>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.V40V	NM_198694	NP_941967	P60370	KR105_HUMAN			1	146	-			40			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	c.120C>T	CCDS42958.1																																																																																				0.697	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			10	61	0	0	0	0.000978	0	10	61				
COL6A2	1292	broad.mit.edu	37	21	47546018	47546018	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:47546018C>A	ENST00000300527.4	+	26	2393	c.2289C>A	c.(2287-2289)ttC>ttA	p.F763L	COL6A2_ENST00000409416.1_Missense_Mutation_p.F763L|COL6A2_ENST00000357838.4_Missense_Mutation_p.F763L|COL6A2_ENST00000397763.1_Missense_Mutation_p.F763L|COL6A2_ENST00000310645.5_Missense_Mutation_p.F763L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	763	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	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)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.F763L(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGACATGTTCCACGAGAAGC	0.622																																							uc002zia.1		NA																	3	Substitution - Missense(3)		lung(3)	central_nervous_system(7)|ovary(1)	8						c.(2287-2289)TTC>TTA		alpha 2 type VI collagen isoform 2C2 precursor							181.0	173.0	176.0					21																	47546018		2203	4300	6503	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47546018C>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2289C>A	21.37:g.47546018C>A	ENSP00000300527:p.Phe763Leu					COL6A2_uc002zhy.1_Missense_Mutation_p.F763L|COL6A2_uc002zhz.1_Missense_Mutation_p.F763L|COL6A2_uc002zib.1_Missense_Mutation_p.F169L|COL6A2_uc002zic.1_5'Flank	p.F763L	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2371	+	Breast(49;0.245)		763			VWFA 2.|Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2289C>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579571	0.28180	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	3.84	3.84	0.44239	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	L	0.49571	1.57	0.58432	D	0.999997	B;D;D	0.67145	0.139;0.996;0.996	B;D;D	0.77557	0.209;0.99;0.99	T	0.82030	-0.0659	10	0.56958	D	0.05	-13.284	8.3676	0.32395	0.0:0.8107:0.0:0.1893	.	763;763;763	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	L	763	ENSP00000300527:F763L;ENSP00000350497:F763L;ENSP00000312529:F763L;ENSP00000387115:F763L;ENSP00000380870:F763L	ENSP00000300527:F763L	F	+	3	2	COL6A2	46370446	0.999000	0.42202	1.000000	0.80357	0.944000	0.59088	1.537000	0.36083	1.693000	0.51124	0.491000	0.48974	TTC		0.622	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			33	178	1	0	9.65021e-13	0.002096	1.51287e-12	33	178				
BPIFC	254240	broad.mit.edu	37	22	32833771	32833771	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:32833771C>G	ENST00000397452.1	-	8	833	c.723G>C	c.(721-723)gaG>gaC	p.E241D	BPIFC_ENST00000300399.3_Missense_Mutation_p.E241D|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_Missense_Mutation_p.E55D			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	241						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.E241D(1)									CAAGGTAGTTCTCAGTAATTT	0.368																																							uc003amn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(721-723)GAG>GAC		bactericidal/permeability-increasing							111.0	101.0	105.0					22																	32833771		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32833771C>G	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.723G>C	22.37:g.32833771C>G	ENSP00000380594:p.Glu241Asp					BPIL2_uc010gwo.2_Missense_Mutation_p.E55D|BPIL2_uc011amb.1_5'UTR	p.E241D	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			7	723	-			241					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.723G>C	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365949	0.61513	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	T;T;T	0.04654	3.58;3.58;3.98	5.68	4.62	0.57501	.	0.478461	0.24236	N	0.040308	T	0.10035	0.0246	M	0.82630	2.6	0.80722	D	1	P;P	0.50443	0.935;0.919	P;B	0.45310	0.476;0.395	T	0.27739	-1.0065	10	0.16420	T	0.52	-19.3078	10.0086	0.41972	0.0:0.8999:0.0:0.1001	.	55;241	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	D	241;241;55	ENSP00000380594:E241D;ENSP00000300399:E241D;ENSP00000408920:E55D	ENSP00000300399:E241D	E	-	3	2	BPIFC	31163771	0.936000	0.31750	0.967000	0.41034	0.989000	0.77384	1.222000	0.32515	1.445000	0.47624	-0.345000	0.07892	GAG		0.368	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		5	48	0	0	0	0.000602	0	5	48				
HMGXB4	10042	broad.mit.edu	37	22	35661015	35661015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:35661015C>T	ENST00000216106.5	+	5	762	c.634C>T	c.(634-636)Caa>Taa	p.Q212*	HMGXB4_ENST00000444518.2_Nonsense_Mutation_p.Q103*	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	212					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)	p.Q212*(1)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAGTCTTTTCAATATCCCTC	0.453																																							uc003anl.2		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(1)|skin(1)	2						c.(634-636)CAA>TAA		high-mobility group protein 2-like 1							129.0	140.0	136.0					22																	35661015		2203	4300	6503	SO:0001587	stop_gained	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35661015C>T	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.634C>T	22.37:g.35661015C>T	ENSP00000216106:p.Gln212*					HMGXB4_uc011amh.1_Nonsense_Mutation_p.Q103*|HMGXB4_uc003ank.2_Nonsense_Mutation_p.Q103*	p.Q212*	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN			5	808	+			212					O75672|O75673|Q9UMT5	Nonsense_Mutation	SNP	ENST00000216106.5	37	c.634C>T	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	C	37	6.237143	0.97403	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	.	.	.	5.81	5.81	0.92471	.	0.290655	0.37955	N	0.001872	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.0789	11.9588	0.52997	0.0:0.9144:0.0:0.0856	.	.	.	.	X	103;103;103;212	.	ENSP00000216106:Q212X	Q	+	1	0	HMGXB4	33991015	0.984000	0.35163	1.000000	0.80357	0.417000	0.31264	3.184000	0.50926	2.755000	0.94549	0.650000	0.86243	CAA		0.453	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		18	236	0	0	0	0.007413	0	18	236				
XPNPEP3	63929	broad.mit.edu	37	22	41282319	41282319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:41282319G>T	ENST00000357137.4	+	4	676	c.592G>T	c.(592-594)Gag>Tag	p.E198*	XPNPEP3_ENST00000541156.1_Nonsense_Mutation_p.E198*|XPNPEP3_ENST00000414396.1_Nonsense_Mutation_p.E198*|XPNPEP3_ENST00000544094.1_Nonsense_Mutation_p.E175*	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	198					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)	p.E198*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ATTCTAAGCTGAGACGAACAT	0.408																																					Ovarian(145;306 1841 7037 21878 30110)	Ovarian(145;306 1841 7037 21878 30110)	uc003azh.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(592-594)GAG>TAG		X-prolyl aminopeptidase (aminopeptidase P) 3,							92.0	92.0	92.0					22																	41282319		2203	4300	6503	SO:0001587	stop_gained	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41282319G>T		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.592G>T	22.37:g.41282319G>T	ENSP00000349658:p.Glu198*					XPNPEP3_uc011aox.1_Nonsense_Mutation_p.E198*|XPNPEP3_uc003azi.2_Nonsense_Mutation_p.E119*|XPNPEP3_uc011aoy.1_RNA|XPNPEP3_uc010gyh.1_RNA	p.E198*	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN			4	684	+			198					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Nonsense_Mutation	SNP	ENST00000357137.4	37	c.592G>T	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760552	0.49468	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	.	.	.	5.86	4.84	0.62591	.	0.344166	0.34555	N	0.003875	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	16.4837	0.84171	0.0:0.0:0.8679:0.1321	.	.	.	.	X	198;198;198;175	.	ENSP00000349658:E198X	E	+	1	0	XPNPEP3	39612265	1.000000	0.71417	0.985000	0.45067	0.064000	0.16182	6.711000	0.74675	1.474000	0.48178	-0.175000	0.13238	GAG		0.408	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		10	93	1	0	2.27111e-07	0.001368	3.1406e-07	10	93				
POLR3H	171568	broad.mit.edu	37	22	41926752	41926752	+	Missense_Mutation	SNP	G	G	A	rs577195318	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:41926752G>A	ENST00000355209.4	-	5	843	c.500C>T	c.(499-501)tCa>tTa	p.S167L	POLR3H_ENST00000407461.1_Missense_Mutation_p.S167L|POLR3H_ENST00000337566.5_Missense_Mutation_p.S138L|POLR3H_ENST00000420561.1_5'Flank|POLR3H_ENST00000396504.2_Missense_Mutation_p.S167L	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	167					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.S167L(1)|p.S138L(1)		breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						GGCATCTGCTGAGCTGGGCCC	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		17576	0.0		0.0	False		,,,				2504	0.002						uc003baf.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(499-501)TCA>TTA		polymerase (RNA) III (DNA directed) polypeptide							94.0	81.0	85.0					22																	41926752		2203	4300	6503	SO:0001583	missense	171568				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr22:41926752G>A	AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.500C>T	22.37:g.41926752G>A	ENSP00000347345:p.Ser167Leu					POLR3H_uc003bae.2_RNA|POLR3H_uc003bag.2_Missense_Mutation_p.S167L|POLR3H_uc003bai.2_Missense_Mutation_p.S138L	p.S167L	NM_138338	NP_612211	Q9Y535	RPC8_HUMAN			6	560	-			167					B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Missense_Mutation	SNP	ENST00000355209.4	37	c.500C>T	CCDS14018.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083210	0.55861	.	.	ENSG00000100413	ENST00000396504;ENST00000355209;ENST00000337566;ENST00000407461	.	.	.	5.73	5.73	0.89815	Nucleic acid-binding, OB-fold-like (1);RNA polymerase III, subunit Rpc25 (1);	0.059791	0.64402	D	0.000002	T	0.48750	0.1517	N	0.13235	0.315	0.80722	D	1	B;B	0.16166	0.016;0.006	B;B	0.22152	0.038;0.026	T	0.36335	-0.9752	9	0.25106	T	0.35	.	18.8723	0.92320	0.0:0.0:1.0:0.0	.	138;167	Q9Y535-2;Q9Y535	.;RPC8_HUMAN	L	167;167;138;167	.	ENSP00000337627:S138L	S	-	2	0	POLR3H	40256698	1.000000	0.71417	0.960000	0.40013	0.342000	0.28953	7.741000	0.84997	2.713000	0.92767	0.655000	0.94253	TCA		0.617	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1	NM_138338		4	28	0	0	0	0.000602	0	4	28				
MLC1	23209	broad.mit.edu	37	22	50523201	50523201	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:50523201G>A	ENST00000311597.5	-	2	737	c.131C>T	c.(130-132)cCc>cTc	p.P44L	MLC1_ENST00000395876.2_Missense_Mutation_p.P44L|MLC1_ENST00000450140.2_Missense_Mutation_p.P44L|MLC1_ENST00000535444.1_Intron|MLC1_ENST00000431262.2_Missense_Mutation_p.P44L|MLC1_ENST00000538737.1_Missense_Mutation_p.P44L	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	44					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.P44L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GAAGCAGGGGGGCAGTCTCTT	0.652																																							uc003bjg.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(130-132)CCC>CTC		megalencephalic leukoencephalopathy with							62.0	59.0	60.0					22																	50523201		2203	4300	6503	SO:0001583	missense	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50523201G>A	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.131C>T	22.37:g.50523201G>A	ENSP00000310375:p.Pro44Leu					MLC1_uc011arl.1_Missense_Mutation_p.P44L|MLC1_uc003bjh.1_Missense_Mutation_p.P44L|MLC1_uc011arm.1_Missense_Mutation_p.P44L|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Missense_Mutation_p.P44L	p.P44L	NM_139202	NP_631941	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	2	404	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	44					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Missense_Mutation	SNP	ENST00000311597.5	37	c.131C>T	CCDS14083.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123057	0.56613	.	.	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000538737;ENST00000431262;ENST00000450140;ENST00000442311	D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.54	3.33	0.38152	.	0.221392	0.47093	D	0.000245	D	0.93719	0.7993	L	0.57536	1.79	0.80722	D	1	P;P;P;D	0.89917	0.763;0.763;0.763;1.0	B;B;B;D	0.91635	0.288;0.288;0.288;0.999	D	0.92862	0.6306	10	0.66056	D	0.02	-11.9501	7.6382	0.28277	0.0:0.117:0.4892:0.3939	.	44;44;44;44	F5H1B9;B7Z659;B7Z1X1;Q15049	.;.;.;MLC1_HUMAN	L	44	ENSP00000379216:P44L;ENSP00000310375:P44L;ENSP00000445805:P44L;ENSP00000415877:P44L;ENSP00000412448:P44L;ENSP00000401385:P44L	ENSP00000310375:P44L	P	-	2	0	MLC1	48865328	1.000000	0.71417	0.586000	0.28679	0.082000	0.17680	4.661000	0.61518	1.319000	0.45190	0.655000	0.94253	CCC		0.652	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		3	58	0	0	0	0.004672	0	3	58				
MOV10L1	54456	broad.mit.edu	37	22	50573048	50573048	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:50573048A>T	ENST00000262794.5	+	15	2142	c.2059A>T	c.(2059-2061)Acc>Tcc	p.T687S	MOV10L1_ENST00000540615.1_Missense_Mutation_p.T667S|MOV10L1_ENST00000545383.1_Missense_Mutation_p.T687S|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.T687S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	687					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.T687S(1)|p.T667S(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGGACAGTCCACCAGCAAAAA	0.478																																							uc003bjj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(2059-2061)ACC>TCC		MOV10-like 1 isoform 1							203.0	184.0	191.0					22																	50573048		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50573048A>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2059A>T	22.37:g.50573048A>T	ENSP00000262794:p.Thr687Ser					MOV10L1_uc003bjk.3_Missense_Mutation_p.T687S|MOV10L1_uc011arp.1_Missense_Mutation_p.T667S|MOV10L1_uc011arq.1_Missense_Mutation_p.T448S|MOV10L1_uc010hao.1_RNA	p.T687S	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	15	2142	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	687					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2059A>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720698	0.30503	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85013	-1.74;-1.74;-1.32;-1.93	5.39	-4.66	0.03329	.	1.162110	0.06054	N	0.657101	T	0.75369	0.3840	L	0.51422	1.61	0.09310	N	0.999998	B;B;B;B	0.22909	0.061;0.077;0.028;0.028	B;B;B;B	0.17098	0.017;0.012;0.005;0.005	T	0.56511	-0.7967	10	0.13470	T	0.59	-10.0718	5.7323	0.18047	0.3518:0.0:0.4176:0.2306	.	448;667;687;687	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	S	687;687;687;667	ENSP00000438978:T687S;ENSP00000262794:T687S;ENSP00000379199:T687S;ENSP00000438542:T667S	ENSP00000262794:T687S	T	+	1	0	MOV10L1	48915175	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.053000	0.03500	-0.498000	0.06632	0.533000	0.62120	ACC		0.478	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		11	129	0	0	0	0.001368	0	11	129				
PLXNB2	23654	broad.mit.edu	37	22	50724456	50724456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:50724456G>T	ENST00000449103.1	-	10	2089	c.1949C>A	c.(1948-1950)tCg>tAg	p.S650*	PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.S650*|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	650					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.S693*(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGTTGGGCGAAGCCTCCCG	0.682																																							uc003bkv.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1948-1950)TCG>TAG		plexin B2 precursor							37.0	43.0	41.0					22																	50724456		2117	4203	6320	SO:0001587	stop_gained	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50724456G>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1949C>A	22.37:g.50724456G>T	ENSP00000409171:p.Ser650*						p.S650*	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	10	2055	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	650			Extracellular (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Nonsense_Mutation	SNP	ENST00000449103.1	37	c.1949C>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	38	6.752780	0.97813	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	.	.	.	4.37	4.37	0.52481	.	0.571137	0.13326	N	0.396281	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7544	0.69552	0.0:0.0:1.0:0.0	.	.	.	.	X	650	.	ENSP00000352288:S650X	S	-	2	0	PLXNB2	49066583	0.981000	0.34729	0.995000	0.50966	0.293000	0.27360	3.504000	0.53347	2.150000	0.67090	0.561000	0.74099	TCG		0.682	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		4	24	1	0	4.096e-09	0.001168	5.95602e-09	4	24				
ARSA	410	broad.mit.edu	37	22	51065369	51065369	+	Missense_Mutation	SNP	G	G	C	rs199476374		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr22:51065369G>C	ENST00000547307.1	-	3	976	c.571C>G	c.(571-573)Ccc>Gcc	p.P191A	ARSA_ENST00000453344.2_Missense_Mutation_p.P107A|ARSA_ENST00000547805.1_Missense_Mutation_p.P191A|ARSA_ENST00000395621.3_Missense_Mutation_p.P193A|ARSA_ENST00000395619.3_Missense_Mutation_p.P193A|ARSA_ENST00000356098.5_Missense_Mutation_p.P193A|ARSA_ENST00000216124.5_Missense_Mutation_p.P193A			P15289	ARSA_HUMAN	arylsulfatase A	191			P -> T (in MLD; juvenile-onset; dbSNP:rs199476374). {ECO:0000269|PubMed:10381328}.		autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)	p.P191A(1)		endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	AGCCAGGGGGGCTGCGCCTCC	0.672																																							uc003bnb.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2	GRCh37	CM990178	ARSA	M		c.(571-573)CCC>GCC		arylsulfatase A isoform a precursor	Micafungin(DB01141)						43.0	53.0	50.0					22																	51065369		2200	4296	6496	SO:0001583	missense	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51065369G>C	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.571C>G	22.37:g.51065369G>C	ENSP00000448440:p.Pro191Ala					ARSA_uc003bna.3_Missense_Mutation_p.P107A|ARSA_uc003bnc.3_Missense_Mutation_p.P191A|ARSA_uc003bnd.3_Missense_Mutation_p.P191A|ARSA_uc003bmz.3_Missense_Mutation_p.P191A|ARSA_uc010hbf.2_3'UTR	p.P191A	NM_001085426	NP_001078895	P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	824	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	191		P -> T (in MLD; juvenile-onset).			B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37	c.571C>G		.	.	.	.	.	.	.	.	.	.	G	20.5	4.001025	0.74818	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17;-5.17;-5.17;-5.17	5.51	5.51	0.81932	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.097898	0.64402	D	0.000001	D	0.98950	0.9643	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99851	1.1072	10	0.72032	D	0.01	.	16.9057	0.86127	0.0:0.0:1.0:0.0	.	191	P15289	ARSA_HUMAN	A	193;193;191;191;193;107;193	ENSP00000348406:P193A;ENSP00000216124:P193A;ENSP00000448440:P191A;ENSP00000448932:P191A;ENSP00000378983:P193A;ENSP00000412542:P107A;ENSP00000378981:P193A	ENSP00000216124:P193A	P	-	1	0	ARSA	49412235	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	5.899000	0.69846	2.602000	0.87976	0.603000	0.83216	CCC		0.672	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		4	72	0	0	0	0.009096	0	4	72				
CNTN6	27255	broad.mit.edu	37	3	1262497	1262497	+	Splice_Site	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:1262497G>A	ENST00000446702.2	+	3	809	c.182G>A	c.(181-183)aGg>aAg	p.R61K	CNTN6_ENST00000350110.2_Splice_Site_p.R61K|CNTN6_ENST00000539053.1_De_novo_Start_OutOfFrame			Q9UQ52	CNTN6_HUMAN	contactin 6	61	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R61K(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCTCATTATAGGTAAAATCCT	0.368																																							uc003boz.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(181-183)AGG>AAG		contactin 6 precursor							130.0	124.0	126.0					3																	1262497		2203	4300	6503	SO:0001630	splice_region_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1262497G>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.182+1G>A	3.37:g.1262497G>A						CNTN6_uc010hbo.2_Missense_Mutation_p.R56K|CNTN6_uc011asj.1_5'UTR|CNTN6_uc003bpa.2_Missense_Mutation_p.R61K	p.R61K	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	3	449	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	61			Ig-like C2-type 1.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.182G>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360988	0.82353	.	.	ENSG00000134115	ENST00000446702;ENST00000350110	T;T	0.65916	-0.18;-0.18	5.81	5.81	0.92471	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.72309	0.3444	L	0.37850	1.14	0.80722	D	1	D	0.67145	0.996	D	0.77004	0.989	T	0.66622	-0.5877	10	0.27785	T	0.31	.	20.0784	0.97758	0.0:0.0:1.0:0.0	.	61	Q9UQ52	CNTN6_HUMAN	K	61	ENSP00000407822:R61K;ENSP00000341882:R61K	ENSP00000341882:R61K	R	+	2	0	CNTN6	1237497	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.776000	0.85560	2.736000	0.93811	0.655000	0.94253	AGG		0.368	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	Missense_Mutation	17	100	0	0	0	0.010504	0	17	100				
GRM7	2917	broad.mit.edu	37	3	7340467	7340467	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:7340467C>G	ENST00000357716.4	+	3	1107	c.833C>G	c.(832-834)cCc>cGc	p.P278R	GRM7_ENST00000402647.2_Missense_Mutation_p.P278R|GRM7_ENST00000389336.4_Missense_Mutation_p.P278R|GRM7_ENST00000486284.1_Missense_Mutation_p.P278R|GRM7_ENST00000403881.1_Missense_Mutation_p.P278R	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	278					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.P278R(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CTGGACACCCCCAACTCCAGG	0.453																																							uc003bqm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)	7						c.(832-834)CCC>CGC		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						72.0	73.0	73.0					3																	7340467		2203	4299	6502	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7340467C>G	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.833C>G	3.37:g.7340467C>G	ENSP00000350348:p.Pro278Arg					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.P278R|GRM7_uc003bql.2_Missense_Mutation_p.P278R|GRM7_uc003bqn.1_5'UTR	p.P278R	NM_000844	NP_000835	Q14831	GRM7_HUMAN			3	1107	+			278			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.833C>G	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401446	0.42613	.	.	ENSG00000196277	ENST00000448328;ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.195064	0.46145	D	0.000302	D	0.83459	0.5259	M	0.72624	2.21	0.37133	D	0.901373	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.15052	0.001;0.001;0.012	T	0.82985	-0.0185	10	0.72032	D	0.01	.	17.9564	0.89070	0.0:1.0:0.0:0.0	.	278;278;278	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	R	70;278;278;278;278;278;278;278	ENSP00000393799:P70R;ENSP00000350348:P278R;ENSP00000417536:P278R;ENSP00000373987:P278R;ENSP00000385664:P278R;ENSP00000384585:P278R	ENSP00000350348:P278R	P	+	2	0	GRM7	7315467	0.920000	0.31207	1.000000	0.80357	0.999000	0.98932	1.408000	0.34668	2.648000	0.89879	0.650000	0.86243	CCC		0.453	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		6	45	0	0	0	0.001168	0	6	45				
FANCD2	2177	broad.mit.edu	37	3	10105580	10105580	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:10105580G>T	ENST00000419585.1	+	21	2093	c.1932G>T	c.(1930-1932)ctG>ctT	p.L644L	FANCD2_ENST00000383806.1_Silent_p.L644L|FANCD2_ENST00000383807.1_Silent_p.L644L|FANCD2_ENST00000287647.3_Silent_p.L644L			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	644					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.L644L(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATGAAAAGCTGGATCCAAAAG	0.433			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc003buw.2		NA	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			3	Substitution - coding silent(3)		lung(2)|NS(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1930-1932)CTG>CTT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							71.0	70.0	71.0					3																	10105580		2203	4300	6503	SO:0001819	synonymous_variant	2177	FanconAnemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10105580G>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1932G>T	3.37:g.10105580G>T						FANCD2_uc003bux.1_Silent_p.L644L|FANCD2_uc003buy.1_Silent_p.L644L|FANCD2_uc010hcw.1_RNA	p.L644L	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	21	2010	+			644					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.1932G>T	CCDS33696.1																																																																																				0.433	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			5	108	1	0	1.26484e-09	0.00308	1.86932e-09	5	108				
ATP2B2	491	broad.mit.edu	37	3	10370725	10370725	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:10370725C>T	ENST00000352432.4	-	22	3574	c.3505G>A	c.(3505-3507)Gct>Act	p.A1169T	ATP2B2_ENST00000360273.2_Missense_Mutation_p.A1169T|ATP2B2_ENST00000467702.2_5'UTR|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A1155T|ATP2B2_ENST00000397077.1_Missense_Mutation_p.A1124T|MIR378B_ENST00000578876.1_RNA|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A1124T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1169					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.A1124T(1)|p.A1169T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCAGGATGAGCCATGAAGTTA	0.532																																					Ovarian(125;1619 1709 15675 19819 38835)	Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3505-3507)GCT>ACT		plasma membrane calcium ATPase 2 isoform 1							92.0	86.0	88.0					3																	10370725		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10370725C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3505G>A	3.37:g.10370725C>T	ENSP00000324172:p.Ala1169Thr					ATP2B2_uc003bvv.2_Missense_Mutation_p.A1124T|ATP2B2_uc003bvw.2_Missense_Mutation_p.A1124T|ATP2B2_uc003bvs.2_RNA|ATP2B2_uc010hdo.2_Missense_Mutation_p.A874T|hsa-mir-378b|MI0014154_5'Flank	p.A1169T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			23	3944	-			1169			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.3505G>A	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	2.850	-0.238559	0.05944	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124	T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.55	3.51	0.40186	.	0.109676	0.39274	N	0.001412	T	0.38825	0.1055	N	0.01729	-0.75	0.32886	D	0.511224	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.002;0.003	T	0.39683	-0.9602	10	0.07175	T	0.84	-6.7693	4.2423	0.10654	0.0:0.5336:0.0:0.4664	.	1104;1136;1169	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	T	1169;1124;1124;1169;1155;1104;358;1025	ENSP00000324172:A1169T;ENSP00000373311:A1124T;ENSP00000380267:A1124T;ENSP00000353414:A1169T;ENSP00000344677:A1155T;ENSP00000414854:A1025T	ENSP00000344677:A1155T	A	-	1	0	ATP2B2	10345725	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.255000	0.51484	1.334000	0.45468	0.650000	0.86243	GCT		0.532	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		11	66	0	0	0	0.008291	0	11	66				
ATP2B2	491	broad.mit.edu	37	3	10430011	10430011	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:10430011A>T	ENST00000352432.4	-	5	926	c.857T>A	c.(856-858)tTt>tAt	p.F286Y	ATP2B2_ENST00000360273.2_Missense_Mutation_p.F286Y|ATP2B2_ENST00000343816.4_Missense_Mutation_p.F286Y|ATP2B2_ENST00000397077.1_Missense_Mutation_p.F286Y|ATP2B2_ENST00000383800.4_Missense_Mutation_p.F286Y			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	286					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.F286Y(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGGAGGGTAAAGATGATGCC	0.527																																					Ovarian(125;1619 1709 15675 19819 38835)	Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(856-858)TTT>TAT		plasma membrane calcium ATPase 2 isoform 1							258.0	232.0	241.0					3																	10430011		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10430011A>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.857T>A	3.37:g.10430011A>T	ENSP00000324172:p.Phe286Tyr					ATP2B2_uc003bvv.2_Missense_Mutation_p.F286Y|ATP2B2_uc003bvw.2_Missense_Mutation_p.F286Y|ATP2B2_uc010hdp.2_Missense_Mutation_p.F286Y|ATP2B2_uc010hdo.2_Missense_Mutation_p.F22Y	p.F286Y	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			6	1296	-			286			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.857T>A	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300475	0.81136	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69;-2.69	5.65	5.65	0.86999	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.096519	0.64402	D	0.000001	D	0.90473	0.7016	M	0.63208	1.945	0.80722	D	1	B;B;B;B	0.19073	0.008;0.001;0.006;0.033	B;B;B;B	0.31751	0.01;0.002;0.033;0.135	D	0.87431	0.2388	10	0.42905	T	0.14	-14.4396	15.8725	0.79132	1.0:0.0:0.0:0.0	.	286;252;298;286	Q01814-7;F5H7F7;Q4LE63;Q01814	.;.;.;AT2B2_HUMAN	Y	286;286;286;286;286;252;173;286	ENSP00000324172:F286Y;ENSP00000373311:F286Y;ENSP00000380267:F286Y;ENSP00000353414:F286Y;ENSP00000344677:F286Y;ENSP00000414854:F173Y	ENSP00000342954:F286Y	F	-	2	0	ATP2B2	10405011	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.292000	0.96076	2.163000	0.67991	0.533000	0.62120	TTT		0.527	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		37	201	0	0	0	0.00623	0	37	201				
SLC6A11	6538	broad.mit.edu	37	3	10885924	10885924	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:10885924G>A	ENST00000254488.2	+	5	715	c.649G>A	c.(649-651)Ggg>Agg	p.G217R		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	217					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.G217R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	CATCTCTGACGGGATCGAGCA	0.592																																							uc003bvz.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(649-651)GGG>AGG		solute carrier family 6 (neurotransmitter							111.0	95.0	100.0					3																	10885924		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10885924G>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.649G>A	3.37:g.10885924G>A	ENSP00000254488:p.Gly217Arg						p.G217R	NM_014229	NP_055044	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	5	683	+			217			Extracellular (Potential).		B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.649G>A	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	G	33	5.291163	0.95546	.	.	ENSG00000132164	ENST00000254488	T	0.76578	-1.03	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.91576	0.7339	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93140	0.6540	10	0.87932	D	0	.	19.5127	0.95148	0.0:0.0:1.0:0.0	.	217	P48066	S6A11_HUMAN	R	217	ENSP00000254488:G217R	ENSP00000254488:G217R	G	+	1	0	SLC6A11	10860924	1.000000	0.71417	0.979000	0.43373	0.963000	0.63663	9.441000	0.97557	2.693000	0.91896	0.650000	0.86243	GGG		0.592	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		9	54	0	0	0	0.008291	0	9	54				
CAND2	23066	broad.mit.edu	37	3	12858893	12858893	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:12858893G>A	ENST00000456430.2	+	10	2503	c.2462G>A	c.(2461-2463)aGc>aAc	p.S821N	CAND2_ENST00000295989.5_Missense_Mutation_p.S728N	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	821					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.S821N(1)|p.S728N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAGGCGGCAAGCACAGCCAGT	0.657																																					GBM(43;676 868 1633 6395 37496)	GBM(43;676 868 1633 6395 37496)	uc003bxk.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|pancreas(1)	4						c.(2461-2463)AGC>AAC		TBP-interacting protein isoform 1							43.0	50.0	47.0					3																	12858893		2054	4201	6255	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858893G>A		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2462G>A	3.37:g.12858893G>A	ENSP00000387641:p.Ser821Asn					CAND2_uc003bxj.2_Missense_Mutation_p.S728N	p.S821N	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			10	2511	+			821					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.2462G>A	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	5.852	0.341409	0.11069	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.14266	2.52;2.52	4.83	3.92	0.45320	Armadillo-like helical (1);Armadillo-type fold (1);	0.269103	0.34531	N	0.003888	T	0.08403	0.0209	N	0.14661	0.345	0.46396	D	0.999025	B;B	0.16802	0.001;0.019	B;B	0.23419	0.004;0.046	T	0.22977	-1.0201	10	0.17832	T	0.49	-15.3368	11.667	0.51379	0.0:0.346:0.654:0.0	.	821;728	O75155;O75155-2	CAND2_HUMAN;.	N	728;821	ENSP00000295989:S728N;ENSP00000387641:S821N	ENSP00000295989:S728N	S	+	2	0	CAND2	12833893	0.977000	0.34250	0.472000	0.27241	0.653000	0.38743	1.914000	0.39966	1.082000	0.41137	0.561000	0.74099	AGC		0.657	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		5	60	0	0	0	0.000602	0	5	60				
FGD5	152273	broad.mit.edu	37	3	14862391	14862391	+	Missense_Mutation	SNP	G	G	T	rs372798998		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:14862391G>T	ENST00000285046.5	+	1	1923	c.1813G>T	c.(1813-1815)Ggc>Tgc	p.G605C	FGD5_ENST00000543601.1_Missense_Mutation_p.G364C	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	605					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.G605C(1)|p.G364C(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCCGTCCAGCGGCACCTCCAC	0.542																																							uc003bzc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|pancreas(1)	5						c.(1813-1815)GGC>TGC		FYVE, RhoGEF and PH domain containing 5							56.0	57.0	57.0					3																	14862391		1956	4138	6094	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862391G>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1813G>T	3.37:g.14862391G>T	ENSP00000285046:p.Gly605Cys					FGD5_uc011avk.1_Missense_Mutation_p.G605C	p.G605C	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	1923	+			605					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1813G>T	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626941	0.46840	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	D;D	0.82803	-1.65;-1.53	5.21	4.32	0.51571	.	0.217513	0.32416	N	0.006128	D	0.88800	0.6535	M	0.64997	1.995	0.46279	D	0.998964	D;D	0.89917	1.0;1.0	D;D	0.76071	0.982;0.987	D	0.89646	0.3866	10	0.87932	D	0	-40.9065	13.1668	0.59575	0.0766:0.0:0.9234:0.0	.	364;605	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	C	605;364	ENSP00000285046:G605C;ENSP00000445949:G364C	ENSP00000285046:G605C	G	+	1	0	FGD5	14837395	1.000000	0.71417	0.995000	0.50966	0.056000	0.15407	6.219000	0.72231	2.426000	0.82243	0.655000	0.94253	GGC		0.542	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		9	55	1	0	3.86212e-05	0.008291	4.77085e-05	9	55				
OXSM	54995	broad.mit.edu	37	3	25835776	25835776	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:25835776G>T	ENST00000280701.3	+	3	1270	c.1171G>T	c.(1171-1173)Ggg>Tgg	p.G391W	OXSM_ENST00000420173.2_Missense_Mutation_p.G308W	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	391					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.G391W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGGAGCTGCAGGGGCAGTCGA	0.433																																							uc003cdn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1171-1173)GGG>TGG		3-oxoacyl-ACP synthase, mitochondrial isoform 1							95.0	94.0	94.0					3																	25835776		2203	4300	6503	SO:0001583	missense	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25835776G>T	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.1171G>T	3.37:g.25835776G>T	ENSP00000280701:p.Gly391Trp					OXSM_uc011awp.1_Missense_Mutation_p.G116W|OXSM_uc010hfh.2_Missense_Mutation_p.G308W	p.G391W	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN			3	1278	+			391						Missense_Mutation	SNP	ENST00000280701.3	37	c.1171G>T	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450152	0.84101	.	.	ENSG00000151093	ENST00000280701;ENST00000420173	.	.	.	5.52	5.52	0.82312	Beta-ketoacyl synthase, C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.94149	0.8123	H	0.99973	5.135	0.52501	D	0.999955	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97277	0.9915	9	0.87932	D	0	-11.1685	19.4602	0.94914	0.0:0.0:1.0:0.0	.	308;391	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	W	391;308	.	ENSP00000280701:G391W	G	+	1	0	OXSM	25810780	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	9.803000	0.99136	2.590000	0.87494	0.655000	0.94253	GGG		0.433	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		12	81	1	0	3.07112e-06	0.000978	4.06035e-06	12	81				
EPM2AIP1	9852	broad.mit.edu	37	3	37034182	37034182	+	Silent	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:37034182C>G	ENST00000322716.5	-	1	613	c.387G>C	c.(385-387)ctG>ctC	p.L129L	MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000458205.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	129					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)		p.L129L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GTACCTCTCTCAGCAACACCT	0.577																																							uc003cgk.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(385-387)CTG>CTC		EPM2A interacting protein 1							151.0	157.0	155.0					3																	37034182		2078	4213	6291	SO:0001819	synonymous_variant	9852					endoplasmic reticulum		g.chr3:37034182C>G	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.387G>C	3.37:g.37034182C>G						MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	p.L129L	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN			1	614	-			129					O94866|Q9H3L3	Silent	SNP	ENST00000322716.5	37	c.387G>C	CCDS46790.1																																																																																				0.577	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		10	117	0	0	0	0.001368	0	10	117				
SCN5A	6331	broad.mit.edu	37	3	38592196	38592196	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:38592196G>A	ENST00000333535.4	-	28	5816	c.5667C>T	c.(5665-5667)taC>taT	p.Y1889Y	SCN5A_ENST00000449557.2_Silent_p.Y1835Y|SCN5A_ENST00000443581.1_Silent_p.Y1888Y|SCN5A_ENST00000425664.1_Silent_p.Y1871Y|SCN5A_ENST00000450102.2_Silent_p.Y1835Y|SCN5A_ENST00000451551.2_Silent_p.Y1835Y|SCN5A_ENST00000413689.1_Silent_p.Y1889Y|SCN5A_ENST00000423572.2_Silent_p.Y1888Y|SCN5A_ENST00000455624.2_Silent_p.Y1856Y|SCN5A_ENST00000414099.2_Silent_p.Y1871Y|SCN5A_ENST00000464652.1_5'Flank			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1889	Interaction with FGF13.				AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.Y1889Y(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGATGGGCTCGTAGGAGATCT	0.587																																							uc003cio.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(5665-5667)TAC>TAT		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						191.0	210.0	203.0					3																	38592196		2124	4215	6339	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592196G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5667C>T	3.37:g.38592196G>A						SCN5A_uc003cin.2_Silent_p.Y1888Y|SCN5A_uc003cil.3_Silent_p.Y1889Y|SCN5A_uc010hhi.2_Silent_p.Y1871Y|SCN5A_uc010hhk.2_Silent_p.Y1856Y|SCN5A_uc011ayr.1_Silent_p.Y1835Y	p.Y1889Y	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5861	-	Medulloblastoma(35;0.163)		1889					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.5667C>T	CCDS46796.1																																																																																				0.587	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		19	129	0	0	0	0.00333	0	19	129				
ZNF197	10168	broad.mit.edu	37	3	44671009	44671009	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:44671009G>C	ENST00000396058.1	+	1	530	c.363G>C	c.(361-363)caG>caC	p.Q121H	ZNF197_ENST00000344387.4_Missense_Mutation_p.Q121H|ZNF197_ENST00000383745.2_Missense_Mutation_p.Q121H|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Missense_Mutation_p.Q121H			O14709	ZN197_HUMAN	zinc finger protein 197	121	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q121H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGGAGCTGCAGAAAGACCTTG	0.562																																							uc003cnm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(361-363)CAG>CAC		zinc finger protein 197 isoform 1							41.0	41.0	41.0					3																	44671009		2203	4300	6503	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44671009G>C	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.363G>C	3.37:g.44671009G>C	ENSP00000379370:p.Gln121His					ZNF197_uc003cnn.2_Missense_Mutation_p.Q121H|ZNF197_uc003cno.2_RNA|ZNF197_uc003cnp.2_Missense_Mutation_p.Q121H	p.Q121H	NM_006991	NP_008922	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	2	569	+			121			SCAN box.		B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.363G>C	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626434	0.66901	.	.	ENSG00000186448	ENST00000383744;ENST00000536299;ENST00000344387;ENST00000383745;ENST00000396058	T;T;T;T	0.04603	3.59;3.59;3.59;3.59	5.09	4.21	0.49690	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.35320	N	0.003295	T	0.14485	0.0350	L	0.53780	1.695	0.26464	N	0.975396	D;D	0.76494	0.999;0.996	D;D	0.91635	0.999;0.994	T	0.01940	-1.1243	10	0.49607	T	0.09	.	9.3801	0.38309	0.0964:0.0:0.9036:0.0	.	121;121	Q86VG0;O14709	.;ZN197_HUMAN	H	121	ENSP00000373250:Q121H;ENSP00000345809:Q121H;ENSP00000373251:Q121H;ENSP00000379370:Q121H	ENSP00000334616:Q121H	Q	+	3	2	ZNF197	44646013	0.967000	0.33354	0.984000	0.44739	0.996000	0.88848	0.914000	0.28624	1.490000	0.48466	0.655000	0.94253	CAG		0.562	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		3	26	0	0	0	0.009096	0	3	26				
NBEAL2	23218	broad.mit.edu	37	3	47044463	47044463	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:47044463C>T	ENST00000450053.3	+	34	5655	c.5476C>T	c.(5476-5478)Cgc>Tgc	p.R1826C	NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1642C|NBEAL2_ENST00000383740.2_Missense_Mutation_p.R105C	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1826					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.R1203C(1)|p.R1826C(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCCCATCCCCCGCTGGAAACT	0.612																																							uc003cqp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(5476-5478)CGC>TGC		neurobeachin-like 2							52.0	56.0	55.0					3																	47044463		2024	4170	6194	SO:0001583	missense	23218						binding	g.chr3:47044463C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5476C>T	3.37:g.47044463C>T	ENSP00000415034:p.Arg1826Cys					NBEAL2_uc010hjm.1_Missense_Mutation_p.R1203C|NBEAL2_uc010hjn.1_Missense_Mutation_p.R222C|NBEAL2_uc010hjo.1_5'Flank	p.R1826C	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	34	5655	+		Acute lymphoblastic leukemia(5;0.0534)	1826					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.5476C>T	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.79|12.79	2.044000|2.044000	0.36085|0.36085	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000443829|ENST00000292309;ENST00000383740;ENST00000450053	T|T;T;T	0.38560|0.57273	1.13|0.42;1.01;0.41	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.530450	.|0.19299	.|N	.|0.117681	T|T	0.48429|0.48429	0.1499|0.1499	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	0.999997|0.999997	.|D;P	.|0.54772	.|0.968;0.84	.|P;B	.|0.47015	.|0.534;0.39	T|T	0.48547|0.48547	-0.9026|-0.9026	7|10	0.25751|0.66056	T|D	0.34|0.02	.|.	12.198|12.198	0.54309|0.54309	0.1706:0.8294:0.0:0.0|0.1706:0.8294:0.0:0.0	.|.	.|1642;1826	.|Q6ZNJ1-2;Q6ZNJ1	.|.;NBEL2_HUMAN	L|C	194|1642;105;1826	ENSP00000414560:P194L|ENSP00000292309:R1642C;ENSP00000373246:R105C;ENSP00000415034:R1826C	ENSP00000414560:P194L|ENSP00000292309:R1642C	P|R	+|+	2|1	0|0	NBEAL2|NBEAL2	47019467|47019467	0.437000|0.437000	0.25593|0.25593	0.179000|0.179000	0.23059|0.23059	0.066000|0.066000	0.16364|0.16364	3.552000|3.552000	0.53705|0.53705	2.610000|2.610000	0.88304|0.88304	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.612	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		4	18	0	0	0	0.000602	0	4	18				
SETD2	29072	broad.mit.edu	37	3	47161676	47161676	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:47161676C>A	ENST00000409792.3	-	3	4492	c.4450G>T	c.(4450-4452)Gaa>Taa	p.E1484*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1484					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.E981*(1)|p.E1484*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACTTACCTTTCTGTTAAATAA	0.328			"""N, F, S, Mis"""		clear cell renal carcinoma																																		uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Nonsense(2)		lung(2)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(4450-4452)GAA>TAA		SET domain containing 2							56.0	57.0	56.0					3																	47161676		2203	4298	6501	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47161676C>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4450G>T	3.37:g.47161676C>A	ENSP00000386759:p.Glu1484*					SETD2_uc003cqv.2_Nonsense_Mutation_p.E1473*	p.E1484*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	4503	-		Acute lymphoblastic leukemia(5;0.0169)	1484					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.4450G>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	43	10.365541	0.99392	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	18.871	0.92315	0.0:1.0:0.0:0.0	.	.	.	.	X	1484	.	ENSP00000386759:E1484X	E	-	1	0	SETD2	47136680	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.651000	0.83577	2.690000	0.91761	0.563000	0.77884	GAA		0.328	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		15	75	1	0	3.41278e-10	0.00499	5.11068e-10	15	75				
PFKFB4	5210	broad.mit.edu	37	3	48575973	48575973	+	Missense_Mutation	SNP	C	C	A	rs376216416		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:48575973C>A	ENST00000232375.3	-	7	702	c.590G>T	c.(589-591)tGc>tTc	p.C197F	PFKFB4_ENST00000383734.2_Missense_Mutation_p.C197F|PFKFB4_ENST00000416568.1_Missense_Mutation_p.C197F|PFKFB4_ENST00000541519.1_Missense_Mutation_p.C163F|PFKFB4_ENST00000536104.1_Missense_Mutation_p.C186F|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	197	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)	p.C197F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTTCTCATAGCACTCAATGCG	0.592																																							uc003ctv.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(589-591)TGC>TTC		6-phosphofructo-2-kinase/fructose-2,							84.0	73.0	77.0					3																	48575973		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48575973C>A	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.590G>T	3.37:g.48575973C>A	ENSP00000232375:p.Cys197Phe					PFKFB4_uc003ctw.2_Missense_Mutation_p.C6F|PFKFB4_uc010hkc.2_Missense_Mutation_p.C197F|PFKFB4_uc003ctx.2_Missense_Mutation_p.C154F|PFKFB4_uc010hkb.2_Missense_Mutation_p.C197F|PFKFB4_uc011bbm.1_Missense_Mutation_p.C186F|PFKFB4_uc011bbn.1_RNA	p.C197F	NM_004567	NP_004558	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	7	607	-			197			6-phosphofructo-2-kinase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.590G>T	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568000	0.28003	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519;ENST00000452531;ENST00000412035	.	.	.	4.4	4.4	0.53042	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.78349	0.4269	M	0.79926	2.475	0.80722	D	1	B;D;D;P	0.76494	0.404;0.977;0.999;0.491	B;P;D;B	0.68039	0.411;0.87;0.955;0.241	T	0.82212	-0.0569	9	0.87932	D	0	-23.8328	14.5184	0.67835	0.0:1.0:0.0:0.0	.	186;197;197;197	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	F	197;186;197;197;163;186;163	.	ENSP00000232375:C197F	C	-	2	0	PFKFB4	48550977	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	7.624000	0.83124	2.269000	0.75478	0.591000	0.81541	TGC		0.592	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		8	40	1	0	0.00307968	0.00308	0.00339969	8	40				
BSN	8927	broad.mit.edu	37	3	49698291	49698291	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:49698291C>G	ENST00000296452.4	+	6	9127	c.9013C>G	c.(9013-9015)Ctt>Gtt	p.L3005V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3005					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.L3005V(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTTGCGTGGTCTTGGCGAGCA	0.592																																							uc003cxe.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(9013-9015)CTT>GTT		bassoon protein							62.0	63.0	62.0					3																	49698291		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49698291C>G	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.9013C>G	3.37:g.49698291C>G	ENSP00000296452:p.Leu3005Val						p.L3005V	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	9127	+			3005					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.9013C>G	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364763	0.24684	.	.	ENSG00000164061	ENST00000296452	T	0.15952	2.38	4.61	4.61	0.57282	.	0.146820	0.44688	D	0.000430	T	0.08670	0.0215	N	0.11560	0.145	0.36790	D	0.884808	B	0.29862	0.259	B	0.29524	0.103	T	0.33777	-0.9855	10	0.17832	T	0.49	-13.2237	10.7206	0.46038	0.0:0.9103:0.0:0.0897	.	3005	Q9UPA5	BSN_HUMAN	V	3005	ENSP00000296452:L3005V	ENSP00000296452:L3005V	L	+	1	0	BSN	49673295	0.996000	0.38824	0.999000	0.59377	0.979000	0.70002	1.523000	0.35932	2.120000	0.65058	0.561000	0.74099	CTT		0.592	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		6	20	0	0	0	0.001984	0	6	20				
RNF123	63891	broad.mit.edu	37	3	49735535	49735535	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:49735535G>T	ENST00000327697.6	+	7	592	c.448G>T	c.(448-450)Ggc>Tgc	p.G150C	RNF123_ENST00000432042.1_Missense_Mutation_p.G4C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	150	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G150C(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CATGCAGATCGGCTGGTGCAC	0.617																																							uc003cxh.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7						c.(448-450)GGC>TGC		ring finger protein 123							70.0	72.0	71.0					3																	49735535		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49735535G>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.448G>T	3.37:g.49735535G>T	ENSP00000328287:p.Gly150Cys					RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.2_5'Flank	p.G150C	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	7	534	+			150			B30.2/SPRY.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.448G>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122770	0.94429	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	D;D	0.99201	-5.55;-5.55	5.85	5.85	0.93711	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.207971	0.42821	D	0.000656	D	0.99664	0.9875	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97501	1.0060	10	0.87932	D	0	-35.2186	19.1459	0.93467	0.0:0.0:1.0:0.0	.	150	Q5XPI4	RN123_HUMAN	C	150;150;4	ENSP00000328287:G150C;ENSP00000392443:G4C	ENSP00000328287:G150C	G	+	1	0	RNF123	49710539	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.024000	0.93689	2.767000	0.95098	0.655000	0.94253	GGC		0.617	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		14	71	1	0	1.5842e-08	0.001855	2.24927e-08	14	71				
CADPS	8618	broad.mit.edu	37	3	62751604	62751604	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:62751604C>A	ENST00000383710.4	-	2	846	c.497G>T	c.(496-498)gGg>gTg	p.G166V	CADPS_ENST00000357948.3_Missense_Mutation_p.G166V|CADPS_ENST00000490353.2_Missense_Mutation_p.G166V|CADPS_ENST00000283269.9_Missense_Mutation_p.G166V	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	166					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.G166V(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTGGGTTTCCCCATTGAGGAA	0.473																																							uc003dll.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(496-498)GGG>GTG		Ca2+-dependent secretion activator isoform 1							141.0	126.0	131.0					3																	62751604		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62751604C>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.497G>T	3.37:g.62751604C>A	ENSP00000373215:p.Gly166Val					CADPS_uc003dlm.2_Missense_Mutation_p.G166V|CADPS_uc003dln.2_Missense_Mutation_p.G166V	p.G166V	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	2	857	-		Lung SC(41;0.0452)	166					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.497G>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751294	0.89753	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;T	0.85339	-1.97;-1.97;-1.97;-1.46	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.92714	0.7684	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.93462	0.6811	10	0.87932	D	0	.	17.9568	0.89072	0.0:1.0:0.0:0.0	.	166;166;166	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	V	166	ENSP00000373215:G166V;ENSP00000350632:G166V;ENSP00000283269:G166V;ENSP00000418736:G166V	ENSP00000283269:G166V	G	-	2	0	CADPS	62726644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.462000	0.80851	2.602000	0.87976	0.655000	0.94253	GGG		0.473	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		22	102	1	0	4.72057e-08	0.003954	6.65004e-08	22	102				
PDZRN3	23024	broad.mit.edu	37	3	73433185	73433185	+	Missense_Mutation	SNP	G	G	T	rs371635820		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:73433185G>T	ENST00000263666.4	-	10	2646	c.2532C>A	c.(2530-2532)gaC>gaA	p.D844E	PDZRN3_ENST00000462146.2_Missense_Mutation_p.D501E|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D566E|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D561E|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D501E	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	844					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D844E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCCGGCTCCCGTCGCTGGCTC	0.667																																							uc003dpl.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2530-2532)GAC>GAA		PDZ domain containing ring finger 3							37.0	43.0	41.0					3																	73433185		2202	4300	6502	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433185G>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2532C>A	3.37:g.73433185G>T	ENSP00000263666:p.Asp844Glu					PDZRN3_uc011bgh.1_Missense_Mutation_p.D501E|PDZRN3_uc010hoe.1_Missense_Mutation_p.D542E|PDZRN3_uc011bgf.1_Missense_Mutation_p.D561E|PDZRN3_uc011bgg.1_Missense_Mutation_p.D564E	p.D844E	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2628	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	844					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2532C>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.773179	0.00640	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.09538	2.97;3.65;3.55;3.55;3.66	5.16	-10.3	0.00346	.	1.739470	0.02598	N	0.100719	T	0.03739	0.0106	N	0.11927	0.2	0.20307	N	0.999919	B;B;B;B	0.19445	0.0;0.008;0.001;0.036	B;B;B;B	0.18561	0.002;0.017;0.004;0.022	T	0.31336	-0.9947	10	0.02654	T	1	.	4.5911	0.12307	0.5342:0.2275:0.1627:0.0756	.	566;561;561;844	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	E	844;566;501;501;561	ENSP00000263666:D844E;ENSP00000442026:D566E;ENSP00000418168:D501E;ENSP00000418484:D501E;ENSP00000418624:D561E	ENSP00000263666:D844E	D	-	3	2	PDZRN3	73515875	0.000000	0.05858	0.000000	0.03702	0.229000	0.25112	-1.914000	0.01579	-2.573000	0.00466	-0.126000	0.14955	GAC		0.667	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		10	40	1	0	0.000978159	0.000978	0.00111244	10	40				
ROBO2	6092	broad.mit.edu	37	3	77147352	77147352	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:77147352G>T	ENST00000461745.1	+	2	1149	c.249G>T	c.(247-249)atG>atT	p.M83I	ROBO2_ENST00000332191.8_Missense_Mutation_p.M83I|ROBO2_ENST00000487694.3_Missense_Mutation_p.M99I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	83	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.M99I(1)|p.M83I(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCCACAGGATGCTTCTGCCCA	0.567																																							uc003dpy.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(247-249)ATG>ATT		roundabout, axon guidance receptor, homolog 2							88.0	96.0	93.0					3																	77147352		2035	4187	6222	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77147352G>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.249G>T	3.37:g.77147352G>T	ENSP00000417164:p.Met83Ile					ROBO2_uc003dpz.2_Missense_Mutation_p.M83I|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.M83I	p.M83I	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	2	892	+			83			Ig-like C2-type 1.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.249G>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809054	0.70797	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.66815	-0.23;-0.23;-0.23	5.06	5.06	0.68205	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.46758	U	0.000264	T	0.44685	0.1305	N	0.03050	-0.425	0.24664	N	0.993458	P;B;P	0.38078	0.617;0.408;0.617	B;B;B	0.37943	0.261;0.17;0.261	T	0.53837	-0.8382	9	0.18710	T	0.47	.	18.4183	0.90577	0.0:0.0:1.0:0.0	.	99;83;83	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	I	99;99;99;83;83	ENSP00000417335:M99I;ENSP00000417164:M83I;ENSP00000327536:M83I	ENSP00000327536:M83I	M	+	3	0	ROBO2	77230042	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	9.864000	0.99589	2.331000	0.79229	0.655000	0.94253	ATG		0.567	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		13	40	1	0	1.52009e-12	0.003163	2.36662e-12	13	40				
ROBO1	6091	broad.mit.edu	37	3	78663903	78663903	+	Missense_Mutation	SNP	C	C	G	rs367940062		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:78663903C>G	ENST00000464233.1	-	28	4443	c.4330G>C	c.(4330-4332)Gtg>Ctg	p.V1444L	ROBO1_ENST00000495273.1_Missense_Mutation_p.V1399L|ROBO1_ENST00000467549.1_Missense_Mutation_p.V1344L|ROBO1_ENST00000436010.2_Missense_Mutation_p.V1405L	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1444					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.V1448L(1)|p.V1421L(1)|p.V1444L(1)|p.V1399L(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTGTAGACACGGGACTTGTG	0.468																																							uc003dqe.2		NA																	4	Substitution - Missense(4)		lung(4)	large_intestine(2)	2						c.(4330-4332)GTG>CTG		roundabout 1 isoform a							102.0	98.0	100.0					3																	78663903		1929	4131	6060	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78663903C>G	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4330G>C	3.37:g.78663903C>G	ENSP00000420321:p.Val1444Leu					ROBO1_uc003dqb.2_Missense_Mutation_p.V1405L|ROBO1_uc003dqc.2_Missense_Mutation_p.V1344L|ROBO1_uc003dqd.2_Missense_Mutation_p.V1399L|ROBO1_uc010hoh.2_Missense_Mutation_p.V636L|ROBO1_uc011bgl.1_Missense_Mutation_p.V1016L	p.V1444L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	28	4538	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1444			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.4330G>C	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687070	0.48097	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.60920	0.25;0.22;0.22;0.15	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	L	0.27053	0.805	0.53688	D	0.999972	B;B;B;B;B	0.28291	0.206;0.0;0.001;0.0;0.0	B;B;B;B;B	0.29176	0.099;0.001;0.003;0.002;0.001	T	0.31308	-0.9948	9	.	.	.	.	13.3359	0.60518	0.0:0.9235:0.0:0.0765	.	1408;1444;1399;1344;1405	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	L	1405;1399;1444;1399;1344;1448	ENSP00000406043:V1405L;ENSP00000420321:V1444L;ENSP00000420637:V1399L;ENSP00000417992:V1344L	.	V	-	1	0	ROBO1	78746593	1.000000	0.71417	0.999000	0.59377	0.666000	0.39218	2.939000	0.48995	2.560000	0.86352	0.585000	0.79938	GTG		0.468	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		3	29	0	0	0	0.004672	0	3	29				
CADM2	253559	broad.mit.edu	37	3	85932560	85932560	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:85932560G>T	ENST00000407528.2	+	3	393	c.331G>T	c.(331-333)Gtc>Ttc	p.V111F	CADM2_ENST00000405615.2_Missense_Mutation_p.V113F|CADM2_ENST00000383699.3_Missense_Mutation_p.V120F	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	111	Ig-like V-type.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.V113F(1)|p.V120F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TACAATGCCTGTCAAAACTTC	0.423																																							uc003dqj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(331-333)GTC>TTC		immunoglobulin superfamily, member 4D							100.0	83.0	89.0					3																	85932560		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85932560G>T	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.331G>T	3.37:g.85932560G>T	ENSP00000384575:p.Val111Phe					CADM2_uc003dqk.2_Missense_Mutation_p.V120F|CADM2_uc003dql.2_Missense_Mutation_p.V113F	p.V111F	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	3	957	+		Lung NSC(201;0.0148)	111			Ig-like V-type.|Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.331G>T	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166177	0.57476	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.27720	1.65;1.65;1.65	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.107851	0.64402	D	0.000007	T	0.53802	0.1819	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.995;0.997	T	0.38243	-0.9670	10	0.14252	T	0.57	.	19.8568	0.96762	0.0:0.0:1.0:0.0	.	113;120;111	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	F	120;111;113	ENSP00000373200:V120F;ENSP00000384575:V111F;ENSP00000384193:V113F	ENSP00000373200:V120F	V	+	1	0	CADM2	86015250	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	7.579000	0.82511	2.764000	0.94973	0.650000	0.86243	GTC		0.423	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		6	43	1	0	0.00116845	0.001168	0.00131559	6	43				
VGLL3	389136	broad.mit.edu	37	3	87018166	87018166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:87018166G>A	ENST00000398399.2	-	3	874	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	VGLL3_ENST00000383698.3_Nonsense_Mutation_p.Q171*	NM_016206.2	NP_057290.2			vestigial-like family member 3									p.Q171*(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CCAGTGACCTGGAAGTCAGGA	0.592																																							uc003dqn.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(511-513)CAG>TAG		colon carcinoma related protein							74.0	76.0	75.0					3																	87018166		1955	4153	6108	SO:0001587	stop_gained	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018166G>A	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.511C>T	3.37:g.87018166G>A	ENSP00000381436:p.Gln171*						p.Q171*	NM_016206	NP_057290	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	875	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	171						Nonsense_Mutation	SNP	ENST00000398399.2	37	c.511C>T	CCDS43110.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.28|17.28	3.348825|3.348825	0.61183|0.61183	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|.	.|.	.|.	5.88|5.88	4.83|4.83	0.62350|0.62350	.|.	.|0.326476	.|0.26923	.|N	.|0.021811	T|.	0.55481|.	0.1923|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.61917|.	-0.6964|.	3|.	.|0.32370	.|T	.|0.25	-10.8574|-10.8574	12.0545|12.0545	0.53527|0.53527	0.1481:0.0:0.8519:0.0|0.1481:0.0:0.8519:0.0	.|.	.|.	.|.	.|.	L|X	104|171	.|.	.|ENSP00000373199:Q171X	P|Q	-|-	2|1	0|0	VGLL3|VGLL3	87100856|87100856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	3.367000|3.367000	0.52350|0.52350	2.791000|2.791000	0.96007|0.96007	0.561000|0.561000	0.74099|0.74099	CCA|CAG		0.592	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		7	88	0	0	0	0.00308	0	7	88				
ARL13B	200894	broad.mit.edu	37	3	93761927	93761927	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:93761927G>A	ENST00000394222.3	+	7	1142	c.867G>A	c.(865-867)ctG>ctA	p.L289L	ARL13B_ENST00000471138.1_Silent_p.L289L|ARL13B_ENST00000535334.1_Silent_p.L186L|ARL13B_ENST00000303097.7_Silent_p.L182L|ARL13B_ENST00000539730.1_Silent_p.L10L	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	289					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)	p.L182L(1)|p.L289L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						GCTGCCACCTGAAACATAAAA	0.323																																							uc003drc.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(865-867)CTG>CTA		ADP-ribosylation factor-like 2-like 1 isoform 1							74.0	73.0	73.0					3																	93761927		2203	4299	6502	SO:0001819	synonymous_variant	200894						GTP binding	g.chr3:93761927G>A	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.867G>A	3.37:g.93761927G>A						ARL13B_uc010hop.2_Silent_p.L140L|ARL13B_uc003drd.2_Silent_p.L182L|ARL13B_uc003dre.2_Silent_p.L274L|ARL13B_uc003drf.2_Silent_p.L289L|ARL13B_uc003drg.2_Silent_p.L186L	p.L289L	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN			7	1153	+			289					D3DN29|G3V1S8|Q504W8|Q8TCL5	Silent	SNP	ENST00000394222.3	37	c.867G>A	CCDS2925.1																																																																																				0.323	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		6	24	0	0	0	0.001984	0	6	24				
EPHA6	285220	broad.mit.edu	37	3	97167434	97167434	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:97167434C>A	ENST00000389672.5	+	7	1792	c.1754C>A	c.(1753-1755)tCt>tAt	p.S585Y	EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	491						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.S491Y(2)|p.S585Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTGACCTACTCTTCCACAAGG	0.438																																							uc010how.1		NA																	3	Substitution - Missense(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(1753-1755)TCT>TAT		EPH receptor A6 isoform a							114.0	111.0	112.0					3																	97167434		1893	4130	6023	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97167434C>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1754C>A	3.37:g.97167434C>A	ENSP00000374323:p.Ser585Tyr					EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.3_5'UTR|EPHA6_uc003drr.3_5'UTR|EPHA6_uc003drt.2_5'UTR|EPHA6_uc010hox.1_RNA	p.S585Y	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			7	1797	+			490			Fibronectin type-III 2.|Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.1754C>A	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322036	0.81580	.	.	ENSG00000080224	ENST00000389672	T	0.56941	0.43	5.46	5.46	0.80206	.	.	.	.	.	T	0.69628	0.3132	M	0.69358	2.11	0.80722	D	1	.	.	.	.	.	.	T	0.71981	-0.4428	7	0.72032	D	0.01	.	19.2991	0.94136	0.0:1.0:0.0:0.0	.	.	.	.	Y	585	ENSP00000374323:S585Y	ENSP00000374323:S585Y	S	+	2	0	EPHA6	98650124	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.487000	0.81328	2.554000	0.86153	0.655000	0.94253	TCT		0.438	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		10	78	1	0	1.58986e-06	0.008291	2.13004e-06	10	78				
EPHA6	285220	broad.mit.edu	37	3	97167456	97167456	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:97167456C>A	ENST00000389672.5	+	7	1814	c.1776C>A	c.(1774-1776)ccC>ccA	p.P592P	EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	498						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.P498P(2)|p.P592P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCAAAGCCCCCAGTGTCATCA	0.448																																							uc010how.1		NA																	3	Substitution - coding silent(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(1774-1776)CCC>CCA		EPH receptor A6 isoform a							115.0	112.0	113.0					3																	97167456		1893	4139	6032	SO:0001819	synonymous_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97167456C>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1776C>A	3.37:g.97167456C>A						EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.3_5'UTR|EPHA6_uc003drr.3_5'UTR|EPHA6_uc003drt.2_5'UTR|EPHA6_uc010hox.1_RNA	p.P592P	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			7	1819	+			497			Fibronectin type-III 2.|Extracellular (Potential).		D6RAL5	Silent	SNP	ENST00000389672.5	37	c.1776C>A	CCDS46876.1																																																																																				0.448	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		10	79	1	0	4.68919e-08	0.008291	6.61615e-08	10	79				
DPPA4	55211	broad.mit.edu	37	3	109050827	109050827	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:109050827T>A	ENST00000335658.6	-	3	284	c.230A>T	c.(229-231)aAg>aTg	p.K77M	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	77					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.K77M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGGTATCTTCTTCTGAGGTCT	0.463																																							uc003dxq.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(229-231)AAG>ATG		developmental pluripotency associated 4							187.0	184.0	185.0					3																	109050827		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109050827T>A	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.230A>T	3.37:g.109050827T>A	ENSP00000335306:p.Lys77Met					DPPA4_uc011bho.1_Missense_Mutation_p.K77M|DPPA4_uc011bhp.1_Missense_Mutation_p.K77M	p.K77M	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			3	285	-			77					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.230A>T	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.702260	0.30232	.	.	ENSG00000121570	ENST00000335658;ENST00000477303	T;T	0.63417	1.79;-0.04	4.91	-2.27	0.06846	.	0.563119	0.17192	N	0.183472	T	0.67505	0.2900	L	0.61218	1.895	0.09310	N	1	D;D;D	0.89917	1.0;0.979;1.0	D;P;D	0.68192	0.956;0.717;0.956	T	0.57883	-0.7734	9	.	.	.	-10.5258	5.8761	0.18830	0.0:0.4443:0.1629:0.3928	.	67;77;77	B7Z5Q7;B7Z595;Q7L190	.;.;DPPA4_HUMAN	M	77;25	ENSP00000335306:K77M;ENSP00000418313:K25M	.	K	-	2	0	DPPA4	110533517	0.196000	0.23350	0.001000	0.08648	0.007000	0.05969	0.623000	0.24447	-0.266000	0.09339	-1.437000	0.01076	AAG		0.463	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		38	159	0	0	0	0.002852	0	38	159				
CFAP44	55779	broad.mit.edu	37	3	113128135	113128135	+	Silent	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:113128135A>G	ENST00000295868.2	-	7	870	c.708T>C	c.(706-708)ttT>ttC	p.F236F	WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000393845.2_Silent_p.F236F|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2												p.F236F(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CGCTGTAGTTAAAGTCCACAT	0.388																																							uc003eae.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(706-708)TTT>TTC		WD repeat domain 52 isoform 2							114.0	108.0	110.0					3																	113128135		2203	4300	6503	SO:0001819	synonymous_variant	55779							g.chr3:113128135A>G																												ENST00000295868.2:c.708T>C	3.37:g.113128135A>G							p.F236F	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			7	754	-			236			WD 1.			Silent	SNP	ENST00000295868.2	37	c.708T>C	CCDS2972.1																																																																																				0.388	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			15	76	0	0	0	0.00245	0	15	76				
DRD3	1814	broad.mit.edu	37	3	113850108	113850108	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:113850108G>T	ENST00000460779.1	-	7	1152	c.863C>A	c.(862-864)cCc>cAc	p.P288H	DRD3_ENST00000383673.2_Missense_Mutation_p.P288H|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000467632.1_Missense_Mutation_p.P288H	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	288					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)	p.P288H(1)		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)	CGCTATGGTGGGACTCAGGGA	0.532																																							uc003ebd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(862-864)CCC>CAC		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						205.0	209.0	208.0					3																	113850108		2203	4300	6503	SO:0001583	missense	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.chr3:113850108G>T		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.863C>A	3.37:g.113850108G>T	ENSP00000419402:p.Pro288His					DRD3_uc010hqn.1_Missense_Mutation_p.P288H|DRD3_uc003ebb.1_Intron|DRD3_uc003ebc.1_Missense_Mutation_p.P288H	p.P288H	NM_000796	NP_000787	P35462	DRD3_HUMAN			7	1286	-			288			Cytoplasmic.		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.863C>A	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611755	0.46631	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673	T;T;T	0.72725	-0.68;-0.68;-0.68	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.234251	0.38605	N	0.001638	T	0.77611	0.4156	L	0.49513	1.565	0.30322	N	0.787497	P;D;D	0.76494	0.915;0.999;0.999	P;D;D	0.66847	0.764;0.947;0.947	T	0.74565	-0.3623	10	0.41790	T	0.15	.	11.8136	0.52195	0.0:0.0:0.8254:0.1746	.	288;288;288	A1A4V4;A8K8E4;P35462	.;.;DRD3_HUMAN	H	288	ENSP00000419402:P288H;ENSP00000420662:P288H;ENSP00000373169:P288H	ENSP00000373169:P288H	P	-	2	0	DRD3	115332798	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	1.369000	0.34227	2.866000	0.98385	0.650000	0.86243	CCC		0.532	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		27	206	1	0	1.39806e-14	0.008361	2.25436e-14	27	206				
ARGFX	503582	broad.mit.edu	37	3	121305010	121305010	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:121305010G>A	ENST00000334384.3	+	4	521	c.511G>A	c.(511-513)Gtg>Atg	p.V171M		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.V171M(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TTTTTCTCCTGTGATTTCAGA	0.493																																							uc003eef.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(511-513)GTG>ATG		arginine-fifty homeobox							181.0	167.0	172.0					3																	121305010		2203	4300	6503	SO:0001583	missense	503582					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121305010G>A		CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.511G>A	3.37:g.121305010G>A	ENSP00000335578:p.Val171Met						p.V171M	NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN		GBM - Glioblastoma multiforme(114;0.152)	5	606	+			171						Missense_Mutation	SNP	ENST00000334384.3	37	c.511G>A	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	G	7.202	0.593758	0.13875	.	.	ENSG00000186103	ENST00000334384	D	0.88664	-2.41	3.56	-2.22	0.06952	.	1.030060	0.07767	N	0.951052	T	0.75250	0.3824	N	0.19112	0.55	0.09310	N	1	B	0.22909	0.077	B	0.20184	0.028	T	0.59134	-0.7511	10	0.33141	T	0.24	0.8698	0.5494	0.00660	0.3733:0.1667:0.2776:0.1825	.	171	A6NJG6	ARGFX_HUMAN	M	171	ENSP00000335578:V171M	ENSP00000335578:V171M	V	+	1	0	ARGFX	122787700	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.249000	0.08842	-0.488000	0.06726	0.561000	0.74099	GTG		0.493	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		22	144	0	0	0	0.00278	0	22	144				
HCLS1	3059	broad.mit.edu	37	3	121351227	121351227	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:121351227C>T	ENST00000314583.3	-	12	1283	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	HCLS1_ENST00000428394.2_Missense_Mutation_p.E361K|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	398					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.E398K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		AGCACCTCCTCATAGTCCCCC	0.552																																							uc003eeh.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1192-1194)GAG>AAG		hematopoietic cell-specific Lyn substrate 1							232.0	215.0	221.0					3																	121351227		2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121351227C>T		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1192G>A	3.37:g.121351227C>T	ENSP00000320176:p.Glu398Lys					HCLS1_uc011bjj.1_Missense_Mutation_p.E361K|HCLS1_uc011bjk.1_RNA	p.E398K	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	12	1317	-			398					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.1192G>A	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507486	0.27036	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.21543	2.0;2.0	5.21	5.21	0.72293	.	0.516898	0.21200	N	0.078492	T	0.33904	0.0879	L	0.36672	1.1	0.51233	D	0.999918	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.971	T	0.00763	-1.1576	10	0.25751	T	0.34	-28.0916	14.1254	0.65217	0.0:1.0:0.0:0.0	.	361;398	E7EVW7;P14317	.;HCLS1_HUMAN	K	398;361	ENSP00000320176:E398K;ENSP00000387645:E361K	ENSP00000320176:E398K	E	-	1	0	HCLS1	122833917	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	3.069000	0.50026	2.719000	0.93026	0.655000	0.94253	GAG		0.552	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		35	247	0	0	0	0.00623	0	35	247				
ADCY5	111	broad.mit.edu	37	3	123049786	123049786	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:123049786G>T	ENST00000462833.1	-	5	2808	c.1596C>A	c.(1594-1596)gaC>gaA	p.D532E	ADCY5_ENST00000309879.5_Missense_Mutation_p.D182E|ADCY5_ENST00000491190.1_Missense_Mutation_p.D165E	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	532	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.D532E(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGTGGGCGTGGTCAGCCCTTG	0.532																																							uc003egh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1594-1596)GAC>GAA		adenylate cyclase 5							85.0	71.0	76.0					3																	123049786		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123049786G>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1596C>A	3.37:g.123049786G>T	ENSP00000419361:p.Asp532Glu					ADCY5_uc003egg.1_Missense_Mutation_p.D165E|ADCY5_uc003egi.1_Missense_Mutation_p.D91E	p.D532E	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	5	1596	-			532			Guanylate cyclase 1.|Cytoplasmic (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.1596C>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136844	0.94517	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	5.78	5.78	0.91487	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.90841	0.7123	M	0.81614	2.55	0.80722	D	1	D;D	0.71674	0.998;0.982	D;P	0.63957	0.92;0.873	D	0.91067	0.4890	10	0.62326	D	0.03	.	10.4134	0.44307	0.1441:0.0:0.8559:0.0	.	532;165	O95622;B3KWA8	ADCY5_HUMAN;.	E	532;165;182;91	ENSP00000419361:D532E;ENSP00000418537:D165E;ENSP00000308685:D182E;ENSP00000420082:D91E	ENSP00000308685:D182E	D	-	3	2	ADCY5	124532476	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.504000	0.53347	2.729000	0.93468	0.650000	0.86243	GAC		0.532	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		5	45	1	0	5.9392e-07	0.001168	8.11361e-07	5	45				
CCDC37	348807	broad.mit.edu	37	3	126152008	126152008	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:126152008C>A	ENST00000352312.1	+	14	1482	c.1383C>A	c.(1381-1383)gcC>gcA	p.A461A	CCDC37_ENST00000505024.1_Silent_p.A462A|CCDC37_ENST00000393425.1_Silent_p.A462A	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	461								p.A461A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGCTCAAAGCCCGAGTCTTCC	0.602																																							uc003eiu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1381-1383)GCC>GCA		coiled-coil domain containing 37							133.0	121.0	125.0					3																	126152008		2203	4300	6503	SO:0001819	synonymous_variant	348807							g.chr3:126152008C>A	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1383C>A	3.37:g.126152008C>A						CCDC37_uc010hsg.1_Silent_p.A462A	p.A461A	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	14	1482	+			461					D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	c.1383C>A	CCDS3037.1																																																																																				0.602	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		13	104	1	0	0.00185496	0.001855	0.0020782	13	104				
PLXND1	23129	broad.mit.edu	37	3	129284183	129284183	+	Splice_Site	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:129284183C>A	ENST00000324093.4	-	25	4699	c.4521G>T	c.(4519-4521)cgG>cgT	p.R1507R	PLXND1_ENST00000393239.1_Splice_Site_p.R1507R	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1507					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.R1507R(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCAGCCTCACCCGCAGACAGC	0.657																																					Ovarian(97;366 1484 3738 22084 39045)	Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(4519-4521)CGG>CGT		plexin D1 precursor							72.0	67.0	69.0					3																	129284183		2203	4300	6503	SO:0001630	splice_region_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129284183C>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4521+1G>T	3.37:g.129284183C>A						PLXND1_uc011blb.1_Silent_p.R175R	p.R1507R	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			25	4621	-			1507			Cytoplasmic (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.4521G>T	CCDS33854.1																																																																																				0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	Silent	6	45	1	0	5.9392e-07	0.001168	8.11361e-07	6	45				
TRPC1	7220	broad.mit.edu	37	3	142524944	142524944	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:142524944T>C	ENST00000476941.1	+	13	2735	c.2249T>C	c.(2248-2250)aTg>aCg	p.M750T	TRPC1_ENST00000273482.6_Missense_Mutation_p.M716T	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	750					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.M716T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AGACAGAAGATGCAAAGTACA	0.398																																							uc003evc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2248-2250)ATG>ACG		transient receptor potential cation channel,							111.0	112.0	112.0					3																	142524944		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142524944T>C	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.2249T>C	3.37:g.142524944T>C	ENSP00000419313:p.Met750Thr					TRPC1_uc003evb.2_Missense_Mutation_p.M716T	p.M750T	NM_003304	NP_003295	P48995	TRPC1_HUMAN			13	2385	+			750					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.2249T>C	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.155544	0.38021	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.79554	-1.28;-1.28	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.68220	0.2977	N	0.11427	0.14	0.80722	D	1	P;P	0.44090	0.826;0.57	B;P	0.44811	0.258;0.461	T	0.67409	-0.5678	10	0.13470	T	0.59	0.1478	15.7661	0.78128	0.0:0.0:0.0:1.0	.	750;716	P48995;P48995-2	TRPC1_HUMAN;.	T	750;716	ENSP00000419313:M750T;ENSP00000273482:M716T	ENSP00000273482:M716T	M	+	2	0	TRPC1	144007634	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.682000	0.84083	2.134000	0.65973	0.460000	0.39030	ATG		0.398	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		9	57	0	0	0	0.004482	0	9	57				
HLTF	6596	broad.mit.edu	37	3	148791111	148791111	+	Splice_Site	SNP	T	T	C	rs138362499		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:148791111T>C	ENST00000310053.5	-	5	723		c.e5-2		HLTF_ENST00000392912.2_Splice_Site|HLTF_ENST00000494055.1_Splice_Site|HLTF_ENST00000465259.1_Splice_Site	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor						chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATCCTAAAGCTATAATTTACA	0.368																																							uc003ewq.1		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e5-1		helicase-like transcription factor		T	,	0,4406		0,0,2203	42.0	46.0	45.0		,	6.0	0.9	3	dbSNP_134	45	1,8599		0,1,4299	no	splice-3,splice-3	HLTF	NM_003071.3,NM_139048.2	,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	,	148791111	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148791111T>C	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.530-2A>G	3.37:g.148791111T>C						HLTF_uc003ewr.1_Splice_Site_p.T177_splice|HLTF_uc003ews.1_Splice_Site_p.T177_splice|HLTF_uc010hve.1_Splice_Site_p.T177_splice	p.T177_splice	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		5	748	-								D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Splice_Site	SNP	ENST00000310053.5	37	c.530_splice	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.078569	0.36662	0.0	1.16E-4	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	.	.	.	6.0	6.0	0.97389	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.769	0.40578	0.1536:0.0:0.0:0.8464	.	.	.	.	.	-1	.	.	.	-	.	.	HLTF	150273801	1.000000	0.71417	0.923000	0.36655	0.417000	0.31264	4.891000	0.63185	2.299000	0.77371	0.529000	0.55759	.		0.368	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1		Intron	8	51	0	0	0	0.00308	0	8	51				
SHOX2	6474	broad.mit.edu	37	3	157820469	157820469	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:157820469G>A	ENST00000425436.3	-	2	578	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	SHOX2_ENST00000490689.2_Nonsense_Mutation_p.Q56*|SHOX2_ENST00000441443.2_Nonsense_Mutation_p.Q56*|SHOX2_ENST00000389589.4_Nonsense_Mutation_p.Q209*|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000483851.2_Nonsense_Mutation_p.Q185*	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	185					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.Q56*(1)|p.Q209*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTGGGTACCTGCACTCGGGCC	0.622																																							uc003fbr.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(553-555)CAG>TAG		short stature homeobox 2 isoform a							58.0	56.0	57.0					3																	157820469		2203	4300	6503	SO:0001587	stop_gained	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157820469G>A	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.553C>T	3.37:g.157820469G>A	ENSP00000398704:p.Gln185*					SHOX2_uc003fbs.2_Nonsense_Mutation_p.Q209*|SHOX2_uc010hvw.2_Nonsense_Mutation_p.Q185*	p.Q185*	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		2	692	-			185			Homeobox.		O60465|O60467|O60903	Nonsense_Mutation	SNP	ENST00000425436.3	37	c.553C>T	CCDS43164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.427579|8.427579	0.98806|0.98806	.|.	.|.	ENSG00000168779|ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000258518	ENST00000555977|ENST00000425436;ENST00000490689;ENST00000389589;ENST00000313019;ENST00000441443;ENST00000483851	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.069802	.|0.64402	.|D	.|0.000020	T|.	0.81894|.	0.4919|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83601|.	0.0128|.	3|.	.|0.87932	.|D	.|0	.|.	19.698|19.698	0.96034|0.96034	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	88|209;56;185;56;56;185	.|.	.|ENSP00000327294:Q56X	A|Q	-|-	2|1	0|0	SHOX2|SHOX2;AC112502.1	159303163|159303163	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.804000|9.804000	0.99143|0.99143	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.622	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			6	54	0	0	0	0.001168	0	6	54				
ZBBX	79740	broad.mit.edu	37	3	167016162	167016162	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:167016162C>A	ENST00000392766.2	-	18	2150	c.1810G>T	c.(1810-1812)Gaa>Taa	p.E604*	ZBBX_ENST00000392764.1_Nonsense_Mutation_p.E575*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.E604*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.E604*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.E604*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	604						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E604*(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGAGTCTTTCATTTGTATCA	0.313																																							uc003fep.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(1810-1812)GAA>TAA		zinc finger, B-box domain containing							132.0	133.0	133.0					3																	167016162		1827	4078	5905	SO:0001587	stop_gained	79740					intracellular	zinc ion binding	g.chr3:167016162C>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1810G>T	3.37:g.167016162C>A	ENSP00000376519:p.Glu604*					ZBBX_uc011bpc.1_Nonsense_Mutation_p.E604*|ZBBX_uc003feq.2_Nonsense_Mutation_p.E575*	p.E604*	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			18	2133	-			604					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Nonsense_Mutation	SNP	ENST00000392766.2	37	c.1810G>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	38	6.763467	0.97821	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	.	.	.	4.9	4.02	0.46733	.	0.465408	0.21876	N	0.067816	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.9121	9.5012	0.39019	0.0:0.9002:0.0:0.0998	.	.	.	.	X	604;604;604;604;575	.	ENSP00000305065:E604X	E	-	1	0	ZBBX	168498856	0.896000	0.30565	0.990000	0.47175	0.303000	0.27691	1.043000	0.30316	1.181000	0.42912	0.591000	0.81541	GAA		0.313	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		12	43	1	0	0.000978159	0.000978	0.00111244	12	43				
GOLIM4	27333	broad.mit.edu	37	3	167761305	167761305	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:167761305C>G	ENST00000470487.1	-	5	1068	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E127Q	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	127	Endosome targeting.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E127Q(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTCTTTAGCTCCTCGTGTTGG	0.368																																							uc003ffe.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(4)|skin(1)	5						c.(379-381)GAG>CAG		golgi integral membrane protein 4							162.0	157.0	159.0					3																	167761305		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167761305C>G	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.379G>C	3.37:g.167761305C>G	ENSP00000417354:p.Glu127Gln					GOLIM4_uc011bpe.1_Missense_Mutation_p.E127Q|GOLIM4_uc011bpf.1_Missense_Mutation_p.E127Q|GOLIM4_uc011bpg.1_Missense_Mutation_p.E127Q	p.E127Q	NM_014498	NP_055313	O00461	GOLI4_HUMAN			5	723	-			127			Endosome targeting.|Potential.|Lumenal (Potential).			Missense_Mutation	SNP	ENST00000470487.1	37	c.379G>C	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953880	0.92660	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.43	5.43	0.79202	.	0.090601	0.85682	D	0.000000	T	0.79736	0.4497	M	0.76002	2.32	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77354	-0.2619	9	0.37606	T	0.19	-24.6919	19.6602	0.95864	0.0:1.0:0.0:0.0	.	127;127	F8W785;O00461	.;GOLI4_HUMAN	Q	127	.	ENSP00000309893:E127Q	E	-	1	0	GOLIM4	169243999	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.986000	0.76200	2.735000	0.93741	0.549000	0.68633	GAG		0.368	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			19	110	0	0	0	0.010504	0	19	110				
PLD1	5337	broad.mit.edu	37	3	171395355	171395355	+	Splice_Site	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:171395355C>T	ENST00000351298.4	-	17	2123		c.e17+1		PLD1_ENST00000342215.6_Splice_Site|PLD1_ENST00000356327.5_Splice_Site|PLD1_ENST00000340989.4_Splice_Site	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific						chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.?(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATGATACTCACCAGCAAAAGG	0.418																																					NSCLC(149;2174 3517 34058)	NSCLC(149;2174 3517 34058)	uc003fhs.2		NA																	1	Unknown(1)		lung(1)	ovary(2)|lung(1)	3						c.e17+1		phospholipase D1 isoform a	Choline(DB00122)						180.0	159.0	166.0					3																	171395355		2203	4300	6503	SO:0001630	splice_region_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171395355C>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1996+1G>A	3.37:g.171395355C>T						PLD1_uc003fht.2_Splice_Site_p.D628_splice|PLD1_uc003fhu.3_5'Flank|PLD1_uc003fhv.1_Intron	p.D666_splice	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		17	2112	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)								Splice_Site	SNP	ENST00000351298.4	37	c.1996_splice	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490016	0.84962	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLD1	172878049	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.414000	0.80117	2.937000	0.99478	0.650000	0.86243	.		0.418	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	Intron	17	143	0	0	0	0.002299	0	17	143				
NLGN1	22871	broad.mit.edu	37	3	173998675	173998675	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:173998675C>G	ENST00000457714.1	+	7	2483	c.2054C>G	c.(2053-2055)tCa>tGa	p.S685*	NLGN1_ENST00000401917.3_Nonsense_Mutation_p.S725*|NLGN1_ENST00000361589.4_Nonsense_Mutation_p.S685*|NLGN1_ENST00000545397.1_Nonsense_Mutation_p.S685*	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	702					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.S685*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTTGGAGCATCACTGCTGTTT	0.473																																							uc003fio.1		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(2053-2055)TCA>TGA		neuroligin 1							98.0	99.0	99.0					3																	173998675		2203	4300	6503	SO:0001587	stop_gained	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998675C>G	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2054C>G	3.37:g.173998675C>G	ENSP00000392500:p.Ser685*					NLGN1_uc003fip.1_Nonsense_Mutation_p.S685*	p.S685*	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2477	+	Ovarian(172;0.0025)		702			Helical; (Potential).		Q9UPT2	Nonsense_Mutation	SNP	ENST00000457714.1	37	c.2054C>G	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	C	36	5.672028	0.96754	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	.	.	.	X	685;685;685;725	.	ENSP00000354541:S685X	S	+	2	0	NLGN1	175481369	1.000000	0.71417	0.952000	0.39060	0.783000	0.44284	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	TCA		0.473	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		12	60	0	0	0	0.001368	0	12	60				
MFN1	55669	broad.mit.edu	37	3	179104264	179104264	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:179104264C>T	ENST00000471841.1	+	16	1985	c.1859C>T	c.(1858-1860)aCt>aTt	p.T620I	MFN1_ENST00000263969.5_Missense_Mutation_p.T620I|MFN1_ENST00000280653.7_Missense_Mutation_p.T509I	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	620					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T620I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GTTTCATTAACTATGTATGGA	0.388																																							uc003fjs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1858-1860)ACT>ATT		mitofusin 1							70.0	72.0	71.0					3																	179104264		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179104264C>T	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.1859C>T	3.37:g.179104264C>T	ENSP00000420617:p.Thr620Ile					MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.T648I|MFN1_uc010hxc.2_Missense_Mutation_p.T362I	p.T620I	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		16	1985	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		620			Helical; Name=2; (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.1859C>T	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492462	0.64074	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000263969;ENST00000474903	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	5.81	4.94	0.65067	Fzo/mitofusin HR2 domain (1);	0.263944	0.47852	D	0.000202	D	0.90045	0.6891	N	0.04508	-0.205	0.21579	N	0.999635	B;B;B	0.24675	0.108;0.109;0.109	B;B;B	0.30943	0.099;0.122;0.077	T	0.82557	-0.0398	10	0.39692	T	0.17	-14.5298	11.6213	0.51119	0.0:0.1399:0.7248:0.1352	.	509;648;620	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	I	620;509;620;372	ENSP00000420617:T620I;ENSP00000280653:T509I;ENSP00000263969:T620I;ENSP00000419926:T372I	ENSP00000263969:T620I	T	+	2	0	MFN1	180586958	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	4.734000	0.62043	1.471000	0.48121	-0.171000	0.13296	ACT		0.388	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		10	79	0	0	0	0.006214	0	10	79				
MFN1	55669	broad.mit.edu	37	3	179104270	179104270	+	Missense_Mutation	SNP	A	A	G	rs186960036		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:179104270A>G	ENST00000471841.1	+	16	1991	c.1865A>G	c.(1864-1866)tAt>tGt	p.Y622C	MFN1_ENST00000263969.5_Missense_Mutation_p.Y622C|MFN1_ENST00000280653.7_Missense_Mutation_p.Y511C	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	622					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Y622C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTAACTATGTATGGAGCTTTG	0.393													A|||	1	0.000199681	0.0	0.0	5008	,	,		18374	0.001		0.0	False		,,,				2504	0.0						uc003fjs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1864-1866)TAT>TGT		mitofusin 1							76.0	77.0	76.0					3																	179104270		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179104270A>G	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.1865A>G	3.37:g.179104270A>G	ENSP00000420617:p.Tyr622Cys					MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.Y650C|MFN1_uc010hxc.2_Missense_Mutation_p.Y364C	p.Y622C	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		16	1991	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		622			Helical; Name=2; (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.1865A>G	CCDS3228.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	24.0	4.485048	0.84854	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000263969;ENST00000474903	D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47	5.81	5.81	0.92471	Fzo/mitofusin HR2 domain (1);	0.000000	0.85682	D	0.000000	D	0.98635	0.9543	M	0.88775	2.98	0.36392	D	0.862589	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99973	1.2091	10	0.87932	D	0	-18.5885	16.1652	0.81750	1.0:0.0:0.0:0.0	.	511;650;622	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	C	622;511;622;374	ENSP00000420617:Y622C;ENSP00000280653:Y511C;ENSP00000263969:Y622C;ENSP00000419926:Y374C	ENSP00000263969:Y622C	Y	+	2	0	MFN1	180586964	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.913000	0.75759	2.230000	0.72887	0.528000	0.53228	TAT		0.393	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		11	79	0	0	0	0.008291	0	11	79				
PEX5L	51555	broad.mit.edu	37	3	179605481	179605481	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:179605481G>T	ENST00000467460.1	-	4	620	c.290C>A	c.(289-291)cCa>cAa	p.P97Q	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.P73Q|PEX5L_ENST00000476138.1_Missense_Mutation_p.P54Q|PEX5L_ENST00000464614.1_Missense_Mutation_p.P54Q|PEX5L_ENST00000472994.1_Missense_Mutation_p.P38Q|PEX5L_ENST00000392649.3_Missense_Mutation_p.P54Q|PEX5L_ENST00000263962.8_Missense_Mutation_p.P95Q|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000485199.1_Missense_Mutation_p.P62Q	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	97					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.P97Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GGATGTTACTGGCCTTGCTAT	0.393																																							uc003fki.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(289-291)CCA>CAA		peroxisomal biogenesis factor 5-like							213.0	213.0	213.0					3																	179605481		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179605481G>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.290C>A	3.37:g.179605481G>T	ENSP00000419975:p.Pro97Gln					PEX5L_uc011bqd.1_Missense_Mutation_p.P54Q|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Missense_Mutation_p.P54Q|PEX5L_uc003fkj.1_Missense_Mutation_p.P62Q|PEX5L_uc010hxd.1_Missense_Mutation_p.P95Q|PEX5L_uc011bqg.1_Missense_Mutation_p.P73Q|PEX5L_uc011bqh.1_Missense_Mutation_p.P38Q	p.P97Q	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		4	420	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		97					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.290C>A	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834503	0.71373	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000469198;ENST00000463761	D;D;D;D;D;D;D;D	0.91792	-2.82;-2.82;-2.71;-2.91;-2.75;-2.74;-2.91;-2.77	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.93880	0.8042	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.80764	0.905;0.963;0.994;0.988;0.97;0.963	D	0.94533	0.7738	10	0.87932	D	0	-12.5502	19.8506	0.96738	0.0:0.0:1.0:0.0	.	38;73;54;95;62;97	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	Q	97;95;62;95;54;54;50;38;54;73;86;121	ENSP00000419975:P97Q;ENSP00000263962:P95Q;ENSP00000418440:P62Q;ENSP00000376420:P54Q;ENSP00000420555:P54Q;ENSP00000418054:P38Q;ENSP00000417270:P54Q;ENSP00000419348:P73Q	ENSP00000263962:P95Q	P	-	2	0	PEX5L	181088175	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.230000	0.95299	2.686000	0.91538	0.655000	0.94253	CCA		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		32	181	1	0	7.16026e-08	0.002445	9.99338e-08	32	181				
TTC14	151613	broad.mit.edu	37	3	180322022	180322022	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:180322022C>T	ENST00000296015.4	+	4	628	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	TTC14_ENST00000412756.2_Missense_Mutation_p.P166S|TTC14_ENST00000382584.4_Missense_Mutation_p.P166S|RP11-496B10.3_ENST00000472596.1_lincRNA	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	166	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.						RNA binding (GO:0003723)	p.P166S(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GGCTCTTTGTCCCTTAAGAGA	0.358																																							uc003fkk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(496-498)CCC>TCC		tetratricopeptide repeat domain 14 isoform a							95.0	92.0	93.0					3																	180322022		2203	4300	6503	SO:0001583	missense	151613						RNA binding	g.chr3:180322022C>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.496C>T	3.37:g.180322022C>T	ENSP00000296015:p.Pro166Ser					TTC14_uc003fkl.2_Missense_Mutation_p.P166S|TTC14_uc003fkm.2_Missense_Mutation_p.P166S	p.P166S	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		4	628	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		166			S1 motif.		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.496C>T	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242182	0.79912	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584;ENST00000492617;ENST00000495660	T;T	0.49432	0.78;0.78	4.47	4.47	0.54385	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.051723	0.85682	D	0.000000	T	0.67590	0.2909	M	0.72118	2.19	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	P;D;P	0.69479	0.904;0.964;0.879	T	0.72574	-0.4252	10	0.87932	D	0	-11.9352	17.687	0.88258	0.0:1.0:0.0:0.0	.	166;166;166	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	S	166;166;166;66;66	ENSP00000296015:P166S;ENSP00000372027:P166S	ENSP00000296015:P166S	P	+	1	0	TTC14	181804716	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.037000	0.76531	2.476000	0.83614	0.650000	0.86243	CCC		0.358	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		10	75	0	0	0	0.008291	0	10	75				
FXR1	8087	broad.mit.edu	37	3	180667013	180667013	+	Splice_Site	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:180667013A>T	ENST00000357559.4	+	7	897		c.e7-1		FXR1_ENST00000491062.1_Splice_Site|FXR1_ENST00000468861.1_Splice_Site|FXR1_ENST00000305586.7_Splice_Site|FXR1_ENST00000445140.2_Splice_Site|FXR1_ENST00000480918.1_Splice_Site	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1						apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GTTTGTTTATAGTCTGCCAGT	0.378																																							uc003fkq.2		NA																	1	Unknown(1)		lung(1)	breast(1)	1						c.e7-2		fragile X mental retardation-related protein 1							150.0	152.0	152.0					3																	180667013		2203	4300	6503	SO:0001630	splice_region_variant	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180667013A>T	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.514-1A>T	3.37:g.180667013A>T						FXR1_uc003fkp.2_Splice_Site_p.S87_splice|FXR1_uc003fkr.2_Splice_Site_p.S172_splice|FXR1_uc011bqj.1_Splice_Site_p.S86_splice|FXR1_uc003fks.2_Splice_Site_p.S86_splice|FXR1_uc011bqk.1_Splice_Site_p.S123_splice|FXR1_uc011bql.1_Splice_Site_p.S159_splice	p.S172_splice	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		7	536	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)							A8K9B8|Q7Z450|Q8N6R8	Splice_Site	SNP	ENST00000357559.4	37	c.514_splice	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.675457	0.88445	.	.	ENSG00000114416	ENST00000469882;ENST00000465551;ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000484958;ENST00000480918	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5604	0.76240	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FXR1	182149707	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	7.490000	0.81461	2.067000	0.61834	0.383000	0.25322	.		0.378	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5		Intron	21	154	0	0	0	0.002299	0	21	154				
VPS8	23355	broad.mit.edu	37	3	184648287	184648287	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:184648287C>G	ENST00000437079.3	+	34	3000	c.2829C>G	c.(2827-2829)atC>atG	p.I943M	VPS8_ENST00000287546.4_Missense_Mutation_p.I943M|VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000446204.2_Missense_Mutation_p.I851M|VPS8_ENST00000436792.2_Missense_Mutation_p.I941M	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	943							zinc ion binding (GO:0008270)	p.I943M(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TTCACAATATCTTATCCATTC	0.398																																							uc003fpb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2821-2823)ATC>ATG		vacuolar protein sorting 8 homolog isoform b							163.0	152.0	156.0					3																	184648287		1925	4143	6068	SO:0001583	missense	23355						zinc ion binding	g.chr3:184648287C>G	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2829C>G	3.37:g.184648287C>G	ENSP00000397879:p.Ile943Met					VPS8_uc010hyd.1_Missense_Mutation_p.I851M|VPS8_uc010hye.1_Missense_Mutation_p.I370M	p.I941M	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		33	2994	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		943					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.2823C>G	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865503	0.71949	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.19532	2.14;2.14;2.14;2.15	5.9	3.14	0.36123	Quinonprotein alcohol dehydrogenase-like (1);	0.056895	0.64402	D	0.000001	T	0.30262	0.0759	L	0.50333	1.59	0.51482	D	0.999924	P;D;P	0.57899	0.788;0.981;0.834	B;P;B	0.59424	0.157;0.857;0.316	T	0.01945	-1.1242	10	0.40728	T	0.16	-15.8674	6.9733	0.24660	0.1307:0.6752:0.0:0.1941	.	943;851;941	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	M	943;943;941;851	ENSP00000287546:I943M;ENSP00000397879:I943M;ENSP00000404704:I941M;ENSP00000405483:I851M	ENSP00000287546:I943M	I	+	3	3	VPS8	186130981	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.773000	0.26661	0.823000	0.34589	0.650000	0.86243	ATC		0.398	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		16	59	0	0	0	0.006122	0	16	59				
LINC00969	440993	broad.mit.edu	37	3	195400791	195400791	+	lincRNA	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr3:195400791A>T	ENST00000445430.1	+	0	1387									long intergenic non-protein coding RNA 969																		CCTCGGGGCAAACTCGCTGTT	0.597																																							uc003fuw.2		NA																	0					0						c.(85-87)CAA>CAT		SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);																																						727956							g.chr3:195400791A>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400791A>T						SDHAP2_uc011btb.1_Missense_Mutation_p.N177Y|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA	p.Q29H							9	1281	+									Missense_Mutation	SNP	ENST00000445430.1	37	c.87A>T																																																																																					0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	27	0	0	0	0.000602	0	5	27				
FGFRL1	53834	broad.mit.edu	37	4	1018200	1018200	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:1018200G>T	ENST00000398484.2	+	7	1400	c.820G>T	c.(820-822)Gtg>Ttg	p.V274L	FGFRL1_ENST00000510644.1_Missense_Mutation_p.V274L|FGFRL1_ENST00000264748.6_Missense_Mutation_p.V274L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.V274L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	274	Ig-like C2-type 3.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)	p.V244L(1)|p.V274L(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCGCAGCGACGTGAAGCCGGT	0.667																																							uc003gce.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(820-822)GTG>TTG		fibroblast growth factor receptor-like 1							60.0	57.0	58.0					4																	1018200		2202	4299	6501	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018200G>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.820G>T	4.37:g.1018200G>T	ENSP00000381498:p.Val274Leu					FGFRL1_uc003gcf.2_Missense_Mutation_p.V274L|FGFRL1_uc003gcg.2_Missense_Mutation_p.V274L|FGFRL1_uc010ibo.2_Missense_Mutation_p.V274L	p.V274L	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		6	981	+			274			Ig-like C2-type 3.|Extracellular (Potential).		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.820G>T	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	g	35	5.431238	0.96150	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	N	0.10945	0.07	0.80722	D	1	D	0.62365	0.991	D	0.69479	0.964	T	0.69316	-0.5177	10	0.33141	T	0.24	-22.2373	17.8682	0.88803	0.0:0.0:1.0:0.0	.	274	Q8N441	FGRL1_HUMAN	L	274;244;274;274;274	ENSP00000381498:V274L;ENSP00000425025:V274L;ENSP00000423091:V274L;ENSP00000264748:V274L	ENSP00000264748:V274L	V	+	1	0	FGFRL1	1008200	1.000000	0.71417	0.995000	0.50966	0.866000	0.49608	7.407000	0.80029	2.466000	0.83321	0.574000	0.79327	GTG		0.667	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		11	32	1	0	1.5842e-08	0.001855	2.24927e-08	11	32				
HTT	3064	broad.mit.edu	37	4	3137637	3137637	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:3137637G>T	ENST00000355072.5	+	20	2785	c.2640G>T	c.(2638-2640)gtG>gtT	p.V880V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	880					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.V880V(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTAGGCTGGTGAGCTTTTTGG	0.428																																							uc011bvq.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(2644-2646)GTG>GTT		huntingtin							153.0	141.0	145.0					4																	3137637		1856	4099	5955	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3137637G>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2640G>T	4.37:g.3137637G>T							p.V882V	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	21	2791	+		all_epithelial(65;0.18)	880					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.2646G>T	CCDS43206.1																																																																																				0.428	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		10	88	1	0	7.48243e-07	0.006214	1.00996e-06	10	88				
SLC34A2	10568	broad.mit.edu	37	4	25669550	25669550	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:25669550G>C	ENST00000382051.3	+	6	622	c.572G>C	c.(571-573)gGa>gCa	p.G191A	SLC34A2_ENST00000503434.1_Missense_Mutation_p.G190A|SLC34A2_ENST00000504570.1_Missense_Mutation_p.G190A|SLC34A2_ENST00000510033.2_3'UTR	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	191					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.G191A(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCCAACATTGGAACGTCAATC	0.512			T	ROS1	NSCLC																																		uc003grr.2		NA		Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|kidney(1)	5						c.(571-573)GGA>GCA		solute carrier family 34 (sodium phosphate),							130.0	111.0	118.0					4																	25669550		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25669550G>C	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.572G>C	4.37:g.25669550G>C	ENSP00000371483:p.Gly191Ala					SLC34A2_uc003grs.2_Missense_Mutation_p.G190A|SLC34A2_uc010iev.2_Missense_Mutation_p.G190A	p.G191A	NM_006424	NP_006415	O95436	NPT2B_HUMAN			6	653	+		Breast(46;0.0503)	191			Cytoplasmic (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.572G>C	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950391	0.73787	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.96334	-3.98;-3.98;-3.98	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.99214	0.9727	H	0.99900	4.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.98264	1.0500	10	0.87932	D	0	-22.7164	18.0109	0.89222	0.0:0.0:1.0:0.0	.	190;191	O95436-2;O95436	.;NPT2B_HUMAN	A	190;191;190	ENSP00000425501:G190A;ENSP00000371483:G191A;ENSP00000423021:G190A	ENSP00000371483:G191A	G	+	2	0	SLC34A2	25278648	1.000000	0.71417	0.990000	0.47175	0.923000	0.55619	9.657000	0.98554	2.577000	0.86979	0.561000	0.74099	GGA		0.512	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		4	35	0	0	0	0.009096	0	4	35				
GABRG1	2565	broad.mit.edu	37	4	46053639	46053639	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:46053639C>A	ENST00000295452.4	-	8	1100	c.933G>T	c.(931-933)ctG>ctT	p.L311L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	311					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L311L(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGTCATAGTCAGAACTGTAG	0.353																																							uc003gxb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(931-933)CTG>CTT		gamma-aminobutyric acid A receptor, gamma 1							80.0	76.0	78.0					4																	46053639		2203	4300	6503	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46053639C>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.933G>T	4.37:g.46053639C>A							p.L311L	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	8	1085	-			311			Helical; (Probable).		Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.933G>T	CCDS3470.1																																																																																				0.353	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		4	37	1	0	1.23904e-05	0.000602	1.57585e-05	4	37				
FRYL	285527	broad.mit.edu	37	4	48553511	48553511	+	Splice_Site	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:48553511C>T	ENST00000503238.1	-	34	4519	c.4520G>A	c.(4519-4521)aGc>aAc	p.S1507N	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Splice_Site_p.S1507N|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Splice_Site_p.S1507N|FRYL_ENST00000507711.1_Splice_Site_p.S1507N			O94915	FRYL_HUMAN	FRY-like	1507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.S1507N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAGTACTTACCTCTCTTCAAT	0.368																																							uc003gyh.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(4519-4521)AGC>AAC		furry-like							129.0	125.0	126.0					4																	48553511		1856	4098	5954	SO:0001630	splice_region_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48553511C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4520+1G>A	4.37:g.48553511C>T						FRYL_uc003gyk.2_Missense_Mutation_p.S1507N|FRYL_uc003gyg.1_Missense_Mutation_p.S203N|FRYL_uc003gyi.1_Missense_Mutation_p.S396N	p.S1507N	NM_015030	NP_055845	O94915	FRYL_HUMAN			37	5125	-			1507					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.4520G>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	6.772	0.511372	0.12944	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.46451	1.9;1.9;1.9;0.87	5.86	3.24	0.37175	Armadillo-type fold (1);	0.292535	0.34580	N	0.003852	T	0.24392	0.0591	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.001;0.001;0.002	T	0.05115	-1.0905	9	.	.	.	.	8.8007	0.34907	0.0:0.6479:0.0:0.3521	.	1507;338;1507;1507	F2Z2S2;Q6ZR29;O94915;F5GX82	.;.;FRYL_HUMAN;.	N	1507	ENSP00000426064:S1507N;ENSP00000351113:S1507N;ENSP00000441114:S1507N;ENSP00000421584:S1507N	.	S	-	2	0	FRYL	48248268	1.000000	0.71417	0.997000	0.53966	0.062000	0.15995	1.457000	0.35212	0.401000	0.25424	0.650000	0.86243	AGC		0.368	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Missense_Mutation	14	57	0	0	0	0.00245	0	14	57				
LPHN3	23284	broad.mit.edu	37	4	62812636	62812636	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:62812636G>T	ENST00000514591.1	+	15	2549	c.2220G>T	c.(2218-2220)gaG>gaT	p.E740D	LPHN3_ENST00000509896.1_Missense_Mutation_p.E808D|LPHN3_ENST00000545650.1_Missense_Mutation_p.E740D|LPHN3_ENST00000507164.1_Missense_Mutation_p.E808D|LPHN3_ENST00000504896.1_Missense_Mutation_p.E740D|LPHN3_ENST00000506720.1_Missense_Mutation_p.E808D|LPHN3_ENST00000508946.1_Missense_Mutation_p.E740D|LPHN3_ENST00000506700.1_Missense_Mutation_p.E740D|LPHN3_ENST00000507625.1_Missense_Mutation_p.E808D|LPHN3_ENST00000511324.1_Missense_Mutation_p.E808D|LPHN3_ENST00000508693.1_Missense_Mutation_p.E808D|LPHN3_ENST00000512091.2_Missense_Mutation_p.E740D|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000506746.1_Missense_Mutation_p.E808D|LPHN3_ENST00000514157.1_Missense_Mutation_p.E740D|LPHN3_ENST00000514996.1_Missense_Mutation_p.E740D			Q9HAR2	LPHN3_HUMAN	latrophilin 3	727					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.E740D(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTTTAGGAGAGATCAGAGTGG	0.363																																							uc010ihh.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2218-2220)GAG>GAT		latrophilin 3 precursor							220.0	205.0	210.0					4																	62812636		1861	4105	5966	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62812636G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2220G>T	4.37:g.62812636G>T	ENSP00000422533:p.Glu740Asp					LPHN3_uc003hcq.3_Missense_Mutation_p.E740D|LPHN3_uc003hct.2_Missense_Mutation_p.E133D	p.E740D	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			13	2393	+			727			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2220G>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.826220|2.826220	0.50739|0.50739	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.11495	.|2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77	5.51|5.51	0.888|0.888	0.19206|0.19206	.|Domain of unknown function DUF3497 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.18759|0.18759	0.0450|0.0450	L|L	0.44542|0.44542	1.39|1.39	0.41032|0.41032	D|D	0.985161|0.985161	.|D;D;D	.|0.69078	.|0.997;0.997;0.996	.|D;D;D	.|0.79108	.|0.992;0.992;0.987	T|T	0.01899|0.01899	-1.1251|-1.1251	5|10	.|0.72032	.|D	.|0.01	.|.	5.4091|5.4091	0.16339|0.16339	0.5122:0.1493:0.3386:0.0|0.5122:0.1493:0.3386:0.0	.|.	.|740;727;740	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	Y|D	198|740;740;808;808;740;740;727;740;808;808;808;740;740;740;808;808;740	.|ENSP00000423388:E740D;ENSP00000422533:E740D;ENSP00000423787:E808D;ENSP00000425033:E808D;ENSP00000424120:E740D;ENSP00000439831:E740D;ENSP00000421476:E808D;ENSP00000424030:E808D;ENSP00000421372:E808D;ENSP00000425201:E740D;ENSP00000423434:E740D;ENSP00000421627:E740D;ENSP00000420931:E808D;ENSP00000425884:E808D;ENSP00000424258:E740D	.|ENSP00000280009:E740D	D|E	+|+	1|3	0|2	LPHN3|LPHN3	62495231|62495231	0.985000|0.985000	0.35326|0.35326	0.998000|0.998000	0.56505|0.56505	0.946000|0.946000	0.59487|0.59487	0.165000|0.165000	0.16564|0.16564	0.049000|0.049000	0.15920|0.15920	-0.262000|-0.262000	0.10625|0.10625	GAT|GAG		0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			20	140	1	0	1.2644e-06	0.010504	1.69904e-06	20	140				
EPHA5	2044	broad.mit.edu	37	4	66356384	66356384	+	Silent	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:66356384A>G	ENST00000273854.3	-	5	1713	c.1113T>C	c.(1111-1113)acT>acC	p.T371T	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Silent_p.T371T|EPHA5_ENST00000354839.4_Silent_p.T371T	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	371	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.T371T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GAAAGACACTAGTTTCATTAA	0.418										TSP Lung(17;0.13)																													uc003hcy.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1111-1113)ACT>ACC		ephrin receptor EphA5 isoform a precursor							66.0	59.0	62.0					4																	66356384		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356384A>G	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1113T>C	4.37:g.66356384A>G		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Silent_p.T302T|EPHA5_uc003hcz.2_Silent_p.T371T|EPHA5_uc011cah.1_Silent_p.T371T|EPHA5_uc011cai.1_Silent_p.T371T|EPHA5_uc003hda.2_Silent_p.T371T	p.T371T	NM_004439	NP_004430	P54756	EPHA5_HUMAN			5	1306	-			371			Fibronectin type-III 1.|Extracellular (Potential).		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.1113T>C	CCDS3513.1																																																																																				0.418	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		4	48	0	0	0	0.009096	0	4	48				
STAP1	26228	broad.mit.edu	37	4	68449311	68449311	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:68449311C>G	ENST00000265404.2	+	6	632	c.550C>G	c.(550-552)Cgg>Ggg	p.R184G	STAP1_ENST00000396225.1_Missense_Mutation_p.R184G	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	184	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.R184G(1)		NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TACAGTGTCCCGGAAAGAGGC	0.373																																							uc003hde.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(550-552)CGG>GGG		signal transducing adaptor family member 1							47.0	46.0	46.0					4																	68449311		2203	4300	6503	SO:0001583	missense	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68449311C>G	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.550C>G	4.37:g.68449311C>G	ENSP00000265404:p.Arg184Gly					STAP1_uc003hdf.2_Missense_Mutation_p.R184G	p.R184G	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN			6	632	+			184			SH2.		B2R980	Missense_Mutation	SNP	ENST00000265404.2	37	c.550C>G	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922795	0.52653	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	D;D	0.92299	-3.01;-3.01	5.73	2.95	0.34219	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.95608	0.8572	M	0.82823	2.61	0.43863	D	0.996465	D	0.89917	1.0	D	0.91635	0.999	D	0.94747	0.7924	10	0.87932	D	0	-10.1053	11.6698	0.51395	0.4688:0.5312:0.0:0.0	.	184	Q9ULZ2	STAP1_HUMAN	G	184	ENSP00000265404:R184G;ENSP00000379527:R184G	ENSP00000265404:R184G	R	+	1	2	STAP1	68131906	0.953000	0.32496	0.995000	0.50966	0.891000	0.51852	0.869000	0.27996	0.293000	0.22520	-0.182000	0.12963	CGG		0.373	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		5	31	0	0	0	0.001984	0	5	31				
TMPRSS11A	339967	broad.mit.edu	37	4	68810272	68810272	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:68810272G>T	ENST00000334830.7	-	3	963	c.217C>A	c.(217-219)Caa>Aaa	p.Q73K	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.Q73K|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.Q72K			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	73	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.Q73K(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCCTTAAGTTGATATGTGTTG	0.343																																					NSCLC(26;2 894 10941 14480 22546)	NSCLC(26;2 894 10941 14480 22546)	uc003hdr.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(217-219)CAA>AAA		transmembrane protease, serine 11A isoform 1							184.0	182.0	182.0					4																	68810272		2203	4300	6503	SO:0001583	missense	339967				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68810272G>T	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.217C>A	4.37:g.68810272G>T	ENSP00000334611:p.Gln73Lys					LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.Q73K	p.Q73K	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN			3	338	-			73			SEA.|Extracellular (Potential).		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	c.217C>A	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	G	0.498	-0.872150	0.02570	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.28	4.44	0.53790	SEA (1);	0.261873	0.27004	N	0.021412	T	0.33147	0.0853	M	0.70595	2.14	0.09310	N	1	P;P	0.34462	0.454;0.454	B;B	0.31016	0.123;0.087	T	0.20240	-1.0281	10	0.14252	T	0.57	.	11.2325	0.48920	0.0:0.0:0.8177:0.1822	.	73;73	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	K	72;73;73;53	ENSP00000426911:Q72K;ENSP00000334611:Q73K;ENSP00000379491:Q73K;ENSP00000427621:Q53K	ENSP00000334611:Q73K	Q	-	1	0	TMPRSS11A	68492867	0.049000	0.20398	0.006000	0.13384	0.061000	0.15899	1.825000	0.39081	1.443000	0.47586	0.655000	0.94253	CAA		0.343	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		9	96	1	0	0.00621372	0.006214	0.00673588	9	96				
SLC4A4	8671	broad.mit.edu	37	4	72121090	72121090	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:72121090C>T	ENST00000264485.5	+	3	344	c.227C>T	c.(226-228)tCc>tTc	p.S76F	SLC4A4_ENST00000425175.1_Missense_Mutation_p.S76F|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.S76F	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	76					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.S76F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GCTGATGAATCCAGCAGCAGC	0.443																																							uc003hfy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|skin(1)	5						c.(226-228)TCC>TTC		solute carrier family 4, sodium bicarbonate							136.0	139.0	138.0					4																	72121090		1938	4134	6072	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72121090C>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.227C>T	4.37:g.72121090C>T	ENSP00000264485:p.Ser76Phe					SLC4A4_uc010iic.2_Missense_Mutation_p.S76F|SLC4A4_uc010iib.2_Missense_Mutation_p.S76F|SLC4A4_uc003hfz.2_Missense_Mutation_p.S76F|SLC4A4_uc003hga.2_5'UTR	p.S76F	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		3	344	+			76			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.227C>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321099	0.41096	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898	T;T;T	0.79247	-1.25;-1.25;-0.88	5.7	5.7	0.88788	.	0.525197	0.20993	N	0.081981	T	0.80154	0.4571	L	0.48362	1.52	0.41141	D	0.985957	B;B;B	0.31351	0.241;0.32;0.0	B;B;B	0.41236	0.044;0.351;0.001	T	0.79412	-0.1814	10	0.72032	D	0.01	.	19.8484	0.96730	0.0:1.0:0.0:0.0	.	76;76;76	A5JJ20;Q9Y6R1-4;Q9Y6R1	.;.;S4A4_HUMAN	F	76	ENSP00000264485:S76F;ENSP00000393557:S76F;ENSP00000307349:S76F	ENSP00000264485:S76F	S	+	2	0	SLC4A4	72339954	1.000000	0.71417	0.836000	0.33094	0.183000	0.23260	5.718000	0.68455	2.690000	0.91761	0.650000	0.86243	TCC		0.443	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		16	121	0	0	0	0.004007	0	16	121				
SLC4A4	8671	broad.mit.edu	37	4	72121092	72121092	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:72121092A>T	ENST00000264485.5	+	3	346	c.229A>T	c.(229-231)Agc>Tgc	p.S77C	SLC4A4_ENST00000425175.1_Missense_Mutation_p.S77C|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.S77C	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	77					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.S77C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TGATGAATCCAGCAGCAGCAT	0.438																																							uc003hfy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|skin(1)	5						c.(229-231)AGC>TGC		solute carrier family 4, sodium bicarbonate							133.0	137.0	136.0					4																	72121092		1941	4132	6073	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72121092A>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.229A>T	4.37:g.72121092A>T	ENSP00000264485:p.Ser77Cys					SLC4A4_uc010iic.2_Missense_Mutation_p.S77C|SLC4A4_uc010iib.2_Missense_Mutation_p.S77C|SLC4A4_uc003hfz.2_Missense_Mutation_p.S77C|SLC4A4_uc003hga.2_5'UTR	p.S77C	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		3	346	+			77			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.229A>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.918446	0.52546	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898	T;T;T	0.79033	-1.23;-1.23;-0.86	5.7	4.5	0.54988	.	0.294887	0.46145	D	0.000304	T	0.79868	0.4520	L	0.53249	1.67	0.80722	D	1	P;D;P	0.58268	0.844;0.982;0.949	P;P;B	0.53593	0.501;0.73;0.405	T	0.79645	-0.1717	10	0.56958	D	0.05	.	10.8539	0.46786	0.9218:0.0:0.0782:0.0	.	77;77;77	A5JJ20;Q9Y6R1-4;Q9Y6R1	.;.;S4A4_HUMAN	C	77	ENSP00000264485:S77C;ENSP00000393557:S77C;ENSP00000307349:S77C	ENSP00000264485:S77C	S	+	1	0	SLC4A4	72339956	0.997000	0.39634	0.962000	0.40283	0.293000	0.27360	3.530000	0.53539	0.951000	0.37770	-0.417000	0.06048	AGC		0.438	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		15	122	0	0	0	0.003163	0	15	122				
NPFFR2	10886	broad.mit.edu	37	4	73012886	73012886	+	Missense_Mutation	SNP	G	G	A	rs548668915		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:73012886G>A	ENST00000308744.6	+	4	1024	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.R207Q|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.R210Q	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	309					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.R309Q(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TACTGGTGCCGGGAAGACTGG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20261	0.001		0.0	False		,,,				2504	0.0						uc003hgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(925-927)CGG>CAG		neuropeptide FF receptor 2 isoform 1							106.0	95.0	98.0					4																	73012886		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73012886G>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.926G>A	4.37:g.73012886G>A	ENSP00000307822:p.Arg309Gln					NPFFR2_uc010iig.1_Missense_Mutation_p.R91Q|NPFFR2_uc003hgi.2_Missense_Mutation_p.R210Q|NPFFR2_uc003hgh.2_Missense_Mutation_p.R207Q|NPFFR2_uc003hgj.2_RNA	p.R309Q	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1024	+			309			Extracellular (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.926G>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	9.934	1.215570	0.22373	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.37058	1.22;1.22;1.22	5.91	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.543150	0.16863	N	0.196442	T	0.31638	0.0803	L	0.49256	1.55	0.58432	D	0.999995	B;B	0.30033	0.092;0.266	B;B	0.26416	0.009;0.069	T	0.03157	-1.1066	10	0.25106	T	0.35	.	12.3832	0.55320	0.1374:0.0:0.8626:0.0	.	210;309	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	Q	309;210;207	ENSP00000307822:R309Q;ENSP00000379321:R210Q;ENSP00000351599:R207Q	ENSP00000307822:R309Q	R	+	2	0	NPFFR2	73231750	1.000000	0.71417	0.985000	0.45067	0.048000	0.14542	5.638000	0.67861	0.835000	0.34877	0.655000	0.94253	CGG		0.453	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		7	54	0	0	0	0.001984	0	7	54				
SDAD1	55153	broad.mit.edu	37	4	76885364	76885364	+	Splice_Site	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:76885364T>A	ENST00000356260.5	-	14	1223	c.1105A>T	c.(1105-1107)Att>Ttt	p.I369F	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Splice_Site_p.I332F	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	369					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)		p.I369F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATTGAATAATCTGAATTGGA	0.368																																							uc003hje.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1105-1107)ATT>TTT		SDA1 domain containing 1							100.0	94.0	96.0					4																	76885364		2203	4300	6503	SO:0001630	splice_region_variant	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76885364T>A	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1105-1A>T	4.37:g.76885364T>A						SDAD1_uc003hjf.3_Missense_Mutation_p.I272F|SDAD1_uc011cbr.1_Missense_Mutation_p.I332F	p.I369F	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		14	1224	-			369					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	c.1105A>T	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553435	0.45487	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.14640	2.49;2.49	5.14	3.96	0.45880	Armadillo-type fold (1);	0.047817	0.85682	D	0.000000	T	0.19005	0.0456	M	0.72894	2.215	0.80722	D	1	P;P	0.45902	0.783;0.868	P;P	0.47015	0.534;0.534	T	0.06409	-1.0828	10	0.16420	T	0.52	-11.8538	9.2605	0.37610	0.0:0.0854:0.0:0.9146	.	332;369	E7EW05;Q9NVU7	.;SDA1_HUMAN	F	369;332	ENSP00000348596:I369F;ENSP00000379061:I332F	ENSP00000348596:I369F	I	-	1	0	SDAD1	77104388	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	2.663000	0.46774	1.084000	0.41184	0.533000	0.62120	ATT		0.368	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115	Missense_Mutation	9	54	0	0	0	0.004482	0	9	54				
ART3	419	broad.mit.edu	37	4	77022153	77022153	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:77022153C>G	ENST00000355810.4	+	8	1037	c.918C>G	c.(916-918)aaC>aaG	p.N306K	ART3_ENST00000349321.3_Missense_Mutation_p.N306K|ART3_ENST00000341029.5_Missense_Mutation_p.N306K	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	306	3 X 10 AA tandem repeats of [GS]-E-K-N- [QW]-K-L-E-D-H.				protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N306K(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTGAGAAAAACCAGAAGCTTG	0.348																																							uc003hjo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(916-918)AAC>AAG		ADP-ribosyltransferase 3 isoform a							125.0	127.0	126.0					4																	77022153		2203	4300	6503	SO:0001583	missense	419				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr4:77022153C>G	X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.918C>G	4.37:g.77022153C>G	ENSP00000348064:p.Asn306Lys					ART3_uc003hjk.2_Missense_Mutation_p.N306K|ART3_uc003hjn.2_Missense_Mutation_p.N306K|ART3_uc003hjp.2_RNA|ART3_uc010ijb.2_RNA|ART3_uc003hjq.2_RNA|ART3_uc003hjr.2_Missense_Mutation_p.N276K|ART3_uc010ijc.2_Missense_Mutation_p.N265K|ART3_uc010ijd.2_Missense_Mutation_p.N276K	p.N306K	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		8	1037	+			306			3.|3 X 10 AA tandem repeats of [GS]-E-K-N- [QW]-K-L-E-D-H.		Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Missense_Mutation	SNP	ENST00000355810.4	37	c.918C>G	CCDS47079.1	.	.	.	.	.	.	.	.	.	.	C	0.150	-1.092236	0.01858	.	.	ENSG00000156219	ENST00000341029;ENST00000355810;ENST00000349321;ENST00000511188	T;T;T	0.08193	3.27;3.12;3.29	4.7	-2.23	0.06930	.	.	.	.	.	T	0.03827	0.0108	L	0.29908	0.895	0.09310	N	0.999998	B;P;B	0.36535	0.421;0.557;0.001	B;B;B	0.34242	0.086;0.178;0.002	T	0.33979	-0.9847	9	0.02654	T	1	.	3.6664	0.08257	0.2798:0.3005:0.0:0.4197	.	306;306;306	Q13508;Q13508-3;Q13508-2	NAR3_HUMAN;.;.	K	306;306;306;58	ENSP00000343843:N306K;ENSP00000348064:N306K;ENSP00000304313:N306K	ENSP00000343843:N306K	N	+	3	2	ART3	77241177	0.020000	0.18652	0.005000	0.12908	0.613000	0.37349	-1.046000	0.03525	-0.538000	0.06281	-0.889000	0.02933	AAC		0.348	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179		5	123	0	0	0	0.001984	0	5	123				
SOWAHB	345079	broad.mit.edu	37	4	77817765	77817765	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:77817765T>A	ENST00000334306.2	-	1	1237	c.1238A>T	c.(1237-1239)aAa>aTa	p.K413I		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	413								p.K413I(1)									CGGGGAGTCTTTGGGCCCACT	0.577																																							uc003hki.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1237-1239)AAA>ATA		ankyrin repeat domain 56							58.0	66.0	63.0					4																	77817765		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817765T>A		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1238A>T	4.37:g.77817765T>A	ENSP00000334879:p.Lys413Ile						p.K413I	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			1	1238	-			413					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1238A>T	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.252999	0.39797	.	.	ENSG00000186212	ENST00000334306	T	0.05717	3.4	5.05	-2.95	0.05564	.	0.179734	0.26352	U	0.024872	T	0.04907	0.0132	L	0.29908	0.895	0.09310	N	1	P	0.49961	0.93	B	0.41571	0.36	T	0.32771	-0.9894	10	0.51188	T	0.08	-1.5152	12.8732	0.57977	0.0:0.7018:0.0:0.2982	.	413	A6NEL2	ANR56_HUMAN	I	413	ENSP00000334879:K413I	ENSP00000334879:K413I	K	-	2	0	ANKRD56	78036789	0.000000	0.05858	0.670000	0.29842	0.002000	0.02628	-0.472000	0.06623	-0.394000	0.07727	-0.899000	0.02877	AAA		0.577	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		10	67	0	0	0	0.006214	0	10	67				
ENOPH1	58478	broad.mit.edu	37	4	83381180	83381180	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:83381180G>A	ENST00000273920.3	+	6	961	c.693G>A	c.(691-693)gtG>gtA	p.V231V	ENOPH1_ENST00000509635.1_Silent_p.V143V	NM_021204.3	NP_067027.1			enolase-phosphatase 1									p.V231V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						CTGTGGTGGTGAGACCAGGCA	0.473																																							uc003hmv.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(691-693)GTG>GTA		enolase-phosphatase 1							137.0	113.0	121.0					4																	83381180		2203	4300	6503	SO:0001819	synonymous_variant	58478				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	g.chr4:83381180G>A		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.693G>A	4.37:g.83381180G>A						ENOPH1_uc003hmw.2_Silent_p.V143V|ENOPH1_uc003hmx.2_Silent_p.V85V	p.V231V	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN			6	950	+			231						Silent	SNP	ENST00000273920.3	37	c.693G>A	CCDS3594.1																																																																																				0.473	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204		6	49	0	0	0	0.001168	0	6	49				
HPGDS	27306	broad.mit.edu	37	4	95239050	95239050	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:95239050A>T	ENST00000295256.5	-	3	290	c.200T>A	c.(199-201)aTa>aAa	p.I67K	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	67	GST N-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)	p.I67K(1)		breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	ATATCTTGCTATTGCTAGGCT	0.299																																					Colon(86;1802 1843 17863 46794)	Colon(86;1802 1843 17863 46794)	uc003hte.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(199-201)ATA>AAA		prostaglandin D2 synthase, hematopoietic	Glutathione(DB00143)						95.0	98.0	97.0					4																	95239050		2203	4300	6503	SO:0001583	missense	27306				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	g.chr4:95239050A>T	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.200T>A	4.37:g.95239050A>T	ENSP00000295256:p.Ile67Lys						p.I67K	NM_014485	NP_055300	O60760	HPGDS_HUMAN			3	291	-			67			GST N-terminal.		Q6FHT9	Missense_Mutation	SNP	ENST00000295256.5	37	c.200T>A	CCDS3640.1	.	.	.	.	.	.	.	.	.	.	A	19.12	3.766436	0.69878	.	.	ENSG00000163106	ENST00000295256	T	0.24723	1.84	5.48	5.48	0.80851	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.070853	0.56097	D	0.000022	T	0.67373	0.2886	H	0.98786	4.33	0.80722	D	1	D	0.67145	0.996	D	0.87578	0.998	T	0.79974	-0.1577	10	0.87932	D	0	.	11.961	0.53009	1.0:0.0:0.0:0.0	.	67	O60760	HPGDS_HUMAN	K	67	ENSP00000295256:I67K	ENSP00000295256:I67K	I	-	2	0	HPGDS	95458073	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	5.635000	0.67841	2.081000	0.62600	0.528000	0.53228	ATA		0.299	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485		5	51	0	0	0	0.001168	0	5	51				
LEF1	51176	broad.mit.edu	37	4	109086290	109086290	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:109086290C>G	ENST00000265165.1	-	2	897	c.243G>C	c.(241-243)gaG>gaC	p.E81D	LEF1_ENST00000512172.1_Missense_Mutation_p.E13D|LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000438313.2_Missense_Mutation_p.E81D|LEF1_ENST00000379951.2_Missense_Mutation_p.E81D|LEF1_ENST00000510624.1_Missense_Mutation_p.E13D	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	81	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E81D(1)|p.E13D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CGTGGTAGGGCTCCTGAGAGG	0.443																																							uc003hyt.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(241-243)GAG>GAC		lymphoid enhancer-binding factor 1 isoform 1							257.0	213.0	228.0					4																	109086290		2203	4300	6503	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109086290C>G		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.243G>C	4.37:g.109086290C>G	ENSP00000265165:p.Glu81Asp					LEF1_uc011cfj.1_5'UTR|LEF1_uc011cfk.1_Missense_Mutation_p.E13D|LEF1_uc003hyu.1_Missense_Mutation_p.E81D|LEF1_uc003hyv.1_Missense_Mutation_p.E81D|LEF1_uc010imb.1_RNA	p.E81D	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	2	898	-			81			Pro-rich.		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.243G>C	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	C	9.882	1.201778	0.22121	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624;ENST00000515500;ENST00000512172	D;D;D;D	0.99113	-5.41;-5.42;-5.43;-5.44	5.58	-0.294	0.12831	CTNNB1 binding, N-teminal (1);	0.096661	0.64402	N	0.000002	D	0.91425	0.7294	N	0.01705	-0.755	0.20638	N	0.999872	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.12837	0.001;0.001;0.002;0.008	D	0.87056	0.2150	10	0.20519	T	0.43	-28.7806	1.1107	0.01704	0.1335:0.3107:0.2336:0.3222	.	13;81;81;81	E9PDK3;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;LEF1_HUMAN	D	81;81;81;13;13;13	ENSP00000265165:E81D;ENSP00000369284:E81D;ENSP00000406176:E81D;ENSP00000422840:E13D	ENSP00000265165:E81D	E	-	3	2	LEF1	109305739	0.056000	0.20664	0.857000	0.33713	0.966000	0.64601	-0.343000	0.07791	0.050000	0.15949	0.563000	0.77884	GAG		0.443	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			6	90	0	0	0	0.001984	0	6	90				
LEF1	51176	broad.mit.edu	37	4	109088893	109088893	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:109088893C>T	ENST00000265165.1	-	1	685	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	LEF1_ENST00000512172.1_5'Flank|LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000438313.2_Missense_Mutation_p.G11S|LEF1_ENST00000379951.2_Missense_Mutation_p.G11S|LEF1_ENST00000510624.1_5'Flank	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	11	CTNNB1-binding. {ECO:0000250}.|Poly-Gly.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G11S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCCCCCCCGCCGCCGCCACCT	0.637																																							uc003hyt.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(31-33)GGC>AGC		lymphoid enhancer-binding factor 1 isoform 1							44.0	54.0	51.0					4																	109088893		2203	4295	6498	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109088893C>T		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.31G>A	4.37:g.109088893C>T	ENSP00000265165:p.Gly11Ser					LEF1_uc011cfj.1_5'Flank|LEF1_uc011cfk.1_5'Flank|LEF1_uc003hyu.1_Missense_Mutation_p.G11S|LEF1_uc003hyv.1_Missense_Mutation_p.G11S|LEF1_uc010imb.1_RNA	p.G11S	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	1	686	-			11			Poly-Gly.|CTNNB1-binding (By similarity).		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.31G>A	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718255	0.48622	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313	D;D;D	0.99287	-5.69;-5.65;-5.64	3.79	3.79	0.43588	CTNNB1 binding, N-teminal (1);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	L	0.47190	1.495	0.45777	D	0.998661	D;D;D	0.76494	0.988;0.987;0.999	P;P;P	0.60949	0.539;0.616;0.881	D	0.97201	0.9864	10	0.05525	T	0.97	.	6.1051	0.20069	0.2021:0.6961:0.0:0.1018	.	11;11;11	Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;LEF1_HUMAN	S	11	ENSP00000265165:G11S;ENSP00000369284:G11S;ENSP00000406176:G11S	ENSP00000265165:G11S	G	-	1	0	LEF1	109308342	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.363000	0.73082	1.657000	0.50732	0.491000	0.48974	GGC		0.637	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			11	112	0	0	0	0.000978	0	11	112				
COL25A1	84570	broad.mit.edu	37	4	109745371	109745371	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:109745371G>T	ENST00000399132.1	-	35	2334	c.1804C>A	c.(1804-1806)Cca>Aca	p.P602T	COL25A1_ENST00000399126.1_Missense_Mutation_p.P602T|COL25A1_ENST00000399127.1_Missense_Mutation_p.P605T	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.P602T(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCACCCCGTGGACCAGGGAAG	0.408																																							uc003hze.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1804-1806)CCA>ACA		collagen, type XXV, alpha 1 isoform 1							122.0	123.0	123.0					4																	109745371		1885	4116	6001	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109745371G>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1804C>A	4.37:g.109745371G>T	ENSP00000382083:p.Pro602Thr					COL25A1_uc003hzg.2_Missense_Mutation_p.P602T|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.P390T	p.P602T	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	34	2335	-		Hepatocellular(203;0.217)	602			Extracellular (Potential).|Collagen-like 7.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1804C>A	CCDS43258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.58|12.58	1.981866|1.981866	0.34942|0.34942	.|.	.|.	ENSG00000188517|ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000399127;ENST00000399126|ENST00000512961	D;D;D|.	0.96651|.	-4.08;-3.17;-4.08|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.321654|.	0.36101|.	N|.	0.002782|.	T|T	0.67859|0.67859	0.2938|0.2938	L|L	0.39397|0.39397	1.21|1.21	0.43304|0.43304	D|D	0.995307|0.995307	D;D|.	0.69078|.	0.996;0.997|.	D;D|.	0.68621|.	0.959;0.953|.	T|T	0.61023|0.61023	-0.7146|-0.7146	9|5	.|.	.|.	.|.	-4.7359|-4.7359	20.263|20.263	0.98456|0.98456	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	602;602|.	Q9BXS0-2;Q9BXS0|.	.;COPA1_HUMAN|.	T|Y	602;604;605;602|2	ENSP00000382083:P602T;ENSP00000382078:P605T;ENSP00000382077:P602T|.	.|.	P|S	-|-	1|2	0|0	COL25A1|COL25A1	109964820|109964820	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.760000|2.760000	0.47581|0.47581	2.788000|2.788000	0.95919|0.95919	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.408	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		5	55	1	0	2.0095e-06	0.001984	2.67637e-06	5	55				
GAR1	54433	broad.mit.edu	37	4	110743587	110743587	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:110743587G>T	ENST00000226796.6	+	5	778	c.514G>T	c.(514-516)Ggc>Tgc	p.G172C	GAR1_ENST00000394631.3_Missense_Mutation_p.G172C	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	172	RGG-box 2.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)	p.G172C(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						aagaggtggtggcaggggagg	0.493																																							uc003hzt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(514-516)GGC>TGC		nucleolar protein family A, member 1							29.0	29.0	29.0					4																	110743587		2203	4300	6503	SO:0001583	missense	54433				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding	g.chr4:110743587G>T	AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"""nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)"", ""GAR1 ribonucleoprotein homolog (yeast)"""	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.514G>T	4.37:g.110743587G>T	ENSP00000226796:p.Gly172Cys					GAR1_uc003hzu.2_Missense_Mutation_p.G172C|GAR1_uc010imi.2_Missense_Mutation_p.G172C	p.G172C	NM_018983	NP_061856	Q9NY12	GAR1_HUMAN			5	821	+			172			RGG-box 2.		Q5MJQ2	Missense_Mutation	SNP	ENST00000226796.6	37	c.514G>T	CCDS34050.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977492	0.53720	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	T;T	0.41065	1.01;1.01	5.33	4.47	0.54385	.	0.130337	0.51477	D	0.000085	T	0.53948	0.1828	L	0.60455	1.87	0.51767	D	0.999936	D;D	0.64830	0.992;0.994	P;P	0.61328	0.82;0.887	T	0.55927	-0.8063	10	0.72032	D	0.01	.	9.0939	0.36627	0.0781:0.149:0.7729:0.0	.	172;172	Q9NY12-2;Q9NY12	.;GAR1_HUMAN	C	172	ENSP00000378127:G172C;ENSP00000226796:G172C	ENSP00000226796:G172C	G	+	1	0	GAR1	110963036	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	5.095000	0.64529	1.200000	0.43188	0.650000	0.86243	GGC		0.493	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363810.2			6	46	1	0	3.59834e-05	0.001168	4.47562e-05	6	46				
EGF	1950	broad.mit.edu	37	4	110915979	110915979	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:110915979A>G	ENST00000265171.5	+	20	3393	c.2948A>G	c.(2947-2949)tAc>tGc	p.Y983C	EGF_ENST00000509793.1_Missense_Mutation_p.Y941C|EGF_ENST00000503392.1_Missense_Mutation_p.Y942C|RNU6-35P_ENST00000384530.1_RNA	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	983	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.Y983C(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CACGATGGGTACTGCCTCCAT	0.463																																							uc003hzy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2947-2949)TAC>TGC		epidermal growth factor precursor	Sulindac(DB00605)						174.0	140.0	151.0					4																	110915979		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110915979A>G	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2948A>G	4.37:g.110915979A>G	ENSP00000265171:p.Tyr983Cys					EGF_uc011cfu.1_Missense_Mutation_p.Y941C|EGF_uc011cfv.1_Missense_Mutation_p.Y942C|EGF_uc010imk.2_Missense_Mutation_p.Y131C	p.Y983C	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	20	3400	+		Hepatocellular(203;0.0893)	983			EGF-like 9.|Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.2948A>G	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.658615	0.47467	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.33438	1.41;1.41;1.41	5.35	4.12	0.48240	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	M	0.92738	3.34	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.65742	-0.6094	10	0.45353	T	0.12	.	9.575	0.39452	0.8446:0.0:0.0:0.1554	.	942;941;983	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	C	941;983;942	ENSP00000424316:Y941C;ENSP00000265171:Y983C;ENSP00000421384:Y942C	ENSP00000265171:Y983C	Y	+	2	0	EGF	111135428	1.000000	0.71417	0.995000	0.50966	0.253000	0.25986	3.260000	0.51523	2.019000	0.59389	0.533000	0.62120	TAC		0.463	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			10	65	0	0	0	0.000978	0	10	65				
FAT4	79633	broad.mit.edu	37	4	126373662	126373662	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:126373662G>T	ENST00000394329.3	+	9	11504	c.11491G>T	c.(11491-11493)Gag>Tag	p.E3831*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.E2129*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3831	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E3831*(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAAAAGCCGTGAGAGTCTTCC	0.488																																							uc003ifj.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(11491-11493)GAG>TAG		FAT tumor suppressor homolog 4 precursor							93.0	93.0	93.0					4																	126373662		2203	4300	6503	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373662G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11491G>T	4.37:g.126373662G>T	ENSP00000377862:p.Glu3831*					FAT4_uc011cgp.1_Nonsense_Mutation_p.E2129*|FAT4_uc003ifi.1_Nonsense_Mutation_p.E1309*	p.E3831*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	11491	+			3831			Extracellular (Potential).|EGF-like 1.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.11491G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	52	19.632043	0.99921	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.47	4.61	0.57282	.	0.000000	0.34676	U	0.003761	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	15.9754	0.80060	0.0:0.1351:0.8649:0.0	.	.	.	.	X	3831;2129	.	ENSP00000335169:E2129X	E	+	1	0	FAT4	126593112	1.000000	0.71417	0.594000	0.28785	0.518000	0.34316	9.461000	0.97646	1.252000	0.44001	0.561000	0.74099	GAG		0.488	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		6	42	1	0	2.0095e-06	0.001984	2.67637e-06	6	42				
PCDH10	57575	broad.mit.edu	37	4	134072243	134072244	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:134072243_134072244GG>TT	ENST00000264360.5	+	1	1774_1775	c.948_949GG>TT	c.(946-951)ttGGac>ttTTac	p.316_317LD>FY	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	316	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L316_D317>FY(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGGCGAGTTGGACTATGAAGA	0.619																																							uc003iha.2		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(2)	2						c.(946-951)TTGGAC>TTTTAC		protocadherin 10 isoform 1 precursor																																				SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072243_134072244GG>TT	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		Exception_encountered	4.37:g.134072243_134072244delinsTT	ENSP00000264360:p.L316_D317delinsFY					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.316_317LD>FY	p.316_317LD>FY	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1774_1775	+			316_317			Cadherin 3.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	DNP	ENST00000264360.5	37	c.948_949GG>TT	CCDS34063.1																																																																																				0.619	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		8	54	0	0	0	0.004672	0	8	54				
PCDH10	57575	broad.mit.edu	37	4	134084318	134084318	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:134084318G>T	ENST00000264360.5	+	4	3810	c.2984G>T	c.(2983-2985)gGg>gTg	p.G995V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	995					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G995V(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCCAGCCTGGGGCAGAGCGG	0.557																																							uc003iha.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2983-2985)GGG>GTG		protocadherin 10 isoform 1 precursor							111.0	114.0	113.0					4																	134084318		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084318G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2984G>T	4.37:g.134084318G>T	ENSP00000264360:p.Gly995Val						p.G995V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3810	+			995			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2984G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245714	0.39697	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.54279	0.58	5.24	3.49	0.39957	.	0.187094	0.25954	N	0.027221	T	0.34193	0.0889	N	0.14661	0.345	0.58432	D	0.999999	P	0.35077	0.483	B	0.30943	0.122	T	0.08126	-1.0737	10	0.31617	T	0.26	.	15.3132	0.74053	0.0:0.2658:0.7341:0.0	.	995	Q9P2E7	PCD10_HUMAN	V	995	ENSP00000264360:G995V	ENSP00000264360:G995V	G	+	2	0	PCDH10	134303768	1.000000	0.71417	0.600000	0.28864	0.954000	0.61252	2.526000	0.45607	0.750000	0.32877	-0.182000	0.12963	GGG		0.557	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		23	114	1	0	6.21321e-17	0.00278	1.01456e-16	23	114				
FGB	2244	broad.mit.edu	37	4	155487824	155487824	+	Splice_Site	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:155487824G>T	ENST00000302068.4	+	3	553	c.490G>T	c.(490-492)Gat>Tat	p.D164Y	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	164		Cleavage; by plasmin; to break down fibrin clots.			blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)	p.D164Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCAAGTAAAAGGTAGATATCC	0.408																																					NSCLC(106;1133 1613 21870 46110 52656)	NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(490-492)GAT>TAT		fibrinogen, beta chain preproprotein	Sucralfate(DB00364)						109.0	110.0	110.0					4																	155487824		2203	4300	6503	SO:0001630	splice_region_variant	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155487824G>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.490+1G>T	4.37:g.155487824G>T						FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.D161Y|FGB_uc010ipv.2_Missense_Mutation_p.D102Y|FGB_uc010ipw.2_Missense_Mutation_p.D161Y|FGB_uc003ioc.3_Intron	p.D164Y	NM_005141	NP_005132	P02675	FIBB_HUMAN			3	529	+	all_hematologic(180;0.215)	Renal(120;0.0458)	164			Potential.	Cleavage; by plasmin; to break down fibrin clots.	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.490G>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951292	0.73787	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	D	0.84070	-1.8	5.25	4.41	0.53225	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.416342	0.29508	N	0.011942	D	0.87853	0.6282	M	0.71581	2.175	0.80722	D	1	D;D	0.61697	0.987;0.99	P;P	0.59424	0.811;0.857	D	0.88537	0.3107	10	0.87932	D	0	.	11.0149	0.47682	0.0874:0.0:0.9126:0.0	.	147;164	B4E1D3;P02675	.;FIBB_HUMAN	Y	164;147	ENSP00000306099:D164Y	ENSP00000306099:D164Y	D	+	1	0	FGB	155707274	1.000000	0.71417	0.913000	0.36048	0.950000	0.60333	3.712000	0.54875	1.353000	0.45828	0.557000	0.71058	GAT		0.408	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141	Missense_Mutation	13	72	1	0	9.31168e-06	0.001855	1.21334e-05	13	72				
NAF1	92345	broad.mit.edu	37	4	164061457	164061457	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:164061457C>T	ENST00000274054.2	-	5	989	c.796G>A	c.(796-798)Ggt>Agt	p.G266S	NAF1_ENST00000422287.2_Missense_Mutation_p.G266S|NAF1_ENST00000509434.1_5'UTR	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	266					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G266S(2)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTTTAATACCTTTACTCTCA	0.318																																							uc003iqj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(796-798)GGT>AGT		nuclear assembly factor 1 homolog isoform a							84.0	92.0	89.0					4																	164061457		2203	4293	6496	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164061457C>T		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.796G>A	4.37:g.164061457C>T	ENSP00000274054:p.Gly266Ser					NAF1_uc010iqw.1_Missense_Mutation_p.G266S	p.G266S	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			5	990	-	all_hematologic(180;0.166)	Prostate(90;0.109)	266					D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.796G>A	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017391	0.54576	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	T;T	0.37058	1.27;1.22	5.68	3.97	0.46021	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.354457	0.32134	N	0.006537	T	0.36138	0.0956	M	0.70595	2.14	0.41084	D	0.985547	B;B	0.31413	0.322;0.079	B;B	0.30029	0.11;0.031	T	0.11665	-1.0578	10	0.27785	T	0.31	-15.3453	11.7409	0.51792	0.0:0.8574:0.0:0.1426	.	266;266	E9PAZ2;Q96HR8	.;NAF1_HUMAN	S	266	ENSP00000408963:G266S;ENSP00000274054:G266S	ENSP00000274054:G266S	G	-	1	0	NAF1	164280907	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.473000	0.45145	0.775000	0.33450	-0.140000	0.14226	GGT		0.318	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		7	56	0	0	0	0.00308	0	7	56				
TLL1	7092	broad.mit.edu	37	4	166964506	166964506	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:166964506G>C	ENST00000061240.2	+	12	2106	c.1459G>C	c.(1459-1461)Gaa>Caa	p.E487Q	TLL1_ENST00000507499.1_Missense_Mutation_p.E487Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	487	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E487Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCCGATGAAAGAATGTGTGTG	0.423																																							uc003irh.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1459-1461)GAA>CAA		tolloid-like 1 precursor							186.0	169.0	175.0					4																	166964506		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166964506G>C	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1459G>C	4.37:g.166964506G>C	ENSP00000061240:p.Glu487Gln					TLL1_uc011cjn.1_Missense_Mutation_p.E487Q|TLL1_uc011cjo.1_Missense_Mutation_p.E311Q	p.E487Q	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	12	2106	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	487			CUB 2.		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.1459G>C	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420693	0.62622	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.18960	2.18;2.18	5.58	5.58	0.84498	CUB (5);	0.000000	0.85682	U	0.000000	T	0.46288	0.1385	M	0.72894	2.215	0.80722	D	1	D;D	0.67145	0.996;0.993	P;D	0.63877	0.901;0.919	T	0.28870	-1.0030	10	0.46703	T	0.11	.	19.5831	0.95478	0.0:0.0:1.0:0.0	.	487;487	E9PD25;O43897	.;TLL1_HUMAN	Q	487	ENSP00000061240:E487Q;ENSP00000426082:E487Q	ENSP00000061240:E487Q	E	+	1	0	TLL1	167183956	1.000000	0.71417	0.988000	0.46212	0.132000	0.20833	9.813000	0.99286	2.641000	0.89580	0.563000	0.77884	GAA		0.423	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			17	161	0	0	0	0.004007	0	17	161				
TLL1	7092	broad.mit.edu	37	4	167020572	167020572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr4:167020572C>T	ENST00000061240.2	+	20	3447	c.2800C>T	c.(2800-2802)Cag>Tag	p.Q934*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.Q957*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	934	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q934*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTATCCTTCCAGACATTTGA	0.468																																							uc003irh.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2800-2802)CAG>TAG		tolloid-like 1 precursor							201.0	193.0	195.0					4																	167020572		2203	4300	6503	SO:0001587	stop_gained	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:167020572C>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2800C>T	4.37:g.167020572C>T	ENSP00000061240:p.Gln934*					TLL1_uc011cjn.1_Nonsense_Mutation_p.Q957*|TLL1_uc011cjo.1_Nonsense_Mutation_p.Q758*	p.Q934*	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	20	3447	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	934			CUB 5.		B2RMU2|Q96AN3|Q9NQS4	Nonsense_Mutation	SNP	ENST00000061240.2	37	c.2800C>T	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	C	43	9.855743	0.99280	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	.	.	.	5.76	5.76	0.90799	.	0.244954	0.36101	U	0.002796	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	.	.	.	X	934;957	.	ENSP00000061240:Q934X	Q	+	1	0	TLL1	167240022	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	3.852000	0.55934	2.726000	0.93360	0.655000	0.94253	CAG		0.468	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			8	172	0	0	0	0.004482	0	8	172				
PLEKHG4B	153478	broad.mit.edu	37	5	162943	162943	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:162943C>T	ENST00000283426.6	+	11	1738	c.1688C>T	c.(1687-1689)gCc>gTc	p.A563V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	563							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A563V(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCTGCAGAGGCCTTCCCCGGG	0.662																																							uc003jak.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1687-1689)GCC>GTC		pleckstrin homology domain containing, family G							25.0	27.0	26.0					5																	162943		2187	4286	6473	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:162943C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1688C>T	5.37:g.162943C>T	ENSP00000283426:p.Ala563Val						p.A563V	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	1738	+			563						Missense_Mutation	SNP	ENST00000283426.6	37	c.1688C>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322758	0.41096	.	.	ENSG00000153404	ENST00000283426	D	0.92858	-3.12	2.54	-0.285	0.12866	.	.	.	.	.	D	0.83362	0.5238	L	0.36672	1.1	0.22819	N	0.998694	P	0.42827	0.791	B	0.38056	0.264	T	0.73279	-0.4033	9	0.30854	T	0.27	.	2.935	0.05811	0.3538:0.3873:0.2588:0.0	.	563	Q96PX9	PKH4B_HUMAN	V	563	ENSP00000283426:A563V	ENSP00000283426:A563V	A	+	2	0	PLEKHG4B	215943	0.909000	0.30893	0.005000	0.12908	0.449000	0.32228	2.371000	0.44248	0.030000	0.15379	0.467000	0.42956	GCC		0.662	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		3	3	0	0	0	0.004672	0	3	3				
NSUN2	54888	broad.mit.edu	37	5	6620270	6620271	+	Missense_Mutation	DNP	CC	CC	AA	rs140003855|rs375926964	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:6620270_6620271CC>AA	ENST00000264670.6	-	7	1074_1075	c.763_764GG>TT	c.(763-765)GGc>TTc	p.G255F	NSUN2_ENST00000506139.1_Missense_Mutation_p.G220F|NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000539938.1_Missense_Mutation_p.G19F	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	255					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.G255F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CTCTTTCCTGCCGTCCACATCT	0.475																																							uc003jdu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(763-765)GGC>TTC		NOL1/NOP2/Sun domain family, member 2																																				SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6620270_6620271CC>AA	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.763_764delinsAA	5.37:g.6620270_6620271delinsAA	ENSP00000264670:p.Gly255Phe					NSUN2_uc003jdt.2_Missense_Mutation_p.G19F|NSUN2_uc011cmk.1_Missense_Mutation_p.G220F|NSUN2_uc003jdv.2_Missense_Mutation_p.G19F	p.G255F	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			7	828_829	-			255					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	DNP	ENST00000264670.6	37	c.763_764GG>TT	CCDS3869.1																																																																																				0.475	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		10	78	0	0	0	0.004672	0	10	78				
MARCH11	441061	broad.mit.edu	37	5	16067691	16067691	+	Missense_Mutation	SNP	C	C	G	rs373564376		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:16067691C>G	ENST00000332432.8	-	4	1297	c.1098G>C	c.(1096-1098)agG>agC	p.R366S		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	366					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R366S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CACACTGAAACCTTGGTGAGG	0.502																																							uc003jfo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1096-1098)AGG>AGC		membrane-associated ring finger (C3HC4) 11							162.0	158.0	159.0					5																	16067691		1947	4136	6083	SO:0001583	missense	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16067691C>G	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.1098G>C	5.37:g.16067691C>G	ENSP00000333181:p.Arg366Ser					MARCH11_uc010itw.1_Missense_Mutation_p.R122S	p.R366S	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN			4	1311	-			366					A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	c.1098G>C	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	C	9.512	1.105985	0.20632	.	.	ENSG00000183654	ENST00000332432	T	0.17691	2.26	5.44	3.27	0.37495	.	0.441327	0.23137	N	0.051517	T	0.06462	0.0166	N	0.08118	0	0.50171	D	0.999856	B	0.22414	0.069	B	0.19148	0.024	T	0.25257	-1.0137	10	0.12766	T	0.61	-18.7394	4.5868	0.12285	0.0:0.5679:0.0:0.4321	.	366	A6NNE9	MARHB_HUMAN	S	366	ENSP00000333181:R366S	ENSP00000333181:R366S	R	-	3	2	MARCH11	16120691	0.980000	0.34600	0.996000	0.52242	0.142000	0.21351	0.326000	0.19646	1.417000	0.47077	0.655000	0.94253	AGG		0.502	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		34	124	0	0	0	0.003755	0	34	124				
CDH18	1016	broad.mit.edu	37	5	19473707	19473707	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:19473707G>T	ENST00000507958.1	-	15	2991	c.2001C>A	c.(1999-2001)gaC>gaA	p.D667E	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.D667E|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.D667E			Q13634	CAD18_HUMAN	cadherin 18, type 2	667					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D667E(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGGCCTCTGTGTCTTCCTCTC	0.522																																							uc003jgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1999-2001)GAC>GAA		cadherin 18, type 2 preproprotein							153.0	149.0	150.0					5																	19473707		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473707G>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2001C>A	5.37:g.19473707G>T	ENSP00000425093:p.Asp667Glu					CDH18_uc003jgd.2_Missense_Mutation_p.D667E|CDH18_uc011cnm.1_3'UTR	p.D667E	NM_004934	NP_004925	Q13634	CAD18_HUMAN			12	2378	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		667			Cytoplasmic (Potential).		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.2001C>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550271	0.86127	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	D;D;D	0.85773	-2.03;-2.03;-2.03	6.16	5.29	0.74685	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.94483	0.8224	H	0.95328	3.655	0.52501	D	0.999952	D	0.89917	1.0	D	0.97110	1.0	D	0.95277	0.8382	9	.	.	.	.	14.7511	0.69528	0.0708:0.0:0.9292:0.0	.	667	Q13634	CAD18_HUMAN	E	667	ENSP00000371710:D667E;ENSP00000425093:D667E;ENSP00000274170:D667E	.	D	-	3	2	CDH18	19509464	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.150000	0.58098	2.937000	0.99478	0.650000	0.86243	GAC		0.522	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		36	165	1	0	4.90274e-10	0.00623	7.32976e-10	36	165				
CDH18	1016	broad.mit.edu	37	5	19838999	19838999	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:19838999C>A	ENST00000507958.1	-	5	1087	c.97G>T	c.(97-99)Gtg>Ttg	p.V33L	CDH18_ENST00000511273.1_Missense_Mutation_p.V33L|CDH18_ENST00000502796.1_Missense_Mutation_p.V33L|CDH18_ENST00000382275.1_Missense_Mutation_p.V33L|CDH18_ENST00000506372.1_Missense_Mutation_p.V33L|CDH18_ENST00000274170.4_Missense_Mutation_p.V33L			Q13634	CAD18_HUMAN	cadherin 18, type 2	33					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V33L(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTTCTCATCACCTTGATGGAG	0.428																																							uc003jgc.2		NA																	2	Substitution - Missense(2)	p.V33V(1)	lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(97-99)GTG>TTG		cadherin 18, type 2 preproprotein							212.0	176.0	188.0					5																	19838999		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19838999C>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.97G>T	5.37:g.19838999C>A	ENSP00000425093:p.Val33Leu					CDH18_uc003jgd.2_Missense_Mutation_p.V33L|CDH18_uc011cnm.1_Missense_Mutation_p.V33L	p.V33L	NM_004934	NP_004925	Q13634	CAD18_HUMAN			2	474	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		33					A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.97G>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908151	0.33721	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	5.93	5.93	0.95920	.	0.460386	0.24871	N	0.034937	T	0.21674	0.0522	N	0.14661	0.345	0.45477	D	0.998446	B;B	0.16603	0.005;0.018	B;B	0.18263	0.021;0.021	T	0.08106	-1.0738	9	.	.	.	.	18.9006	0.92440	0.0:1.0:0.0:0.0	.	33;33	B4DHG6;Q13634	.;CAD18_HUMAN	L	33	ENSP00000371710:V33L;ENSP00000425093:V33L;ENSP00000274170:V33L;ENSP00000424931:V33L;ENSP00000422138:V33L;ENSP00000425854:V33L	.	V	-	1	0	CDH18	19874756	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.452000	0.80683	2.805000	0.96524	0.655000	0.94253	GTG		0.428	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		10	67	1	0	3.86212e-05	0.008291	4.77085e-05	10	67				
CDH9	1007	broad.mit.edu	37	5	26906161	26906161	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:26906161C>T	ENST00000231021.4	-	5	890	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D240N(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCACCCATGTCTTTGGCCTGT	0.448																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(718-720)GAC>AAC		cadherin 9, type 2 preproprotein							232.0	208.0	216.0					5																	26906161		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26906161C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.718G>A	5.37:g.26906161C>T	ENSP00000231021:p.Asp240Asn					CDH9_uc010iug.2_Missense_Mutation_p.D240N	p.D240N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			5	887	-			240			Extracellular (Potential).|Cadherin 2.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.718G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553655	0.96501	.	.	ENSG00000113100	ENST00000231021	T	0.79940	-1.32	5.6	5.6	0.85130	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92548	0.7633	M	0.93939	3.475	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.93866	0.7158	9	.	.	.	.	18.5289	0.90984	0.0:1.0:0.0:0.0	.	240	Q9ULB4	CADH9_HUMAN	N	240	ENSP00000231021:D240N	.	D	-	1	0	CDH9	26941918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	2.802000	0.96397	0.650000	0.86243	GAC		0.448	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		16	121	0	0	0	0.003163	0	16	121				
CDH6	1004	broad.mit.edu	37	5	31294201	31294201	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:31294201A>G	ENST00000265071.2	+	3	626	c.361A>G	c.(361-363)Aaa>Gaa	p.K121E	CDH6_ENST00000514738.1_Missense_Mutation_p.K66E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K121E(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGGGAAGAAAAACCCGTTTA	0.448																																							uc003jhe.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.(361-363)AAA>GAA		cadherin 6, type 2 preproprotein							115.0	115.0	115.0					5																	31294201		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31294201A>G	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.361A>G	5.37:g.31294201A>G	ENSP00000265071:p.Lys121Glu					CDH6_uc003jhd.1_Missense_Mutation_p.K121E	p.K121E	NM_004932	NP_004923	P55285	CADH6_HUMAN			3	687	+			121			Extracellular (Potential).|Cadherin 1.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.361A>G	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	A	31	5.088423	0.94100	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.51325	0.71;0.71	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	M	0.87547	2.89	0.58432	D	0.999996	D;D	0.89917	0.994;1.0	D;D	0.91635	0.97;0.999	T	0.78755	-0.2080	10	0.87932	D	0	.	16.3948	0.83586	1.0:0.0:0.0:0.0	.	121;121	P55285;P55285-2	CADH6_HUMAN;.	E	66;121	ENSP00000424843:K66E;ENSP00000265071:K121E	ENSP00000265071:K121E	K	+	1	0	CDH6	31329958	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.910000	0.92685	2.326000	0.78906	0.533000	0.62120	AAA		0.448	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		24	106	0	0	0	0.002299	0	24	106				
GOLPH3	64083	broad.mit.edu	37	5	32126342	32126342	+	Silent	SNP	C	C	G	rs147714399		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:32126342C>G	ENST00000265070.6	-	4	1188	c.873G>C	c.(871-873)gcG>gcC	p.A291A	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	291					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.A291A(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CCGCCACCACCGCCCACAGAA	0.498																																							uc003jhp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(871-873)GCG>GCC		golgi phosphoprotein 3							114.0	111.0	112.0					5																	32126342		2203	4300	6503	SO:0001819	synonymous_variant	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126342C>G	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.873G>C	5.37:g.32126342C>G							p.A291A	NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN			4	1158	-			291					Q9UIW5	Silent	SNP	ENST00000265070.6	37	c.873G>C	CCDS3896.1																																																																																				0.498	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		31	130	0	0	0	0.002445	0	31	130				
ADAMTS12	81792	broad.mit.edu	37	5	33577099	33577099	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:33577099G>T	ENST00000504830.1	-	19	3367	c.3032C>A	c.(3031-3033)tCc>tAc	p.S1011Y	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S926Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1011	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S1011Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTTTCCATTGGAAATAGTGCC	0.537										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3031-3033)TCC>TAC		ADAM metallopeptidase with thrombospondin type 1							157.0	152.0	153.0					5																	33577099		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33577099G>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.3032C>A	5.37:g.33577099G>T	ENSP00000422554:p.Ser1011Tyr	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.S926Y	p.S1011Y	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3195	-			1011			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3032C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.541020	0.00142	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59364	0.27;0.27	5.3	-3.01	0.05463	.	0.854162	0.11084	N	0.601579	T	0.35624	0.0938	N	0.19112	0.55	0.09310	N	0.999996	B;B	0.22346	0.002;0.068	B;B	0.16289	0.006;0.015	T	0.11717	-1.0576	10	0.44086	T	0.13	.	7.2965	0.26395	0.5599:0.0:0.304:0.1361	.	926;1011	P58397-3;P58397	.;ATS12_HUMAN	Y	1011;926	ENSP00000422554:S1011Y;ENSP00000344847:S926Y	ENSP00000344847:S926Y	S	-	2	0	ADAMTS12	33612856	0.004000	0.15560	0.000000	0.03702	0.009000	0.06853	0.054000	0.14205	-0.914000	0.03827	-0.137000	0.14449	TCC		0.537	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		24	125	1	0	3.7963e-18	0.00333	6.25559e-18	24	125				
ADAMTS12	81792	broad.mit.edu	37	5	33642030	33642030	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:33642030C>A	ENST00000504830.1	-	11	1938	c.1603G>T	c.(1603-1605)Ggg>Tgg	p.G535W	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G535W	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	535	Disintegrin.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G535W(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGTTTCTTCCCCACTGTGATG	0.597										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1603-1605)GGG>TGG		ADAM metallopeptidase with thrombospondin type 1							61.0	51.0	54.0					5																	33642030		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33642030C>A	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.1603G>T	5.37:g.33642030C>A	ENSP00000422554:p.Gly535Trp	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.G535W	p.G535W	NM_030955	NP_112217	P58397	ATS12_HUMAN			11	1766	-			535			Disintegrin.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1603G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040166	0.93630	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.61980	0.06;0.08	5.93	5.93	0.95920	.	0.047828	0.85682	D	0.000000	D	0.83667	0.5304	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.84861	0.0819	10	0.59425	D	0.04	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	535;535	P58397-3;P58397	.;ATS12_HUMAN	W	535	ENSP00000422554:G535W;ENSP00000344847:G535W	ENSP00000344847:G535W	G	-	1	0	ADAMTS12	33677787	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.818000	0.86416	2.821000	0.97095	0.555000	0.69702	GGG		0.597	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		3	29	1	0	6.4e-05	0.004672	7.8539e-05	3	29				
SLC45A2	51151	broad.mit.edu	37	5	33947355	33947355	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:33947355C>A	ENST00000296589.4	-	6	1427	c.1281G>T	c.(1279-1281)ctG>ctT	p.L427L	SLC45A2_ENST00000382102.3_Silent_p.L427L|SLC45A2_ENST00000342059.3_Silent_p.L368L	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	427					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.L427L(1)		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						ACAGGCTGCACAGGACCAGGG	0.498																																					Ovarian(31;380 859 8490 22203 49048)	Ovarian(31;380 859 8490 22203 49048)	uc003jid.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1279-1281)CTG>CTT		membrane-associated transporter protein isoform							180.0	179.0	179.0					5																	33947355		2203	4300	6503	SO:0001819	synonymous_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33947355C>A	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.1281G>T	5.37:g.33947355C>A						SLC45A2_uc003jie.2_Silent_p.L427L	p.L427L	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			6	1373	-			427			Helical; Name=10; (Potential).		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.1281G>T	CCDS3901.1																																																																																				0.498	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		26	157	1	0	9.57634e-11	0.00333	1.44848e-10	26	157				
UGT3A2	167127	broad.mit.edu	37	5	36052050	36052050	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:36052050C>A	ENST00000282507.3	-	3	334	c.233G>T	c.(232-234)aGt>aTt	p.S78I	UGT3A2_ENST00000504954.1_5'UTR|UGT3A2_ENST00000513300.1_Missense_Mutation_p.S44I|UGT3A2_ENST00000545528.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	78					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.S78I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCAAGCCAACTGATAACTTG	0.294																																							uc003jjz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(232-234)AGT>ATT		UDP glycosyltransferase 3 family, polypeptide A2							47.0	51.0	50.0					5																	36052050		2202	4297	6499	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36052050C>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.233G>T	5.37:g.36052050C>A	ENSP00000282507:p.Ser78Ile					UGT3A2_uc011cos.1_Missense_Mutation_p.S44I|UGT3A2_uc011cot.1_5'UTR	p.S78I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	326	-	all_lung(31;0.000179)		78			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.233G>T	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421112	0.25639	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000515131	T;T;T	0.61274	0.14;0.12;1.48	3.09	-5.35	0.02697	.	4.523500	0.02445	U	0.084940	T	0.31327	0.0793	N	0.05351	-0.065	0.09310	N	0.999998	B;P	0.36874	0.06;0.572	B;B	0.31614	0.033;0.133	T	0.20974	-1.0259	10	0.33141	T	0.24	.	7.2829	0.26322	0.0:0.1439:0.4755:0.3806	.	44;78	E9PFK7;Q3SY77	.;UD3A2_HUMAN	I	78;44;78	ENSP00000282507:S78I;ENSP00000427404:S44I;ENSP00000420865:S78I	ENSP00000282507:S78I	S	-	2	0	UGT3A2	36087807	0.000000	0.05858	0.000000	0.03702	0.510000	0.34073	-2.436000	0.01019	-1.309000	0.02315	0.655000	0.94253	AGT		0.294	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		4	50	1	0	0.000602214	0.000602	0.000690978	4	50				
RICTOR	253260	broad.mit.edu	37	5	39074222	39074222	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:39074222G>C	ENST00000357387.3	-	2	118	c.88C>G	c.(88-90)Ctg>Gtg	p.L30V	RICTOR_ENST00000296782.5_Missense_Mutation_p.L30V	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.L30V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CCTCGGGTCAGATCCAGCGGG	0.741																																							uc003jlp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(88-90)CTG>GTG		rapamycin-insensitive companion of mTOR							19.0	21.0	21.0					5																	39074222		2200	4293	6493	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:39074222G>C		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.88C>G	5.37:g.39074222G>C	ENSP00000349959:p.Leu30Val					RICTOR_uc003jlo.2_Missense_Mutation_p.L30V|RICTOR_uc010ivf.2_Translation_Start_Site|RICTOR_uc003jlq.1_Intron|RICTOR_uc011cpk.1_Missense_Mutation_p.L30V	p.L30V	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			2	112	-	all_lung(31;0.000396)		30						Missense_Mutation	SNP	ENST00000357387.3	37	c.88C>G	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715766	0.48622	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.47869	0.83;0.83	4.15	2.36	0.29203	.	0.235782	0.36066	N	0.002803	T	0.37210	0.0995	L	0.38838	1.175	0.40695	D	0.982434	B;P;B	0.42518	0.018;0.782;0.143	B;B;B	0.41764	0.031;0.366;0.051	T	0.22208	-1.0223	10	0.87932	D	0	-0.665	8.1668	0.31230	0.1903:0.0:0.8097:0.0	.	30;30;30	Q8N6M7;Q6R327;Q6R327-3	.;RICTR_HUMAN;.	V	30	ENSP00000349959:L30V;ENSP00000296782:L30V	ENSP00000296782:L30V	L	-	1	2	RICTOR	39109979	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.210000	0.65214	0.404000	0.25506	0.563000	0.77884	CTG		0.741	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		9	13	0	0	0	0.008291	0	9	13				
C9	735	broad.mit.edu	37	5	39315949	39315949	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:39315949G>T	ENST00000263408.4	-	6	893	c.798C>A	c.(796-798)ggC>ggA	p.G266G	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	266	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.	Cleavage; by thrombin.			complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)		p.G266G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AACTACCCTTGCCATGTAAAG	0.313																																							uc003jlv.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(796-798)GGC>GGA		complement component 9 precursor							100.0	100.0	100.0					5																	39315949		2203	4300	6503	SO:0001819	synonymous_variant	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39315949G>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.798C>A	5.37:g.39315949G>T							p.G266G	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		6	887	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	266			MACPF.	Cleavage; by thrombin.		Silent	SNP	ENST00000263408.4	37	c.798C>A	CCDS3929.1																																																																																				0.313	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			18	73	1	0	4.75885e-15	0.00499	7.71497e-15	18	73				
PTGER4	5734	broad.mit.edu	37	5	40692421	40692421	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:40692421A>G	ENST00000302472.3	+	3	2432	c.1408A>G	c.(1408-1410)Agc>Ggc	p.S470G		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	470					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)	p.S470G(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	CCCTAAGGGGAGCTCCCTGCA	0.493																																							uc003jlz.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(1408-1410)AGC>GGC		prostaglandin E receptor 4, subtype EP4							34.0	37.0	36.0					5																	40692421		2203	4300	6503	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40692421A>G	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.1408A>G	5.37:g.40692421A>G	ENSP00000302846:p.Ser470Gly						p.S470G	NM_000958	NP_000949	P35408	PE2R4_HUMAN			3	2000	+			470			Cytoplasmic (Potential).		Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.1408A>G	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	A	9.243	1.038898	0.19669	.	.	ENSG00000171522	ENST00000302472	T	0.51817	0.69	5.81	1.96	0.26148	.	0.458544	0.25804	N	0.028185	T	0.25044	0.0608	N	0.16478	0.41	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.13282	-1.0515	10	0.15952	T	0.53	-18.7541	7.0341	0.24983	0.68:0.1243:0.1956:0.0	.	470	P35408	PE2R4_HUMAN	G	470	ENSP00000302846:S470G	ENSP00000302846:S470G	S	+	1	0	PTGER4	40728178	0.940000	0.31905	0.994000	0.49952	0.791000	0.44710	3.079000	0.50104	1.035000	0.39972	-0.250000	0.11733	AGC		0.493	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		8	42	0	0	0	0.000978	0	8	42				
SKIV2L2	23517	broad.mit.edu	37	5	54640386	54640386	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:54640386C>G	ENST00000230640.5	+	9	1197	c.943C>G	c.(943-945)Cca>Gca	p.P315A	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.P214A	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	315					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.P315A(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TCGGCCCACTCCATTGCAACA	0.338																																					Melanoma(2;92 134 23744 29976 33782)	Melanoma(2;92 134 23744 29976 33782)	uc003jpy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(943-945)CCA>GCA		superkiller viralicidic activity 2-like 2							75.0	70.0	72.0					5																	54640386		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54640386C>G	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.943C>G	5.37:g.54640386C>G	ENSP00000230640:p.Pro315Ala					SKIV2L2_uc011cqi.1_Missense_Mutation_p.P214A	p.P315A	NM_015360	NP_056175	P42285	SK2L2_HUMAN			9	1209	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	315					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.943C>G	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039516	0.93630	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.50277	0.75;0.82	5.98	5.98	0.97165	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.81541	0.4844	H	0.97516	4.02	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.968;0.991	D	0.87111	0.2185	10	0.87932	D	0	-6.1399	20.4366	0.99092	0.0:1.0:0.0:0.0	.	214;315	F5H7E2;P42285	.;SK2L2_HUMAN	A	315;214	ENSP00000230640:P315A;ENSP00000442583:P214A	ENSP00000230640:P315A	P	+	1	0	SKIV2L2	54676143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.843000	0.97960	0.585000	0.79938	CCA		0.338	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			6	37	0	0	0	0.001984	0	6	37				
IPO11	51194	broad.mit.edu	37	5	61923142	61923142	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:61923142C>T	ENST00000325324.6	+	30	3094	c.2925C>T	c.(2923-2925)ttC>ttT	p.F975F	IPO11_ENST00000409296.3_Silent_p.F1015F|IPO11_ENST00000512177.1_3'UTR|IPO11_ENST00000409534.1_Silent_p.F94F	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	975					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.F975F(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TGCAAGGATTCTAAGAGCACA	0.493																																							uc003jtc.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)	4						c.(2923-2925)TTC>TTT		Ran binding protein 11 isoform 2							114.0	119.0	118.0					5																	61923142		2203	4300	6503	SO:0001819	synonymous_variant	51194					cytoplasm|nucleus	protein binding	g.chr5:61923142C>T	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.2925C>T	5.37:g.61923142C>T						IPO11_uc011cqr.1_Silent_p.F1015F|IPO11_uc010iwr.2_3'UTR|IPO11_uc003jte.2_Silent_p.F94F	p.F975F	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	30	3115	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	975					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Silent	SNP	ENST00000325324.6	37	c.2925C>T	CCDS34167.1																																																																																				0.493	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		4	62	0	0	0	0.009096	0	4	62				
HTR1A	3350	broad.mit.edu	37	5	63256905	63256905	+	Silent	SNP	G	G	C	rs374689000		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:63256905G>C	ENST00000323865.3	-	1	875	c.642C>G	c.(640-642)ctC>ctG	p.L214L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	214					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.L214L(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGCGCCCATAGAGAACCAGCA	0.582																																							uc011cqt.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(640-642)CTC>CTG		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						98.0	110.0	106.0					5																	63256905		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256905G>C	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.642C>G	5.37:g.63256905G>C							p.L214L	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	642	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	214			Helical; Name=5; (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.642C>G	CCDS34168.1																																																																																				0.582	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		17	138	0	0	0	0.00499	0	17	138				
ADAMTS6	11174	broad.mit.edu	37	5	64748563	64748563	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:64748563C>G	ENST00000536360.1	-	5	1627	c.814G>C	c.(814-816)Gaa>Caa	p.E272Q				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	272	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E272Q(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		ATGTAATGTTCAATGTCTTTG	0.368																																							uc003jtp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(814-816)GAA>CAA		ADAM metallopeptidase with thrombospondin type 1							148.0	134.0	138.0					5																	64748563		2203	4300	6503	SO:0001583	missense	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64748563C>G	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.814G>C	5.37:g.64748563C>G	ENSP00000440995:p.Glu272Gln					ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_5'UTR	p.E272Q	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	5	1628	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	272			Peptidase M12B.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000536360.1	37	c.814G>C		.	.	.	.	.	.	.	.	.	.	C	21.3	4.124981	0.77436	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.63417	-0.04;-0.04;-0.04	5.38	5.38	0.77491	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.66723	0.2818	L	0.28504	0.86	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.58725	-0.7586	10	0.05351	T	0.99	.	19.1332	0.93415	0.0:1.0:0.0:0.0	.	272	Q9UKP5	ATS6_HUMAN	Q	272	ENSP00000370443:E272Q;ENSP00000423551:E272Q;ENSP00000440995:E272Q	ENSP00000261306:E272Q	E	-	1	0	ADAMTS6	64784319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.502000	0.84385	0.563000	0.77884	GAA		0.368	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		5	70	0	0	0	0.001168	0	5	70				
MAST4	375449	broad.mit.edu	37	5	66055638	66055638	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:66055638G>C	ENST00000403625.2	+	2	760	c.465G>C	c.(463-465)ctG>ctC	p.L155L	MAST4_ENST00000404260.3_Silent_p.L155L|MAST4_ENST00000478569.1_3'UTR|MAST4_ENST00000406374.1_Silent_p.L155L|MAST4_ENST00000406039.1_Silent_p.L155L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	155						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.L155L(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AAAGACAGCTGAGTGAGGATG	0.512																																							uc003jur.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(463-465)CTG>CTC		microtubule associated serine/threonine kinase							77.0	79.0	78.0					5																	66055638		1949	4137	6086	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66055638G>C	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.465G>C	5.37:g.66055638G>C						MAST4_uc010iwz.2_Silent_p.L155L	p.L155L	NM_198828	NP_942123	O15021	MAST4_HUMAN		Lung(70;0.011)	2	773	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	155					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.465G>C	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245130	0.22796	.	.	ENSG00000069020	ENST00000452953	.	.	.	5.16	3.31	0.37934	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0476	0.36356	0.0:0.2584:0.4596:0.282	.	.	.	.	S	28	.	.	X	+	2	2	MAST4	66091394	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.625000	0.24477	0.713000	0.32060	0.655000	0.94253	TGA		0.512	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			6	45	0	0	0	0.001984	0	6	45				
PDE8B	8622	broad.mit.edu	37	5	76709008	76709008	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:76709008C>T	ENST00000264917.5	+	17	1830	c.1785C>T	c.(1783-1785)acC>acT	p.T595T	PDE8B_ENST00000340978.3_Silent_p.T548T|PDE8B_ENST00000505283.1_Silent_p.T60T|PDE8B_ENST00000342343.4_Silent_p.T575T|PDE8B_ENST00000346042.3_Silent_p.T498T|PDE8B_ENST00000333194.4_Silent_p.T540T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	595	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.T595T(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GTTCTGAAACCACTCTTCGGG	0.498																																							uc003kfa.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1783-1785)ACC>ACT		phosphodiesterase 8B isoform 1							209.0	197.0	201.0					5																	76709008		2203	4300	6503	SO:0001819	synonymous_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76709008C>T	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1785C>T	5.37:g.76709008C>T						PDE8B_uc003kfb.2_Silent_p.T575T|PDE8B_uc003kfc.2_Silent_p.T540T|PDE8B_uc003kfd.2_Silent_p.T548T|PDE8B_uc003kfe.2_Silent_p.T498T	p.T595T	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	17	1830	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	595			Catalytic (By similarity).		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	c.1785C>T	CCDS4037.1																																																																																				0.498	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		13	150	0	0	0	0.001855	0	13	150				
OTP	23440	broad.mit.edu	37	5	76932657	76932657	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:76932657A>G	ENST00000306422.3	-	2	1574	c.436T>C	c.(436-438)Tcc>Ccc	p.S146P	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	146					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S146P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		TGCACTCGGGACTCGGTCAGC	0.612																																							uc003kfg.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(436-438)TCC>CCC		orthopedia homeobox							70.0	67.0	68.0					5																	76932657		2203	4300	6503	SO:0001583	missense	23440					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:76932657A>G		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"""Homeoboxes / PRD class"""	8518	protein-coding gene	gene with protein product		604529	"""orthopedia homolog (Drosophila)"""			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.436T>C	5.37:g.76932657A>G	ENSP00000302814:p.Ser146Pro						p.S146P	NM_032109	NP_115485	Q5XKR4	OTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)	2	584	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	146			Homeobox.			Missense_Mutation	SNP	ENST00000306422.3	37	c.436T>C	CCDS4039.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.991897	0.93106	.	.	ENSG00000171540	ENST00000306422	D	0.96396	-4.0	5.21	5.21	0.72293	Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97798	0.9277	M	0.77486	2.375	0.80722	D	1	D	0.65815	0.995	D	0.71414	0.973	D	0.98435	1.0584	10	0.62326	D	0.03	.	15.0393	0.71777	1.0:0.0:0.0:0.0	.	146	Q5XKR4	OTP_HUMAN	P	146	ENSP00000302814:S146P	ENSP00000302814:S146P	S	-	1	0	OTP	76968413	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.170000	0.71920	2.100000	0.63781	0.533000	0.62120	TCC		0.612	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			4	74	0	0	0	0.009096	0	4	74				
AP3B1	8546	broad.mit.edu	37	5	77409608	77409608	+	Silent	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:77409608T>A	ENST00000255194.6	-	19	2392	c.2217A>T	c.(2215-2217)acA>acT	p.T739T	AP3B1_ENST00000519295.1_Silent_p.T690T	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	739	Glu/Ser-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.T739T(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TCCTCTTGGCTGTTCTTTTGT	0.458									Hermansky-Pudlak syndrome																														uc003kfj.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2215-2217)ACA>ACT		adaptor-related protein complex 3, beta 1							193.0	174.0	180.0					5																	77409608		2203	4300	6503	SO:0001819	synonymous_variant	8546	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77409608T>A	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2217A>T	5.37:g.77409608T>A							p.T739T	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	19	2342	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	739			Glu/Ser-rich.		E5RJ68|O00580|Q7Z393|Q9HD66	Silent	SNP	ENST00000255194.6	37	c.2217A>T	CCDS4041.1																																																																																				0.458	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			8	136	0	0	0	0.008291	0	8	136				
ACOT12	134526	broad.mit.edu	37	5	80631677	80631677	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:80631677C>A	ENST00000307624.3	-	12	1200	c.1172G>T	c.(1171-1173)tGg>tTg	p.W391L	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	391	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.W391L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CTTTTCAACCCAAACAGATAA	0.353																																							uc003khl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1171-1173)TGG>TTG		acyl-CoA thioesterase 12							68.0	74.0	72.0					5																	80631677		2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80631677C>A	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1172G>T	5.37:g.80631677C>A	ENSP00000303246:p.Trp391Leu					RNU5E_uc011cto.1_Intron	p.W391L	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	12	1227	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	391			START.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.1172G>T	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798341	0.31777	.	.	ENSG00000172497	ENST00000307624	T	0.27720	1.65	5.24	4.36	0.52297	Lipid-binding START (2);START-like domain (1);	0.386480	0.25068	N	0.033395	T	0.28830	0.0715	L	0.57536	1.79	0.80722	D	1	B	0.15930	0.015	B	0.19666	0.026	T	0.09100	-1.0690	10	0.44086	T	0.13	1.76	7.679	0.28502	0.0:0.8051:0.0:0.1949	.	391	Q8WYK0	ACO12_HUMAN	L	391	ENSP00000303246:W391L	ENSP00000303246:W391L	W	-	2	0	ACOT12	80667433	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	1.703000	0.37846	1.313000	0.45069	0.561000	0.74099	TGG		0.353	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		11	73	1	0	0.000978159	0.000978	0.00111244	11	73				
MAN2A1	4124	broad.mit.edu	37	5	109155485	109155485	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:109155485A>G	ENST00000261483.4	+	14	3277	c.2225A>G	c.(2224-2226)gAt>gGt	p.D742G		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	742					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.D742G(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAAGTAGAAGATAGCGGAATT	0.328																																							uc003kou.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2224-2226)GAT>GGT		mannosidase, alpha, class 2A, member 1							90.0	106.0	101.0					5																	109155485		2202	4295	6497	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109155485A>G		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2225A>G	5.37:g.109155485A>G	ENSP00000261483:p.Asp742Gly						p.D742G	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	14	3188	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	742			Lumenal (Potential).		Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.2225A>G	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	A	2.946	-0.217814	0.06101	.	.	ENSG00000112893	ENST00000261483	D	0.83075	-1.68	5.9	-2.77	0.05877	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	1.407880	0.03773	N	0.260024	T	0.71821	0.3385	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.48948	-0.8989	10	0.23302	T	0.38	-0.2208	2.4291	0.04467	0.2992:0.3967:0.1333:0.1708	.	742	Q16706	MA2A1_HUMAN	G	742	ENSP00000261483:D742G	ENSP00000261483:D742G	D	+	2	0	MAN2A1	109183384	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.505000	0.22642	-0.372000	0.07992	-0.250000	0.11733	GAT		0.328	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			31	145	0	0	0	0.008361	0	31	145				
SEMA6A	57556	broad.mit.edu	37	5	115783374	115783374	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:115783374A>C	ENST00000343348.6	-	19	2815	c.2028T>G	c.(2026-2028)caT>caG	p.H676Q	CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503865.1_Missense_Mutation_p.H55Q|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.H676Q|SEMA6A_ENST00000257414.8_Missense_Mutation_p.H693Q|SEMA6A_ENST00000513137.1_Missense_Mutation_p.H103Q|SEMA6A_ENST00000282394.6_Missense_Mutation_p.H153Q|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	676					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.H676Q(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CTTTGCGCCGATGATCACAGA	0.622																																							uc010jck.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2026-2028)CAT>CAG		sema domain, transmembrane domain (TM), and							48.0	53.0	51.0					5																	115783374		2103	4237	6340	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115783374A>C	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2028T>G	5.37:g.115783374A>C	ENSP00000345512:p.His676Gln					SEMA6A_uc003krx.3_Missense_Mutation_p.H693Q|SEMA6A_uc011cwe.1_Missense_Mutation_p.H55Q|SEMA6A_uc003krv.3_Missense_Mutation_p.H103Q|SEMA6A_uc003krw.3_Missense_Mutation_p.H153Q|SEMA6A_uc010jcj.2_Missense_Mutation_p.H220Q	p.H676Q	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	2737	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	676			Cytoplasmic (Potential).		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.2028T>G	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.34|16.34	3.096446|3.096446	0.56075|0.56075	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263|ENST00000515129	T;T;T;T;T;T|.	0.47528|.	2.12;2.14;0.84;2.65;0.84;2.12|.	4.58|4.58	3.47|3.47	0.39725|0.39725	.|.	0.182954|.	0.48286|.	N|.	0.000199|.	T|T	0.56630|0.56630	0.1998|0.1998	L|L	0.49126|0.49126	1.545|1.545	0.48135|0.48135	D|D	0.999593|0.999593	D;D;D;D;D;D|.	0.89917|.	0.997;0.964;1.0;0.997;1.0;0.999|.	D;P;D;D;D;D|.	0.83275|.	0.991;0.532;0.996;0.958;0.996;0.994|.	T|T	0.51252|0.51252	-0.8729|-0.8729	10|5	0.34782|.	T|.	0.22|.	.|.	8.4932|8.4932	0.33112|0.33112	0.3003:0.0:0.6997:0.0|0.3003:0.0:0.6997:0.0	.|.	55;676;220;693;153;103|.	E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01|.	.;SEM6A_HUMAN;.;.;.;.|.	Q|S	676;693;103;153;55;676|191	ENSP00000345512:H676Q;ENSP00000257414:H693Q;ENSP00000422997:H103Q;ENSP00000282394:H153Q;ENSP00000425364:H55Q;ENSP00000424388:H676Q|.	ENSP00000257414:H693Q|.	H|I	-|-	3|2	2|0	SEMA6A|SEMA6A	115811273|115811273	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	1.719000|1.719000	0.38011|0.38011	0.935000|0.935000	0.37341|0.37341	-0.227000|-0.227000	0.12334|0.12334	CAT|ATC		0.622	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		3	31	0	0	0	0.004672	0	3	31				
MEGF10	84466	broad.mit.edu	37	5	126791128	126791128	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:126791128T>C	ENST00000274473.6	+	25	3328	c.3061T>C	c.(3061-3063)Tgc>Cgc	p.C1021R	MEGF10_ENST00000503335.2_Missense_Mutation_p.C1021R|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1021	Necessary for formation of large intracellular vacuoles.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.C1021R(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TTCAAGTAACTGCTCCCTAAG	0.418																																							uc003kuh.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(3061-3063)TGC>CGC		multiple EGF-like-domains 10 precursor							120.0	137.0	131.0					5																	126791128		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126791128T>C	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.3061T>C	5.37:g.126791128T>C	ENSP00000274473:p.Cys1021Arg					MEGF10_uc003kui.3_Missense_Mutation_p.C1021R	p.C1021R	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	25	3423	+		Prostate(80;0.165)	1021			Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.3061T>C	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415802	0.83449	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.81247	-1.47;-1.47	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.88998	0.6590	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89817	0.3986	10	0.62326	D	0.03	-19.2403	15.9734	0.80040	0.0:0.0:0.0:1.0	.	1021	Q96KG7	MEG10_HUMAN	R	1021	ENSP00000423354:C1021R;ENSP00000274473:C1021R	ENSP00000274473:C1021R	C	+	1	0	MEGF10	126819027	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.874000	0.69652	2.164000	0.68074	0.533000	0.62120	TGC		0.418	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		34	165	0	0	0	0.00874	0	34	165				
FBN2	2201	broad.mit.edu	37	5	127595411	127595411	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:127595411G>T	ENST00000508053.1	-	71	9449	c.8475C>A	c.(8473-8475)atC>atA	p.I2825I	FBN2_ENST00000262464.4_Silent_p.I2825I			P35556	FBN2_HUMAN	fibrillin 2	2825					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I2825I(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGAGGGGCTGGATGGCGGGCC	0.552																																							uc003kuu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(8473-8475)ATC>ATA		fibrillin 2 precursor							154.0	143.0	147.0					5																	127595411		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127595411G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8475C>A	5.37:g.127595411G>T							p.I2825I	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	65	8914	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2825					B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.8475C>A	CCDS34222.1																																																																																				0.552	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		21	96	1	0	4.54149e-19	0.002299	7.53853e-19	21	96				
FBN2	2201	broad.mit.edu	37	5	127648325	127648325	+	Splice_Site	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:127648325C>A	ENST00000508053.1	-	43	5854		c.e43+1		FBN2_ENST00000262464.4_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.?(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTTGTACTTACTGCTATTGAC	0.502																																							uc003kuu.2		NA																	2	Unknown(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.e37+1		fibrillin 2 precursor							193.0	208.0	203.0					5																	127648325		2203	4300	6503	SO:0001630	splice_region_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648325C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4879+1G>T	5.37:g.127648325C>A							p.T1627_splice	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	37	5318	-		all_cancers(142;0.0216)|Prostate(80;0.0551)						B4DU01|Q59ES6	Splice_Site	SNP	ENST00000508053.1	37	c.4879_splice	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954628	0.73902	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	.	.	.	5.41	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6907	0.77450	0.1379:0.8621:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN2	127676224	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.585000	0.82584	1.515000	0.48885	0.655000	0.94253	.		0.502	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Intron	22	302	1	0	9.86323e-18	0.003954	1.61642e-17	22	302				
FBN2	2201	broad.mit.edu	37	5	127782300	127782300	+	Splice_Site	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:127782300C>G	ENST00000508053.1	-	13	1801		c.e13-1		FBN2_ENST00000262464.4_Splice_Site|FBN2_ENST00000508989.1_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.?(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATCAACATCTGCAAGAAGA	0.363																																							uc003kuu.2		NA																	2	Unknown(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.e7-1		fibrillin 2 precursor							104.0	98.0	100.0					5																	127782300		2203	4300	6503	SO:0001630	splice_region_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127782300C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.827-1G>C	5.37:g.127782300C>G						FBN2_uc003kuv.2_Splice_Site_p.D243_splice|FBN2_uc003kuw.3_Splice_Site_p.D276_splice|FBN2_uc003kux.1_Intron	p.D276_splice	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	7	1266	-		all_cancers(142;0.0216)|Prostate(80;0.0551)						B4DU01|Q59ES6	Splice_Site	SNP	ENST00000508053.1	37	c.827_splice	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358796	0.82353	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5047	0.87741	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN2	127810199	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.599000	0.82757	2.613000	0.88420	0.650000	0.86243	.		0.363	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Intron	16	103	0	0	0	0.001882	0	16	103				
FSTL4	23105	broad.mit.edu	37	5	132569153	132569153	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:132569153G>T	ENST00000265342.7	-	8	1220	c.971C>A	c.(970-972)tCc>tAc	p.S324Y	FSTL4_ENST00000507112.1_5'UTR	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	324	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.S324Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCGTGGCCGGAAGCATGGCA	0.542																																							uc003kyn.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(970-972)TCC>TAC		follistatin-like 4 precursor							177.0	156.0	163.0					5																	132569153		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132569153G>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.971C>A	5.37:g.132569153G>T	ENSP00000265342:p.Ser324Tyr						p.S324Y	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1189	-		all_cancers(142;0.244)	324			Ig-like 1.		Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.971C>A	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	G	1.715	-0.498136	0.04291	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.13307	2.6	5.18	2.03	0.26663	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.465686	0.25383	N	0.031076	T	0.08582	0.0213	L	0.35487	1.065	0.22803	N	0.998714	B	0.02656	0.0	B	0.06405	0.002	T	0.25502	-1.0130	10	0.35671	T	0.21	-2.9644	4.0029	0.09588	0.2182:0.0:0.4079:0.3739	.	324	Q6MZW2	FSTL4_HUMAN	Y	324;155	ENSP00000265342:S324Y	ENSP00000265342:S324Y	S	-	2	0	FSTL4	132597052	0.994000	0.37717	0.179000	0.23059	0.871000	0.50021	3.521000	0.53472	0.565000	0.29255	0.460000	0.39030	TCC		0.542	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		11	52	1	0	7.03913e-09	0.001368	1.01055e-08	11	52				
KDM3B	51780	broad.mit.edu	37	5	137727215	137727215	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:137727215G>C	ENST00000314358.5	+	8	2094	c.1894G>C	c.(1894-1896)Gag>Cag	p.E632Q	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Missense_Mutation_p.E288Q	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	632					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.E632Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTCCCGAGAAGAGCCTTCTAA	0.502																																							uc003lcy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(1894-1896)GAG>CAG		jumonji domain containing 1B							69.0	77.0	74.0					5																	137727215		2203	4297	6500	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137727215G>C	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1894G>C	5.37:g.137727215G>C	ENSP00000326563:p.Glu632Gln					KDM3B_uc010jew.1_Missense_Mutation_p.E288Q|KDM3B_uc011cys.1_Intron	p.E632Q	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			8	2094	+			632					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.1894G>C	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930797	0.73327	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.65916	-0.18;-0.18	5.29	5.29	0.74685	.	0.262172	0.37577	N	0.002039	T	0.69663	0.3136	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.78314	0.991;0.991	T	0.65479	-0.6158	10	0.24483	T	0.36	-12.0438	18.9403	0.92602	0.0:0.0:1.0:0.0	.	288;632	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	Q	632;422;288	ENSP00000326563:E632Q;ENSP00000378335:E288Q	ENSP00000326563:E632Q	E	+	1	0	KDM3B	137755114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.898000	0.92538	2.477000	0.83638	0.655000	0.94253	GAG		0.502	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		17	107	0	0	0	0.007413	0	17	107				
PAIP2	51247	broad.mit.edu	37	5	138700367	138700367	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:138700367G>T	ENST00000394795.2	+	3	1244	c.253G>T	c.(253-255)Gac>Tac	p.D85Y	PAIP2_ENST00000511381.1_3'UTR|PAIP2_ENST00000265192.4_Missense_Mutation_p.D85Y|PAIP2_ENST00000510080.1_Missense_Mutation_p.D85Y|CTB-43P18.1_ENST00000503553.3_RNA|PAIP2_ENST00000511706.1_Intron			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	85					memory (GO:0007613)|negative regulation of translational initiation (GO:0045947)|regulation of long-term synaptic potentiation (GO:1900271)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mRNA binding (GO:0003729)|translation repressor activity (GO:0030371)	p.D85Y(1)		kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACAAACTATGGACCAAATCCA	0.378																																							uc003led.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(253-255)GAC>TAC		poly(A) binding protein interacting protein 2							112.0	99.0	104.0					5																	138700367		2203	4300	6503	SO:0001583	missense	51247				negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity	g.chr5:138700367G>T	AF151052	CCDS4211.1	5q32	2008-02-05			ENSG00000120727	ENSG00000120727			17970	protein-coding gene	gene with protein product		605604				11172725, 16804161	Standard	NM_016480		Approved	PAIP2A	uc003led.3	Q9BPZ3	OTTHUMG00000129227	ENST00000394795.2:c.253G>T	5.37:g.138700367G>T	ENSP00000378275:p.Asp85Tyr					PAIP2_uc003lee.2_Missense_Mutation_p.D85Y|PAIP2_uc003lef.2_Missense_Mutation_p.D85Y	p.D85Y	NM_016480	NP_057564	Q9BPZ3	PAIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	430	+			85					B2RBI1|D3DQC6|Q49A06|Q9H0Y5|Q9P0Q8	Missense_Mutation	SNP	ENST00000394795.2	37	c.253G>T	CCDS4211.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185713	0.78789	.	.	ENSG00000120727	ENST00000507755;ENST00000265192;ENST00000394795;ENST00000510080	.	.	.	5.79	5.79	0.91817	.	0.297502	0.37437	N	0.002090	T	0.37598	0.1009	N	0.08118	0	0.53688	D	0.999978	D	0.55172	0.97	B	0.41332	0.354	T	0.47142	-0.9140	9	0.62326	D	0.03	-12.253	19.6264	0.95679	0.0:0.0:1.0:0.0	.	85	Q9BPZ3	PAIP2_HUMAN	Y	85	.	ENSP00000265192:D85Y	D	+	1	0	PAIP2	138728266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.190000	0.65104	2.746000	0.94184	0.655000	0.94253	GAC		0.378	PAIP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373002.1	NM_016480		13	83	1	0	0.00136819	0.001368	0.00153476	13	83				
PSD2	84249	broad.mit.edu	37	5	139192997	139192997	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:139192997G>T	ENST00000274710.3	+	3	680	c.475G>T	c.(475-477)Gac>Tac	p.D159Y		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	159					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.D159Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGCCTCGACTCCCTAGA	0.657																																							uc003leu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(475-477)GAC>TAC		pleckstrin and Sec7 domain containing 2							39.0	42.0	41.0					5																	139192997		2203	4299	6502	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139192997G>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.475G>T	5.37:g.139192997G>T	ENSP00000274710:p.Asp159Tyr						p.D159Y	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	680	+			159					D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.475G>T	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121617	0.56613	.	.	ENSG00000146005	ENST00000274710	T	0.33654	1.4	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59500	-0.7443	10	0.72032	D	0.01	.	15.7681	0.78143	0.0:0.0:1.0:0.0	.	159	Q9BQI7	PSD2_HUMAN	Y	159	ENSP00000274710:D159Y	ENSP00000274710:D159Y	D	+	1	0	PSD2	139173181	1.000000	0.71417	0.870000	0.34147	0.225000	0.24961	8.652000	0.91083	2.214000	0.71695	0.462000	0.41574	GAC		0.657	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		10	66	1	0	1.08611e-07	0.000978	1.50885e-07	10	66				
HARS	3035	broad.mit.edu	37	5	140054305	140054305	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140054305C>T	ENST00000504156.1	-	12	2136	c.1417G>A	c.(1417-1419)Gat>Aat	p.D473N	HARS_ENST00000504366.1_Missense_Mutation_p.D404N|HARS_ENST00000307633.3_Missense_Mutation_p.D413N|DND1_ENST00000542735.1_5'Flank|HARS_ENST00000415192.2_Missense_Mutation_p.D399N|HARS_ENST00000438307.2_Missense_Mutation_p.D433N|HARS_ENST00000448240.1_Missense_Mutation_p.D278N|HARS_ENST00000431330.2_Missense_Mutation_p.D359N|HARS_ENST00000457527.2_Missense_Mutation_p.D453N	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	473					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)	p.D473N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	ATGACCCCATCCTTGAGTTCC	0.552																																							uc003lgv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1417-1419)GAT>AAT		histidyl-tRNA synthetase	L-Histidine(DB00117)						180.0	168.0	172.0					5																	140054305		2203	4300	6503	SO:0001583	missense	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140054305C>T	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.1417G>A	5.37:g.140054305C>T	ENSP00000425634:p.Asp473Asn					DND1_uc003lgt.2_5'Flank|HARS_uc003lgu.2_Missense_Mutation_p.D404N|HARS_uc011czm.1_Missense_Mutation_p.D433N|HARS_uc003lgw.2_Missense_Mutation_p.D453N|HARS_uc011czn.1_Missense_Mutation_p.D413N|HARS_uc010jfu.2_Intron|HARS_uc011czo.1_Missense_Mutation_p.D399N|HARS_uc011czp.1_Missense_Mutation_p.D359N	p.D473N	NM_002109	NP_002100	P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1499	-			473					B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	c.1417G>A	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715604	0.68844	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000448240;ENST00000438307;ENST00000415192	D;D;D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	4.82	4.82	0.62117	Anticodon-binding (3);	0.098828	0.64402	D	0.000003	T	0.79240	0.4412	N	0.20328	0.56	0.58432	D	0.99999	B;B;B;B;B;B	0.28350	0.003;0.026;0.091;0.051;0.091;0.208	B;B;B;B;B;B	0.40375	0.012;0.036;0.139;0.139;0.139;0.327	T	0.76263	-0.3023	10	0.34782	T	0.22	-11.2749	18.2749	0.90080	0.0:1.0:0.0:0.0	.	359;399;413;433;453;473	B4E1C5;B4DDD8;B4DHQ1;B4DY73;D6REN6;P12081	.;.;.;.;.;SYHC_HUMAN	N	473;453;359;404;413;278;433;399	ENSP00000425634:D473N;ENSP00000387893:D453N;ENSP00000393244:D359N;ENSP00000430063:D404N;ENSP00000304668:D413N;ENSP00000413605:D278N;ENSP00000411511:D433N;ENSP00000411085:D399N	ENSP00000304668:D413N	D	-	1	0	HARS	140034489	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.059000	0.57470	2.384000	0.81235	0.467000	0.42956	GAT		0.552	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		15	101	0	0	0	0.00245	0	15	101				
PCDHA1	56147	broad.mit.edu	37	5	140166214	140166214	+	Silent	SNP	G	G	A	rs550994598		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140166214G>A	ENST00000504120.2	+	1	339	c.339G>A	c.(337-339)ccG>ccA	p.P113P	PCDHA1_ENST00000378133.3_Silent_p.P113P|PCDHA1_ENST00000394633.3_Silent_p.P113P	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P113P(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGACAGGCCGCTGCAGGTTT	0.498																																							uc003lhb.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(337-339)CCG>CCA		protocadherin alpha 1 isoform 1 precursor							73.0	79.0	77.0					5																	140166214		2203	4300	6503	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140166214G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.339G>A	5.37:g.140166214G>A						PCDHA1_uc003lha.2_Silent_p.P113P|PCDHA1_uc003lgz.2_Silent_p.P113P	p.P113P	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	339	+			113			Cadherin 1.|Extracellular (Potential).		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.339G>A	CCDS54913.1																																																																																				0.498	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		10	73	0	0	0	0.006214	0	10	73				
PCDHA4	56144	broad.mit.edu	37	5	140187260	140187260	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140187260G>T	ENST00000530339.1	+	1	488	c.488G>T	c.(487-489)gGg>gTg	p.G163V	PCDHA4_ENST00000512229.2_Missense_Mutation_p.G163V|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G163V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	163	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G163V(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGATATCGGGGAGAACGCC	0.522																																							uc003lhi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(487-489)GGG>GTG		protocadherin alpha 4 isoform 1 precursor							60.0	64.0	63.0					5																	140187260		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140187260G>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.488G>T	5.37:g.140187260G>T	ENSP00000435300:p.Gly163Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.G163V|PCDHA4_uc011daa.1_Missense_Mutation_p.G163V	p.G163V	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	589	+			163			Extracellular (Potential).|Cadherin 2.		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.488G>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	12.77	2.037305	0.35989	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.51574	0.7;0.7;0.7	4.62	4.62	0.57501	Cadherin (4);Cadherin-like (1);	0.182762	0.25975	U	0.027110	D	0.83298	0.5224	H	0.99746	4.745	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.81914	0.982;0.993;0.995	D	0.91675	0.5353	10	0.87932	D	0	.	17.8071	0.88605	0.0:0.0:1.0:0.0	.	163;163;163	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	V	163	ENSP00000423470:G163V;ENSP00000349344:G163V;ENSP00000435300:G163V	ENSP00000349344:G163V	G	+	2	0	PCDHA4	140167444	1.000000	0.71417	0.018000	0.16275	0.031000	0.12232	7.967000	0.87967	2.284000	0.76573	0.563000	0.77884	GGG		0.522	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		15	59	1	0	7.93312e-07	0.00245	1.0676e-06	15	59				
PCDHA6	56142	broad.mit.edu	37	5	140207688	140207688	+	Silent	SNP	C	C	A	rs17844300		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140207688C>A	ENST00000529310.1	+	1	126	c.12C>A	c.(10-12)acC>acA	p.T4T	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.T4T|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	4					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)	p.T4T(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGTTTACCCCGGAGGATA	0.473																																							uc003lho.2		NA																	2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(10-12)ACC>ACA		protocadherin alpha 6 isoform 1 precursor							119.0	137.0	131.0					5																	140207688		2203	4300	6503	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140207688C>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.12C>A	5.37:g.140207688C>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.T4T|PCDHA6_uc011dab.1_Silent_p.T4T	p.T4T	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	39	+			4					O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.12C>A	CCDS47281.1																																																																																				0.473	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		26	144	1	0	1.75199e-13	0.007291	2.78529e-13	26	144				
PCDHA6	56142	broad.mit.edu	37	5	140209902	140209902	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140209902C>A	ENST00000529310.1	+	1	2340	c.2226C>A	c.(2224-2226)tcC>tcA	p.S742S	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	742					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)	p.S742S(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGTGCTCCAGCGCAGTGG	0.692																																							uc003lho.2		NA																	2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(2224-2226)TCC>TCA		protocadherin alpha 6 isoform 1 precursor							45.0	45.0	45.0					5																	140209902		2203	4299	6502	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209902C>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2226C>A	5.37:g.140209902C>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.S742S	p.S742S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2253	+			742			Cytoplasmic (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.2226C>A	CCDS47281.1																																																																																				0.692	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		12	43	1	0	2.80697e-09	0.000978	4.09483e-09	12	43				
PCDHA9	9752	broad.mit.edu	37	5	140229524	140229524	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140229524G>C	ENST00000532602.1	+	1	2477	c.1444G>C	c.(1444-1446)Gct>Cct	p.A482P	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.A482P|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A482P(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGGGACGCTGACGCGCA	0.662																																					Melanoma(55;1800 1972 14909)	Melanoma(55;1800 1972 14909)	uc003lhu.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(1)	5						c.(1444-1446)GCT>CCT		protocadherin alpha 9 isoform 1 precursor							56.0	62.0	60.0					5																	140229524		2195	4266	6461	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229524G>C	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1444G>C	5.37:g.140229524G>C	ENSP00000436042:p.Ala482Pro					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_uc003lht.1_Missense_Mutation_p.A482P	p.A482P	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2168	+			482			Cadherin 5.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1444G>C	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.540585	0.00934	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.60672	0.17;0.17	3.56	2.59	0.31030	Cadherin (4);Cadherin-like (1);	0.309106	0.16697	U	0.203312	T	0.25644	0.0624	N	0.01134	-0.995	0.24126	N	0.995786	B;B	0.25312	0.123;0.089	B;B	0.23018	0.037;0.043	T	0.23048	-1.0199	10	0.87932	D	0	.	8.467	0.32962	0.0:0.2474:0.6189:0.1337	.	482;482	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	P	482	ENSP00000436042:A482P;ENSP00000367362:A482P	ENSP00000367362:A482P	A	+	1	0	PCDHA9	140209708	0.000000	0.05858	0.997000	0.53966	0.026000	0.11368	-0.742000	0.04850	1.973000	0.57446	0.306000	0.20318	GCT		0.662	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		15	70	0	0	0	0.00245	0	15	70				
PCDHB1	29930	broad.mit.edu	37	5	140433275	140433275	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140433275G>A	ENST00000306549.3	+	1	2297	c.2220G>A	c.(2218-2220)ctG>ctA	p.L740L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	740					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L740L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAACAACCTGGTACAAGGAC	0.373																																							uc003lik.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2218-2220)CTG>CTA		protocadherin beta 1 precursor							109.0	107.0	108.0					5																	140433275		2203	4300	6503	SO:0001819	synonymous_variant	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140433275G>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2220G>A	5.37:g.140433275G>A							p.L740L	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2297	+			740			Cytoplasmic (Potential).		Q2M257	Silent	SNP	ENST00000306549.3	37	c.2220G>A	CCDS4243.1																																																																																				0.373	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		12	72	0	0	0	0.00245	0	12	72				
PCDHB4	56131	broad.mit.edu	37	5	140503371	140503371	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140503371G>T	ENST00000194152.1	+	1	1791	c.1791G>T	c.(1789-1791)caG>caT	p.Q597H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	597	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q597H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGGGCCAGAACGCCTGGC	0.716																																							uc003lip.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1789-1791)CAG>CAT		protocadherin beta 4 precursor							13.0	14.0	14.0					5																	140503371		1860	3748	5608	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503371G>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1791G>T	5.37:g.140503371G>T	ENSP00000194152:p.Gln597His						p.Q597H	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1791	+			597			Cadherin 6.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1791G>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.327882	0.60743	.	.	ENSG00000081818	ENST00000194152	T	0.53640	0.61	4.01	4.01	0.46588	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.49643	0.1569	N	0.25094	0.71	0.39188	D	0.962912	D	0.65815	0.995	P	0.61722	0.893	T	0.56300	-0.8002	9	0.87932	D	0	.	11.5914	0.50947	0.0:0.0:0.8216:0.1784	.	597	Q9Y5E5	PCDB4_HUMAN	H	597	ENSP00000194152:Q597H	ENSP00000194152:Q597H	Q	+	3	2	PCDHB4	140483555	0.081000	0.21417	1.000000	0.80357	0.997000	0.91878	-0.466000	0.06672	2.235000	0.73313	0.485000	0.47835	CAG		0.716	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		13	52	1	0	2.61681e-11	0.00245	3.97809e-11	13	52				
PCDHB11	56125	broad.mit.edu	37	5	140580428	140580429	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140580428_140580429CC>GA	ENST00000354757.3	+	1	1081_1082	c.1081_1082CC>GA	c.(1081-1083)CCa>GAa	p.P361E	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	361	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P361E(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAAAATACGCCAGAGACCGTG	0.401																																							uc003liy.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1081-1083)CCA>GAA		protocadherin beta 11 precursor																																				SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580428_140580429CC>GA	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	Exception_encountered	5.37:g.140580428_140580429delinsGA	ENSP00000346802:p.Pro361Glu					PCDHB11_uc011daj.1_5'UTR	p.P361E	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1081_1082	+			361			Extracellular (Potential).|Cadherin 4.		B4DSF7|Q2M223	Missense_Mutation	DNP	ENST00000354757.3	37	c.1081_1082CC>GA	CCDS4253.1																																																																																				0.401	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		19	127	0	0	0	0.004672	0	19	127				
PCDHGA2	56113	broad.mit.edu	37	5	140720491	140720491	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140720491G>T	ENST00000394576.2	+	1	1953	c.1953G>T	c.(1951-1953)caG>caT	p.Q651H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	651	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q651H(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACGGCCAGCCCCCTCTCT	0.711																																							uc003ljk.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1951-1953)CAG>CAT		protocadherin gamma subfamily A, 2 isoform 1							43.0	52.0	49.0					5																	140720491		2201	4298	6499	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720491G>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1953G>T	5.37:g.140720491G>T	ENSP00000378077:p.Gln651His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.Q651H	p.Q651H	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2138	+			651			Extracellular (Potential).|Cadherin 6.		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1953G>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	13.31	2.199591	0.38806	.	.	ENSG00000081853	ENST00000394576	T	0.52983	0.64	5.14	1.22	0.21188	Cadherin (4);Cadherin-like (1);	0.194283	0.24160	U	0.040985	T	0.51500	0.1678	L	0.39020	1.185	0.24958	N	0.991749	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.986	T	0.35400	-0.9790	10	0.66056	D	0.02	.	6.3646	0.21447	0.2985:0.1226:0.5788:0.0	.	651;651	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	H	651	ENSP00000378077:Q651H	ENSP00000378077:Q651H	Q	+	3	2	PCDHGA2	140700675	0.164000	0.22935	0.990000	0.47175	0.006000	0.05464	0.976000	0.29462	0.272000	0.22027	-0.443000	0.05667	CAG		0.711	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		8	67	1	0	7.48243e-07	0.006214	1.00996e-06	8	67				
PCDHGA6	56109	broad.mit.edu	37	5	140754602	140754602	+	Missense_Mutation	SNP	G	G	T	rs541605714		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140754602G>T	ENST00000517434.1	+	1	952	c.952G>T	c.(952-954)Ggt>Tgt	p.G318C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	318	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G318C(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATGAGCTGGGTGTTGAAGC	0.398																																							uc003ljy.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(952-954)GGT>TGT		protocadherin gamma subfamily A, 6 isoform 1							128.0	131.0	130.0					5																	140754602		1847	4083	5930	SO:0001583	missense	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140754602G>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.952G>T	5.37:g.140754602G>T	ENSP00000429601:p.Gly318Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.G318C	p.G318C	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	952	+			318			Cadherin 3.|Extracellular (Potential).		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.952G>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	13.64	2.296822	0.40594	.	.	ENSG00000253731	ENST00000517434	T	0.51574	0.7	5.14	3.37	0.38596	Cadherin (5);Cadherin-like (1);	0.267379	0.18570	U	0.137372	T	0.47728	0.1461	L	0.42245	1.32	0.18873	N	0.999986	P;P	0.47762	0.878;0.9	P;B	0.52267	0.694;0.386	T	0.33701	-0.9858	10	0.66056	D	0.02	.	6.7413	0.23437	0.1488:0.0:0.709:0.1422	.	318;318	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	C	318	ENSP00000429601:G318C	ENSP00000429601:G318C	G	+	1	0	PCDHGA6	140734786	0.000000	0.05858	1.000000	0.80357	0.922000	0.55478	0.380000	0.20602	0.868000	0.35678	-0.126000	0.14955	GGT		0.398	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		37	157	1	0	7.04047e-22	0.005524	1.1839e-21	37	157				
PCDHGA6	56109	broad.mit.edu	37	5	140755009	140755009	+	Silent	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140755009C>G	ENST00000517434.1	+	1	1359	c.1359C>G	c.(1357-1359)ccC>ccG	p.P453P	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	453	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P453P(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTTCCCCCATTCATCCT	0.527																																							uc003ljy.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1357-1359)CCC>CCG		protocadherin gamma subfamily A, 6 isoform 1							139.0	154.0	149.0					5																	140755009		2095	4225	6320	SO:0001819	synonymous_variant	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140755009C>G	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1359C>G	5.37:g.140755009C>G						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.P453P	p.P453P	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1359	+			453			Extracellular (Potential).|Cadherin 5.		A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.1359C>G	CCDS54926.1																																																																																				0.527	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		23	135	0	0	0	0.00333	0	23	135				
PCDHGA7	56108	broad.mit.edu	37	5	140764324	140764324	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:140764324G>T	ENST00000518325.1	+	1	1858	c.1858G>T	c.(1858-1860)Ggg>Tgg	p.G620W	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	620	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G620W(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGCGGTTGGGCTGTACAC	0.647																																							uc003lka.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1858-1860)GGG>TGG		protocadherin gamma subfamily A, 7 isoform 1							46.0	54.0	51.0					5																	140764324		2203	4300	6503	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140764324G>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1858G>T	5.37:g.140764324G>T	ENSP00000430024:p.Gly620Trp					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.G620W	p.G620W	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1858	+			620			Extracellular (Potential).|Cadherin 6.		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1858G>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	13.70	2.314843	0.40996	.	.	ENSG00000253537	ENST00000518325	T	0.60548	0.18	5.01	5.01	0.66863	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76040	0.3932	M	0.80847	2.515	0.35060	D	0.761469	D;D	0.89917	0.982;1.0	P;D	0.87578	0.895;0.998	D	0.84074	0.0381	9	0.87932	D	0	.	13.1045	0.59239	0.0796:0.0:0.9204:0.0	.	620;620	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	W	620	ENSP00000430024:G620W	ENSP00000430024:G620W	G	+	1	0	PCDHGA7	140744508	0.188000	0.23250	1.000000	0.80357	0.073000	0.16967	1.818000	0.39012	2.484000	0.83849	0.655000	0.94253	GGG		0.647	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		5	42	1	0	0.00116845	0.001168	0.00131559	5	42				
SH3TC2	79628	broad.mit.edu	37	5	148406269	148406269	+	Silent	SNP	C	C	T	rs145528276		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:148406269C>T	ENST00000515425.1	-	12	3020	c.2919G>A	c.(2917-2919)gtG>gtA	p.V973V	SH3TC2_ENST00000512049.1_Silent_p.V966V|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000394358.2_Missense_Mutation_p.C894Y|SH3TC2_ENST00000538184.1_Silent_p.V520V	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	973					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.V973V(1)|p.C894Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTTGGGGACACAGAGCTGT	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20811	0.0		0.0	False		,,,				2504	0.0						uc003lpu.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(2)	2						c.(2917-2919)GTG>GTA		SH3 domain and tetratricopeptide repeats 2		C		5,4401	9.9+/-24.2	0,5,2198	174.0	172.0	173.0		2919	2.5	1.0	5	dbSNP_134	173	0,8600		0,0,4300	no	coding-synonymous	SH3TC2	NM_024577.3		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		973/1289	148406269	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	79628						binding	g.chr5:148406269C>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2919G>A	5.37:g.148406269C>T						SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Silent_p.V617V|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Silent_p.V520V|SH3TC2_uc010jgx.2_Silent_p.V966V|SH3TC2_uc003lpv.1_Missense_Mutation_p.C556Y|SH3TC2_uc011dbz.1_Missense_Mutation_p.C894Y	p.V973V	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	3071	-			973					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	ENST00000515425.1	37	c.2919G>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.407765	0.01155	0.001135	0.0	ENSG00000169247	ENST00000394358	T	0.73152	-0.72	5.37	2.52	0.30459	.	.	.	.	.	T	0.59569	0.2203	.	.	.	0.26455	N	0.97554	B	0.19200	0.034	B	0.17433	0.018	T	0.53194	-0.8473	8	0.49607	T	0.09	-19.8259	9.4729	0.38853	0.2553:0.6778:0.0:0.0669	.	894	C9JLC3	.	Y	894	ENSP00000377886:C894Y	ENSP00000377886:C894Y	C	-	2	0	SH3TC2	148386462	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.113000	0.31184	0.830000	0.34757	0.591000	0.81541	TGT		0.542	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		10	191	0	0	0	0.008291	0	10	191				
ARSI	340075	broad.mit.edu	37	5	149678006	149678006	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:149678006G>A	ENST00000328668.7	-	2	1060	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	161					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.R161C(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCCCCGACGGGTGGGCAGA	0.602																																							uc003lrv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(481-483)CGT>TGT		arylsulfatase family, member I precursor							51.0	54.0	53.0					5																	149678006		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149678006G>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.481C>T	5.37:g.149678006G>A	ENSP00000333395:p.Arg161Cys						p.R161C	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1070	-			161					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.481C>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828198	0.50845	.	.	ENSG00000183876	ENST00000328668;ENST00000515301;ENST00000509146	D;D;D	0.96619	-4.07;-4.07;-4.07	4.58	4.58	0.56647	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96210	0.8764	M	0.84219	2.685	0.80722	D	1	B	0.21688	0.059	B	0.26969	0.075	D	0.95115	0.8241	10	0.46703	T	0.11	.	17.5911	0.87997	0.0:0.0:1.0:0.0	.	161	Q5FYB1	ARSI_HUMAN	C	161;18;18	ENSP00000333395:R161C;ENSP00000426879:R18C;ENSP00000420955:R18C	ENSP00000333395:R161C	R	-	1	0	ARSI	149658199	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.910000	0.56371	2.375000	0.81037	0.561000	0.74099	CGT		0.602	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		8	45	0	0	0	0.004482	0	8	45				
RPS14	6208	broad.mit.edu	37	5	149826406	149826406	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:149826406G>A	ENST00000401695.3	-	3	316	c.270C>T	c.(268-270)atC>atT	p.I90I	RPS14_ENST00000407193.1_Silent_p.I90I|RPS14_ENST00000312037.5_Silent_p.I90I			P62263	RS14_HUMAN	ribosomal protein S14	90					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)	p.I90I(1)		central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTAGGGCGGTGATACCCAGCT	0.572																																							uc003lsh.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(268-270)ATC>ATT		ribosomal protein S14							100.0	80.0	87.0					5																	149826406		2203	4300	6503	SO:0001819	synonymous_variant	6208				endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity	g.chr5:149826406G>A		CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"""S ribosomal proteins"""	10387	protein-coding gene	gene with protein product	"""emetine resistance"", ""40S ribosomal protein S14"""	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.270C>T	5.37:g.149826406G>A						uc003lsg.2_5'Flank|RPS14_uc003lsi.2_Silent_p.I90I|RPS14_uc003lsj.2_Silent_p.I90I	p.I90I	NM_001025071	NP_001020242	P62263	RS14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	543	-		all_hematologic(541;0.224)	90					B2R5G5|D3DQG5|P06366|Q5BJI0	Silent	SNP	ENST00000401695.3	37	c.270C>T	CCDS4307.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524253	0.27299	.	.	ENSG00000164587	ENST00000519855	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	T	0.74473	0.3721	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73898	-0.3837	4	.	.	.	.	18.5789	0.91164	0.0:0.0:1.0:0.0	.	.	.	.	L	32	.	.	S	-	2	0	RPS14	149806599	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.459000	0.80802	2.463000	0.83235	0.455000	0.32223	TCA		0.572	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252373.1	NM_001025071		9	78	0	0	0	0.006214	0	9	78				
G3BP1	10146	broad.mit.edu	37	5	151173720	151173720	+	Splice_Site	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:151173720G>T	ENST00000394123.3	+	5	497	c.352G>T	c.(352-354)Ggg>Tgg	p.G118W	G3BP1_ENST00000356245.3_Splice_Site_p.G118W|G3BP1_ENST00000543466.1_Intron			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	118	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.G118W(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GGCATTGCAGGGGTCTGTTGC	0.413																																							uc003lun.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(352-354)GGG>TGG		Ras-GTPase-activating protein SH3-domain-binding							107.0	110.0	109.0					5																	151173720		2203	4300	6503	SO:0001630	splice_region_variant	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151173720G>T	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.352-1G>T	5.37:g.151173720G>T						G3BP1_uc003lum.2_Missense_Mutation_p.G118W|G3BP1_uc011dcu.1_Intron|G3BP1_uc010jhz.2_Intron|G3BP1_uc003luq.2_5'Flank	p.G118W	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		5	523	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	118			NTF2.		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	c.352G>T	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588285	0.86851	.	.	ENSG00000145907	ENST00000394123;ENST00000356245;ENST00000507878	T;T	0.74315	-0.83;-0.83	5.27	5.27	0.74061	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	D	0.88713	0.6511	M	0.88450	2.955	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.89865	0.4019	9	.	.	.	-18.0596	19.2393	0.93875	0.0:0.0:1.0:0.0	.	118	Q13283	G3BP1_HUMAN	W	118;118;128	ENSP00000377681:G118W;ENSP00000348578:G118W	.	G	+	1	0	G3BP1	151153913	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.568000	0.98166	2.621000	0.88768	0.462000	0.41574	GGG		0.413	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754	Missense_Mutation	8	69	1	0	0.000274275	0.004482	0.000318342	8	69				
ITK	3702	broad.mit.edu	37	5	156608074	156608074	+	Missense_Mutation	SNP	G	G	T	rs397514261		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:156608074G>T	ENST00000422843.3	+	1	238	c.86G>T	c.(85-87)cGc>cTc	p.R29L		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	29	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R29L(2)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	TTTAAAGTCCGCTTCTTTGTG	0.398			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	Esophageal Squamous(70;1378 1469 8785 19883)	uc003lwo.1		NA		Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		2	Substitution - Missense(2)		lung(2)	lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26						c.(85-87)CGC>CTC		IL2-inducible T-cell kinase							123.0	117.0	119.0					5																	156608074		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156608074G>T	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.86G>T	5.37:g.156608074G>T	ENSP00000398655:p.Arg29Leu						p.R29L	NM_005546	NP_005537	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	168	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	29			PH.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.86G>T	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611010	0.87258	.	.	ENSG00000113263	ENST00000422843	D	0.96651	-4.08	5.57	5.57	0.84162	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.98108	0.9376	M	0.80746	2.51	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98928	1.0786	10	0.87932	D	0	.	17.7387	0.88402	0.0:0.0:1.0:0.0	.	29	Q08881	ITK_HUMAN	L	29	ENSP00000398655:R29L	ENSP00000398655:R29L	R	+	2	0	ITK	156540652	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.389000	0.79806	2.614000	0.88457	0.655000	0.94253	CGC		0.398	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			12	148	1	0	1.5842e-08	0.001855	2.24927e-08	12	148				
HMMR	3161	broad.mit.edu	37	5	162900478	162900478	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:162900478G>A	ENST00000358715.3	+	9	852	c.816G>A	c.(814-816)aaG>aaA	p.K272K	HMMR_ENST00000353866.3_Silent_p.K257K|HMMR_ENST00000393915.4_Silent_p.K273K|HMMR_ENST00000432118.2_Silent_p.K186K			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	272					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)	p.K272K(1)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TAAGCCTTAAGCAGTCTCTTG	0.313																																							uc003lzf.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(814-816)AAG>AAA		hyaluronan-mediated motility receptor isoform b							65.0	71.0	69.0					5																	162900478		2203	4289	6492	SO:0001819	synonymous_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162900478G>A	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.816G>A	5.37:g.162900478G>A						HMMR_uc003lzh.2_Silent_p.K273K|HMMR_uc003lzg.2_Silent_p.K257K|HMMR_uc011dem.1_Silent_p.K186K	p.K272K	NM_012484	NP_036616	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	9	998	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	272					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Silent	SNP	ENST00000358715.3	37	c.816G>A	CCDS4362.1																																																																																				0.313	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		3	41	0	0	0	0.004672	0	3	41				
TENM2	57451	broad.mit.edu	37	5	167626894	167626894	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:167626894C>A	ENST00000518659.1	+	17	3227	c.3188C>A	c.(3187-3189)cCt>cAt	p.P1063H	TENM2_ENST00000545108.1_Missense_Mutation_p.P1063H|TENM2_ENST00000403607.2_Missense_Mutation_p.P887H|TENM2_ENST00000520394.1_Missense_Mutation_p.P831H|TENM2_ENST00000519204.1_Missense_Mutation_p.P942H	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1063					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.P1063H(1)|p.P896H(1)|p.P942H(1)									ATCGAGCTCCCTGGTTCCAAT	0.498																																							uc010jjd.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(3160-3162)CCT>CAT		odz, odd Oz/ten-m homolog 2							164.0	158.0	160.0					5																	167626894		1937	4155	6092	SO:0001583	missense	57451							g.chr5:167626894C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3188C>A	5.37:g.167626894C>A	ENSP00000429430:p.Pro1063His					ODZ2_uc003lzr.3_Missense_Mutation_p.P831H|ODZ2_uc003lzt.3_Missense_Mutation_p.P427H|ODZ2_uc010jje.2_Missense_Mutation_p.P325H	p.P1054H	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	17	3161	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3161C>A		.	.	.	.	.	.	.	.	.	.	C	22.1	4.243761	0.79912	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90844	-2.25;-2.25;-2.36;-2.71;-2.74	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.96009	0.8700	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.987;0.998	D	0.96726	0.9536	10	0.87932	D	0	.	18.4354	0.90643	0.0:1.0:0.0:0.0	.	1063;1063;831	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	H	1063;1063;942;831;887	ENSP00000429430:P1063H;ENSP00000438635:P1063H;ENSP00000428964:P942H;ENSP00000427874:P831H;ENSP00000384905:P887H	ENSP00000384905:P887H	P	+	2	0	ODZ2	167559472	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.338000	0.79540	0.561000	0.74099	CCT		0.498	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		27	171	1	0	1.7881e-09	0.008361	2.62546e-09	27	171				
NPM1	4869	broad.mit.edu	37	5	170819787	170819787	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:170819787G>T	ENST00000296930.5	+	5	727	c.426G>T	c.(424-426)cgG>cgT	p.R142R	NPM1_ENST00000351986.6_Silent_p.R142R|NPM1_ENST00000393820.2_Silent_p.R142R|NPM1_ENST00000517671.1_Silent_p.R142R	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	142	Required for interaction with SENP3.				cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.R142R(2)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGGAAAGCGGTCTGCCCCTG	0.393			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																		uc011dex.1		NA		Dom	yes		5	5q35	4869	T|F 	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""			L	ALK|RARA|MLF1		NHL|APL|AML	NPM1/ALK(632)	2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(3109)|skin(1)	3110						c.(424-426)CGG>CGT		nucleophosmin 1 isoform 1							120.0	140.0	133.0					5																	170819787		2202	4300	6502	SO:0001819	synonymous_variant	4869				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	g.chr5:170819787G>T	M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.426G>T	5.37:g.170819787G>T						NPM1_uc003mbh.2_Silent_p.R142R|NPM1_uc003mbi.2_Silent_p.R142R|NPM1_uc003mbj.2_Silent_p.R142R	p.R142R	NM_002520	NP_002511	P06748	NPM_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		6	561	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	142			Required for interaction with SENP3.		A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Silent	SNP	ENST00000296930.5	37	c.426G>T	CCDS4376.1																																																																																				0.393	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520		16	107	1	0	1.45105e-14	0.006122	2.32735e-14	16	107				
ZNF454	285676	broad.mit.edu	37	5	178392158	178392158	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:178392158G>T	ENST00000320129.3	+	5	1056	c.753G>T	c.(751-753)aaG>aaT	p.K251N	ZNF454_ENST00000519564.1_Missense_Mutation_p.K251N	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K251N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AATGTGGCAAGGCCTTCTCAG	0.428																																							uc003mjo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(751-753)AAG>AAT		zinc finger protein 454							93.0	97.0	96.0					5																	178392158		2203	4300	6503	SO:0001583	missense	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392158G>T	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.753G>T	5.37:g.178392158G>T	ENSP00000326249:p.Lys251Asn					ZNF454_uc010jkz.1_Missense_Mutation_p.K251N	p.K251N	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	1024	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	251			C2H2-type 3.		Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	c.753G>T	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989214	0.53934	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.27890	1.64;1.64	4.46	3.49	0.39957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41500	D	0.000869	T	0.51686	0.1689	M	0.93808	3.46	0.34538	D	0.709977	D	0.53885	0.963	P	0.55303	0.773	T	0.65533	-0.6145	10	0.62326	D	0.03	-22.4484	3.9742	0.09467	0.3795:0.0:0.6205:0.0	.	251	Q8N9F8	ZN454_HUMAN	N	251	ENSP00000326249:K251N;ENSP00000430354:K251N	ENSP00000326249:K251N	K	+	3	2	ZNF454	178324764	0.629000	0.27146	1.000000	0.80357	0.973000	0.67179	1.585000	0.36600	1.099000	0.41499	0.555000	0.69702	AAG		0.428	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		13	91	1	0	0.000151284	0.001855	0.000180462	13	91				
HIST1H1T	3010	broad.mit.edu	37	6	26108121	26108121	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:26108121C>G	ENST00000338379.4	-	1	243	c.201G>C	c.(199-201)aaG>aaC	p.K67N		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	67	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K67N(1)		breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CCAATGCCTTCTTGAGCGCAA	0.517																																							uc003ngj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(199-201)AAG>AAC		histone cluster 1, H1t							135.0	119.0	124.0					6																	26108121		2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26108121C>G	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.201G>C	6.37:g.26108121C>G	ENSP00000341214:p.Lys67Asn						p.K67N	NM_005323	NP_005314	P22492	H1T_HUMAN			1	244	-			67			H15.		Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.201G>C	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	14.27	2.484199	0.44147	.	.	ENSG00000187475	ENST00000338379	T	0.15487	2.42	5.35	3.48	0.39840	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.39462	0.1079	M	0.93854	3.465	0.48135	D	0.999594	D	0.89917	1.0	D	0.97110	1.0	T	0.52132	-0.8616	10	0.87932	D	0	-15.8505	10.7629	0.46274	0.0:0.8402:0.0:0.1598	.	67	P22492	H1T_HUMAN	N	67	ENSP00000341214:K67N	ENSP00000341214:K67N	K	-	3	2	HIST1H1T	26216100	1.000000	0.71417	0.996000	0.52242	0.019000	0.09904	3.201000	0.51059	0.745000	0.32763	-0.140000	0.14226	AAG		0.517	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		27	66	0	0	0	0.007291	0	27	66				
HIST1H2AC	8334	broad.mit.edu	37	6	26124671	26124671	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:26124671G>A	ENST00000602637.1	+	1	241	c.211G>A	c.(211-213)Gct>Act	p.A71T	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.A71T|HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2BC_ENST00000314332.5_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	71						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A71T(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CGGCAACGCGGCTCGCGACAA	0.647																																							uc003ngm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(211-213)GCT>ACT		histone cluster 1, H2ac							83.0	80.0	81.0					6																	26124671		2203	4300	6503	SO:0001583	missense	8334				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26124671G>A	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.211G>A	6.37:g.26124671G>A	ENSP00000473534:p.Ala71Thr					HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.A71T	p.A71T	NM_003512	NP_003503	Q93077	H2A1C_HUMAN			1	299	+			71					B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	c.211G>A	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	33	5.238738	0.95240	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.73152	-0.72;-0.72	5.62	5.62	0.85841	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.44285	D	0.000478	D	0.87525	0.6199	H	0.94222	3.51	0.52501	D	0.99995	D	0.76494	0.999	D	0.69654	0.965	D	0.90088	0.4175	10	0.87932	D	0	.	19.0063	0.92852	0.0:0.0:1.0:0.0	.	71	Q93077	H2A1C_HUMAN	T	71	ENSP00000367022:A71T;ENSP00000321389:A71T	ENSP00000321389:A71T	A	+	1	0	HIST1H2AC	26232650	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.610000	0.98337	2.809000	0.96659	0.467000	0.42956	GCT		0.647	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		11	34	0	0	0	0.001368	0	11	34				
OR2B2	81697	broad.mit.edu	37	6	27879654	27879654	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:27879654G>T	ENST00000303324.2	-	1	520	c.444C>A	c.(442-444)tcC>tcA	p.S148S		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S148S(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CACTAATCCAGGATGCAGCTG	0.468																																							uc011dkw.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(442-444)TCC>TCA		olfactory receptor, family 2, subfamily B,							78.0	76.0	77.0					6																	27879654		2203	4300	6503	SO:0001819	synonymous_variant	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879654G>T	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.444C>A	6.37:g.27879654G>T							p.S148S	NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN			1	444	-			148			Helical; Name=4; (Potential).		B2RNH2|Q9GZL2|Q9Y299	Silent	SNP	ENST00000303324.2	37	c.444C>A	CCDS4641.1																																																																																				0.468	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			11	59	1	0	0.00829132	0.008291	0.00897729	11	59				
GPX5	2880	broad.mit.edu	37	6	28499572	28499572	+	Missense_Mutation	SNP	G	G	C	rs149572375		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:28499572G>C	ENST00000412168.2	+	3	348	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	GPX5_ENST00000469384.1_Intron|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	87					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.E87K(1)|p.E87Q(1)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGCACTCCAGGAGGAGCTGAA	0.468																																							uc003nll.2		NA																	2	Substitution - Missense(2)	p.E87K(1)	lung(1)|skin(1)	skin(1)	1						c.(259-261)GAG>CAG		glutathione peroxidase 5 isoform 1 precursor	Glutathione(DB00143)						219.0	205.0	210.0					6																	28499572		2203	4300	6503	SO:0001583	missense	2880				lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28499572G>C	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.259G>C	6.37:g.28499572G>C	ENSP00000392398:p.Glu87Gln					GPX5_uc003nlm.2_Intron|GPX5_uc003nln.2_Intron	p.E87Q	NM_001509	NP_001500	O75715	GPX5_HUMAN			3	261	+			87					A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	c.259G>C	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022276	0.54683	.	.	ENSG00000224586	ENST00000412168	T	0.04015	3.73	3.88	3.88	0.44766	Thioredoxin-like fold (2);	0.573069	0.17788	N	0.161984	T	0.03178	0.0093	L	0.50333	1.59	0.80722	D	1	B	0.31435	0.323	B	0.35899	0.213	T	0.38394	-0.9663	10	0.40728	T	0.16	-11.4457	11.6415	0.51235	0.0:0.0:1.0:0.0	.	87	O75715	GPX5_HUMAN	Q	87	ENSP00000392398:E87Q	ENSP00000392398:E87Q	E	+	1	0	GPX5	28607551	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.429000	0.44758	2.471000	0.83476	0.561000	0.74099	GAG		0.468	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2			77	235	0	0	0	0.00361	0	77	235				
UBD	10537	broad.mit.edu	37	6	29523866	29523866	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:29523866C>G	ENST00000377050.4	-	2	512	c.289G>C	c.(289-291)Gat>Cat	p.D97H	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	97	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)	p.D97H(1)		kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TTTGCCTCATCACCTGACTCC	0.512																																							uc003nmo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(289-291)GAT>CAT		ubiquitin D							89.0	89.0	89.0					6																	29523866		1511	2709	4220	SO:0001583	missense	10537				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding	g.chr6:29523866C>G	Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.289G>C	6.37:g.29523866C>G	ENSP00000366249:p.Asp97His					GABBR1_uc003nmp.3_3'UTR	p.D97H	NM_006398	NP_006389	O15205	UBD_HUMAN			2	513	-			97			Ubiquitin 2.		B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	ENST00000377050.4	37	c.289G>C	CCDS4662.1	.	.	.	.	.	.	.	.	.	.	C	3.407	-0.121068	0.06838	.	.	ENSG00000213886	ENST00000377050	T	0.09911	2.93	5.17	0.974	0.19715	Ubiquitin supergroup (1);Ubiquitin (1);	1.065480	0.07541	U	0.913892	T	0.02610	0.0079	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.46555	-0.9183	10	0.87932	D	0	-9.4866	4.83	0.13435	0.0:0.5727:0.1601:0.2672	.	97	O15205	UBD_HUMAN	H	97	ENSP00000366249:D97H	ENSP00000366249:D97H	D	-	1	0	UBD	29631845	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	-0.171000	0.09883	0.534000	0.28695	0.609000	0.83330	GAT		0.512	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076628.3			9	32	0	0	0	0.006214	0	9	32				
PRRT1	80863	broad.mit.edu	37	6	32117104	32117104	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:32117104G>T	ENST00000211413.5	-	4	940	c.816C>A	c.(814-816)tcC>tcA	p.S272S	PRRT1_ENST00000375152.2_Silent_p.S191S|PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375150.2_Silent_p.S191S	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	272					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.S272S(1)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GGGAGATGAAGGAGAAGTTCC	0.647																																							uc003nzt.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(814-816)TCC>TCA		NG5 protein							37.0	34.0	35.0					6																	32117104		1509	2707	4216	SO:0001819	synonymous_variant	80863				response to biotic stimulus	integral to membrane		g.chr6:32117104G>T	AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"""Proline-rich transmembrane proteins"""	13943	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 7"""		"""chromosome 6 open reading frame 31"""	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.816C>A	6.37:g.32117104G>T						PRRT1_uc003nzs.2_Silent_p.S313S|PRRT1_uc003nzu.2_Missense_Mutation_p.L165I	p.S272S	NM_030651	NP_085154	Q99946	PRRT1_HUMAN			4	932	-			272					A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Silent	SNP	ENST00000211413.5	37	c.816C>A	CCDS4739.1																																																																																				0.647	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076255.2	NM_030651		8	13	1	0	2.17888e-05	0.006214	2.74029e-05	8	13				
DNAH8	1769	broad.mit.edu	37	6	38854628	38854628	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:38854628C>A	ENST00000359357.3	+	55	7924	c.7670C>A	c.(7669-7671)cCt>cAt	p.P2557H	DNAH8_ENST00000449981.2_Missense_Mutation_p.P2774H|DNAH8_ENST00000441566.1_Missense_Mutation_p.P2521H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2557	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P2557H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGGACAAGCCTGGAGACTTC	0.388																																							uc003ooe.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(7669-7671)CCT>CAT		dynein, axonemal, heavy polypeptide 8							159.0	146.0	150.0					6																	38854628		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38854628C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7670C>A	6.37:g.38854628C>A	ENSP00000352312:p.Pro2557His						p.P2557H	NM_001371	NP_001362					55	8270	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7670C>A		.	.	.	.	.	.	.	.	.	.	C	28.9	4.962850	0.92791	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.35236	1.32;1.32;1.32	5.79	5.79	0.91817	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.67590	0.2909	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73927	-0.3828	10	0.52906	T	0.07	.	20.0366	0.97561	0.0:1.0:0.0:0.0	.	2557	Q96JB1	DYH8_HUMAN	H	2762;2762;2557;2521	ENSP00000333363:P2762H;ENSP00000352312:P2557H;ENSP00000402294:P2521H	ENSP00000333363:P2762H	P	+	2	0	DNAH8	38962606	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.729000	0.84864	2.736000	0.93811	0.561000	0.74099	CCT		0.388	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		10	71	1	0	3.86212e-05	0.008291	4.77085e-05	10	71				
RPL7L1	285855	broad.mit.edu	37	6	42851245	42851245	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:42851245C>T	ENST00000493763.1	+	3	480	c.177C>T	c.(175-177)tcC>tcT	p.S59S	RPL7L1_ENST00000304734.5_Silent_p.S59S|RPL7L1_ENST00000424341.2_Silent_p.S59S|RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000602561.1_Silent_p.S59S	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	59						ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)	p.S59S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			TACATGATTCCTGGCGGCAGA	0.468																																							uc003osq.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(175-177)TCC>TCT		ribosomal protein L7-like 1							99.0	100.0	100.0					6																	42851245		2203	4297	6500	SO:0001819	synonymous_variant	285855				translation	large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr6:42851245C>T		CCDS4873.1	6p21.1	2011-01-14			ENSG00000146223	ENSG00000146223		"""L ribosomal proteins"""	21370	protein-coding gene	gene with protein product							Standard	NM_198486		Approved	dJ475N16.4	uc003osq.1	Q6DKI1	OTTHUMG00000014710	ENST00000493763.1:c.177C>T	6.37:g.42851245C>T						RPL7L1_uc011dux.1_Silent_p.S59S|RPL7L1_uc010jxw.1_5'UTR|RPL7L1_uc003osr.1_5'UTR|RPL7L1_uc011duy.1_Silent_p.S59S|RPL7L1_uc003oss.1_5'UTR|RPL7L1_uc003ost.2_Silent_p.S59S|RPL7L1_uc003osu.2_RNA	p.S59S	NM_198486	NP_940888	Q6DKI1	RL7L_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)		3	182	+	Colorectal(47;0.196)		59					A8K7D4|B7Z652|Q5TFZ5|Q6PEK3	Silent	SNP	ENST00000493763.1	37	c.177C>T	CCDS4873.1																																																																																				0.468	RPL7L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314417.1	XM_209769		5	72	0	0	0	0.000602	0	5	72				
CUL9	23113	broad.mit.edu	37	6	43182863	43182863	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:43182863G>T	ENST00000252050.4	+	30	5819	c.5735G>T	c.(5734-5736)gGc>gTc	p.G1912V	CUL9_ENST00000372647.2_Missense_Mutation_p.G1884V|CUL9_ENST00000354495.3_Missense_Mutation_p.G1802V|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1912					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.G1912V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGAACCCTGGGCCACACTGTT	0.567																																							uc003ouk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(5734-5736)GGC>GTC		p53-associated parkin-like cytoplasmic protein							98.0	101.0	100.0					6																	43182863		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43182863G>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5735G>T	6.37:g.43182863G>T	ENSP00000252050:p.Gly1912Val					CUL9_uc003oul.2_Missense_Mutation_p.G1884V|CUL9_uc010jyk.2_Missense_Mutation_p.G1064V|CUL9_uc003oun.2_5'UTR	p.G1912V	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			30	5810	+			1912					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.5735G>T	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	7.986	0.752294	0.15778	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.71817	-0.6;-0.6;-0.47	4.81	4.81	0.61882	Cullin protein, neddylation domain (1);	0.145674	0.48767	D	0.000180	T	0.58538	0.2129	N	0.20530	0.585	0.80722	D	1	D;P;P	0.67145	0.996;0.473;0.473	P;B;B	0.62740	0.906;0.13;0.13	T	0.58929	-0.7549	10	0.27785	T	0.31	-26.8028	9.75	0.40470	0.0782:0.143:0.7788:0.0	.	1802;1884;1912	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	V	1912;1802;1884	ENSP00000252050:G1912V;ENSP00000346490:G1802V;ENSP00000361730:G1884V	ENSP00000252050:G1912V	G	+	2	0	CUL9	43290841	0.820000	0.29190	0.984000	0.44739	0.901000	0.52897	1.028000	0.30128	2.492000	0.84095	0.655000	0.94253	GGC		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		15	113	1	0	0.000422831	0.004007	0.000489509	15	113				
TMEM63B	55362	broad.mit.edu	37	6	44107259	44107259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:44107259C>T	ENST00000259746.9	+	7	646	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	TMEM63B_ENST00000527188.1_3'UTR|TMEM63B_ENST00000323267.6_Nonsense_Mutation_p.Q155*			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	155					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.Q155*(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCTGTCCTTTCAGCGGCACAT	0.597																																							uc003owr.2		NA																	1	Substitution - Nonsense(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(463-465)CAG>TAG		transmembrane protein 63B							145.0	112.0	123.0					6																	44107259		2203	4300	6503	SO:0001587	stop_gained	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44107259C>T	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.463C>T	6.37:g.44107259C>T	ENSP00000259746:p.Gln155*					TMEM63B_uc003owq.1_Nonsense_Mutation_p.Q155*|TMEM63B_uc010jyy.1_Nonsense_Mutation_p.Q58*|TMEM63B_uc003ows.2_Nonsense_Mutation_p.Q58*|TMEM63B_uc010jyz.2_5'Flank	p.Q155*	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		7	527	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		155					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Nonsense_Mutation	SNP	ENST00000259746.9	37	c.463C>T	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	C	35	5.425277	0.96131	.	.	ENSG00000137216	ENST00000259746;ENST00000532634;ENST00000323267	.	.	.	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.4147	0.83730	0.0:1.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000259746:Q155X	Q	+	1	0	TMEM63B	44215237	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.596000	0.82721	2.356000	0.79943	0.561000	0.74099	CAG		0.597	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		8	42	0	0	0	0.004482	0	8	42				
PGK2	5232	broad.mit.edu	37	6	49753978	49753978	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:49753978G>A	ENST00000304801.3	-	1	1075	c.923C>T	c.(922-924)tCt>tTt	p.S308F		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	308					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.S308F(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCAGCCAGGAGATATGCCAGA	0.463																																							uc003ozu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(922-924)TCT>TTT		phosphoglycerate kinase 2							142.0	142.0	142.0					6																	49753978		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49753978G>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.923C>T	6.37:g.49753978G>A	ENSP00000305995:p.Ser308Phe						p.S308F	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	1030	-	Lung NSC(77;0.0402)		308					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.923C>T	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190216	0.38707	.	.	ENSG00000170950	ENST00000304801	D	0.92249	-3.0	4.19	4.19	0.49359	Phosphoglycerate kinase, C-terminal (1);	0.104900	0.64402	D	0.000003	D	0.88299	0.6399	L	0.34521	1.04	0.28071	N	0.932576	P	0.39443	0.674	P	0.49477	0.612	D	0.84799	0.0783	10	0.87932	D	0	-4.5936	14.804	0.69938	0.0:0.0:1.0:0.0	.	308	P07205	PGK2_HUMAN	F	308	ENSP00000305995:S308F	ENSP00000305995:S308F	S	-	2	0	PGK2	49861937	1.000000	0.71417	0.136000	0.22124	0.089000	0.18198	7.050000	0.76620	2.619000	0.88677	0.585000	0.79938	TCT		0.463	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			12	190	0	0	0	0.001855	0	12	190				
PKHD1	5314	broad.mit.edu	37	6	51612989	51612989	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:51612989G>T	ENST00000371117.3	-	58	9700	c.9425C>A	c.(9424-9426)aCc>aAc	p.T3142N	PKHD1_ENST00000340994.4_Missense_Mutation_p.T3142N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3142					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.T3142N(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGAGATTCTGGTACAGTTGTC	0.438																																							uc003pah.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(9424-9426)ACC>AAC		fibrocystin isoform 1							184.0	195.0	191.0					6																	51612989		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51612989G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9425C>A	6.37:g.51612989G>T	ENSP00000360158:p.Thr3142Asn					PKHD1_uc010jzn.1_Missense_Mutation_p.T1125N|PKHD1_uc003pai.2_Missense_Mutation_p.T3142N	p.T3142N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			58	9701	-	Lung NSC(77;0.0605)		3142			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9425C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647601	0.67358	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.80123	-1.34;-1.27	5.86	5.86	0.93980	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	M	0.75447	2.3	0.39195	D	0.963047	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.985;0.999	D	0.88829	0.3304	10	0.66056	D	0.02	.	19.1901	0.93663	0.0:0.0:1.0:0.0	.	3142;3142;3142	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	N	3142	ENSP00000360158:T3142N;ENSP00000341097:T3142N	ENSP00000341097:T3142N	T	-	2	0	PKHD1	51720948	1.000000	0.71417	0.897000	0.35233	0.597000	0.36814	6.432000	0.73400	2.776000	0.95493	0.655000	0.94253	ACC		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		48	282	1	0	6.08268e-21	0.00361	1.01905e-20	48	282				
GCLC	2729	broad.mit.edu	37	6	53363677	53363677	+	Missense_Mutation	SNP	C	C	T	rs372056100		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:53363677C>T	ENST00000229416.6	-	16	2274	c.1791G>A	c.(1789-1791)atG>atA	p.M597I		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	597					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)	p.M597I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	GGCTATAATTCATTTCATCAG	0.388																																							uc003pbw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1789-1791)ATG>ATA		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						147.0	134.0	139.0					6																	53363677		2203	4300	6503	SO:0001583	missense	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53363677C>T	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1791G>A	6.37:g.53363677C>T	ENSP00000229416:p.Met597Ile					GCLC_uc003pbv.1_Missense_Mutation_p.M321I	p.M597I	NM_001498	NP_001489	P48506	GSH1_HUMAN			16	2179	-	Lung NSC(77;0.0137)		597					Q14399	Missense_Mutation	SNP	ENST00000229416.6	37	c.1791G>A	CCDS4952.1	.	.	.	.	.	.	.	.	.	.	C	3.635	-0.074761	0.07184	.	.	ENSG00000001084	ENST00000229416	T	0.63913	-0.07	5.68	1.65	0.23941	.	0.252935	0.53938	N	0.000058	T	0.05777	0.0151	N	0.00134	-2.025	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46442	-0.9191	10	0.02654	T	1	.	8.7802	0.34787	0.0:0.5202:0.3472:0.1326	.	597	P48506	GSH1_HUMAN	I	597	ENSP00000229416:M597I	ENSP00000229416:M597I	M	-	3	0	GCLC	53471636	0.582000	0.26749	1.000000	0.80357	0.971000	0.66376	-0.343000	0.07791	0.414000	0.25790	0.585000	0.79938	ATG		0.388	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			12	143	0	0	0	0.001855	0	12	143				
HCRTR2	3062	broad.mit.edu	37	6	55120106	55120106	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:55120106A>G	ENST00000370862.3	+	3	911	c.575A>G	c.(574-576)gAg>gGg	p.E192G		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	192					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.E192G(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATCGTCATGGAGTGCAGCACC	0.498																																							uc003pcl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(574-576)GAG>GGG		orexin receptor 2							162.0	134.0	144.0					6																	55120106		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55120106A>G	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.575A>G	6.37:g.55120106A>G	ENSP00000359899:p.Glu192Gly					HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.E127G	p.E192G	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		3	890	+	Lung NSC(77;0.107)|Renal(3;0.122)		192			Helical; Name=4; (Potential).		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.575A>G	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234488	0.58886	.	.	ENSG00000137252	ENST00000370862	T	0.72051	-0.62	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	L	0.39692	1.235	0.80722	D	1	P;P	0.43352	0.804;0.804	P;P	0.51297	0.665;0.665	T	0.66200	-0.5983	10	0.40728	T	0.16	.	15.0444	0.71816	1.0:0.0:0.0:0.0	.	192;192	Q548Y0;O43614	.;OX2R_HUMAN	G	192	ENSP00000359899:E192G	ENSP00000359899:E192G	E	+	2	0	HCRTR2	55228065	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	8.962000	0.93254	1.969000	0.57287	0.397000	0.26171	GAG		0.498	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			6	56	0	0	0	0.001168	0	6	56				
GFRAL	389400	broad.mit.edu	37	6	55198740	55198740	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:55198740C>T	ENST00000340465.2	+	3	400	c.314C>T	c.(313-315)tCa>tTa	p.S105L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	105					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S105L(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATCAATAAATCAGGTAATATT	0.269																																							uc003pcm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(313-315)TCA>TTA		GDNF family receptor alpha like precursor							70.0	76.0	74.0					6																	55198740		2203	4298	6501	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55198740C>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.314C>T	6.37:g.55198740C>T	ENSP00000343636:p.Ser105Leu						p.S105L	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		3	400	+	Lung NSC(77;0.0875)|Renal(3;0.122)		105			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.314C>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.194536	0.38806	.	.	ENSG00000187871	ENST00000340465	T	0.32023	1.47	5.13	5.13	0.70059	.	9.035750	0.00357	N	0.000027	T	0.22166	0.0534	L	0.51422	1.61	0.53005	D	0.99996	B	0.27450	0.179	B	0.24974	0.057	T	0.10776	-1.0615	10	0.56958	D	0.05	-33.5881	14.1013	0.65056	0.0:1.0:0.0:0.0	.	105	Q6UXV0	GFRAL_HUMAN	L	105	ENSP00000343636:S105L	ENSP00000343636:S105L	S	+	2	0	GFRAL	55306699	1.000000	0.71417	0.982000	0.44146	0.357000	0.29423	2.613000	0.46351	2.364000	0.80123	0.655000	0.94253	TCA		0.269	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		9	63	0	0	0	0.001368	0	9	63				
DST	667	broad.mit.edu	37	6	56492813	56492813	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:56492813T>A	ENST00000361203.3	-	29	3996	c.3989A>T	c.(3988-3990)cAg>cTg	p.Q1330L	DST_ENST00000312431.6_Missense_Mutation_p.Q1330L|DST_ENST00000370788.2_Missense_Mutation_p.Q1330L|DST_ENST00000370754.5_Missense_Mutation_p.Q1508L|DST_ENST00000446842.2_Missense_Mutation_p.Q1004L|DST_ENST00000370769.4_Missense_Mutation_p.Q1330L|DST_ENST00000244364.6_Missense_Mutation_p.Q1004L|DST_ENST00000518935.1_Missense_Mutation_p.Q1004L|DST_ENST00000370765.6_Missense_Mutation_p.Q1004L|DST_ENST00000421834.2_Missense_Mutation_p.Q1330L			Q03001	DYST_HUMAN	dystonin	1330					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.Q1004L(3)|p.Q1330L(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTGATTCAACTGTGTGGCTAG	0.388																																							uc003pdf.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(4522-4524)CAG>CTG		dystonin isoform 2							157.0	147.0	150.0					6																	56492813		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56492813T>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3989A>T	6.37:g.56492813T>A	ENSP00000354508:p.Gln1330Leu					DST_uc003pcz.3_Missense_Mutation_p.Q1330L|DST_uc011dxj.1_Missense_Mutation_p.Q1359L|DST_uc011dxk.1_Missense_Mutation_p.Q1370L|DST_uc003pcy.3_Missense_Mutation_p.Q1004L|DST_uc003pdb.2_Missense_Mutation_p.Q1004L|DST_uc003pdc.3_Missense_Mutation_p.Q1004L|DST_uc003pdd.3_Missense_Mutation_p.Q1004L	p.Q1508L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		32	4551	-	Lung NSC(77;0.103)		1330					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.4523A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.67|17.67	3.446554|3.446554	0.63178|0.63178	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935|ENST00000522360	T;T;T;T;T;T;T;T;T;T;T;T|.	0.30981|.	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.49305|.	D|.	0.000148|.	T|T	0.53642|0.53642	0.1809|0.1809	L|L	0.51422|0.51422	1.61|1.61	0.28455|.	N|.	0.916148|.	B;D;B;B;B;P;B;B|.	0.59357|.	0.002;0.985;0.002;0.054;0.328;0.678;0.002;0.016|.	B;P;B;B;B;P;B;B|.	0.50537|.	0.002;0.643;0.002;0.028;0.108;0.519;0.002;0.026|.	T|T	0.54774|0.54774	-0.8243|-0.8243	9|4	0.19147|.	T|.	0.46|.	.|.	15.8296|15.8296	0.78741|0.78741	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1330;1330;1508;1004;1004;1004;1330;1004|.	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8|.	.;.;.;.;.;.;DYST_HUMAN;.|.	L|C	1004;1508;1330;1330;1004;1330;1330;1330;1004;1370;1004;1004|2	ENSP00000244364:Q1004L;ENSP00000359790:Q1508L;ENSP00000359805:Q1330L;ENSP00000400883:Q1330L;ENSP00000393645:Q1004L;ENSP00000307959:Q1330L;ENSP00000359824:Q1330L;ENSP00000354508:Q1330L;ENSP00000404924:Q1004L;ENSP00000431030:Q1370L;ENSP00000359801:Q1004L;ENSP00000431003:Q1004L|.	ENSP00000244364:Q1004L|.	Q|S	-|-	2|1	0|0	DST|DST	56600772|56600772	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	4.794000|4.794000	0.62482|0.62482	2.182000|2.182000	0.69389|0.69389	0.528000|0.528000	0.53228|0.53228	CAG|AGT		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		16	81	0	0	0	0.006122	0	16	81				
ZNF451	26036	broad.mit.edu	37	6	57012630	57012630	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:57012630G>T	ENST00000370706.4	+	10	1991	c.1747G>T	c.(1747-1749)Gct>Tct	p.A583S	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.A583S|ZNF451_ENST00000491832.2_Missense_Mutation_p.A583S|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A583S(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TAATTTGACTGCTAACAAGCC	0.388																																							uc003pdm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1747-1749)GCT>TCT		zinc finger protein 451 isoform 1							127.0	126.0	126.0					6																	57012630		2203	4299	6502	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57012630G>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1747G>T	6.37:g.57012630G>T	ENSP00000359740:p.Ala583Ser					ZNF451_uc003pdl.2_Missense_Mutation_p.A583S|ZNF451_uc003pdn.1_Missense_Mutation_p.A583S|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.A583S	p.A583S	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	1971	+	Lung NSC(77;0.145)		583					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.1747G>T	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	5.728	0.318775	0.10845	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.18174	2.23;2.24;2.24	4.89	1.83	0.25207	.	1.028630	0.07692	N	0.938943	T	0.05456	0.0144	L	0.36672	1.1	0.18873	N	0.999982	B;B;B;B	0.23249	0.082;0.062;0.012;0.062	B;B;B;B	0.21708	0.036;0.033;0.005;0.033	T	0.42498	-0.9448	10	0.29301	T	0.29	-0.7852	11.4384	0.50081	0.2335:0.0:0.7665:0.0	.	583;583;583;583	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	S	583	ENSP00000359740:A583S;ENSP00000350083:A583S;ENSP00000421645:A583S	ENSP00000350083:A583S	A	+	1	0	ZNF451	57120589	0.000000	0.05858	0.074000	0.20217	0.414000	0.31173	0.197000	0.17197	0.625000	0.30304	0.650000	0.86243	GCT		0.388	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		8	104	1	0	0.00307968	0.00308	0.00339969	8	104				
LGSN	51557	broad.mit.edu	37	6	63990290	63990290	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:63990290T>C	ENST00000370657.4	-	4	1199	c.1166A>G	c.(1165-1167)aAc>aGc	p.N389S	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	389					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.N389S(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TATACAGCTGTTGTCATTGTA	0.463																																							uc003peh.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1165-1167)AAC>AGC		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						169.0	169.0	169.0					6																	63990290		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990290T>C	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1166A>G	6.37:g.63990290T>C	ENSP00000359691:p.Asn389Ser					LGSN_uc003pei.2_3'UTR	p.N389S	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	1200	-			389					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.1166A>G	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.417032	0.42918	.	.	ENSG00000146166	ENST00000370657	D	0.85773	-2.03	5.96	5.96	0.96718	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89979	0.6872	M	0.72479	2.2	0.80722	D	1	D	0.63046	0.992	D	0.68483	0.958	D	0.91313	0.5076	10	0.87932	D	0	-35.6202	15.6296	0.76893	0.0:0.0:0.0:1.0	.	389	Q5TDP6	LGSN_HUMAN	S	389	ENSP00000359691:N389S	ENSP00000359691:N389S	N	-	2	0	LGSN	64048249	1.000000	0.71417	0.995000	0.50966	0.050000	0.14768	5.976000	0.70484	2.285000	0.76669	0.533000	0.62120	AAC		0.463	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		33	181	0	0	0	0.004878	0	33	181				
RIMS1	22999	broad.mit.edu	37	6	72947557	72947557	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:72947557G>T	ENST00000521978.1	+	9	1889	c.1889G>T	c.(1888-1890)cGa>cTa	p.R630L	RIMS1_ENST00000522291.1_Missense_Mutation_p.R630L|RIMS1_ENST00000523963.1_Missense_Mutation_p.R104L|RIMS1_ENST00000264839.7_Missense_Mutation_p.R630L|RIMS1_ENST00000348717.5_Missense_Mutation_p.R630L|RIMS1_ENST00000401910.3_Missense_Mutation_p.R104L|RIMS1_ENST00000425662.2_Missense_Mutation_p.R23L|RIMS1_ENST00000517960.1_Missense_Mutation_p.R630L|RIMS1_ENST00000517827.1_Missense_Mutation_p.R89L|RIMS1_ENST00000491071.2_Missense_Mutation_p.R630L|RIMS1_ENST00000520567.1_Missense_Mutation_p.R630L|RIMS1_ENST00000518273.1_Missense_Mutation_p.R630L	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	630	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.R630L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GACTTAGGACGACTTGGTGCT	0.343																																							uc003pga.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(1888-1890)CGA>CTA		regulating synaptic membrane exocytosis 1							103.0	99.0	100.0					6																	72947557		1851	4089	5940	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72947557G>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1889G>T	6.37:g.72947557G>T	ENSP00000428417:p.Arg630Leu					RIMS1_uc011dyb.1_Missense_Mutation_p.R256L|RIMS1_uc003pgc.2_Missense_Mutation_p.R256L|RIMS1_uc010kaq.2_Missense_Mutation_p.R104L|RIMS1_uc011dyc.1_Missense_Mutation_p.R104L|RIMS1_uc010kar.2_Missense_Mutation_p.R23L|RIMS1_uc011dyd.1_Missense_Mutation_p.R89L|RIMS1_uc003pgb.3_Missense_Mutation_p.R256L|RIMS1_uc010kas.1_Missense_Mutation_p.R89L	p.R630L	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			9	1966	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	630			PDZ.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.1889G>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971796	0.92919	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827	T;T;T;T;T;T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	4.94	4.94	0.65067	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000006	T	0.51907	0.1702	L	0.52206	1.635	0.80722	D	1	B;D;D;D;D;D;D	0.76494	0.219;0.995;0.979;0.994;0.999;0.994;0.994	P;D;D;D;D;D;D	0.91635	0.567;0.998;0.971;0.997;0.999;0.979;0.997	T	0.50550	-0.8815	10	0.44086	T	0.13	-11.8349	18.1582	0.89700	0.0:0.0:1.0:0.0	.	89;104;630;89;104;630;630	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5	.;.;.;.;.;.;RIMS1_HUMAN	L	630;630;630;630;630;630;630;630;630;630;630;630;104;104;23;23;89	ENSP00000430101:R630L;ENSP00000275037:R630L;ENSP00000264839:R630L;ENSP00000429959:R630L;ENSP00000430408:R630L;ENSP00000430502:R630L;ENSP00000430932:R630L;ENSP00000428417:R630L;ENSP00000385649:R104L;ENSP00000428328:R104L;ENSP00000411235:R23L;ENSP00000389503:R23L;ENSP00000428367:R89L	ENSP00000264839:R630L	R	+	2	0	RIMS1	73004278	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.864000	0.99589	2.294000	0.77228	0.491000	0.48974	CGA		0.343	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			6	45	1	0	8.12818e-05	0.001984	9.7994e-05	6	45				
OOEP	441161	broad.mit.edu	37	6	74079496	74079496	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:74079496G>C	ENST00000370359.5	-	1	19	c.20C>G	c.(19-21)gCc>gGc	p.A7G	OOEP_ENST00000370363.1_Intron|OOEP-AS1_ENST00000445350.2_RNA	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	7					cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)	p.A7G(1)		large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GGACTCAGCGGCACCAGCATC	0.667																																							uc003pgu.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(19-21)GCC>GGC		oocyte expressed protein homolog							44.0	54.0	51.0					6																	74079496		2135	4257	6392	SO:0001583	missense	441161					cytoplasm		g.chr6:74079496G>C	BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"""KH homology domain containing 2"""	611689	"""chromosome 6 open reading frame 156"", ""oocyte expressed protein homolog (dog)"""	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370359.5:c.20C>G	6.37:g.74079496G>C	ENSP00000359384:p.Ala7Gly					OOEP_uc003pgv.3_Intron	p.A7G	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN			1	20	-			7					A6NIN5|A9UIB7	Missense_Mutation	SNP	ENST00000370359.5	37	c.20C>G	CCDS47451.1	.	.	.	.	.	.	.	.	.	.	G	9.585	1.124592	0.20959	.	.	ENSG00000203907	ENST00000370359	T	0.13307	2.6	3.75	-0.146	0.13432	.	.	.	.	.	T	0.02193	0.0068	N	0.24115	0.695	0.09310	N	1	B	0.21225	0.053	B	0.20767	0.031	T	0.45411	-0.9263	9	0.52906	T	0.07	.	1.0103	0.01495	0.2115:0.1797:0.4242:0.1847	.	7	A6NGQ2	OOEP_HUMAN	G	7	ENSP00000359384:A7G	ENSP00000359384:A7G	A	-	2	0	OOEP	74136217	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.337000	0.07852	-0.049000	0.13379	0.655000	0.94253	GCC		0.667	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108414.2	NM_001080507		8	82	0	0	0	0.004482	0	8	82				
IBTK	25998	broad.mit.edu	37	6	82924239	82924239	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:82924239T>C	ENST00000306270.7	-	12	2458	c.1909A>G	c.(1909-1911)Aca>Gca	p.T637A	IBTK_ENST00000510291.1_Missense_Mutation_p.T637A|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	637	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.T637A(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CAAGTATCTGTGTATATAAAT	0.343																																							uc003pjl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1909-1911)ACA>GCA		inhibitor of Bruton's tyrosine kinase							61.0	60.0	61.0					6																	82924239		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82924239T>C	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1909A>G	6.37:g.82924239T>C	ENSP00000305721:p.Thr637Ala					IBTK_uc011dyv.1_Missense_Mutation_p.T637A|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Missense_Mutation_p.T331A|IBTK_uc003pjm.2_Missense_Mutation_p.T637A	p.T637A	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	12	2436	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	637			BTB 1.		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.1909A>G	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116847	0.77323	.	.	ENSG00000005700	ENST00000306270;ENST00000510291	T;T	0.71461	-0.57;-0.57	5.71	5.71	0.89125	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.094954	0.64402	D	0.000001	T	0.73606	0.3608	M	0.86651	2.83	0.51012	D	0.999905	D;P;D	0.54207	0.965;0.919;0.965	P;P;P	0.53006	0.715;0.578;0.715	T	0.75739	-0.3212	10	0.30854	T	0.27	-16.6681	11.123	0.48302	0.1377:0.0:0.0:0.8622	.	637;637;637	E7EPI0;Q9P2D0-2;Q9P2D0	.;.;IBTK_HUMAN	A	637	ENSP00000305721:T637A;ENSP00000426405:T637A	ENSP00000305721:T637A	T	-	1	0	IBTK	82980958	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.829000	0.69316	2.180000	0.69256	0.533000	0.62120	ACA		0.343	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		4	63	0	0	0	0.009096	0	4	63				
TPBG	7162	broad.mit.edu	37	6	83075585	83075585	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:83075585G>A	ENST00000369750.3	+	2	1524	c.907G>A	c.(907-909)Gca>Aca	p.A303T	TPBG_ENST00000543496.1_Missense_Mutation_p.A303T|TPBG_ENST00000535040.1_Missense_Mutation_p.A303T			Q13641	TPBG_HUMAN	trophoblast glycoprotein	303	LRRCT.				cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)		p.A303T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CTGCCACATGGCAGACATGGT	0.542																																							uc003pjn.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(907-909)GCA>ACA		trophoblast glycoprotein precursor							109.0	98.0	101.0					6																	83075585		2203	4300	6503	SO:0001583	missense	7162				cell adhesion	integral to plasma membrane		g.chr6:83075585G>A	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.907G>A	6.37:g.83075585G>A	ENSP00000358765:p.Ala303Thr					TPBG_uc010kbj.2_Missense_Mutation_p.A303T|TPBG_uc003pjo.2_Missense_Mutation_p.A303T	p.A303T	NM_006670	NP_006661	Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	3	1843	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	303			Extracellular (Potential).|LRRCT.		A8K555	Missense_Mutation	SNP	ENST00000369750.3	37	c.907G>A	CCDS4995.1	.	.	.	.	.	.	.	.	.	.	G	6.565	0.472591	0.12461	.	.	ENSG00000146242	ENST00000535040;ENST00000369750;ENST00000543496	T;T;T	0.02421	4.3;4.3;4.3	5.6	2.56	0.30785	Cysteine-rich flanking region, C-terminal (1);	2.473100	0.01745	N	0.029636	T	0.01287	0.0042	L	0.46947	1.48	0.34197	D	0.672701	B	0.09022	0.002	B	0.04013	0.001	T	0.38824	-0.9643	10	0.27082	T	0.32	-0.0091	6.9026	0.24291	0.1662:0.1427:0.6911:0.0	.	303	Q13641	TPBG_HUMAN	T	303	ENSP00000441219:A303T;ENSP00000358765:A303T;ENSP00000440049:A303T	ENSP00000358765:A303T	A	+	1	0	TPBG	83132304	0.721000	0.28007	0.600000	0.28864	0.271000	0.26615	1.892000	0.39748	0.642000	0.30620	0.650000	0.86243	GCA		0.542	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			12	53	0	0	0	0.000978	0	12	53				
GPR63	81491	broad.mit.edu	37	6	97246829	97246829	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:97246829T>A	ENST00000229955.3	-	2	1124	c.779A>T	c.(778-780)tAc>tTc	p.Y260F	GPR63_ENST00000417980.1_Missense_Mutation_p.Y260F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.Y260F(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		CATAAATGAGTACAGTATTAC	0.473																																							uc010kcl.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(778-780)TAC>TTC		G protein-coupled receptor 63							93.0	97.0	96.0					6																	97246829		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246829T>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.779A>T	6.37:g.97246829T>A	ENSP00000229955:p.Tyr260Phe					GPR63_uc003pou.2_Missense_Mutation_p.Y260F	p.Y260F	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	1257	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	260			Helical; Name=5; (Potential).		Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.779A>T	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.952656	0.34471	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.34667	1.35;1.35;1.35	5.2	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.14570	0.0352	L	0.27975	0.815	0.58432	D	0.999998	P	0.43578	0.811	P	0.48063	0.565	T	0.02766	-1.1113	10	0.07030	T	0.85	-6.6846	12.3187	0.54973	0.0:0.0:0.1416:0.8584	.	260	Q9BZJ6	GPR63_HUMAN	F	284;260;260;260	ENSP00000393170:Y260F;ENSP00000229955:Y260F;ENSP00000358273:Y260F	ENSP00000229955:Y260F	Y	-	2	0	GPR63	97353550	1.000000	0.71417	0.797000	0.32132	0.928000	0.56348	5.910000	0.69931	0.884000	0.36064	0.528000	0.53228	TAC		0.473	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			14	85	0	0	0	0.00499	0	14	85				
MMS22L	253714	broad.mit.edu	37	6	97597850	97597850	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:97597850T>C	ENST00000275053.4	-	24	3794	c.3529A>G	c.(3529-3531)Agc>Ggc	p.S1177G	MMS22L_ENST00000369251.2_Missense_Mutation_p.S1137G	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1177					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.S1177G(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCTAAAATGCTGTAAACCTGG	0.418																																							uc003ppb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3529-3531)AGC>GGC		hypothetical protein LOC253714							123.0	116.0	118.0					6																	97597850		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97597850T>C		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3529A>G	6.37:g.97597850T>C	ENSP00000275053:p.Ser1177Gly					C6orf167_uc011eaf.1_Missense_Mutation_p.S1137G	p.S1177G	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	24	3795	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	1177					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.3529A>G	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	T	6.342	0.431194	0.12045	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.32515	1.45;1.45	5.97	3.61	0.41365	.	0.463128	0.28482	N	0.015182	T	0.05914	0.0154	N	0.20685	0.6	0.30199	N	0.798797	B;B	0.10296	0.003;0.001	B;B	0.08055	0.002;0.003	T	0.35943	-0.9768	10	0.14252	T	0.57	-20.3895	8.207	0.31461	0.0:0.2124:0.0:0.7876	.	1137;1177	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	G	1177;1137	ENSP00000275053:S1177G;ENSP00000358254:S1137G	ENSP00000275053:S1177G	S	-	1	0	MMS22L	97704571	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	0.551000	0.23361	1.077000	0.40990	0.528000	0.53228	AGC		0.418	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		3	40	0	0	0	0.009096	0	3	40				
BEND3	57673	broad.mit.edu	37	6	107391909	107391909	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:107391909G>A	ENST00000369042.1	-	4	676	c.486C>T	c.(484-486)agC>agT	p.S162S	BEND3_ENST00000429433.2_Silent_p.S162S			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	162								p.S162S(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGGGGCTGTTGCTGGCGTTTG	0.572																																							uc003prs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(484-486)AGC>AGT		BEN domain containing 3							106.0	98.0	101.0					6																	107391909		2203	4300	6503	SO:0001819	synonymous_variant	57673							g.chr6:107391909G>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.486C>T	6.37:g.107391909G>A							p.S162S	NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN			5	1136	-			162					A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.486C>T	CCDS34507.1																																																																																				0.572	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		12	76	0	0	0	0.001855	0	12	76				
SCML4	256380	broad.mit.edu	37	6	108067985	108067985	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:108067985T>G	ENST00000369020.3	-	4	640	c.395A>C	c.(394-396)cAg>cCg	p.Q132P	SCML4_ENST00000479803.1_5'Flank|SCML4_ENST00000369022.2_Missense_Mutation_p.Q74P|SCML4_ENST00000369021.3_Missense_Mutation_p.Q103P	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q132P(1)|p.Q103P(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GACGGCCTGCTGCAGCACCGC	0.622																																							uc010kdf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(394-396)CAG>CCG		sex comb on midleg-like 4							48.0	49.0	49.0					6																	108067985		2203	4300	6503	SO:0001583	missense	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108067985T>G		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.395A>C	6.37:g.108067985T>G	ENSP00000358016:p.Gln132Pro					SCML4_uc003prz.3_Missense_Mutation_p.Q74P|SCML4_uc011eam.1_Missense_Mutation_p.Q132P|SCML4_uc003psa.3_Missense_Mutation_p.Q103P	p.Q132P	NM_198081	NP_932347	Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	4	646	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	132					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	c.395A>C	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377400	0.82682	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.98	4.98	0.66077	.	0.052569	0.85682	D	0.000000	T	0.63780	0.2540	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.995;0.988	T	0.69643	-0.5090	10	0.62326	D	0.03	.	14.8392	0.70212	0.0:0.0:0.0:1.0	.	132;132;103	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	P	74;132;103;103	ENSP00000358018:Q74P;ENSP00000358016:Q132P;ENSP00000358017:Q103P;ENSP00000404688:Q103P	ENSP00000358016:Q132P	Q	-	2	0	SCML4	108174678	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.448000	0.80631	2.093000	0.63338	0.460000	0.39030	CAG		0.622	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		10	57	0	0	0	0.006214	0	10	57				
SEC63	11231	broad.mit.edu	37	6	108224056	108224056	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:108224056G>A	ENST00000369002.4	-	12	1380	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	401	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.H401Y(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		ACCTTCTTATGATTAGAAACC	0.388																																							uc003psc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1201-1203)CAT>TAT		SEC63-like protein							116.0	126.0	122.0					6																	108224056		2203	4300	6503	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108224056G>A	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1201C>T	6.37:g.108224056G>A	ENSP00000357998:p.His401Tyr					SEC63_uc003psb.3_Missense_Mutation_p.H261Y	p.H401Y	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	12	1470	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	401			SEC63 1.|Cytoplasmic (Potential).		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.1201C>T	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977469	0.74360	.	.	ENSG00000025796	ENST00000369002;ENST00000437345;ENST00000423697	T	0.69685	-0.42	5.34	5.34	0.76211	Sec63 domain (3);	0.000000	0.64402	D	0.000001	T	0.62853	0.2462	N	0.14661	0.345	0.45515	D	0.998472	D;P	0.58268	0.982;0.925	P;D	0.65140	0.76;0.932	T	0.70502	-0.4854	10	0.59425	D	0.04	-21.1178	19.0524	0.93051	0.0:0.0:1.0:0.0	.	401;401	Q9UGP8;B3KQF0	SEC63_HUMAN;.	Y	401;52;261	ENSP00000357998:H401Y	ENSP00000357998:H401Y	H	-	1	0	SEC63	108330749	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.419000	0.59835	2.505000	0.84491	0.563000	0.77884	CAT		0.388	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		12	158	0	0	0	0.001368	0	12	158				
WASF1	8936	broad.mit.edu	37	6	110424732	110424732	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:110424732C>G	ENST00000392589.1	-	9	1578	c.742G>C	c.(742-744)Gga>Cga	p.G248R	WASF1_ENST00000392588.1_Missense_Mutation_p.G248R|WASF1_ENST00000392586.1_Missense_Mutation_p.G248R|WASF1_ENST00000392587.2_Missense_Mutation_p.G248R|WASF1_ENST00000359451.2_Missense_Mutation_p.G248R	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	248					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)	p.G248R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GAGTAAGATCCATCCATATGA	0.398																																							uc003ptv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(742-744)GGA>CGA		Wiskott-Aldrich syndrome protein family member							128.0	114.0	119.0					6																	110424732		2203	4300	6503	SO:0001583	missense	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110424732C>G	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.742G>C	6.37:g.110424732C>G	ENSP00000376368:p.Gly248Arg					WASF1_uc003ptw.1_Missense_Mutation_p.G248R|WASF1_uc003ptx.1_Missense_Mutation_p.G248R|WASF1_uc003pty.1_Missense_Mutation_p.G248R	p.G248R	NM_003931	NP_003922	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	9	1579	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	248					E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	c.742G>C	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719467	0.48728	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.51	5.51	0.81932	.	0.049528	0.85682	D	0.000000	T	0.20495	0.0493	N	0.24115	0.695	0.80722	D	1	P	0.41748	0.761	B	0.41946	0.371	T	0.03433	-1.1037	10	0.11182	T	0.66	.	19.7791	0.96410	0.0:1.0:0.0:0.0	.	248	Q92558	WASF1_HUMAN	R	248	ENSP00000376365:G248R;ENSP00000376366:G248R;ENSP00000376368:G248R;ENSP00000376367:G248R;ENSP00000352425:G248R	ENSP00000352425:G248R	G	-	1	0	WASF1	110531425	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.294000	0.78760	2.763000	0.94921	0.650000	0.86243	GGA		0.398	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		6	55	0	0	0	0.001984	0	6	55				
DDO	8528	broad.mit.edu	37	6	110714395	110714395	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:110714395G>C	ENST00000368924.3	-	5	708	c.693C>G	c.(691-693)gtC>gtG	p.V231V	DDO_ENST00000368923.3_Silent_p.V172V	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	203					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)	p.V231V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GAACTTGGAGGACTTGGCCCC	0.502																																							uc003puc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(691-693)GTC>GTG		D-aspartate oxidase isoform a							107.0	117.0	114.0					6																	110714395		2203	4300	6503	SO:0001819	synonymous_variant	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110714395G>C	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.693C>G	6.37:g.110714395G>C						C6orf186_uc003pub.2_Intron|DDO_uc003pud.2_Silent_p.V172V	p.V231V	NM_003649	NP_003640	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	5	697	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	203					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Silent	SNP	ENST00000368924.3	37	c.693C>G	CCDS5082.1																																																																																				0.502	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			16	145	0	0	0	0.00499	0	16	145				
HDAC2	3066	broad.mit.edu	37	6	114279889	114279889	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:114279889G>A	ENST00000519065.1	-	3	583	c.207C>T	c.(205-207)caC>caT	p.H69H	HDAC2_ENST00000398283.2_Silent_p.H163H|HDAC2_ENST00000519108.1_Silent_p.H39H|HDAC2_ENST00000368632.2_Silent_p.H39H			Q92769	HDAC2_HUMAN	histone deacetylase 2	69	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.H163H(1)|p.H69H(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	ACTCATCACTGTGATATTTTG	0.363																																							uc003pwd.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(487-489)CAC>CAT		histone deacetylase 2	Vorinostat(DB02546)						151.0	141.0	144.0					6																	114279889		1858	4120	5978	SO:0001819	synonymous_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114279889G>A	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.207C>T	6.37:g.114279889G>A						HDAC2_uc003pwc.1_Silent_p.H39H|HDAC2_uc003pwe.1_Silent_p.H39H	p.H163H	NM_001527	NP_001518	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	3	489	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	69			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Silent	SNP	ENST00000519065.1	37	c.489C>T	CCDS43493.2																																																																																				0.363	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			13	84	0	0	0	0.001368	0	13	84				
VNN2	8875	broad.mit.edu	37	6	133072641	133072641	+	Silent	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:133072641T>A	ENST00000326499.6	-	5	967	c.843A>T	c.(841-843)gcA>gcT	p.A281A	VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525270.1_Silent_p.A228A|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	281	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.A281A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GACCATTTGGTGCATAAATAC	0.418																																							uc003qdt.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(841-843)GCA>GCT		vanin 2 isoform 1 precursor							54.0	55.0	55.0					6																	133072641		2170	4176	6346	SO:0001819	synonymous_variant	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133072641T>A	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.843A>T	6.37:g.133072641T>A						VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Silent_p.A228A	p.A281A	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	5	854	-			281			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	c.843A>T	CCDS5161.1																																																																																				0.418	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			8	65	0	0	0	0.004482	0	8	65				
TCF21	6943	broad.mit.edu	37	6	134210674	134210674	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:134210674G>A	ENST00000367882.4	+	1	399	c.139G>A	c.(139-141)Ggg>Agg	p.G47R	RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.G47R	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	47					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|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)	p.G47R(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CTGCGAGAATGGGTCTCCCCA	0.597																																							uc003qei.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(139-141)GGG>AGG		transcription factor 21							41.0	49.0	47.0					6																	134210674		2203	4300	6503	SO:0001583	missense	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134210674G>A	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.139G>A	6.37:g.134210674G>A	ENSP00000356857:p.Gly47Arg					uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.G47R	p.G47R	NM_003206	NP_003197	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	1	415	+	Colorectal(23;0.221)|Breast(56;0.247)		47					E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	c.139G>A	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574130	0.28092	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.96491	-4.03;-4.03	4.64	4.64	0.57946	.	0.171467	0.50627	D	0.000112	D	0.90123	0.6914	L	0.43152	1.355	0.43729	D	0.996218	P	0.40476	0.718	B	0.32864	0.154	D	0.91663	0.5344	10	0.52906	T	0.07	-26.2112	13.3669	0.60689	0.0:0.0:0.8416:0.1583	.	47	O43680	TCF21_HUMAN	R	47	ENSP00000356857:G47R;ENSP00000237316:G47R	ENSP00000237316:G47R	G	+	1	0	TCF21	134252367	1.000000	0.71417	0.368000	0.25939	0.113000	0.19764	3.200000	0.51051	2.117000	0.64856	0.313000	0.20887	GGG		0.597	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		6	37	0	0	0	0.001168	0	6	37				
OLIG3	167826	broad.mit.edu	37	6	137815202	137815202	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:137815202G>T	ENST00000367734.2	-	1	329	c.106C>A	c.(106-108)Cgt>Agt	p.R36S		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	36					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.R36S(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GAGTTGAGACGGCTCTCCtgg	0.617																																							uc003qhp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(106-108)CGT>AGT		oligodendrocyte transcription factor 3							59.0	63.0	62.0					6																	137815202		2203	4300	6503	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815202G>T	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.106C>A	6.37:g.137815202G>T	ENSP00000356708:p.Arg36Ser						p.R36S	NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	330	-	Breast(32;0.165)|Colorectal(23;0.24)		36					Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.106C>A	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364142	0.24684	.	.	ENSG00000177468	ENST00000367734	D	0.99399	-5.83	5.55	5.55	0.83447	.	0.000000	0.48767	D	0.000162	D	0.96131	0.8739	N	0.08118	0	0.50313	D	0.999865	D	0.57257	0.979	P	0.48654	0.585	D	0.96773	0.9570	10	0.09843	T	0.71	0.0028	14.3501	0.66694	0.0:0.0:0.8518:0.1482	.	36	Q7RTU3	OLIG3_HUMAN	S	36	ENSP00000356708:R36S	ENSP00000356708:R36S	R	-	1	0	OLIG3	137856895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.192000	0.42649	2.594000	0.87642	0.591000	0.81541	CGT		0.617	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		11	66	1	0	3.07112e-06	0.000978	4.06035e-06	11	66				
SYNE1	23345	broad.mit.edu	37	6	152746527	152746527	+	Missense_Mutation	SNP	G	G	C	rs587780469		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:152746527G>C	ENST00000367255.5	-	39	5857	c.5256C>G	c.(5254-5256)atC>atG	p.I1752M	SYNE1_ENST00000341594.5_Missense_Mutation_p.I1789M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I1752M|SYNE1_ENST00000448038.1_Missense_Mutation_p.I1759M|SYNE1_ENST00000423061.1_Missense_Mutation_p.I1759M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1752					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.I1752M(2)|p.I1759M(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTGTTAATGATCTGTGGTA	0.308										HNSCC(10;0.0054)																													uc010kiw.2		NA																	3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(5254-5256)ATC>ATG		spectrin repeat containing, nuclear envelope 1							140.0	137.0	138.0					6																	152746527		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152746527G>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5256C>G	6.37:g.152746527G>C	ENSP00000356224:p.Ile1752Met	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.I1759M|SYNE1_uc003qou.3_Missense_Mutation_p.I1752M|SYNE1_uc010kjb.1_Missense_Mutation_p.I1735M	p.I1752M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	39	5858	-		Ovarian(120;0.0955)	1752			Spectrin 2.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.5256C>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	9.581	1.123571	0.20959	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.71	-3.93	0.04143	.	0.185437	0.37955	N	0.001862	T	0.11793	0.0287	L	0.51422	1.61	0.58432	D	0.999997	B;B;B;P	0.49358	0.022;0.044;0.044;0.923	B;B;B;B	0.42916	0.007;0.017;0.017;0.402	T	0.09164	-1.0687	10	0.45353	T	0.12	.	2.4319	0.04473	0.1048:0.1847:0.3445:0.366	.	1735;1752;1752;1759	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	1752;1759;1752;1759;1789	ENSP00000356224:I1752M;ENSP00000396024:I1759M;ENSP00000265368:I1752M;ENSP00000390975:I1759M;ENSP00000341887:I1789M	ENSP00000265368:I1752M	I	-	3	3	SYNE1	152788220	0.870000	0.30015	0.761000	0.31378	0.785000	0.44390	-0.080000	0.11339	-0.930000	0.03752	-0.291000	0.09656	ATC		0.308	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		15	105	0	0	0	0.008871	0	15	105				
SCAF8	22828	broad.mit.edu	37	6	155153150	155153150	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:155153150C>G	ENST00000367178.3	+	20	3013	c.2437C>G	c.(2437-2439)Ctg>Gtg	p.L813V	SCAF8_ENST00000367186.4_Missense_Mutation_p.L879V|SCAF8_ENST00000417268.1_Missense_Mutation_p.L813V|TIAM2_ENST00000461783.3_5'Flank	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	813	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.L813V(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTCTGGAATTCTGGGAGTCCA	0.403																																							uc003qqa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2437-2439)CTG>GTG		RNA-binding motif protein 16							69.0	75.0	73.0					6																	155153150		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155153150C>G	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2437C>G	6.37:g.155153150C>G	ENSP00000356146:p.Leu813Val					TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.L879V|RBM16_uc011efk.1_Missense_Mutation_p.L858V|RBM16_uc003qpz.2_Missense_Mutation_p.L813V|RBM16_uc010kji.2_Missense_Mutation_p.L834V	p.L813V	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	21	2669	+		Ovarian(120;0.196)	813			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.2437C>G	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410184	0.42715	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.45668	0.95;0.95;0.89	5.85	3.13	0.36017	.	0.181164	0.23642	U	0.046018	T	0.12732	0.0309	M	0.68593	2.085	0.29088	N	0.882286	B;B;P;P	0.38504	0.131;0.131;0.634;0.634	B;B;B;B	0.30572	0.058;0.058;0.117;0.117	T	0.13098	-1.0522	10	0.17369	T	0.5	.	2.5664	0.04784	0.1312:0.5254:0.1272:0.2163	.	858;879;891;813	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	V	813;813;879	ENSP00000356146:L813V;ENSP00000413098:L813V;ENSP00000356154:L879V	ENSP00000356146:L813V	L	+	1	2	SCAF8	155194842	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-1.464000	0.02359	0.821000	0.34540	0.655000	0.94253	CTG		0.403	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		17	93	0	0	0	0.008871	0	17	93				
IGF2R	3482	broad.mit.edu	37	6	160505029	160505029	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:160505029G>A	ENST00000356956.1	+	40	6029	c.5881G>A	c.(5881-5883)Gag>Aag	p.E1961K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1961					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.E1961K(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TGATGAAGATGAGGACATTGG	0.468																																							uc003qta.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(5881-5883)GAG>AAG		insulin-like growth factor 2 receptor precursor							133.0	118.0	123.0					6																	160505029		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160505029G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5881G>A	6.37:g.160505029G>A	ENSP00000349437:p.Glu1961Lys						p.E1961K	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	40	6029	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1961			13.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.5881G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659977	0.47572	.	.	ENSG00000197081	ENST00000356956	T	0.02085	4.46	5.25	4.38	0.52667	Mannose-6-phosphate receptor, binding (1);	0.386402	0.29113	N	0.013108	T	0.01124	0.0037	L	0.50333	1.59	0.19300	N	0.999974	B	0.26935	0.164	B	0.30401	0.115	T	0.48636	-0.9018	10	0.08381	T	0.77	-11.4236	14.7933	0.69860	0.0726:0.0:0.9274:0.0	.	1961	P11717	MPRI_HUMAN	K	1961	ENSP00000349437:E1961K	ENSP00000349437:E1961K	E	+	1	0	IGF2R	160425019	0.991000	0.36638	0.001000	0.08648	0.861000	0.49209	6.008000	0.70739	2.894000	0.99253	0.655000	0.94253	GAG		0.468	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		8	80	0	0	0	0.006214	0	8	80				
DGKB	1607	broad.mit.edu	37	7	14775748	14775748	+	Silent	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:14775748A>T	ENST00000403951.2	-	5	659	c.240T>A	c.(238-240)acT>acA	p.T80T	DGKB_ENST00000399322.3_Silent_p.T80T|DGKB_ENST00000402815.1_Silent_p.T80T|DGKB_ENST00000407950.1_Silent_p.T73T|DGKB_ENST00000258767.5_Silent_p.T80T|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Silent_p.T80T|DGKB_ENST00000444700.2_Silent_p.T73T			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	80					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.T80T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						AAAGGTGTGCAGTGAAATCAT	0.358																																							uc003ssz.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(238-240)ACT>ACA		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						60.0	60.0	60.0					7																	14775748		1845	4098	5943	SO:0001819	synonymous_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14775748A>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.240T>A	7.37:g.14775748A>T						DGKB_uc011jxt.1_Silent_p.T73T|DGKB_uc003sta.2_Silent_p.T80T|DGKB_uc011jxu.1_Silent_p.T80T|DGKB_uc011jxv.1_Silent_p.T80T	p.T80T	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			4	427	-			80					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	c.240T>A	CCDS47547.1																																																																																				0.358	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		4	20	0	0	0	0.009096	0	4	20				
ANKMY2	57037	broad.mit.edu	37	7	16649287	16649287	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:16649287G>C	ENST00000306999.2	-	7	1093	c.850C>G	c.(850-852)Cag>Gag	p.Q284E		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	284						cilium (GO:0005929)	metal ion binding (GO:0046872)	p.Q284E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CGAACCAGCTGCTGGAGGAGT	0.398																																							uc003sti.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(850-852)CAG>GAG		ankyrin repeat and MYND domain containing 2							106.0	107.0	107.0					7																	16649287		2203	4300	6503	SO:0001583	missense	57037					cilium	zinc ion binding	g.chr7:16649287G>C	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.850C>G	7.37:g.16649287G>C	ENSP00000303570:p.Gln284Glu					ANKMY2_uc010ktz.2_RNA	p.Q284E	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	7	1050	-	Lung NSC(10;0.103)|all_lung(11;0.204)		284					A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	c.850C>G	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987130	0.93106	.	.	ENSG00000106524	ENST00000306999	D	0.82255	-1.59	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.91646	0.7360	M	0.84326	2.69	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	D	0.91671	0.5350	10	0.72032	D	0.01	-24.3838	20.5568	0.99304	0.0:0.0:1.0:0.0	.	284	Q8IV38	ANKY2_HUMAN	E	284	ENSP00000303570:Q284E	ENSP00000303570:Q284E	Q	-	1	0	ANKMY2	16615812	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	CAG		0.398	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		5	48	0	0	0	0.001168	0	5	48				
SP4	6671	broad.mit.edu	37	7	21516717	21516717	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:21516717G>C	ENST00000222584.3	+	4	1917	c.1699G>C	c.(1699-1701)Gga>Cga	p.G567R		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	567					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.G567R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AGGACAAGATGGAGTAAAAGT	0.378																																							uc003sva.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1699-1701)GGA>CGA		Sp4 transcription factor							69.0	63.0	65.0					7																	21516717		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21516717G>C		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1699G>C	7.37:g.21516717G>C	ENSP00000222584:p.Gly567Arg					SP4_uc003svb.2_Missense_Mutation_p.G254R	p.G567R	NM_003112	NP_003103	Q02446	SP4_HUMAN			4	1880	+			567					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.1699G>C	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273587	0.59649	.	.	ENSG00000105866	ENST00000222584;ENST00000432066	T	0.10763	2.84	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.33933	0.0880	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00051	-1.2192	10	0.40728	T	0.16	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	567	Q02446	SP4_HUMAN	R	567;10	ENSP00000222584:G567R	ENSP00000222584:G567R	G	+	1	0	SP4	21483242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.941000	0.99782	0.655000	0.94253	GGA		0.378	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		8	41	0	0	0	0.00308	0	8	41				
NOD1	10392	broad.mit.edu	37	7	30475652	30475652	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:30475652C>T	ENST00000222823.4	-	11	3108	c.2583G>A	c.(2581-2583)gcG>gcA	p.A861A		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	861					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.A861A(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GCAGGGCCCTCGCAAGGCTCT	0.443																																							uc003tav.2		NA																	2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(1)|skin(1)	2						c.(2581-2583)GCG>GCA		nucleotide-binding oligomerization domain							129.0	106.0	114.0					7																	30475652		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30475652C>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2583G>A	7.37:g.30475652C>T							p.A861A	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			11	3106	-			861			LRR 6.		B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.2583G>A	CCDS5427.1																																																																																				0.443	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			11	35	0	0	0	0.003163	0	11	35				
FKBP9	11328	broad.mit.edu	37	7	33020067	33020067	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:33020067G>T	ENST00000242209.4	+	5	964	c.795G>T	c.(793-795)aaG>aaT	p.K265N	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538443.1_Missense_Mutation_p.K127N|FKBP9_ENST00000490776.2_Missense_Mutation_p.K33N|FKBP9_ENST00000538336.1_Missense_Mutation_p.K318N	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	265					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.K33N(1)|p.K265N(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TTGAGAACAAGGTAGTACCTG	0.468																																							uc003tdh.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(13)|ovary(1)	14						c.(793-795)AAG>AAT		FK506 binding protein 9 precursor							170.0	158.0	162.0					7																	33020067		2203	4300	6503	SO:0001583	missense	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33020067G>T	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.795G>T	7.37:g.33020067G>T	ENSP00000242209:p.Lys265Asn					AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Missense_Mutation_p.K318N|FKBP9_uc011kam.1_Missense_Mutation_p.K33N|FKBP9_uc003tdg.2_Missense_Mutation_p.K265N	p.K265N	NM_007270	NP_009201	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		5	976	+			265					B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	c.795G>T	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.388859	0.25118	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000418354;ENST00000490776	T;T;T;T;T	0.54479	0.57;0.74;0.76;0.97;0.97	5.06	-0.138	0.13464	.	0.376284	0.30695	N	0.009067	T	0.39009	0.1062	L	0.60455	1.87	0.09310	N	0.999998	B;B;B;B	0.28900	0.001;0.227;0.021;0.087	B;B;B;B	0.28465	0.0;0.09;0.045;0.035	T	0.19811	-1.0294	10	0.17832	T	0.49	-22.1879	5.2846	0.15694	0.355:0.2432:0.4018:0.0	.	33;318;265;265	B7Z1G9;B7Z6H3;O95302;B3KQQ0	.;.;FKBP9_HUMAN;.	N	265;318;127;33;33	ENSP00000242209:K265N;ENSP00000439250:K318N;ENSP00000437504:K127N;ENSP00000391034:K33N;ENSP00000441317:K33N	ENSP00000242209:K265N	K	+	3	2	FKBP9	32986592	0.478000	0.25917	0.651000	0.29564	0.959000	0.62525	0.436000	0.21526	-0.035000	0.13691	0.650000	0.86243	AAG		0.468	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		22	211	1	0	2.32416e-17	0.002299	3.80202e-17	22	211				
AOAH	313	broad.mit.edu	37	7	36763639	36763639	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:36763639G>T	ENST00000258749.5	-	1	514	c.115C>A	c.(115-117)Cac>Aac	p.H39N	AOAH_ENST00000431169.1_Missense_Mutation_p.H39N|AOAH_ENST00000535891.1_Missense_Mutation_p.H39N	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	39	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.H39N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACACAGGTGTGCCCATTCGAG	0.438																																							uc003tfh.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(115-117)CAC>AAC		acyloxyacyl hydrolase precursor							49.0	51.0	50.0					7																	36763639		2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36763639G>T	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.115C>A	7.37:g.36763639G>T	ENSP00000258749:p.His39Asn					AOAH_uc010kxf.2_Missense_Mutation_p.H39N|AOAH_uc011kba.1_Missense_Mutation_p.H39N	p.H39N	NM_001637	NP_001628	P28039	AOAH_HUMAN			1	516	-			39			Saposin B-type.		A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.115C>A	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	G	9.009	0.982104	0.18889	.	.	ENSG00000136250	ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647;ENST00000435386	T;D;D;T	0.84070	1.84;-1.8;-1.8;0.93	4.22	3.29	0.37713	Saposin-like (2);Saposin B (2);	0.804404	0.10793	N	0.633496	T	0.69433	0.3110	.	.	.	0.19775	N	0.999952	B;B;B	0.32324	0.244;0.364;0.137	B;B;B	0.27170	0.054;0.077;0.021	T	0.56135	-0.8029	9	0.27785	T	0.31	.	6.824	0.23872	0.1386:0.0:0.8614:0.0	.	39;39;39	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	N	39	ENSP00000441101:H39N;ENSP00000258749:H39N;ENSP00000405683:H39N;ENSP00000416051:H39N	ENSP00000258749:H39N	H	-	1	0	AOAH	36730164	0.028000	0.19301	0.004000	0.12327	0.493000	0.33554	1.531000	0.36018	1.039000	0.40074	0.655000	0.94253	CAC		0.438	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		5	32	1	0	1.23904e-05	0.000602	1.57585e-05	5	32				
GLI3	2737	broad.mit.edu	37	7	42085017	42085017	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:42085017C>A	ENST00000395925.3	-	6	876	c.792G>T	c.(790-792)ggG>ggT	p.G264G	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	264					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)	p.G264G(1)		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						TGTGGATGGCCCCCGTGCCGG	0.522									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																														uc011kbh.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(790-792)GGG>GGT		GLI-Kruppel family member GLI3							105.0	116.0	112.0					7																	42085017		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:42085017C>A		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.792G>T	7.37:g.42085017C>A						GLI3_uc011kbg.1_Silent_p.G205G	p.G264G	NM_000168	NP_000159	P10071	GLI3_HUMAN			6	883	-			264					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.792G>T	CCDS5465.1																																																																																				0.522	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		18	163	1	0	1.01871e-10	0.008871	1.53572e-10	18	163				
NUDCD3	23386	broad.mit.edu	37	7	44524670	44524670	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:44524670G>C	ENST00000355451.7	-	2	685	c.406C>G	c.(406-408)Cca>Gca	p.P136A		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	136								p.P136A(1)		endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						ACAGGGCCTGGAGGCTGCACT	0.542																																							uc003tkz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(406-408)CCA>GCA		NudC domain containing 3							85.0	83.0	84.0					7																	44524670		2203	4300	6503	SO:0001583	missense	23386							g.chr7:44524670G>C	BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.406C>G	7.37:g.44524670G>C	ENSP00000347626:p.Pro136Ala						p.P136A	NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN			2	592	-			136					Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	ENST00000355451.7	37	c.406C>G	CCDS5490.2	.	.	.	.	.	.	.	.	.	.	G	9.725	1.160722	0.21538	.	.	ENSG00000015676	ENST00000355451	T	0.53206	0.63	5.22	1.35	0.21983	.	2.135640	0.01706	N	0.027454	T	0.31918	0.0812	L	0.29908	0.895	0.09310	N	1	B	0.16603	0.018	B	0.14578	0.011	T	0.13548	-1.0505	10	0.05833	T	0.94	-18.4039	4.2557	0.10715	0.2609:0.0:0.5806:0.1585	.	136	Q8IVD9	NUDC3_HUMAN	A	136	ENSP00000347626:P136A	ENSP00000347626:P136A	P	-	1	0	NUDCD3	44491195	0.014000	0.17966	0.000000	0.03702	0.165000	0.22458	0.826000	0.27407	0.035000	0.15519	-0.244000	0.11960	CCA		0.542	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	NM_015332		8	46	0	0	0	0.00308	0	8	46				
PCLO	27445	broad.mit.edu	37	7	82544191	82544191	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:82544191T>A	ENST00000333891.9	-	7	13448	c.13111A>T	c.(13111-13113)Atg>Ttg	p.M4371L	PCLO_ENST00000423517.2_Missense_Mutation_p.M4371L|PCLO_ENST00000437081.1_Missense_Mutation_p.M1091L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.M4371L(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCATTCCCATTGGCTGGCCA	0.507																																							uc003uhx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(13111-13113)ATG>TTG		piccolo isoform 1							75.0	79.0	78.0					7																	82544191		1928	4140	6068	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544191T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13111A>T	7.37:g.82544191T>A	ENSP00000334319:p.Met4371Leu					PCLO_uc003uhv.2_Missense_Mutation_p.M4371L|PCLO_uc010lec.2_Missense_Mutation_p.M1336L	p.M4371L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	13400	-			4302						Missense_Mutation	SNP	ENST00000333891.9	37	c.13111A>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.509656	0.44660	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18338	2.22;2.22	5.75	4.58	0.56647	.	.	.	.	.	T	0.21881	0.0527	M	0.68593	2.085	0.53005	D	0.999962	B;B;B	0.19583	0.001;0.037;0.037	B;B;B	0.19148	0.002;0.024;0.024	T	0.02320	-1.1177	9	0.87932	D	0	.	13.1367	0.59413	0.0:0.0:0.1335:0.8665	.	4302;4371;4371	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	L	4371;4371;1091	ENSP00000334319:M4371L;ENSP00000388393:M4371L	ENSP00000334319:M4371L	M	-	1	0	PCLO	82382127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	0.995000	0.38917	0.533000	0.62120	ATG		0.507	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	64	0	0	0	0.00308	0	7	64				
SEMA3D	223117	broad.mit.edu	37	7	84651811	84651811	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:84651811C>A	ENST00000284136.6	-	11	1353	c.1310G>T	c.(1309-1311)gGa>gTa	p.G437V	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	437	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.G437V(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GAACGTTGGTCCTCCTGCAAC	0.443																																					Ovarian(63;442 1191 17318 29975 31528)	Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)	5						c.(1309-1311)GGA>GTA		semaphorin 3D precursor							270.0	235.0	247.0					7																	84651811		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84651811C>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.1310G>T	7.37:g.84651811C>A	ENSP00000284136:p.Gly437Val					SEMA3D_uc010led.2_Missense_Mutation_p.G437V|SEMA3D_uc003uib.2_Missense_Mutation_p.G76V	p.G437V	NM_152754	NP_689967	O95025	SEM3D_HUMAN			11	1350	-			437			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1310G>T	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968951	0.34754	.	.	ENSG00000153993	ENST00000284136	T	0.09163	3.01	5.67	3.75	0.43078	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.294860	0.40302	N	0.001138	T	0.08670	0.0215	N	0.17723	0.515	0.80722	D	1	B	0.19445	0.036	B	0.22601	0.04	T	0.13072	-1.0523	10	0.87932	D	0	.	12.71	0.57083	0.0:0.3694:0.5611:0.0694	.	437	O95025	SEM3D_HUMAN	V	437	ENSP00000284136:G437V	ENSP00000284136:G437V	G	-	2	0	SEMA3D	84489747	0.011000	0.17503	0.945000	0.38365	0.828000	0.46876	1.390000	0.34464	0.598000	0.29829	0.557000	0.71058	GGA		0.443	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		29	111	1	0	7.26314e-15	0.007291	1.17538e-14	29	111				
ANKIB1	54467	broad.mit.edu	37	7	92000797	92000797	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:92000797G>C	ENST00000265742.3	+	11	1869	c.1493G>C	c.(1492-1494)gGa>gCa	p.G498A		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	498							zinc ion binding (GO:0008270)	p.G498A(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGTTGTGGGAGTTAGTGAA	0.408																																							uc003ulw.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1492-1494)GGA>GCA		ankyrin repeat and IBR domain containing 1							69.0	62.0	64.0					7																	92000797		1855	4098	5953	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92000797G>C	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1493G>C	7.37:g.92000797G>C	ENSP00000265742:p.Gly498Ala					ANKIB1_uc010lew.1_5'UTR	p.G498A	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		11	1869	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		498					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.1493G>C	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024937	0.75390	.	.	ENSG00000001629	ENST00000265742	T	0.11604	2.76	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.06872	0.0175	N	0.04959	-0.14	0.80722	D	1	P	0.36086	0.536	B	0.32393	0.145	T	0.42275	-0.9461	10	0.48119	T	0.1	.	19.1893	0.93658	0.0:0.0:1.0:0.0	.	498	Q9P2G1	AKIB1_HUMAN	A	498	ENSP00000265742:G498A	ENSP00000265742:G498A	G	+	2	0	ANKIB1	91838733	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.628000	0.89032	0.563000	0.77884	GGA		0.408	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			7	9	0	0	0	0.001984	0	7	9				
CCDC132	55610	broad.mit.edu	37	7	92923863	92923863	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:92923863G>T	ENST00000305866.5	+	14	1210	c.1082G>T	c.(1081-1083)aGt>aTt	p.S361I	CCDC132_ENST00000541136.1_Missense_Mutation_p.S172I|CCDC132_ENST00000544910.1_Missense_Mutation_p.S331I|CCDC132_ENST00000317751.6_Missense_Mutation_p.S92I|CCDC132_ENST00000535481.1_Missense_Mutation_p.S81I	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	361						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.S361I(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAGAAGGGAGTAATATGATA	0.289																																							uc003umo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1081-1083)AGT>ATT		coiled-coil domain containing 132 isoform a							88.0	94.0	92.0					7																	92923863		1789	4038	5827	SO:0001583	missense	55610							g.chr7:92923863G>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1082G>T	7.37:g.92923863G>T	ENSP00000307666:p.Ser361Ile					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.S331I|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.S81I	p.S361I	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		14	1210	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		361					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.1082G>T	CCDS43617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.119|8.119	0.780561|0.780561	0.16120|0.16120	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751|ENST00000458707	T|.	0.47177|.	0.85|.	5.61|5.61	1.82|1.82	0.25136|0.25136	.|.	0.556344|.	0.20845|.	N|.	0.084636|.	T|T	0.29524|0.29524	0.0736|0.0736	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.16603|.	0.008;0.018;0.0|.	B;B;B|.	0.25884|.	0.004;0.064;0.002|.	T|T	0.21930|0.21930	-1.0231|-1.0231	10|5	0.45353|.	T|.	0.12|.	-1.8855|-1.8855	10.925|10.925	0.47185|0.47185	0.3411:0.0:0.6589:0.0|0.3411:0.0:0.6589:0.0	.|.	81;331;361|.	B4DS55;F5H5U7;Q96JG6|.	.;.;CC132_HUMAN|.	I|L	361;331;172;81;92|148	ENSP00000325582:S92I|.	ENSP00000307666:S361I|.	S|V	+|+	2|1	0|0	CCDC132|CCDC132	92761799|92761799	0.074000|0.074000	0.21230|0.21230	0.963000|0.963000	0.40424|0.40424	0.490000|0.490000	0.33462|0.33462	-0.029000|-0.029000	0.12329|0.12329	-0.056000|-0.056000	0.13221|0.13221	-1.094000|-1.094000	0.02160|0.02160	AGT|GTA		0.289	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		12	104	1	0	3.27435e-08	0.00245	4.63439e-08	12	104				
CCDC132	55610	broad.mit.edu	37	7	92970769	92970769	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:92970769A>T	ENST00000305866.5	+	23	2217	c.2089A>T	c.(2089-2091)Aca>Tca	p.T697S	CCDC132_ENST00000541136.1_Missense_Mutation_p.T508S|CCDC132_ENST00000544910.1_Missense_Mutation_p.T667S|CCDC132_ENST00000535481.1_Missense_Mutation_p.T417S|CCDC132_ENST00000474412.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	697						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.T697S(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCCACACTCACAGCAGCAGA	0.423																																							uc003umo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2089-2091)ACA>TCA		coiled-coil domain containing 132 isoform a							111.0	113.0	113.0					7																	92970769		1971	4160	6131	SO:0001583	missense	55610							g.chr7:92970769A>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2089A>T	7.37:g.92970769A>T	ENSP00000307666:p.Thr697Ser					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.T667S|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.T417S	p.T697S	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		23	2217	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		697					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.2089A>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	7.021	0.558773	0.13436	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481	.	.	.	5.55	3.04	0.35103	.	0.289408	0.38492	N	0.001676	T	0.15305	0.0369	N	0.01352	-0.895	0.80722	D	1	B;B;B	0.19331	0.035;0.034;0.02	B;B;B	0.19391	0.018;0.025;0.018	T	0.05402	-1.0887	9	0.10636	T	0.68	-10.3052	5.7275	0.18020	0.7129:0.143:0.1442:0.0	.	417;667;697	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	S	697;667;508;417	.	ENSP00000307666:T697S	T	+	1	0	CCDC132	92808705	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.319000	0.51983	1.054000	0.40438	0.533000	0.62120	ACA		0.423	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		8	52	0	0	0	0.006214	0	8	52				
GNGT1	2792	broad.mit.edu	37	7	93536065	93536065	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:93536065G>T	ENST00000248572.5	+	2	155	c.7G>T	c.(7-9)Gta>Tta	p.V3L	GNGT1_ENST00000428834.1_Missense_Mutation_p.V3L|GNGT1_ENST00000455502.1_Missense_Mutation_p.V3L|GNGT1_ENST00000430875.1_Missense_Mutation_p.V3L|GNGT1_ENST00000429473.1_Missense_Mutation_p.V3L	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	3					cardiac muscle cell apoptotic process (GO:0010659)|cellular response to hypoxia (GO:0071456)|eye photoreceptor cell development (GO:0042462)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)	p.V3L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AAAGATGCCAGTAATCAATAT	0.413																																							uc003unc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(7-9)GTA>TTA		guanine nucleotide binding protein (G protein),							117.0	114.0	115.0					7																	93536065		2203	4300	6503	SO:0001583	missense	2792				G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr7:93536065G>T		CCDS5633.1	7q21.3	2008-07-18			ENSG00000127928	ENSG00000127928			4411	protein-coding gene	gene with protein product		189970				8661128	Standard	NM_021955		Approved	GNG1	uc003unc.1	P63211	OTTHUMG00000022908	ENST00000248572.5:c.7G>T	7.37:g.93536065G>T	ENSP00000248572:p.Val3Leu					GNGT1_uc003umx.1_RNA	p.V3L	NM_021955	NP_068774	P63211	GBG1_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		2	155	+	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		3					A4D1H2|O43835|Q08447|Q16026|Q6LCP6	Missense_Mutation	SNP	ENST00000248572.5	37	c.7G>T	CCDS5633.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539014	0.45176	.	.	ENSG00000127928	ENST00000455502;ENST00000248572;ENST00000429473;ENST00000430875;ENST00000428834	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.75	5.75	0.90469	G-protein gamma domain (2);	0.064498	0.64402	D	0.000011	T	0.29355	0.0731	.	.	.	0.41141	D	0.985956	B	0.26363	0.147	B	0.18561	0.022	T	0.02705	-1.1121	9	0.45353	T	0.12	-27.8622	19.0975	0.93258	0.0:0.0:1.0:0.0	.	3	P63211	GBG1_HUMAN	L	3	ENSP00000395857:V3L;ENSP00000248572:V3L;ENSP00000388777:V3L;ENSP00000395756:V3L;ENSP00000401781:V3L	ENSP00000248572:V3L	V	+	1	0	GNGT1	93374001	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.375000	0.66173	2.885000	0.99019	0.655000	0.94253	GTA		0.413	GNGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254718.2	NM_021955		15	75	1	0	2.35188e-11	0.006122	3.58741e-11	15	75				
TMEM130	222865	broad.mit.edu	37	7	98446204	98446204	+	Splice_Site	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:98446204A>G	ENST00000416379.2	-	7	1124		c.e7+1		TMEM130_ENST00000345589.4_Splice_Site|TMEM130_ENST00000474857.1_5'Flank|TMEM130_ENST00000339375.4_Splice_Site|TMEM130_ENST00000546258.1_Splice_Site|TMEM130_ENST00000450876.1_Splice_Site			Q8N3G9	TM130_HUMAN	transmembrane protein 130							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.?(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGAGTACCCACCTCCACCAT	0.557																																							uc003upo.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.e7+1		transmembrane protein 130 isoform a							127.0	111.0	117.0					7																	98446204		2203	4300	6503	SO:0001630	splice_region_variant	222865					Golgi membrane|integral to membrane		g.chr7:98446204A>G		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.1119+1T>C	7.37:g.98446204A>G						TMEM130_uc011kiq.1_Splice_Site_p.E354_splice|TMEM130_uc011kir.1_Splice_Site_p.E373_splice|TMEM130_uc003upn.2_Splice_Site_p.E271_splice	p.E373_splice	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		7	1308	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)							A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Splice_Site	SNP	ENST00000416379.2	37	c.1119_splice	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079728	0.55753	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3844	0.49776	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM130	98284140	1.000000	0.71417	0.998000	0.56505	0.794000	0.44872	4.878000	0.63093	1.953000	0.56701	0.459000	0.35465	.		0.557	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913	Intron	6	89	0	0	0	0.001168	0	6	89				
LRCH4	4034	broad.mit.edu	37	7	100174741	100174741	+	Silent	SNP	C	C	A	rs543182197		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:100174741C>A	ENST00000310300.6	-	12	1384	c.1332G>T	c.(1330-1332)ggG>ggT	p.G444G	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	444					nervous system development (GO:0007399)	PML body (GO:0016605)		p.G444G(1)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGCGGCGGCCCCTCCCACAA	0.617																																							uc003uvj.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1330-1332)GGG>GGT		leucine-rich repeats and calponin homology (CH)							65.0	67.0	66.0					7																	100174741		2203	4300	6503	SO:0001819	synonymous_variant	4034				nervous system development	PML body	protein binding	g.chr7:100174741C>A	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1332G>T	7.37:g.100174741C>A						LRCH4_uc010lgz.2_Intron|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_RNA	p.G444G	NM_002319	NP_002310	O75427	LRCH4_HUMAN			12	1385	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		444					A4D2D5|Q8WV85|Q96ID0	Silent	SNP	ENST00000310300.6	37	c.1332G>T	CCDS34706.1																																																																																				0.617	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		8	50	1	0	0.000442599	0.006214	0.00050913	8	50				
ZAN	7455	broad.mit.edu	37	7	100364793	100364793	+	RNA	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:100364793G>T	ENST00000348028.3	+	0	4938				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1591G(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGAACCGCGGGGGGATCCTGG	0.572																																							uc003uwj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(4771-4773)GGG>GGT		zonadhesin isoform 3							48.0	49.0	49.0					7																	100364793		2057	4197	6254			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100364793G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364793G>T						ZAN_uc003uwk.2_Silent_p.G1591G|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Silent_p.G168G	p.G1591G	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		25	4938	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1591			Extracellular (Potential).|VWFD 2.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.4773G>T																																																																																					0.572	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	29	1	0	1.23904e-05	0.000602	1.57585e-05	5	29				
ZAN	7455	broad.mit.edu	37	7	100385713	100385713	+	RNA	SNP	C	C	A	rs575862240		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:100385713C>A	ENST00000348028.3	+	0	7346				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T2393T(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGATTACCACCGTCTACGGCT	0.607																																							uc003uwj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(7180-7182)ACC>ACA		zonadhesin isoform 3							60.0	57.0	58.0					7																	100385713		1950	4131	6081			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100385713C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100385713C>A						ZAN_uc003uwk.2_Silent_p.T2394T|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.T444T	p.T2394T	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		39	7347	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2394			VWFD 4.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.7182C>A																																																																																					0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		19	49	1	0	2.35188e-11	0.006122	3.58741e-11	19	49				
RELN	5649	broad.mit.edu	37	7	103194238	103194238	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:103194238G>T	ENST00000428762.1	-	39	5997	c.5838C>A	c.(5836-5838)atC>atA	p.I1946I	RELN_ENST00000343529.5_Silent_p.I1946I|RELN_ENST00000424685.2_Silent_p.I1946I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1946					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.I1946I(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TATTTCCATCGATAATGAAGT	0.363																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(5836-5838)ATC>ATA		reelin isoform a							151.0	142.0	145.0					7																	103194238		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103194238G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5838C>A	7.37:g.103194238G>T						RELN_uc010liz.2_Silent_p.I1946I	p.I1946I	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	39	5998	-			1946					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.5838C>A	CCDS47680.1																																																																																				0.363	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		15	66	1	0	2.32078e-09	0.003163	3.40206e-09	15	66				
RELN	5649	broad.mit.edu	37	7	103363606	103363606	+	Silent	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:103363606A>G	ENST00000428762.1	-	8	945	c.786T>C	c.(784-786)tcT>tcC	p.S262S	RELN_ENST00000343529.5_Silent_p.S262S|RELN_ENST00000424685.2_Silent_p.S262S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	262					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.S262S(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTGGAGGACAGAAGCTGTTG	0.343																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(784-786)TCT>TCC		reelin isoform a							88.0	86.0	87.0					7																	103363606		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103363606A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.786T>C	7.37:g.103363606A>G						RELN_uc010liz.2_Silent_p.S262S	p.S262S	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	8	946	-			262					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.786T>C	CCDS47680.1																																																																																				0.343	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		10	26	0	0	0	0.00245	0	10	26				
LHFPL3	375612	broad.mit.edu	37	7	103969375	103969375	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:103969375G>A	ENST00000401970.2	+	1	228	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	LHFPL3_ENST00000535008.1_Missense_Mutation_p.V50I|LHFPL3_ENST00000424859.1_Missense_Mutation_p.V36I|LHFPL3_ENST00000543266.1_Missense_Mutation_p.V50I			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	50						integral component of membrane (GO:0016021)		p.V50I(1)		kidney(1)|large_intestine(2)|lung(6)	9						CTTTGCCATCGTCAACGTGGT	0.617																																							uc003vce.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(148-150)GTC>ATC		lipoma HMGIC fusion partner-like 3							79.0	93.0	88.0					7																	103969375		2201	4300	6501	SO:0001583	missense	375612					integral to membrane		g.chr7:103969375G>A	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.106G>A	7.37:g.103969375G>A	ENSP00000385374:p.Val36Ile					LHFPL3_uc003vcf.2_Missense_Mutation_p.V50I	p.V50I	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN			1	272	+			36			Helical; (Potential).		A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000401970.2	37	c.148G>A		.	.	.	.	.	.	.	.	.	.	G	4.144	0.025123	0.08054	.	.	ENSG00000187416	ENST00000424859;ENST00000535008;ENST00000401970;ENST00000543266	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	4.58	3.69	0.42338	.	0.000000	0.64402	D	0.000001	T	0.38401	0.1039	N	0.01742	-0.745	0.36294	D	0.856603	B;B	0.13594	0.008;0.008	B;B	0.19148	0.024;0.024	T	0.47071	-0.9145	10	0.02654	T	1	-19.2438	11.6798	0.51451	0.0884:0.0:0.9116:0.0	.	50;50	A1L384;A4D0Q5	.;.	I	36;50;36;50	ENSP00000393128:V36I;ENSP00000444350:V50I;ENSP00000385374:V36I;ENSP00000445976:V50I	ENSP00000385374:V36I	V	+	1	0	LHFPL3	103756611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.336000	0.33850	2.071000	0.62044	0.514000	0.50259	GTC		0.617	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		5	42	0	0	0	0.000602	0	5	42				
KMT2E	55904	broad.mit.edu	37	7	104749463	104749463	+	Silent	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:104749463C>G	ENST00000311117.3	+	23	4088	c.3543C>G	c.(3541-3543)ctC>ctG	p.L1181L	SRPK2_ENST00000493638.1_5'Flank|KMT2E_ENST00000334877.4_Silent_p.L1181L|KMT2E_ENST00000334914.7_Silent_p.L236L|KMT2E_ENST00000257745.4_Silent_p.L1181L	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1181					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L1181L(1)									ACTTTCCACTCATTAGTGTAT	0.458																																							uc003vcm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3541-3543)CTC>CTG		myeloid/lymphoid or mixed-lineage leukemia 5							83.0	73.0	76.0					7																	104749463		2203	4300	6503	SO:0001819	synonymous_variant	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104749463C>G	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3543C>G	7.37:g.104749463C>G						MLL5_uc010ljc.2_Silent_p.L1181L|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_RNA|MLL5_uc010ljg.2_5'UTR|uc003vcp.1_5'Flank|MLL5_uc010ljh.1_5'UTR	p.L1181L	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			23	4077	+			1181					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	c.3543C>G	CCDS34723.1																																																																																				0.458	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			4	47	0	0	0	0.009096	0	4	47				
LMOD2	442721	broad.mit.edu	37	7	123296091	123296091	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:123296091T>C	ENST00000458573.2	+	1	231	c.74T>C	c.(73-75)cTg>cCg	p.L25P	LMOD2_ENST00000456238.2_Missense_Mutation_p.L25P	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	25	Glu-rich.|Tropomyosin-binding. {ECO:0000250}.					cytoskeleton (GO:0005856)		p.L25P(1)									CTCGCCTCCCTGTCAGCCGAG	0.532																																							uc003vky.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(73-75)CTG>CCG		leiomodin 2 (cardiac)							42.0	45.0	44.0					7																	123296091		1955	4155	6110	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123296091T>C	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.74T>C	7.37:g.123296091T>C	ENSP00000411932:p.Leu25Pro						p.L25P	NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN			1	231	+			25			Tropomyosin-binding (By similarity).|Potential.|Glu-rich.		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.74T>C	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.536975	0.85812	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074;ENST00000456238	T;T	0.52057	0.68;0.68	5.91	5.91	0.95273	.	0.000000	0.29369	N	0.012359	T	0.72922	0.3521	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77688	-0.2494	10	0.87932	D	0	-8.8066	16.3483	0.83171	0.0:0.0:0.0:1.0	.	25	Q6P5Q4	LMOD2_HUMAN	P	25	ENSP00000411932:L25P;ENSP00000398975:L25P	ENSP00000405123:L25P	L	+	2	0	LMOD2	123083327	1.000000	0.71417	0.975000	0.42487	0.928000	0.56348	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	CTG		0.532	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			3	11	0	0	0	0.001168	0	3	11				
GRM8	2918	broad.mit.edu	37	7	126173904	126173904	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:126173904T>G	ENST00000339582.2	-	9	2340	c.1532A>C	c.(1531-1533)cAc>cCc	p.H511P	GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Missense_Mutation_p.H511P|GRM8_ENST00000358373.3_Missense_Mutation_p.H511P			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	511					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.H511P(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGACGCCGGGTGAGTATGTTC	0.493										HNSCC(24;0.065)																													uc003vlr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1531-1533)CAC>CCC		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						52.0	56.0	55.0					7																	126173904		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173904T>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1532A>C	7.37:g.126173904T>G	ENSP00000344173:p.His511Pro	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.H511P|GRM8_uc010lkz.1_RNA	p.H511P	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	1843	-		Prostate(267;0.186)	511			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1532A>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	6.439	0.449218	0.12223	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88046	-2.25;-2.25;-2.33	5.8	4.64	0.57946	.	0.225469	0.47852	D	0.000210	T	0.72187	0.3429	N	0.08118	0	0.80722	D	1	B;B	0.26483	0.15;0.0	B;B	0.28709	0.093;0.0	T	0.63875	-0.6538	10	0.12766	T	0.61	.	9.8978	0.41329	0.0:0.0841:0.0:0.9159	.	511;511	O00222-2;O00222	.;GRM8_HUMAN	P	511	ENSP00000344173:H511P;ENSP00000409790:H511P;ENSP00000351142:H511P	ENSP00000344173:H511P	H	-	2	0	GRM8	125961140	0.999000	0.42202	0.982000	0.44146	0.802000	0.45316	3.589000	0.53972	1.023000	0.39654	0.523000	0.50628	CAC		0.493	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			5	73	0	0	0	0.001984	0	5	73				
SMO	6608	broad.mit.edu	37	7	128846155	128846155	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:128846155T>G	ENST00000249373.3	+	5	1365	c.1085T>G	c.(1084-1086)cTg>cGg	p.L362R		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	362					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L362R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	TACTTCCACCTGCTCACCTGG	0.572			Mis		skin basal cell																																		uc003vor.2		NA		Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell 		1	Substitution - Missense(1)		lung(1)	skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						c.(1084-1086)CTG>CGG		smoothened precursor							210.0	166.0	181.0					7																	128846155		2203	4300	6503	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128846155T>G	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1085T>G	7.37:g.128846155T>G	ENSP00000249373:p.Leu362Arg					SMO_uc003vos.2_Missense_Mutation_p.L37R	p.L362R	NM_005631	NP_005622	Q99835	SMO_HUMAN			5	1365	+			362			Helical; Name=4; (Potential).		A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.1085T>G	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.305905	0.81247	.	.	ENSG00000128602	ENST00000249373	D	0.85861	-2.04	5.73	5.73	0.89815	GPCR, family 2-like (1);	0.143626	0.50627	D	0.000118	D	0.92977	0.7765	M	0.90019	3.08	0.80722	D	1	D;D	0.69078	0.997;0.96	D;P	0.65874	0.939;0.776	D	0.94194	0.7444	10	0.87932	D	0	.	13.7477	0.62885	0.0:0.0:0.0:1.0	.	362;362	A4D1K5;Q99835	.;SMO_HUMAN	R	362	ENSP00000249373:L362R	ENSP00000249373:L362R	L	+	2	0	SMO	128633391	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.040000	0.89188	2.186000	0.69663	0.454000	0.30748	CTG		0.572	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		34	100	0	0	0	0.002836	0	34	100				
NRF1	4899	broad.mit.edu	37	7	129317534	129317534	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:129317534G>T	ENST00000393232.1	+	4	518	c.401G>T	c.(400-402)tGt>tTt	p.C134F	NRF1_ENST00000311967.2_Missense_Mutation_p.C134F|NRF1_ENST00000223190.4_Missense_Mutation_p.C134F|NRF1_ENST00000353868.4_Missense_Mutation_p.C134F|NRF1_ENST00000393230.2_Missense_Mutation_p.C134F|NRF1_ENST00000539636.1_5'UTR|NRF1_ENST00000393231.3_Missense_Mutation_p.C134F	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	134					cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.C134F(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						ATTGTCCTCTGTATCTCACCC	0.413																																							uc003voz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(400-402)TGT>TTT		nuclear respiratory factor 1							205.0	182.0	190.0					7																	129317534		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129317534G>T	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.401G>T	7.37:g.129317534G>T	ENSP00000376924:p.Cys134Phe					NRF1_uc003vpa.2_Missense_Mutation_p.C134F|NRF1_uc011kpa.1_5'UTR|NRF1_uc003vpb.2_Missense_Mutation_p.C134F	p.C134F	NM_005011	NP_005002	Q16656	NRF1_HUMAN			4	518	+			134					A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.401G>T	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630470	0.87660	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000454688;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	4.87	4.87	0.63330	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	L	0.47716	1.5	0.80722	D	1	P;D	0.71674	0.942;0.998	P;D	0.65874	0.82;0.939	T	0.76063	-0.3096	9	0.72032	D	0.01	-9.6801	17.3667	0.87366	0.0:0.0:1.0:0.0	.	134;134	Q96AN2;Q16656	.;NRF1_HUMAN	F	134	.	ENSP00000223190:C134F	C	+	2	0	NRF1	129104770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.286000	0.95898	2.405000	0.81733	0.603000	0.83216	TGT		0.413	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		49	148	1	0	1.38658e-30	0.00361	2.34912e-30	49	148				
NRF1	4899	broad.mit.edu	37	7	129350356	129350356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:129350356C>A	ENST00000393232.1	+	7	1025	c.908C>A	c.(907-909)tCa>tAa	p.S303*	NRF1_ENST00000311967.2_Nonsense_Mutation_p.S303*|NRF1_ENST00000223190.4_Nonsense_Mutation_p.S303*|NRF1_ENST00000353868.4_Intron|NRF1_ENST00000393230.2_Nonsense_Mutation_p.S303*|NRF1_ENST00000539636.1_Nonsense_Mutation_p.S142*|NRF1_ENST00000393231.3_Nonsense_Mutation_p.S303*	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	303	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S303*(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CTTGTACCATCACAGACTGTA	0.468																																							uc003voz.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(907-909)TCA>TAA		nuclear respiratory factor 1							188.0	160.0	169.0					7																	129350356		2203	4300	6503	SO:0001587	stop_gained	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129350356C>A	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.908C>A	7.37:g.129350356C>A	ENSP00000376924:p.Ser303*					NRF1_uc003vpa.2_Nonsense_Mutation_p.S303*|NRF1_uc011kpa.1_Nonsense_Mutation_p.S142*|NRF1_uc003vpb.2_Nonsense_Mutation_p.S303*	p.S303*	NM_005011	NP_005002	Q16656	NRF1_HUMAN			7	1025	+			303			Required for transcriptional activation.|		A8K4C6|B4DDV6|Q15305|Q96AN2	Nonsense_Mutation	SNP	ENST00000393232.1	37	c.908C>A	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862813	0.91511	.	.	ENSG00000106459	ENST00000393232;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	6.17	6.17	0.99709	.	0.124363	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2611	19.8676	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	X	303;142;303;303;303;303	.	ENSP00000223190:S303X	S	+	2	0	NRF1	129137592	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	5.983000	0.70540	2.941000	0.99782	0.655000	0.94253	TCA		0.468	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		27	84	1	0	3.73148e-12	0.007291	5.77963e-12	27	84				
ATP6V0A4	50617	broad.mit.edu	37	7	138394486	138394486	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:138394486C>A	ENST00000310018.2	-	21	2594	c.2312G>T	c.(2311-2313)gGc>gTc	p.G771V	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G771V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G771V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	771					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.G771V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCCTCCCCAGCCTCGCGTCTG	0.493																																							uc003vuf.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2311-2313)GGC>GTC		ATPase, H+ transporting, lysosomal V0 subunit							100.0	101.0	101.0					7																	138394486		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138394486C>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2312G>T	7.37:g.138394486C>A	ENSP00000308122:p.Gly771Val					ATP6V0A4_uc003vug.2_Missense_Mutation_p.G771V|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.G771V	p.G771V	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			20	2550	-			771			Lumenal (Potential).		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.2312G>T	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164959	0.57476	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.86432	-2.12;-2.12;-2.12	5.71	5.71	0.89125	.	0.220303	0.42294	D	0.000731	D	0.93022	0.7779	M	0.92833	3.35	0.80722	D	1	D	0.53151	0.958	P	0.53146	0.719	D	0.94139	0.7395	10	0.72032	D	0.01	-14.0064	14.0684	0.64847	0.0:0.9282:0.0:0.0718	.	771	Q9HBG4	VPP4_HUMAN	V	771	ENSP00000308122:G771V;ENSP00000376774:G771V;ENSP00000253856:G771V	ENSP00000308122:G771V	G	-	2	0	ATP6V0A4	138045026	1.000000	0.71417	0.987000	0.45799	0.086000	0.17979	4.957000	0.63652	2.694000	0.91930	0.655000	0.94253	GGC		0.493	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		24	94	1	0	8.58068e-18	0.007291	1.40879e-17	24	94				
CNTNAP2	26047	broad.mit.edu	37	7	147869430	147869430	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:147869430C>G	ENST00000361727.3	+	18	3386	c.2870C>G	c.(2869-2871)tCt>tGt	p.S957C	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.S16C	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	957	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.S957C(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAGGTCACATCTGGGTTCATA	0.552										HNSCC(39;0.1)																													uc003weu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2869-2871)TCT>TGT		cell recognition molecule Caspr2 precursor							108.0	102.0	104.0					7																	147869430		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147869430C>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2870C>G	7.37:g.147869430C>G	ENSP00000354778:p.Ser957Cys	HNSCC(39;0.1)					p.S957C	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		18	3386	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	957			Laminin G-like 3.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2870C>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.125147	0.56721	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.76839	-1.05;-1.05	5.28	4.28	0.50868	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.195731	0.38837	N	0.001544	T	0.82024	0.4947	M	0.81942	2.565	0.25490	N	0.987655	D	0.58620	0.983	P	0.51193	0.662	T	0.76517	-0.2930	10	0.59425	D	0.04	.	10.8166	0.46580	0.0:0.8714:0.0:0.1286	.	957	Q9UHC6	CNTP2_HUMAN	C	957;16	ENSP00000354778:S957C;ENSP00000440732:S16C	ENSP00000354778:S957C	S	+	2	0	CNTNAP2	147500363	0.979000	0.34478	0.614000	0.29051	0.964000	0.63967	2.611000	0.46334	2.483000	0.83821	0.563000	0.77884	TCT		0.552	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			11	71	0	0	0	0.008291	0	11	71				
CNTNAP2	26047	broad.mit.edu	37	7	147926752	147926752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:147926752C>T	ENST00000361727.3	+	20	3778	c.3262C>T	c.(3262-3264)Cga>Tga	p.R1088*	CNTNAP2_ENST00000538075.1_Nonsense_Mutation_p.R147*	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1088	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R1088*(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTACAGATTCGATACAACCT	0.443										HNSCC(39;0.1)																													uc003weu.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(3262-3264)CGA>TGA		cell recognition molecule Caspr2 precursor							92.0	90.0	91.0					7																	147926752		2203	4300	6503	SO:0001587	stop_gained	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147926752C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3262C>T	7.37:g.147926752C>T	ENSP00000354778:p.Arg1088*	HNSCC(39;0.1)					p.R1088*	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		20	3778	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1088			Laminin G-like 4.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Nonsense_Mutation	SNP	ENST00000361727.3	37	c.3262C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	41	9.071407	0.99055	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	.	.	.	5.66	4.77	0.60923	.	0.072112	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	13.7958	0.63171	0.1544:0.8456:0.0:0.0	.	.	.	.	X	1088;147	.	ENSP00000354778:R1088X	R	+	1	2	CNTNAP2	147557685	1.000000	0.71417	0.679000	0.29978	0.798000	0.45092	4.981000	0.63819	1.391000	0.46566	0.455000	0.32223	CGA		0.443	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			9	55	0	0	0	0.006214	0	9	55				
REPIN1	29803	broad.mit.edu	37	7	150069696	150069696	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:150069696G>A	ENST00000425389.2	+	1	1444	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N	REPIN1_ENST00000540729.1_Missense_Mutation_p.D456N|REPIN1_ENST00000489432.2_Missense_Mutation_p.D513N|REPIN1_ENST00000444957.1_Missense_Mutation_p.D456N|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000397281.2_Missense_Mutation_p.D456N|REPIN1_ENST00000479668.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	456					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D456N(2)|p.D513N(2)		cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCACGCCCCCGATCGGCCCTT	0.731																																							uc010lpq.1		NA																	4	Substitution - Missense(4)		cervix(2)|lung(2)	pancreas(1)	1						c.(1366-1368)GAT>AAT		replication initiator 1 isoform 1							16.0	21.0	20.0					7																	150069696		2154	4246	6400	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069696G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1366G>A	7.37:g.150069696G>A	ENSP00000388287:p.Asp456Asn					REPIN1_uc003whd.2_Missense_Mutation_p.D445N|REPIN1_uc010lpr.1_Missense_Mutation_p.D513N|REPIN1_uc003whc.2_Missense_Mutation_p.D456N|REPIN1_uc003whe.2_Missense_Mutation_p.D456N	p.D456N	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1855	+	Ovarian(565;0.183)|Melanoma(164;0.226)		456					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.1366G>A	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339800	0.41398	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	4.11	4.11	0.48088	Zinc finger, C2H2 (1);	.	.	.	.	T	0.13415	0.0325	L	0.31420	0.93	0.80722	D	1	P;P	0.37038	0.579;0.486	B;B	0.33196	0.159;0.079	T	0.09143	-1.0688	9	0.87932	D	0	-10.6122	13.8973	0.63781	0.0:0.0:1.0:0.0	.	513;456	C9J3L7;Q9BWE0	.;REPI1_HUMAN	N	456;456;456;513;456	ENSP00000445016:D456N;ENSP00000380451:D456N;ENSP00000407714:D456N;ENSP00000417291:D513N;ENSP00000388287:D456N	ENSP00000380451:D456N	D	+	1	0	REPIN1	149700629	0.522000	0.26266	0.966000	0.40874	0.495000	0.33615	2.295000	0.43576	2.142000	0.66516	0.462000	0.41574	GAT		0.731	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		4	23	0	0	0	0.009096	0	4	23				
ZNF775	285971	broad.mit.edu	37	7	150094415	150094415	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:150094415C>G	ENST00000329630.5	+	3	953	c.846C>G	c.(844-846)atC>atG	p.I282M		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I282M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		gccAGTTCATCTGCAACGAGT	0.731																																							uc003whf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(844-846)ATC>ATG		zinc finger protein 775							14.0	17.0	16.0					7																	150094415		2132	4235	6367	SO:0001583	missense	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094415C>G	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.846C>G	7.37:g.150094415C>G	ENSP00000330838:p.Ile282Met						p.I282M	NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	971	+	Ovarian(565;0.183)|Melanoma(164;0.226)		282			C2H2-type 5.		Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	c.846C>G	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663043	0.47572	.	.	ENSG00000196456	ENST00000329630	T	0.28895	1.59	4.15	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21962	0.0529	N	0.19112	0.55	0.28870	N	0.895025	P	0.50617	0.937	P	0.48166	0.569	T	0.11494	-1.0585	8	.	.	.	.	6.1544	0.20330	0.3223:0.5833:0.0:0.0944	.	282	Q96BV0	ZN775_HUMAN	M	282	ENSP00000330838:I282M	.	I	+	3	3	ZNF775	149725348	0.005000	0.15991	1.000000	0.80357	0.766000	0.43426	0.114000	0.15520	0.370000	0.24538	-0.657000	0.03884	ATC		0.731	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		3	18	0	0	0	0.009096	0	3	18				
GIMAP8	155038	broad.mit.edu	37	7	150167962	150167962	+	Splice_Site	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:150167962G>T	ENST00000307271.3	+	3	1256	c.682G>T	c.(682-684)Ggc>Tgc	p.G228C		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	228						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.G228R(1)|p.G228C(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAAGCCACAGGGTAAGTTGAT	0.378																																							uc003whj.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(682-684)GGC>TGC		GTPase, IMAP family member 8							111.0	100.0	104.0					7																	150167962		2203	4300	6503	SO:0001630	splice_region_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150167962G>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.682+1G>T	7.37:g.150167962G>T							p.G228C	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	3	1012	+			228						Missense_Mutation	SNP	ENST00000307271.3	37	c.682G>T	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964053	0.53507	.	.	ENSG00000171115	ENST00000307271	T	0.06218	3.33	3.33	3.33	0.38152	.	0.766571	0.11080	N	0.601911	T	0.17450	0.0419	L	0.47190	1.495	0.37799	D	0.927631	D	0.89917	1.0	D	0.75020	0.985	T	0.03922	-1.0992	10	0.66056	D	0.02	.	10.44	0.44460	0.0:0.0:1.0:0.0	.	228	Q8ND71	GIMA8_HUMAN	C	228	ENSP00000305107:G228C	ENSP00000305107:G228C	G	+	1	0	GIMAP8	149798895	0.975000	0.34042	0.977000	0.42913	0.068000	0.16541	2.493000	0.45320	2.197000	0.70478	0.650000	0.86243	GGC		0.378	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571	Missense_Mutation	8	44	1	0	0.000274275	0.004482	0.000318342	8	44				
GIMAP8	155038	broad.mit.edu	37	7	150174463	150174463	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:150174463G>A	ENST00000307271.3	+	5	2167	c.1593G>A	c.(1591-1593)gtG>gtA	p.V531V		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	531	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.V531V(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTGTCCTGGTGTTCCAGCTGG	0.493																																							uc003whj.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1591-1593)GTG>GTA		GTPase, IMAP family member 8							79.0	73.0	75.0					7																	150174463		2203	4300	6503	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174463G>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1593G>A	7.37:g.150174463G>A							p.V531V	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	1923	+			531						Silent	SNP	ENST00000307271.3	37	c.1593G>A	CCDS34777.1																																																																																				0.493	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		15	32	0	0	0	0.003163	0	15	32				
GIMAP2	26157	broad.mit.edu	37	7	150389659	150389659	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:150389659G>A	ENST00000223293.5	+	3	379	c.285G>A	c.(283-285)gtG>gtA	p.V95V		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	95	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)	p.V95V(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		acaaagaggtgcagaggtgct	0.527																																							uc003who.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(283-285)GTG>GTA		GTPase, IMAP family member 2							64.0	61.0	62.0					7																	150389659		2203	4300	6503	SO:0001819	synonymous_variant	26157					integral to membrane	GTP binding	g.chr7:150389659G>A	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.285G>A	7.37:g.150389659G>A						GIMAP1_uc003whp.2_Intron	p.V95V	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	373	+			95					Q96L25	Silent	SNP	ENST00000223293.5	37	c.285G>A	CCDS5905.1																																																																																				0.527	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660		7	37	0	0	0	0.001984	0	7	37				
KMT2C	58508	broad.mit.edu	37	7	151945153	151945153	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:151945153G>A	ENST00000262189.6	-	14	2584	c.2366C>T	c.(2365-2367)tCa>tTa	p.S789L	KMT2C_ENST00000355193.2_Missense_Mutation_p.S789L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	789					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)	p.S789L(2)									AGGCAAGTCTGAAGAAGGTGT	0.433																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2365-2367)TCA>TTA		myeloid/lymphoid or mixed-lineage leukemia 3							424.0	382.0	396.0					7																	151945153		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.chr7:151945153G>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.2366C>T	7.37:g.151945153G>A	ENSP00000262189:p.Ser789Leu						p.S789L	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	2585	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	789					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2366C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006649	0.35415	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83250	-1.69;-1.7	5.68	3.65	0.41850	.	0.853718	0.09546	N	0.787602	T	0.68513	0.3009	N	0.20986	0.625	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.60276	-0.7295	10	0.18710	T	0.47	.	4.1454	0.10214	0.4662:0.0:0.5338:0.0	.	789	Q8NEZ4	MLL3_HUMAN	L	789	ENSP00000262189:S789L;ENSP00000347325:S789L	ENSP00000262189:S789L	S	-	2	0	MLL3	151576086	0.962000	0.33011	0.683000	0.30040	0.826000	0.46750	2.821000	0.48065	1.401000	0.46761	0.650000	0.86243	TCA		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			31	385	0	0	0	0.002445	0	31	385				
KMT2C	58508	broad.mit.edu	37	7	151945231	151945231	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:151945231G>A	ENST00000262189.6	-	14	2506	c.2288C>T	c.(2287-2289)tCa>tTa	p.S763L	KMT2C_ENST00000355193.2_Missense_Mutation_p.S763L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	763					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)	p.S763L(2)									TGTCTCAGATGATAACTTTAT	0.418																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2287-2289)TCA>TTA		myeloid/lymphoid or mixed-lineage leukemia 3							130.0	117.0	121.0					7																	151945231		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.chr7:151945231G>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.2288C>T	7.37:g.151945231G>A	ENSP00000262189:p.Ser763Leu						p.S763L	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	2507	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	763					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2288C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	5.354	0.250689	0.10130	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82984	-1.67;-1.67	5.68	4.81	0.61882	.	0.784503	0.10443	N	0.674043	T	0.71143	0.3305	N	0.08118	0	0.80722	D	1	B	0.17038	0.02	B	0.16722	0.016	T	0.59899	-0.7367	10	0.37606	T	0.19	.	14.8667	0.70422	0.069:0.0:0.931:0.0	.	763	Q8NEZ4	MLL3_HUMAN	L	763	ENSP00000262189:S763L;ENSP00000347325:S763L	ENSP00000262189:S763L	S	-	2	0	MLL3	151576164	0.102000	0.21896	0.002000	0.10522	0.013000	0.08279	2.770000	0.47662	1.403000	0.46800	-0.143000	0.13931	TCA		0.418	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			21	125	0	0	0	0.001882	0	21	125				
MYOM2	9172	broad.mit.edu	37	8	2092729	2092729	+	Missense_Mutation	SNP	G	G	T	rs199613705		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:2092729G>T	ENST00000262113.4	+	37	4363	c.4222G>T	c.(4222-4224)Gtg>Ttg	p.V1408L	MYOM2_ENST00000523438.1_Missense_Mutation_p.V833L|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1408	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.V1408M(1)|p.V1408L(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CATCAAAGGCGTGACCTCCGA	0.532																																							uc003wpx.3		NA																	2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4222-4224)GTG>TTG		myomesin 2							126.0	103.0	111.0					8																	2092729		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2092729G>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4222G>T	8.37:g.2092729G>T	ENSP00000262113:p.Val1408Leu					MYOM2_uc011kwi.1_Missense_Mutation_p.V833L	p.V1408L	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	37	4360	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1408			Ig-like C2-type 5.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.4222G>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427483	0.83667	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.70986	-0.53;-0.53	5.35	5.35	0.76521	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	M	0.71920	2.185	0.58432	D	0.999996	P	0.35050	0.482	B	0.38803	0.282	T	0.75668	-0.3238	10	0.51188	T	0.08	.	19.4438	0.94838	0.0:0.0:1.0:0.0	.	1408	P54296	MYOM2_HUMAN	L	1408;833	ENSP00000262113:V1408L;ENSP00000428396:V833L	ENSP00000262113:V1408L	V	+	1	0	MYOM2	2080136	1.000000	0.71417	0.597000	0.28824	0.976000	0.68499	9.446000	0.97590	2.655000	0.90218	0.655000	0.94253	GTG		0.532	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		9	40	1	0	2.17888e-05	0.006214	2.74029e-05	9	40				
TEX15	56154	broad.mit.edu	37	8	30694318	30694318	+	Splice_Site	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:30694318C>A	ENST00000256246.2	-	3	8407		c.e3+1			NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15						fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.?(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTGAAACTCACCATAAACCCA	0.373																																							uc003xil.2		NA																	1	Unknown(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.e3+1		testis expressed 15							96.0	94.0	95.0					8																	30694318		2203	4300	6503	SO:0001630	splice_region_variant	56154							g.chr8:30694318C>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.8332+1G>T	8.37:g.30694318C>A							p.A2778_splice	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	8332	-									Splice_Site	SNP	ENST00000256246.2	37	c.8332_splice	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047580	0.55110	.	.	ENSG00000133863	ENST00000256246	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3642	0.66795	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TEX15	30813860	0.998000	0.40836	0.997000	0.53966	0.716000	0.41182	3.814000	0.55643	2.665000	0.90641	0.585000	0.79938	.		0.373	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		Intron	8	71	1	0	5.4927e-09	0.004482	7.93586e-09	8	71				
HTRA4	203100	broad.mit.edu	37	8	38835503	38835503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:38835503C>A	ENST00000302495.4	+	4	903	c.803C>A	c.(802-804)tCa>tAa	p.S268*		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	268	Serine protease.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.S268*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CTGGGAAGATCATCTGACCTT	0.512																																							uc003xmj.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(802-804)TCA>TAA		HtrA serine peptidase 4 precursor							140.0	115.0	124.0					8																	38835503		2203	4300	6503	SO:0001587	stop_gained	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38835503C>A	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.803C>A	8.37:g.38835503C>A	ENSP00000305919:p.Ser268*						p.S268*	NM_153692	NP_710159	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		4	918	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	268			Serine protease.		Q542Z4|Q6PF13	Nonsense_Mutation	SNP	ENST00000302495.4	37	c.803C>A	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	C	38	6.724695	0.97792	.	.	ENSG00000169495	ENST00000302495	.	.	.	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.1306	18.7552	0.91830	0.0:1.0:0.0:0.0	.	.	.	.	X	268	.	ENSP00000305919:S268X	S	+	2	0	HTRA4	38954660	1.000000	0.71417	0.992000	0.48379	0.844000	0.47949	7.775000	0.85489	2.723000	0.93209	0.655000	0.94253	TCA		0.512	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		12	99	1	0	1.15088e-07	0.004007	1.59393e-07	12	99				
ANK1	286	broad.mit.edu	37	8	41572557	41572557	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:41572557G>A	ENST00000347528.4	-	15	1721	c.1638C>T	c.(1636-1638)taC>taT	p.Y546Y	ANK1_ENST00000379758.2_Silent_p.Y546Y|ANK1_ENST00000352337.4_Silent_p.Y546Y|ANK1_ENST00000396945.1_Silent_p.Y546Y|ANK1_ENST00000396942.1_Silent_p.Y546Y|ANK1_ENST00000289734.7_Silent_p.Y546Y|ANK1_ENST00000265709.8_Silent_p.Y579Y	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	546	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.Y546Y(1)|p.Y579Y(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCACCTTCCCGTACTTGGCCG	0.632																																							uc003xok.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(1636-1638)TAC>TAT		ankyrin 1 isoform 1							69.0	70.0	70.0					8																	41572557		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41572557G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1638C>T	8.37:g.41572557G>A						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.Y546Y|ANK1_uc003xoj.2_Silent_p.Y546Y|ANK1_uc003xol.2_Silent_p.Y546Y|ANK1_uc003xom.2_Silent_p.Y579Y	p.Y546Y	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		15	1722	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	546			89 kDa domain.|ANK 16.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.1638C>T	CCDS6119.1																																																																																				0.632	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		7	76	0	0	0	0.006214	0	7	76				
PRKDC	5591	broad.mit.edu	37	8	48719705	48719705	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:48719705C>A	ENST00000314191.2	-	70	9793	c.9737G>T	c.(9736-9738)cGg>cTg	p.R3246L	PRKDC_ENST00000338368.3_Missense_Mutation_p.R3246L|PRKDC_ENST00000523565.1_5'UTR|Y_RNA_ENST00000384719.1_RNA	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3247	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.R3247L(1)|p.R3246L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CACCTGCTTCCGGGCACTGTC	0.448								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(9739-9741)CGG>CTG	NHEJ	protein kinase, DNA-activated, catalytic							80.0	81.0	81.0					8																	48719705		1959	4149	6108	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48719705C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9737G>T	8.37:g.48719705C>A	ENSP00000313420:p.Arg3246Leu					PRKDC_uc003xqj.2_Missense_Mutation_p.R3247L|PRKDC_uc011ldh.1_Intron	p.R3247L	NM_006904	NP_008835	P78527	PRKDC_HUMAN			70	9797	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3247			FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.9740G>T		.	.	.	.	.	.	.	.	.	.	C	9.652	1.141817	0.21205	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.80304	-1.36;-1.36	5.88	5.01	0.66863	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.415449	0.26773	N	0.022569	T	0.79828	0.4513	M	0.68952	2.095	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.20767	0.019;0.031	T	0.70908	-0.4744	10	0.51188	T	0.08	.	14.9022	0.70687	0.0:0.9316:0.0:0.0684	.	3246;3247	E7EUY0;P78527	.;PRKDC_HUMAN	L	3246	ENSP00000313420:R3246L;ENSP00000345182:R3246L	ENSP00000313420:R3246L	R	-	2	0	PRKDC	48882258	0.919000	0.31177	0.003000	0.11579	0.122000	0.20287	5.359000	0.66074	1.483000	0.48342	0.655000	0.94253	CGG		0.448	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		4	34	1	0	0.00909568	0.009096	0.00978951	4	34				
PXDNL	137902	broad.mit.edu	37	8	52336217	52336217	+	Silent	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:52336217C>G	ENST00000356297.4	-	14	1813	c.1713G>C	c.(1711-1713)ggG>ggC	p.G571G	PXDNL_ENST00000543296.1_Silent_p.G571G	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	571	Ig-like C2-type 4.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.G571G(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTCAGGGAACCCTGCGTCGT	0.483																																							uc003xqu.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1711-1713)GGG>GGC		peroxidasin homolog-like precursor							113.0	125.0	121.0					8																	52336217		2160	4261	6421	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52336217C>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1713G>C	8.37:g.52336217C>G							p.G571G	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			14	1814	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	571			Ig-like C2-type 4.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.1713G>C	CCDS47855.1																																																																																				0.483	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		4	34	0	0	0	0.009096	0	4	34				
ST18	9705	broad.mit.edu	37	8	53045828	53045828	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:53045828G>T	ENST00000276480.7	-	20	3017	c.2334C>A	c.(2332-2334)caC>caA	p.H778Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	778					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.H778Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTCCAGTCACGTGCCCCGAGC	0.517																																							uc003xqz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2332-2334)CAC>CAA		suppression of tumorigenicity 18							96.0	88.0	90.0					8																	53045828		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53045828G>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2334C>A	8.37:g.53045828G>T	ENSP00000276480:p.His778Gln					ST18_uc011ldq.1_Missense_Mutation_p.H425Q|ST18_uc011ldr.1_Missense_Mutation_p.H743Q|ST18_uc011lds.1_Missense_Mutation_p.H683Q|ST18_uc003xra.2_Missense_Mutation_p.H778Q	p.H778Q	NM_014682	NP_055497	O60284	ST18_HUMAN			15	2490	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	778			C2HC-type 4.		Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2334C>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923690	0.73213	.	.	ENSG00000147488	ENST00000276480	T	0.68331	-0.32	5.91	-10.2	0.00374	.	0.000000	0.85682	D	0.000000	T	0.81527	0.4841	M	0.92459	3.31	0.50813	D	0.999895	D	0.89917	1.0	D	0.97110	1.0	D	0.90230	0.4278	10	0.87932	D	0	-18.926	17.8027	0.88592	0.4996:0.0:0.5004:0.0	.	778	O60284	ST18_HUMAN	Q	778	ENSP00000276480:H778Q	ENSP00000276480:H778Q	H	-	3	2	ST18	53208381	0.022000	0.18835	0.298000	0.25002	0.839000	0.47603	-0.618000	0.05578	-2.298000	0.00660	-0.302000	0.09304	CAC		0.517	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			8	66	1	0	4.68919e-08	0.008291	6.61615e-08	8	66				
ARFGEF1	10565	broad.mit.edu	37	8	68179364	68179364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:68179364C>A	ENST00000262215.3	-	12	2163	c.1774G>T	c.(1774-1776)Gga>Tga	p.G592*	ARFGEF1_ENST00000520381.1_Nonsense_Mutation_p.G46*	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	592					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.G592*(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTGCCCCTTCCTTGAGCAATT	0.328																																							uc003xxo.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(1774-1776)GGA>TGA		brefeldin A-inhibited guanine							86.0	87.0	86.0					8																	68179364		2202	4299	6501	SO:0001587	stop_gained	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68179364C>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1774G>T	8.37:g.68179364C>A	ENSP00000262215:p.Gly592*					ARFGEF1_uc003xxl.1_Nonsense_Mutation_p.G46*	p.G592*	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		12	2164	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	592					Q9NV46|Q9UFV2|Q9UNL0	Nonsense_Mutation	SNP	ENST00000262215.3	37	c.1774G>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	44	10.849663	0.99477	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.7032	0.96063	0.0:1.0:0.0:0.0	.	.	.	.	X	46;592	.	ENSP00000262215:G592X	G	-	1	0	ARFGEF1	68341918	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.663000	0.90544	0.650000	0.86243	GGA		0.328	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		12	71	1	0	1.5842e-08	0.001855	2.24927e-08	12	71				
PRDM14	63978	broad.mit.edu	37	8	70978624	70978624	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:70978624C>A	ENST00000276594.2	-	5	1230	c.1029G>T	c.(1027-1029)caG>caT	p.Q343H		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	343	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.Q343H(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCCCTTGACACTGCACAGCAA	0.458																																					NSCLC(129;99 1813 5906 40656 46114)	NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1027-1029)CAG>CAT		PR domain containing 14							121.0	115.0	117.0					8																	70978624		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70978624C>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1029G>T	8.37:g.70978624C>A	ENSP00000276594:p.Gln343His						p.Q343H	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		5	1231	-	Breast(64;0.193)		343			SET.		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.1029G>T	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783299	0.70222	.	.	ENSG00000147596	ENST00000276594	T	0.81163	-1.46	5.75	-0.117	0.13551	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.89350	0.6690	M	0.90145	3.09	0.53005	D	0.999964	D	0.89917	1.0	D	0.97110	1.0	D	0.87579	0.2483	10	0.72032	D	0.01	-28.5304	10.3344	0.43841	0.0:0.6262:0.0:0.3738	.	343	Q9GZV8	PRD14_HUMAN	H	343	ENSP00000276594:Q343H	ENSP00000276594:Q343H	Q	-	3	2	PRDM14	71141178	1.000000	0.71417	0.877000	0.34402	0.989000	0.77384	1.188000	0.32102	-0.335000	0.08451	0.655000	0.94253	CAG		0.458	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			18	96	1	0	0.00074312	0.006122	0.000849415	18	96				
MSC	9242	broad.mit.edu	37	8	72754968	72754968	+	Silent	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:72754968C>T	ENST00000325509.4	-	2	838	c.549G>A	c.(547-549)gtG>gtA	p.V183V	RP11-383H13.1_ENST00000524152.1_5'Flank|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_5'Flank|MSC_ENST00000518440.1_5'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	183					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.V183V(1)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TTCCCGAGACCACGAATGGCC	0.473																																							uc003xyx.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(547-549)GTG>GTA		musculin							260.0	257.0	258.0					8																	72754968		1927	4136	6063	SO:0001819	synonymous_variant	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72754968C>T		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.549G>A	8.37:g.72754968C>T						uc011lff.1_5'Flank|uc003xyy.2_5'Flank	p.V183V	NM_005098	NP_005089	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		2	867	-	Breast(64;0.176)		183					O75946|Q53XZ2|Q9BRE7	Silent	SNP	ENST00000325509.4	37	c.549G>A	CCDS43746.1																																																																																				0.473	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		39	371	0	0	0	0.002852	0	39	371				
CA1	759	broad.mit.edu	37	8	86249255	86249255	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:86249255G>A	ENST00000523953.1	-	5	1319	c.273C>T	c.(271-273)ctC>ctT	p.L91L	CA1_ENST00000523022.1_Silent_p.L91L|CA1_ENST00000432364.2_Silent_p.L91L|CA1_ENST00000256119.5_Silent_p.L91L|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000431316.1_Silent_p.L91L|CA1_ENST00000542576.1_Silent_p.L91L|CA1_ENST00000522389.1_Intron			P00915	CAH1_HUMAN	carbonic anhydrase I	91					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.L91L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GGAACTGAAAGAGCCTGTAGC	0.428																																							uc003ydh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(271-273)CTC>CTT		carbonic anhydrase I	Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)						109.0	105.0	106.0					8																	86249255		2203	4300	6503	SO:0001819	synonymous_variant	759				one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	g.chr8:86249255G>A	M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.273C>T	8.37:g.86249255G>A						CA13_uc003ydf.1_Intron|CA1_uc010mae.1_Silent_p.L91L|CA1_uc003ydi.2_Silent_p.L91L	p.L91L	NM_001738	NP_001729	P00915	CAH1_HUMAN			5	473	-		all_lung(136;4.89e-06)	91						Silent	SNP	ENST00000523953.1	37	c.273C>T	CCDS6237.1	.	.	.	.	.	.	.	.	.	.	G	3.541	-0.093609	0.07053	.	.	ENSG00000133742	ENST00000521679	T	0.73363	-0.74	5.44	-3.36	0.04913	.	0.062767	0.64402	D	0.000006	T	0.74635	0.3742	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71540	-0.4562	7	0.59425	D	0.04	-20.4805	8.3931	0.32540	0.3412:0.4816:0.1773:0.0	.	.	.	.	F	28	ENSP00000429300:L28F	ENSP00000429300:L28F	L	-	1	0	CA1	86436507	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.607000	0.05648	-0.587000	0.05890	-0.133000	0.14855	CTT		0.428	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		5	68	0	0	0	0.000602	0	5	68				
KIAA1429	25962	broad.mit.edu	37	8	95539232	95539232	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:95539232C>A	ENST00000297591.5	-	8	1315	c.1240G>T	c.(1240-1242)Ggg>Tgg	p.G414W	KIAA1429_ENST00000421249.2_Missense_Mutation_p.G414W|KIAA1429_ENST00000437199.1_Missense_Mutation_p.G414W	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	414					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G414W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TAGCTTAACCCTTTTATTATT	0.373																																							uc003ygo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1240-1242)GGG>TGG		hypothetical protein LOC25962 isoform 1							95.0	96.0	96.0					8																	95539232		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95539232C>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1240G>T	8.37:g.95539232C>A	ENSP00000297591:p.Gly414Trp					KIAA1429_uc003ygp.2_Missense_Mutation_p.G414W|KIAA1429_uc010maz.1_RNA	p.G414W	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1253	-	Breast(36;3.29e-05)		414					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.1240G>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774285	0.69992	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.58060	0.56;0.39;0.36	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	M	0.64997	1.995	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.77004	0.989;0.989	T	0.73275	-0.4034	10	0.87932	D	0	-17.6887	19.9135	0.97033	0.0:1.0:0.0:0.0	.	414;414	Q69YN4-4;Q69YN4	.;VIR_HUMAN	W	414	ENSP00000297591:G414W;ENSP00000395600:G414W;ENSP00000398390:G414W	ENSP00000297591:G414W	G	-	1	0	KIAA1429	95608408	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.711000	0.92665	0.591000	0.81541	GGG		0.373	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		7	102	1	0	0.000157383	0.00308	0.00018675	7	102				
VPS13B	157680	broad.mit.edu	37	8	100789079	100789079	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:100789079G>A	ENST00000358544.2	+	41	7510	c.7399G>A	c.(7399-7401)Gtt>Att	p.V2467I	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.V2442I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2467					protein transport (GO:0015031)			p.V2467I(1)|p.V2442I(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGTACCAGAGTTGACTCCTG	0.478																																					Colon(161;2205 2542 7338 31318)	Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(7399-7401)GTT>ATT		vacuolar protein sorting 13B isoform 5							242.0	191.0	208.0					8																	100789079		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100789079G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7399G>A	8.37:g.100789079G>A	ENSP00000351346:p.Val2467Ile					VPS13B_uc003yiw.2_Missense_Mutation_p.V2442I	p.V2467I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		41	7510	+	Breast(36;3.73e-07)		2467					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.7399G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022017	0.75275	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72394	-0.65;-0.65	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	L	0.34521	1.04	0.80722	D	1	D;B	0.67145	0.996;0.058	D;B	0.77557	0.99;0.017	T	0.73927	-0.3828	10	0.34782	T	0.22	.	14.6389	0.68708	0.0718:0.0:0.9282:0.0	.	2442;2467	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	I	2442;2467	ENSP00000349685:V2442I;ENSP00000351346:V2467I	ENSP00000349685:V2442I	V	+	1	0	VPS13B	100858255	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	8.014000	0.88676	2.583000	0.87209	0.650000	0.86243	GTT		0.478	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		10	158	0	0	0	0.006214	0	10	158				
RIMS2	9699	broad.mit.edu	37	8	104898002	104898002	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:104898002C>T	ENST00000436393.2	+	2	750	c.509C>T	c.(508-510)tCa>tTa	p.S170L	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.S392L|RIMS2_ENST00000507740.1_Missense_Mutation_p.S200L|RIMS2_ENST00000262231.10_Missense_Mutation_p.S200L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	423	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.S200L(2)|p.S392L(1)|p.S170L(1)|p.S428L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GATCGACCATCAAGGCAAAGA	0.453										HNSCC(12;0.0054)																													uc003yls.2		NA																	5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(508-510)TCA>TTA		regulating synaptic membrane exocytosis 2							73.0	72.0	72.0					8																	104898002		1932	4122	6054	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898002C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.509C>T	8.37:g.104898002C>T	ENSP00000390665:p.Ser170Leu	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.S392L|RIMS2_uc003ylw.2_Missense_Mutation_p.S200L|RIMS2_uc003ylq.2_Missense_Mutation_p.S200L|RIMS2_uc003ylr.2_Missense_Mutation_p.S200L	p.S170L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	750	+			423					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.509C>T		.	.	.	.	.	.	.	.	.	.	C	21.2	4.108290	0.77096	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.32	5.32	0.75619	.	.	.	.	.	T	0.51534	0.1680	L	0.43152	1.355	0.80722	D	1	B;D;D;D;D	0.69078	0.23;0.99;0.97;0.997;0.991	B;D;P;P;P	0.63957	0.082;0.92;0.798;0.899;0.798	T	0.42361	-0.9456	9	0.37606	T	0.19	.	18.9862	0.92771	0.0:1.0:0.0:0.0	.	423;170;200;200;392	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	L	392;423;392;423;200;200;200;200;170	ENSP00000427018:S392L;ENSP00000384892:S392L;ENSP00000425205:S200L;ENSP00000262231:S200L;ENSP00000423559:S200L;ENSP00000386228:S200L;ENSP00000390665:S170L	ENSP00000262231:S200L	S	+	2	0	RIMS2	104967178	1.000000	0.71417	0.975000	0.42487	0.904000	0.53231	6.823000	0.75282	2.479000	0.83701	0.467000	0.42956	TCA		0.453	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		9	35	0	0	0	0.004482	0	9	35				
DPYS	1807	broad.mit.edu	37	8	105463629	105463629	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:105463629C>A	ENST00000351513.2	-	2	400	c.268G>T	c.(268-270)Gct>Tct	p.A90S		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	90					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.A90S(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGAGAGAGCAGCCTGGAAT	0.448																																							uc003yly.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(268-270)GCT>TCT		dihydropyrimidinase							69.0	67.0	67.0					8																	105463629		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105463629C>A	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.268G>T	8.37:g.105463629C>A	ENSP00000276651:p.Ala90Ser						p.A90S	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	397	-			90						Missense_Mutation	SNP	ENST00000351513.2	37	c.268G>T	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723027	0.89298	.	.	ENSG00000147647	ENST00000351513	D	0.95656	-3.77	5.5	5.5	0.81552	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.98588	0.9528	H	0.96208	3.785	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.99084	1.0838	10	0.72032	D	0.01	-25.207	19.5916	0.95514	0.0:1.0:0.0:0.0	.	90	Q14117	DPYS_HUMAN	S	90	ENSP00000276651:A90S	ENSP00000276651:A90S	A	-	1	0	DPYS	105532805	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	7.320000	0.79064	2.861000	0.98227	0.655000	0.94253	GCT		0.448	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		6	45	1	0	2.0095e-06	0.001984	2.67637e-06	6	45				
PKHD1L1	93035	broad.mit.edu	37	8	110451183	110451183	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:110451183T>C	ENST00000378402.5	+	32	3922	c.3818T>C	c.(3817-3819)aTg>aCg	p.M1273T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1273	IPT/TIG 6.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.M1275T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACACAAAACATGGCGGTGTAT	0.338										HNSCC(38;0.096)																													uc003yne.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(3817-3819)ATG>ACG		fibrocystin L precursor							67.0	65.0	66.0					8																	110451183		1813	4074	5887	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110451183T>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3818T>C	8.37:g.110451183T>C	ENSP00000367655:p.Met1273Thr	HNSCC(38;0.096)					p.M1273T	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		32	3922	+			1273			Extracellular (Potential).|IPT/TIG 6.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.3818T>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	1.135	-0.651325	0.03506	.	.	ENSG00000205038	ENST00000378402	T	0.74737	-0.87	6.07	0.704	0.18121	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.799220	0.11663	N	0.541590	T	0.50000	0.1590	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33007	-0.9885	10	0.05721	T	0.95	.	0.4956	0.00571	0.2707:0.16:0.14:0.4293	.	1273	Q86WI1	PKHL1_HUMAN	T	1273	ENSP00000367655:M1273T	ENSP00000367655:M1273T	M	+	2	0	PKHD1L1	110520359	0.078000	0.21339	0.059000	0.19551	0.252000	0.25951	1.552000	0.36244	0.530000	0.28619	0.533000	0.62120	ATG		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		4	42	0	0	0	0.009096	0	4	42				
RAD21	5885	broad.mit.edu	37	8	117870687	117870687	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:117870687C>A	ENST00000297338.2	-	5	672	c.385G>T	c.(385-387)Gtg>Ttg	p.V129L	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	129					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.V129L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TGCTGGGCCACATCGATGTCA	0.318																																							uc003yod.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(385-387)GTG>TTG		RAD21 homolog							121.0	117.0	118.0					8																	117870687		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117870687C>A	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.385G>T	8.37:g.117870687C>A	ENSP00000297338:p.Val129Leu						p.V129L	NM_006265	NP_006256	O60216	RAD21_HUMAN			5	673	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		129					A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.385G>T	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097620	0.56075	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485	T;T;T	0.50813	0.73;1.62;1.62	5.75	5.75	0.90469	.	0.052073	0.85682	D	0.000000	T	0.45155	0.1328	M	0.63428	1.95	0.80722	D	1	B	0.21905	0.062	B	0.18561	0.022	T	0.49409	-0.8943	10	0.02654	T	1	-4.4755	19.9542	0.97213	0.0:1.0:0.0:0.0	.	129	O60216	RAD21_HUMAN	L	129	ENSP00000297338:V129L;ENSP00000429342:V129L;ENSP00000427923:V129L	ENSP00000297338:V129L	V	-	1	0	RAD21	117939868	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.728000	0.93425	0.650000	0.86243	GTG		0.318	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		15	144	1	0	2.23348e-06	0.004007	2.96158e-06	15	144				
C8orf76	84933	broad.mit.edu	37	8	124251334	124251334	+	Silent	SNP	G	G	C	rs374843957		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:124251334G>C	ENST00000276704.4	-	2	219	c.168C>G	c.(166-168)ctC>ctG	p.L56L	ZHX1-C8ORF76_ENST00000357082.4_Silent_p.L24L|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	56								p.L56L(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAATTTCTTGAGAGTCAGCA	0.398																																							uc003yqc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(166-168)CTC>CTG		hypothetical protein LOC84933		G	,	2,4404	4.2+/-10.8	0,2,2201	217.0	197.0	203.0		72,168	4.1	0.4	8		203	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C8orf76,ZHX1-C8ORF76	NM_001204180.1,NM_032847.2	,	0,2,6501	CC,CG,GG		0.0,0.0454,0.0154	,	24/293,56/381	124251334	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84933						binding	g.chr8:124251334G>C	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.168C>G	8.37:g.124251334G>C						C8orf76_uc003yqd.2_Silent_p.L24L	p.L56L	NM_032847	NP_116236	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		2	199	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		56					Q53HC1	Silent	SNP	ENST00000276704.4	37	c.168C>G	CCDS6341.1																																																																																				0.398	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		7	180	0	0	0	0.004482	0	7	180				
ASAP1	50807	broad.mit.edu	37	8	131104234	131104234	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:131104234C>A	ENST00000518721.1	-	25	2784	c.2557G>T	c.(2557-2559)Ggc>Tgc	p.G853C	ASAP1_ENST00000357668.1_Missense_Mutation_p.G853C	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	853	Pro-rich.				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)	p.G853C(1)		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						GGAACTGCGCCTTTGTTTGGG	0.607																																							uc003yta.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2557-2559)GGC>TGC		development and differentiation enhancing factor							99.0	109.0	106.0					8																	131104234		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.chr8:131104234C>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.2557G>T	8.37:g.131104234C>A	ENSP00000429900:p.Gly853Cys					ASAP1_uc003ysz.1_Missense_Mutation_p.G664C|ASAP1_uc011liw.1_Missense_Mutation_p.G846C	p.G853C	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			24	2585	-			853			Pro-rich.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2557G>T	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.997885|3.997885	0.74818|0.74818	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124	T;T|.	0.06294|.	3.32;3.32|.	5.48|5.48	4.59|4.59	0.56863|0.56863	.|.	0.453943|.	0.25587|.	N|.	0.029654|.	T|T	0.59197|0.59197	0.2176|0.2176	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	D;D;D|.	0.56746|.	0.961;0.961;0.977|.	P;P;P|.	0.59825|.	0.735;0.623;0.864|.	T|T	0.53746|0.53746	-0.8395|-0.8395	10|5	0.59425|.	D|.	0.04|.	.|.	13.1431|13.1431	0.59446|0.59446	0.0:0.9228:0.0:0.0772|0.0:0.9228:0.0:0.0772	.|.	853;853;856|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	C|M	856;853;853|673	ENSP00000350297:G853C;ENSP00000429900:G853C|.	ENSP00000344591:G856C|.	G|R	-|-	1|2	0|0	ASAP1|ASAP1	131173416|131173416	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	5.263000|5.263000	0.65507|0.65507	2.740000|2.740000	0.93945|0.93945	0.455000|0.455000	0.32223|0.32223	GGC|AGG		0.607	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		25	188	1	0	2.20474e-14	0.003755	3.52992e-14	25	188				
ADCY8	114	broad.mit.edu	37	8	131792956	131792956	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:131792956C>T	ENST00000286355.5	-	18	5528	c.3436G>A	c.(3436-3438)Gcc>Acc	p.A1146T	ADCY8_ENST00000377928.3_Missense_Mutation_p.A1015T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1146					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.A1146T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TAATCAAAGGCAAAGCCCTGG	0.502										HNSCC(32;0.087)																													uc003ytd.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3436-3438)GCC>ACC		adenylate cyclase 8							153.0	155.0	154.0					8																	131792956		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131792956C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3436G>A	8.37:g.131792956C>T	ENSP00000286355:p.Ala1146Thr	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.A1015T	p.A1146T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	3692	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1146			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.3436G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107612	0.56291	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.81247	-1.47;-1.47	5.79	5.79	0.91817	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.057057	0.64402	D	0.000002	T	0.65964	0.2742	N	0.03999	-0.3	0.46167	D	0.998909	B;B	0.22983	0.053;0.078	B;B	0.31290	0.127;0.089	T	0.62001	-0.6946	10	0.11794	T	0.64	.	19.0195	0.92908	0.0:1.0:0.0:0.0	.	1015;1146	E7EVL1;P40145	.;ADCY8_HUMAN	T	1146;1015	ENSP00000286355:A1146T;ENSP00000367161:A1015T	ENSP00000286355:A1146T	A	-	1	0	ADCY8	131862138	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.746000	0.94184	0.655000	0.94253	GCC		0.502	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			17	138	0	0	0	0.00499	0	17	138				
TG	7038	broad.mit.edu	37	8	134145810	134145810	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:134145810G>C	ENST00000220616.4	+	47	8134	c.8094G>C	c.(8092-8094)aaG>aaC	p.K2698N	TG_ENST00000542445.1_Missense_Mutation_p.K1068N|TG_ENST00000377869.1_Missense_Mutation_p.K2641N|TG_ENST00000519543.1_Missense_Mutation_p.K831N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2698					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.K2698N(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAACTACAAGGAGTTCAGTG	0.527																																							uc003ytw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(8092-8094)AAG>AAC		thyroglobulin precursor							114.0	106.0	109.0					8																	134145810		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134145810G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8094G>C	8.37:g.134145810G>C	ENSP00000220616:p.Lys2698Asn					TG_uc010mdw.2_Missense_Mutation_p.K1457N|TG_uc011ljb.1_Missense_Mutation_p.K1067N|TG_uc011ljc.1_Missense_Mutation_p.K831N	p.K2698N	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	47	8135	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2698					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.8094G>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.18|14.18	2.457976|2.457976	0.43634|0.43634	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107	.|T;T;T;T;T	.|0.58210	.|0.35;0.35;0.35;0.35;0.39	4.84|4.84	2.62|2.62	0.31277|0.31277	.|Carboxylesterase, type B (1);	.|0.206599	.|0.33959	.|N	.|0.004390	T|T	0.67059|0.67059	0.2853|0.2853	M|M	0.77616|0.77616	2.38|2.38	0.34568|0.34568	D|D	0.713129|0.713129	.|D;D;D	.|0.71674	.|0.998;0.995;0.998	.|D;D;D	.|0.69479	.|0.961;0.964;0.961	T|T	0.75720|0.75720	-0.3219|-0.3219	5|10	.|0.87932	.|D	.|0	.|.	7.7802|7.7802	0.29060|0.29060	0.2508:0.0:0.7492:0.0|0.2508:0.0:0.7492:0.0	.|.	.|831;1068;2698	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	R|N	1154|2641;1504;2698;817;1068;831;102	.|ENSP00000367100:K2641N;ENSP00000220616:K2698N;ENSP00000441693:K1068N;ENSP00000430430:K831N;ENSP00000430161:K102N	.|ENSP00000220616:K2698N	G|K	+|+	1|3	0|2	TG|TG	134214992|134214992	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.402000|0.402000	0.30811|0.30811	1.300000|1.300000	0.33436|0.33436	1.147000|1.147000	0.42369|0.42369	-0.224000|-0.224000	0.12420|0.12420	GGA|AAG		0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		7	54	0	0	0	0.00308	0	7	54				
ZFAT	57623	broad.mit.edu	37	8	135614084	135614084	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:135614084C>A	ENST00000377838.3	-	6	2052	c.1878G>T	c.(1876-1878)acG>acT	p.T626T	ZFAT_ENST00000520356.1_Silent_p.T614T|ZFAT_ENST00000429442.2_Silent_p.T614T|ZFAT_ENST00000520214.1_Silent_p.T614T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520727.1_Silent_p.T614T|ZFAT_ENST00000523399.1_Silent_p.T564T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	626					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T614T(1)|p.T626T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTCACCTTGCGTCTGGACTG	0.542																																							uc003yup.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1876-1878)ACG>ACT		zinc finger protein 406 isoform ZFAT-1							81.0	84.0	83.0					8																	135614084		2041	4209	6250	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614084C>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1878G>T	8.37:g.135614084C>A						ZFAT_uc003yun.2_Silent_p.T614T|ZFAT_uc003yuo.2_Silent_p.T614T|ZFAT_uc010meh.2_Silent_p.T614T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.T614T|ZFAT_uc010mej.2_Silent_p.T564T|ZFAT_uc003yur.2_Silent_p.T614T	p.T626T	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		6	2053	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		626					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.1878G>T	CCDS47924.1																																																																																				0.542	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		10	80	1	0	2.80697e-09	0.000978	4.09483e-09	10	80				
FAM135B	51059	broad.mit.edu	37	8	139163754	139163754	+	Silent	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:139163754A>T	ENST00000395297.1	-	13	3134	c.2964T>A	c.(2962-2964)acT>acA	p.T988T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	988								p.T988T(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AATGGGTCACAGTGGGGCACA	0.498										HNSCC(54;0.14)																													uc003yuy.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)	9						c.(2962-2964)ACT>ACA		hypothetical protein LOC51059							103.0	90.0	94.0					8																	139163754		2203	4300	6503	SO:0001819	synonymous_variant	51059							g.chr8:139163754A>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2964T>A	8.37:g.139163754A>T		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.T889T|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.T550T|FAM135B_uc003yvb.2_Silent_p.T550T	p.T988T	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3135	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		988					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.2964T>A	CCDS6375.2																																																																																				0.498	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		4	84	0	0	0	0.009096	0	4	84				
TRAPPC9	83696	broad.mit.edu	37	8	141231580	141231580	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:141231580G>C	ENST00000438773.2	-	17	2667	c.2534C>G	c.(2533-2535)gCa>gGa	p.A845G	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.A836G|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.A943G	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	845					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.A943G(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GTAGTCGCCTGCTTTGTTGCT	0.587																																							uc003yvj.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2533-2535)GCA>GGA		trafficking protein particle complex 9 isoform							153.0	123.0	133.0					8																	141231580		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141231580G>C	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2534C>G	8.37:g.141231580G>C	ENSP00000405060:p.Ala845Gly					TRAPPC9_uc003yvh.2_Missense_Mutation_p.A943G|TRAPPC9_uc010mel.1_Missense_Mutation_p.A266G|TRAPPC9_uc003yvi.1_Missense_Mutation_p.A836G	p.A845G	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN			17	2668	-			845					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.2534C>G	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.741|5.741	0.321234|0.321234	0.10845|0.10845	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773|ENST00000520857	.|.	.|.	.|.	5.5|5.5	3.68|3.68	0.42216|0.42216	.|.	1.101610|.	0.06834|.	N|.	0.794483|.	T|T	0.21962|0.21962	0.0529|0.0529	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.06786|.	0.0;0.0;0.0;0.001|.	B;B;B;B|.	0.08055|.	0.003;0.002;0.001;0.002|.	T|T	0.20940|0.20940	-1.0260|-1.0260	9|5	0.21014|.	T|.	0.42|.	.|.	8.0153|8.0153	0.30376|0.30376	0.0826:0.3058:0.6116:0.0|0.0826:0.3058:0.6116:0.0	.|.	943;845;836;943|.	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2|.	.;TPPC9_HUMAN;.;.|.	G|R	943;836;845|688	.|.	ENSP00000373978:A836G|.	A|S	-|-	2|3	0|2	TRAPPC9|TRAPPC9	141300762|141300762	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.295000|0.295000	0.27426|0.27426	0.537000|0.537000	0.23144|0.23144	0.769000|0.769000	0.33313|0.33313	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.587	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		10	71	0	0	0	0.000978	0	10	71				
AGO2	27161	broad.mit.edu	37	8	141545586	141545586	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:141545586C>A	ENST00000220592.5	-	17	2364	c.2252G>T	c.(2251-2253)tGt>tTt	p.C751F	AGO2_ENST00000519980.1_Intron	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	751	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.C751F(1)									AGCGTGACTACACAGGTAGAA	0.562																																							uc003yvn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2251-2253)TGT>TTT		argonaute 2 isoform 1							243.0	181.0	202.0					8																	141545586		2203	4300	6503	SO:0001583	missense	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	g.chr8:141545586C>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2252G>T	8.37:g.141545586C>A	ENSP00000220592:p.Cys751Phe					EIF2C2_uc010men.2_Missense_Mutation_p.C674F|EIF2C2_uc010meo.2_Intron	p.C751F	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		17	2292	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	751			Piwi.		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.2252G>T	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383961	0.82792	.	.	ENSG00000123908	ENST00000220592	T	0.33216	1.42	5.41	5.41	0.78517	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.71888	0.3393	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.82651	-0.0352	10	0.87932	D	0	-1.89	19.5458	0.95297	0.0:1.0:0.0:0.0	.	751	Q9UKV8	AGO2_HUMAN	F	751	ENSP00000220592:C751F	ENSP00000220592:C751F	C	-	2	0	EIF2C2	141614768	1.000000	0.71417	0.995000	0.50966	0.784000	0.44337	7.688000	0.84153	2.688000	0.91661	0.655000	0.94253	TGT		0.562	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			9	68	1	0	7.48243e-07	0.006214	1.00996e-06	9	68				
SLC45A4	57210	broad.mit.edu	37	8	142228200	142228200	+	Silent	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:142228200G>C	ENST00000024061.3	-	4	1693	c.1386C>G	c.(1384-1386)ctC>ctG	p.L462L	SLC45A4_ENST00000433583.2_Silent_p.L455L|SLC45A4_ENST00000519067.1_Silent_p.L462L|SLC45A4_ENST00000517878.1_Silent_p.L513L	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.L462L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGAGGTGGCAGAGGCACAGCC	0.642																																							uc003ywd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1384-1386)CTC>CTG		solute carrier family 45, member 4							75.0	67.0	69.0					8																	142228200		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142228200G>C	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1386C>G	8.37:g.142228200G>C						SLC45A4_uc003ywc.1_Silent_p.L462L|SLC45A4_uc010meq.1_Silent_p.L460L	p.L462L	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1694	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		513					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.1386C>G	CCDS34948.1																																																																																				0.642	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		3	30	0	0	0	0.004672	0	3	30				
SCRIB	23513	broad.mit.edu	37	8	144874231	144874231	+	Silent	SNP	C	C	A	rs539209785		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr8:144874231C>A	ENST00000320476.3	-	33	4593	c.4587G>T	c.(4585-4587)acG>acT	p.T1529T	RP11-429J17.8_ENST00000534089.1_RNA|RP11-429J17.8_ENST00000532625.1_RNA|SCRIB_ENST00000356994.2_Silent_p.T1529T|RP11-429J17.8_ENST00000527139.1_RNA|SCRIB_ENST00000377533.3_Silent_p.T1448T|SCRIB_ENST00000546337.1_5'Flank	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1529					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.T1529T(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGGCCCCCGCGTGCCCCGGC	0.697																																					Pancreas(51;966 1133 10533 14576 29674)	Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1		NA																	2	Substitution - coding silent(2)		lung(2)	urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(4585-4587)ACG>ACT		scribble isoform b							9.0	10.0	9.0					8																	144874231		2189	4282	6471	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144874231C>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4587G>T	8.37:g.144874231C>A						SCRIB_uc003yzn.1_Silent_p.T262T|SCRIB_uc003yzo.1_Silent_p.T1529T	p.T1529T	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		33	4594	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1529					Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.4587G>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	3.616	-0.078478	0.07184	.	.	ENSG00000180900	ENST00000526832	.	.	.	4.97	2.79	0.32731	.	.	.	.	.	T	0.56485	0.1988	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51934	-0.8642	4	.	.	.	.	7.9575	0.30051	0.1628:0.7382:0.0:0.099	.	.	.	.	S	549	.	.	A	-	1	0	SCRIB	144946219	1.000000	0.71417	0.129000	0.21949	0.434000	0.31775	1.472000	0.35376	1.095000	0.41419	-0.275000	0.10095	GCG		0.697	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		3	6	1	0	0.004672	0.004672	0.00509519	3	6				
RANBP6	26953	broad.mit.edu	37	9	6012421	6012421	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:6012421C>A	ENST00000259569.5	-	1	3197	c.3187G>T	c.(3187-3189)Gat>Tat	p.D1063Y	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	1063					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D1063Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GCACAAGGATCCTCATAGTTA	0.378																																							uc003zjr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3187-3189)GAT>TAT		RAN binding protein 6							91.0	84.0	86.0					9																	6012421		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012421C>A	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.3187G>T	9.37:g.6012421C>A	ENSP00000259569:p.Asp1063Tyr					RANBP6_uc011lmf.1_Missense_Mutation_p.D711Y|RANBP6_uc003zjs.2_Missense_Mutation_p.D651Y	p.D1063Y	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	3198	-		Acute lymphoblastic leukemia(23;0.158)	1063					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.3187G>T	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800227	0.50208	.	.	ENSG00000137040	ENST00000259569	T	0.10763	2.84	4.67	3.76	0.43208	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.16981	0.0408	M	0.65975	2.015	0.80722	D	1	P;P;P	0.43973	0.732;0.823;0.823	B;B;B	0.43867	0.321;0.434;0.434	T	0.02781	-1.1111	10	0.72032	D	0.01	-2.8633	13.1807	0.59653	0.0:0.8383:0.1617:0.0	.	230;651;1063	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	Y	1063	ENSP00000259569:D1063Y	ENSP00000259569:D1063Y	D	-	1	0	RANBP6	6002421	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.520000	0.67080	1.553000	0.49476	0.655000	0.94253	GAT		0.378	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		13	54	1	0	7.03913e-09	0.001368	1.01055e-08	13	54				
PTPRD	5789	broad.mit.edu	37	9	8507349	8507349	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:8507349G>A	ENST00000381196.4	-	19	2172	c.1629C>T	c.(1627-1629)acC>acT	p.T543T	PTPRD_ENST00000537002.1_Silent_p.T540T|PTPRD_ENST00000358503.5_Silent_p.T530T|PTPRD_ENST00000356435.5_Silent_p.T543T|PTPRD_ENST00000355233.5_Silent_p.T543T|PTPRD_ENST00000540109.1_Silent_p.T543T|PTPRD_ENST00000397606.3_Silent_p.T533T|PTPRD_ENST00000397611.3_Silent_p.T540T|PTPRD_ENST00000397617.3_Silent_p.T533T|PTPRD_ENST00000486161.1_Silent_p.T543T|PTPRD_ENST00000360074.4_Silent_p.T530T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	543	Fibronectin type-III 3. {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)	p.T543T(4)		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)		AGTTGGCAATGGTATCTGAAC	0.463										TSP Lung(15;0.13)																													uc003zkk.2		NA																	4	Substitution - coding silent(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(1627-1629)ACC>ACT		protein tyrosine phosphatase, receptor type, D							221.0	195.0	204.0					9																	8507349		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.chr9:8507349G>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.1629C>T	9.37:g.8507349G>A		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Silent_p.T543T|PTPRD_uc003zkq.2_Silent_p.T543T|PTPRD_uc003zkr.2_Silent_p.T537T|PTPRD_uc003zks.2_Silent_p.T533T|PTPRD_uc003zkl.2_Silent_p.T543T|PTPRD_uc003zkm.2_Silent_p.T530T|PTPRD_uc003zkn.2_Silent_p.T543T|PTPRD_uc003zko.2_Silent_p.T540T	p.T543T	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)	21	2340	-		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)	543			Fibronectin type-III 3.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.1629C>T	CCDS43786.1																																																																																				0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			21	132	0	0	0	0.001882	0	21	132				
MPDZ	8777	broad.mit.edu	37	9	13137969	13137969	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:13137969T>A	ENST00000319217.7	-	29	4434	c.4187A>T	c.(4186-4188)gAt>gTt	p.D1396V	MPDZ_ENST00000541093.1_5'Flank|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1396V|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000538841.1_Missense_Mutation_p.D255V|MPDZ_ENST00000541718.1_Missense_Mutation_p.D1396V|MPDZ_ENST00000546205.1_Missense_Mutation_p.D1410V|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1396V|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1363V|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1363V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1396	PDZ 8. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.D1396V(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TAGAAGCTCATCTGCAATTTG	0.393																																							uc010mia.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(1)	6						c.(4186-4188)GAT>GTT		multiple PDZ domain protein							91.0	83.0	85.0					9																	13137969		1848	4092	5940	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13137969T>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4187A>T	9.37:g.13137969T>A	ENSP00000320006:p.Asp1396Val					MPDZ_uc003zky.3_5'Flank|MPDZ_uc010mib.2_Missense_Mutation_p.D101V|MPDZ_uc010mhx.2_Missense_Mutation_p.D218V|MPDZ_uc011lmm.1_Missense_Mutation_p.D255V|MPDZ_uc003zkz.3_Missense_Mutation_p.D89V|MPDZ_uc010mhy.2_Missense_Mutation_p.D1396V|MPDZ_uc010mhz.2_Missense_Mutation_p.D1363V|MPDZ_uc011lmn.1_Missense_Mutation_p.D1363V|MPDZ_uc003zlb.3_Missense_Mutation_p.D1396V	p.D1396V	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	28	4244	-			1396			PDZ 8.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.4187A>T		.	.	.	.	.	.	.	.	.	.	T	24.1	4.489914	0.84962	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	5.72	5.72	0.89469	.	0.000000	0.48286	D	0.000184	D	0.92074	0.7488	H	0.98786	4.33	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95197	0.8313	10	0.87932	D	0	.	15.999	0.80275	0.0:0.0:0.0:1.0	.	1363;255;101;1363;1276;1396	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.;.	V	1396;1396;1396;332;255;1363;1363;1396;1276;1410	ENSP00000320006:D1396V;ENSP00000439807:D1396V;ENSP00000370410:D1396V;ENSP00000444230:D332V;ENSP00000444717:D255V;ENSP00000444151:D1363V;ENSP00000415208:D1363V;ENSP00000370403:D1396V;ENSP00000446358:D1410V	ENSP00000320006:D1396V	D	-	2	0	MPDZ	13127969	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.008000	0.88588	2.176000	0.68965	0.528000	0.53228	GAT		0.393	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		4	45	0	0	0	0.000602	0	4	45				
PLIN2	123	broad.mit.edu	37	9	19116449	19116449	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:19116449G>A	ENST00000276914.2	-	8	1290	c.1111C>T	c.(1111-1113)Ctc>Ttc	p.L371F	PLIN2_ENST00000411567.1_Missense_Mutation_p.L290F	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	371					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L371F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CTAGAAGTGAGGAGGCTGTCA	0.498																																							uc003zno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1111-1113)CTC>TTC		adipose differentiation-related protein							86.0	75.0	79.0					9																	19116449		2203	4300	6503	SO:0001583	missense	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19116449G>A	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.1111C>T	9.37:g.19116449G>A	ENSP00000276914:p.Leu371Phe					PLIN2_uc011lna.1_Missense_Mutation_p.L343F	p.L371F	NM_001122	NP_001113	Q99541	PLIN2_HUMAN			8	1290	-			371					Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	c.1111C>T	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612907	0.66672	.	.	ENSG00000147872	ENST00000411567;ENST00000276914	T;T	0.41065	1.01;1.01	5.34	5.34	0.76211	.	0.941127	0.08965	N	0.868141	T	0.67961	0.2949	M	0.89287	3.02	0.44175	D	0.99698	D	0.67145	0.996	D	0.68943	0.961	T	0.65894	-0.6057	10	0.62326	D	0.03	.	8.2121	0.31490	0.0767:0.0:0.6893:0.234	.	371	Q99541	PLIN2_HUMAN	F	290;371	ENSP00000415270:L290F;ENSP00000276914:L371F	ENSP00000276914:L371F	L	-	1	0	PLIN2	19106449	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.348000	0.44045	2.488000	0.83962	0.650000	0.86243	CTC		0.498	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		13	56	0	0	0	0.001368	0	13	56				
KLHL9	55958	broad.mit.edu	37	9	21334826	21334826	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:21334826G>A	ENST00000359039.4	-	1	553	c.33C>T	c.(31-33)ggC>ggT	p.G11G	KLHL9_ENST00000537938.1_Intron			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	11					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.G11G(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GGGCAGAGACGCCCATTTCGC	0.463																																							uc003zoy.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(31-33)GGC>GGT		kelch-like 9							64.0	65.0	65.0					9																	21334826		2203	4300	6503	SO:0001819	synonymous_variant	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21334826G>A	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.33C>T	9.37:g.21334826G>A						KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	p.G11G	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	604	-			11					Q8TCQ2	Silent	SNP	ENST00000359039.4	37	c.33C>T	CCDS6503.1																																																																																				0.463	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		13	52	0	0	0	0.001855	0	13	52				
TEK	7010	broad.mit.edu	37	9	27183579	27183579	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:27183579C>A	ENST00000380036.4	+	8	1595	c.1153C>A	c.(1153-1155)Ctg>Atg	p.L385M	TEK_ENST00000406359.4_Missense_Mutation_p.L342M|TEK_ENST00000519097.1_Missense_Mutation_p.L238M	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	385	Ig-like C2-type 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L385M(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AGAAATGACCCTGGTGAAGCC	0.428																																							uc003zqi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12						c.(1153-1155)CTG>ATG		TEK tyrosine kinase, endothelial precursor							143.0	158.0	153.0					9																	27183579		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27183579C>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1153C>A	9.37:g.27183579C>A	ENSP00000369375:p.Leu385Met					TEK_uc011lnn.1_3'UTR|TEK_uc011lno.1_Missense_Mutation_p.L342M|TEK_uc011lnp.1_Missense_Mutation_p.L238M|TEK_uc003zqj.1_Missense_Mutation_p.L319M	p.L385M	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	8	1595	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	385			Extracellular (Potential).|Ig-like C2-type 2.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.1153C>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184092	0.57800	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359;ENST00000519080	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.32	2.48	0.30137	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39210	N	0.001431	T	0.47728	0.1461	L	0.61218	1.895	0.38521	D	0.948725	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	P;D;D;D	0.91635	0.782;0.998;0.998;0.999	T	0.47471	-0.9115	10	0.87932	D	0	.	8.2659	0.31813	0.0:0.749:0.0:0.251	.	238;418;342;385	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	M	238;385;342;342;195	ENSP00000430686:L238M;ENSP00000369375:L385M;ENSP00000383977:L342M;ENSP00000428337:L195M	ENSP00000343716:L342M	L	+	1	2	TEK	27173579	0.994000	0.37717	0.870000	0.34147	0.993000	0.82548	3.383000	0.52471	0.328000	0.23435	0.655000	0.94253	CTG		0.428	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			35	174	1	0	8.73648e-17	0.004289	1.42401e-16	35	174				
DDX58	23586	broad.mit.edu	37	9	32492480	32492480	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:32492480G>A	ENST00000379883.2	-	4	637	c.480C>T	c.(478-480)ctC>ctT	p.L160L	DDX58_ENST00000379868.1_Intron|DDX58_ENST00000379882.1_Silent_p.L115L|DDX58_ENST00000545044.1_Intron|DDX58_ENST00000542096.1_Silent_p.L89L	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	160	CARD 2.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.L160L(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGTCTGATCTGAGAAGGCATT	0.398																																							uc003zra.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|liver(1)|pancreas(1)	4						c.(478-480)CTC>CTT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							150.0	138.0	142.0					9																	32492480		2203	4300	6503	SO:0001819	synonymous_variant	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32492480G>A	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.480C>T	9.37:g.32492480G>A						DDX58_uc010mjj.2_Intron|DDX58_uc010mjk.1_Silent_p.L115L|DDX58_uc011lnr.1_Intron|DDX58_uc010mji.2_Silent_p.L89L	p.L160L	NM_014314	NP_055129	O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	4	638	-			160			CARD 2.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Silent	SNP	ENST00000379883.2	37	c.480C>T	CCDS6526.1																																																																																				0.398	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		23	94	0	0	0	0.002299	0	23	94				
TAF1L	138474	broad.mit.edu	37	9	32632339	32632339	+	Missense_Mutation	SNP	C	C	T	rs201241616		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:32632339C>T	ENST00000242310.4	-	1	3328	c.3239G>A	c.(3238-3240)cGt>cAt	p.R1080H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1080					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1080H(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCTTTGTAACGCTCTTGATG	0.473													c|||	1	0.000199681	0.0	0.0	5008	,	,		23067	0.001		0.0	False		,,,				2504	0.0						uc003zrg.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(3238-3240)CGT>CAT		TBP-associated factor RNA polymerase 1-like		T	HIS/ARG	0,4406		0,0,2203	178.0	167.0	171.0		3239	-0.9	1.0	9	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TAF1L	NM_153809.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1080/1827	32632339	1,13005	2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632339C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3239G>A	9.37:g.32632339C>T	ENSP00000418379:p.Arg1080His					uc003zrh.1_5'Flank	p.R1080H	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3329	-			1080					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3239G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	c	13.21	2.167696	0.38315	0.0	1.16E-4	ENSG00000122728	ENST00000242310	T	0.18174	2.23	0.479	-0.924	0.10462	.	0.047970	0.85682	D	0.000000	T	0.13286	0.0322	L	0.55481	1.735	0.51767	D	0.999931	B	0.18741	0.03	B	0.14578	0.011	T	0.05920	-1.0856	10	0.66056	D	0.02	.	4.8372	0.13471	0.0:0.7251:0.0:0.2749	.	1080	Q8IZX4	TAF1L_HUMAN	H	1080	ENSP00000418379:R1080H	ENSP00000418379:R1080H	R	-	2	0	TAF1L	32622339	0.998000	0.40836	0.981000	0.43875	0.686000	0.39977	2.492000	0.45311	-0.377000	0.07930	-1.051000	0.02340	CGT		0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			21	114	0	0	0	0.001882	0	21	114				
DCAF12	25853	broad.mit.edu	37	9	34126386	34126386	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:34126386G>A	ENST00000361264.4	-	1	385	c.44C>T	c.(43-45)tCg>tTg	p.S15L	DCAF12_ENST00000463286.1_5'Flank	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	15					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)		p.S15L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						AGCTCCCGGCGAGGCGGGCGC	0.692																																							uc003ztt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(43-45)TCG>TTG		DDB1 and CUL4 associated factor 12							15.0	18.0	17.0					9																	34126386		2197	4297	6494	SO:0001583	missense	25853					centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34126386G>A	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.44C>T	9.37:g.34126386G>A	ENSP00000355114:p.Ser15Leu						p.S15L	NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN			1	386	-			15					A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	c.44C>T	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584930	0.46110	.	.	ENSG00000198876	ENST00000361264	T	0.17528	2.27	4.74	3.85	0.44370	.	0.255073	0.27275	N	0.020118	T	0.07324	0.0185	N	0.08118	0	0.27854	N	0.940658	B	0.02656	0.0	B	0.01281	0.0	T	0.21518	-1.0243	10	0.27082	T	0.32	.	5.2142	0.15334	0.1818:0.1708:0.6474:0.0	.	15	Q5T6F0	DCA12_HUMAN	L	15	ENSP00000355114:S15L	ENSP00000355114:S15L	S	-	2	0	DCAF12	34116386	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.080000	0.41586	1.348000	0.45733	0.563000	0.77884	TCG		0.692	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397		4	29	0	0	0	0.000602	0	4	29				
TLN1	7094	broad.mit.edu	37	9	35704723	35704723	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:35704723G>A	ENST00000314888.9	-	44	6176	c.5823C>T	c.(5821-5823)ccC>ccT	p.P1941P	TLN1_ENST00000464379.1_5'UTR|TLN1_ENST00000540444.1_Silent_p.P1835P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1941	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.P1941P(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGCATCACTGGGGCTGCACT	0.592																																							uc003zxt.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(5821-5823)CCC>CCT		talin 1							109.0	90.0	96.0					9																	35704723		2203	4300	6503	SO:0001819	synonymous_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35704723G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5823C>T	9.37:g.35704723G>A							p.P1941P	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		44	6177	-	all_epithelial(49;0.167)		1941			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.5823C>T	CCDS35009.1																																																																																				0.592	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		10	64	0	0	0	0.006214	0	10	64				
ALDH1A1	216	broad.mit.edu	37	9	75526984	75526984	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:75526984C>G	ENST00000297785.3	-	10	1144	c.1090G>C	c.(1090-1092)Gaa>Caa	p.E364Q		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	364					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)	p.E364Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TTGGCCCCTTCTTTCTTCCCA	0.408																																							uc004ajd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1090-1092)GAA>CAA		aldehyde dehydrogenase 1A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						136.0	126.0	130.0					9																	75526984		2203	4300	6503	SO:0001583	missense	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75526984C>G	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1090G>C	9.37:g.75526984C>G	ENSP00000297785:p.Glu364Gln					ALDH1A1_uc011lsh.1_Missense_Mutation_p.E285Q|ALDH1A1_uc011lsg.1_Missense_Mutation_p.E190Q	p.E364Q	NM_000689	NP_000680	P00352	AL1A1_HUMAN			10	1143	-			364					O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	c.1090G>C	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660947	0.47572	.	.	ENSG00000165092	ENST00000297785	T	0.78924	-1.22	5.91	2.8	0.32819	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.294110	0.33144	N	0.005230	T	0.69305	0.3096	L	0.48935	1.535	0.80722	D	1	B;B	0.14012	0.006;0.009	B;B	0.18871	0.023;0.015	T	0.66866	-0.5815	10	0.38643	T	0.18	.	11.1767	0.48603	0.0:0.6964:0.2378:0.0658	.	285;364	B4DDF8;P00352	.;AL1A1_HUMAN	Q	364	ENSP00000297785:E364Q	ENSP00000297785:E364Q	E	-	1	0	ALDH1A1	74716804	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.624000	0.61254	1.476000	0.48215	0.655000	0.94253	GAA		0.408	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			28	76	0	0	0	0.00632	0	28	76				
FRMD3	257019	broad.mit.edu	37	9	85950546	85950546	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:85950546C>A	ENST00000304195.3	-	6	687	c.481G>T	c.(481-483)Ggt>Tgt	p.G161C	FRMD3_ENST00000376438.1_Missense_Mutation_p.G161C	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	161	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.G161C(1)|p.G57C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCGTAATCACCAAGCTCAGCT	0.398																																							uc004ams.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(481-483)GGT>TGT		FERM domain containing 3							85.0	73.0	77.0					9																	85950546		1855	4097	5952	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85950546C>A	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.481G>T	9.37:g.85950546C>A	ENSP00000303508:p.Gly161Cys					FRMD3_uc004amr.1_Missense_Mutation_p.G147C	p.G161C	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			6	683	-			161			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.481G>T	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544896	0.86022	.	.	ENSG00000172159	ENST00000376438;ENST00000304195;ENST00000376422	D;D	0.93953	-3.32;-3.32	5.16	5.16	0.70880	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98604	1.0660	10	0.87932	D	0	.	18.9978	0.92819	0.0:1.0:0.0:0.0	.	161;161	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	C	161;161;57	ENSP00000365621:G161C;ENSP00000303508:G161C	ENSP00000303508:G161C	G	-	1	0	FRMD3	85140366	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.573000	0.82421	2.568000	0.86640	0.591000	0.81541	GGT		0.398	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		8	26	1	0	1.06961e-07	0.00308	1.48823e-07	8	26				
SPATA31C1	441452	broad.mit.edu	37	9	90538003	90538003	+	RNA	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:90538003C>A	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGCTGAGAGGCTCATGACAGC	0.498																																							uc010mqi.2		NA																	0					0						c.(3181-3183)CTC>ATC		family with sequence similarity 75, member C1							59.0	54.0	56.0					9																	90538003		692	1591	2283			441452							g.chr9:90538003C>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90538003C>A						FAM75C1_uc004apq.3_Missense_Mutation_p.L1044I	p.L1061I	NM_001145124	NP_001138596					4	3210	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.3181C>A																																																																																					0.498	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		5	55	1	0	0.00116845	0.001168	0.00131559	5	55				
PALM2	114299	broad.mit.edu	37	9	112705113	112705113	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:112705113G>T	ENST00000374531.2	+	7	622	c.548G>T	c.(547-549)cGc>cTc	p.R183L	PALM2_ENST00000314527.4_Missense_Mutation_p.R215L|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000448454.2_Missense_Mutation_p.R217L|PALM2_ENST00000483909.1_Missense_Mutation_p.R181L|AKAP2_ENST00000510514.5_Intron	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	183					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)		p.R183L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						TATGAGGTGCGCTCAGGAGGC	0.468																																							uc004bei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(643-645)CGC>CTC		A kinase (PRKA) anchor protein 2 isoform 2							93.0	80.0	84.0					9																	112705113		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112705113G>T	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.548G>T	9.37:g.112705113G>T	ENSP00000363656:p.Arg183Leu					PALM2_uc004bef.2_Missense_Mutation_p.R217L|PALM2_uc004beg.2_Missense_Mutation_p.R183L|PALM2_uc004beh.3_Missense_Mutation_p.R215L|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	p.R215L	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			7	836	+			481					A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	c.644G>T	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768032	0.31320	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000413420	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	6.17	2.59	0.31030	.	.	.	.	.	T	0.15609	0.0376	L	0.34521	1.04	0.80722	D	1	B;B	0.21606	0.058;0.058	B;B	0.25291	0.059;0.031	T	0.07102	-1.0790	9	0.30078	T	0.28	.	9.4549	0.38750	0.8002:0.0:0.1998:0.0	.	183;217	Q8IXS6;D3YTA4	PALM2_HUMAN;.	L	183;217;181;215;215	ENSP00000363656:R183L;ENSP00000400206:R217L;ENSP00000417525:R181L;ENSP00000323805:R215L;ENSP00000397839:R215L	ENSP00000397839:R215L	R	+	2	0	PALM2-AKAP2;PALM2	111744934	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.181000	0.42547	0.203000	0.20529	-0.294000	0.09567	CGC		0.468	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		6	24	1	0	8.12818e-05	0.001984	9.7994e-05	6	24				
SVEP1	79987	broad.mit.edu	37	9	113173599	113173599	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:113173599T>A	ENST00000401783.2	-	37	6728	c.6392A>T	c.(6391-6393)cAg>cTg	p.Q2131L	SVEP1_ENST00000374469.1_Missense_Mutation_p.Q2108L|SVEP1_ENST00000297826.5_Missense_Mutation_p.Q57L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2131	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.Q2134L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGGGTTCCACTGCCCACCTCT	0.478																																							uc010mtz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(6391-6393)CAG>CTG		polydom							73.0	78.0	77.0					9																	113173599		1981	4162	6143	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113173599T>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6392A>T	9.37:g.113173599T>A	ENSP00000384917:p.Gln2131Leu					SVEP1_uc010mty.2_Missense_Mutation_p.Q57L	p.Q2131L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			37	6729	-			2131			Sushi 12.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.6392A>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586131	0.28268	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.66815	-0.23;-0.23;-0.23	5.98	4.85	0.62838	Complement control module (2);Sushi/SCR/CCP (3);	0.780519	0.12551	N	0.459083	T	0.54581	0.1867	L	0.39898	1.24	0.23677	N	0.997138	B	0.32010	0.351	B	0.34536	0.185	T	0.42344	-0.9457	10	0.10636	T	0.68	.	8.2059	0.31454	0.1199:0.0657:0.0:0.8144	.	2131	Q4LDE5	SVEP1_HUMAN	L	2131;2108;57	ENSP00000384917:Q2131L;ENSP00000363593:Q2108L;ENSP00000297826:Q57L	ENSP00000297826:Q57L	Q	-	2	0	SVEP1	112213420	0.982000	0.34865	0.989000	0.46669	0.963000	0.63663	2.133000	0.42093	1.099000	0.41499	-0.353000	0.07706	CAG		0.478	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	33	0	0	0	0.001368	0	11	33				
COL27A1	85301	broad.mit.edu	37	9	117033025	117033025	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:117033025G>T	ENST00000356083.3	+	36	3964	c.3573G>T	c.(3571-3573)gaG>gaT	p.E1191D	COL27A1_ENST00000477421.2_3'UTR	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1191	Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.E1191D(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGGCCTTGAGGGTGACAGTG	0.612																																							uc011lxl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3571-3573)GAG>GAT		collagen, type XXVII, alpha 1 precursor							99.0	91.0	93.0					9																	117033025		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117033025G>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3573G>T	9.37:g.117033025G>T	ENSP00000348385:p.Glu1191Asp					COL27A1_uc004bii.2_RNA	p.E1191D	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			36	3573	+			1191			Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.3573G>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	7.933	0.741022	0.15642	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93547	-3.24	4.87	1.93	0.25924	.	.	.	.	.	D	0.87924	0.6300	N	0.02213	-0.635	0.38532	D	0.948995	D	0.69078	0.997	D	0.79108	0.992	T	0.82200	-0.0575	9	0.22109	T	0.4	.	6.1891	0.20513	0.3326:0.0:0.6674:0.0	.	1191	Q8IZC6	CORA1_HUMAN	D	1191	ENSP00000348385:E1191D	ENSP00000348385:E1191D	E	+	3	2	COL27A1	116072846	1.000000	0.71417	0.989000	0.46669	0.373000	0.29922	0.649000	0.24843	0.218000	0.20820	0.462000	0.41574	GAG		0.612	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		8	47	1	0	0.000442599	0.006214	0.00050913	8	47				
TRAF1	7185	broad.mit.edu	37	9	123675735	123675735	+	Silent	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:123675735C>G	ENST00000373887.3	-	5	3021	c.576G>C	c.(574-576)ggG>ggC	p.G192G	TRAF1_ENST00000540010.1_Silent_p.G192G|TRAF1_ENST00000546084.1_Silent_p.G70G	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	192					apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G192G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CACGCAGCTTCCCCTCCAGCT	0.612																																							uc004bku.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(574-576)GGG>GGC		TNF receptor-associated factor 1							53.0	45.0	48.0					9																	123675735		2203	4300	6503	SO:0001819	synonymous_variant	7185				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	g.chr9:123675735C>G	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.576G>C	9.37:g.123675735C>G						TRAF1_uc011lyg.1_Silent_p.G70G|TRAF1_uc010mvl.1_Silent_p.G192G	p.G192G	NM_005658	NP_005649	Q13077	TRAF1_HUMAN			5	1148	-			192					B4DJ77|Q658U1|Q8NF13	Silent	SNP	ENST00000373887.3	37	c.576G>C	CCDS6825.1																																																																																				0.612	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658		7	42	0	0	0	0.001984	0	7	42				
OR1J2	26740	broad.mit.edu	37	9	125273228	125273228	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:125273228C>A	ENST00000335302.5	+	1	148	c.148C>A	c.(148-150)Cag>Aag	p.Q50K		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q50K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GCTGCTCATCCAGCTGGACTC	0.557																																							uc004bmj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|pancreas(1)|breast(1)	5						c.(148-150)CAG>AAG		olfactory receptor, family 1, subfamily J,							274.0	213.0	233.0					9																	125273228		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273228C>A		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.148C>A	9.37:g.125273228C>A	ENSP00000335575:p.Gln50Lys					OR1J2_uc011lyv.1_Missense_Mutation_p.Q50K	p.Q50K	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN			4	1003	+			50			Cytoplasmic (Potential).		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.148C>A	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433039	0.25813	.	.	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.01068	5.38	4.93	-2.74	0.05932	GPCR, rhodopsin-like superfamily (1);	0.546775	0.13663	U	0.371457	T	0.00608	0.0020	N	0.11364	0.135	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45512	-0.9256	10	0.28530	T	0.3	.	2.5595	0.04768	0.3883:0.3367:0.0741:0.2009	.	50	Q8NGS2	OR1J2_HUMAN	K	50	ENSP00000335575:Q50K	ENSP00000335575:Q50K	Q	+	1	0	OR1J2	124313049	0.000000	0.05858	0.939000	0.37840	0.704000	0.40688	-0.352000	0.07701	-0.218000	0.10018	-0.187000	0.12897	CAG		0.557	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			40	123	1	0	1.48646e-12	0.002522	2.32228e-12	40	123				
TTF1	7270	broad.mit.edu	37	9	135266129	135266129	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:135266129C>G	ENST00000334270.2	-	7	2116	c.2077G>C	c.(2077-2079)Gag>Cag	p.E693Q		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	693	Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E693Q(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCTTTTAACTCCTGGGGAGAC	0.413																																							uc004cbl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2077-2079)GAG>CAG		transcription termination factor, RNA polymerase							153.0	160.0	158.0					9																	135266129		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135266129C>G	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2077G>C	9.37:g.135266129C>G	ENSP00000333920:p.Glu693Gln					TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.E178Q	p.E693Q	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	7	2129	-		Myeloproliferative disorder(178;0.204)	693			Myb-like 2.		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.2077G>C	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514356	0.44763	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.11495	2.77	5.76	5.76	0.90799	SANT domain, DNA binding (1);MYB-like (1);	0.516289	0.19189	N	0.120476	T	0.12475	0.0303	L	0.27053	0.805	0.21020	N	0.999802	P	0.52842	0.956	P	0.47528	0.549	T	0.16988	-1.0384	10	0.34782	T	0.22	.	15.4761	0.75481	0.0:1.0:0.0:0.0	.	693	Q15361	TTF1_HUMAN	Q	693	ENSP00000333920:E693Q	ENSP00000245588:E693Q	E	-	1	0	TTF1	134255950	0.171000	0.23029	0.088000	0.20740	0.347000	0.29111	1.830000	0.39131	2.713000	0.92767	0.655000	0.94253	GAG		0.413	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		33	141	0	0	0	0.003271	0	33	141				
COL5A1	1289	broad.mit.edu	37	9	137688239	137688239	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:137688239G>T	ENST00000371817.3	+	35	3233	c.2819G>T	c.(2818-2820)gGc>gTc	p.G940V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	940	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.G940V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGAGGTGACGGCCCAGCTGGC	0.572																																							uc004cfe.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(2818-2820)GGC>GTC		alpha 1 type V collagen preproprotein							82.0	86.0	85.0					9																	137688239		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137688239G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2819G>T	9.37:g.137688239G>T	ENSP00000360882:p.Gly940Val						p.G940V	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	35	3201	+		Myeloproliferative disorder(178;0.0341)	940			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2819G>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209644	0.58343	.	.	ENSG00000130635	ENST00000371817	T	0.59502	0.26	4.51	4.51	0.55191	.	0.000000	0.85682	U	0.000000	D	0.82706	0.5095	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88637	0.3173	10	0.87932	D	0	.	17.1987	0.86900	0.0:0.0:1.0:0.0	.	940	P20908	CO5A1_HUMAN	V	940	ENSP00000360882:G940V	ENSP00000360882:G940V	G	+	2	0	COL5A1	136828060	1.000000	0.71417	0.998000	0.56505	0.338000	0.28826	8.503000	0.90509	2.048000	0.60808	0.297000	0.19635	GGC		0.572	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		13	68	1	0	4.7546e-09	0.004007	6.8915e-09	13	68				
OLFM1	10439	broad.mit.edu	37	9	137998651	137998651	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr9:137998651A>T	ENST00000371793.3	+	5	984	c.733A>T	c.(733-735)Agg>Tgg	p.R245W	OLFM1_ENST00000371796.3_Missense_Mutation_p.R218W|OLFM1_ENST00000252854.4_Missense_Mutation_p.R227W	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	245	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)	p.R227W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CTCCGGCTCGAGGTTCGGATC	0.627																																							uc010nar.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(733-735)AGG>TGG		olfactomedin related ER localized protein							73.0	61.0	65.0					9																	137998651		2203	4300	6503	SO:0001583	missense	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:137998651A>T	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.733A>T	9.37:g.137998651A>T	ENSP00000360858:p.Arg245Trp					OLFM1_uc004cfl.3_Missense_Mutation_p.R227W|OLFM1_uc004cfn.3_5'UTR	p.R245W	NM_014279	NP_055094	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	5	1049	+		Myeloproliferative disorder(178;0.0333)	245			Olfactomedin-like.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37	c.733A>T		.	.	.	.	.	.	.	.	.	.	A	18.94	3.729703	0.69074	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793;ENST00000539877	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	4.75	2.25	0.28309	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.93996	0.8077	M	0.82630	2.6	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93420	0.6776	10	0.87932	D	0	.	13.1925	0.59719	0.4394:0.5606:0.0:0.0	.	245;227	Q99784;Q6IMJ8	NOE1_HUMAN;.	W	227;218;245;142	ENSP00000252854:R227W;ENSP00000360861:R218W;ENSP00000360858:R245W;ENSP00000443806:R142W	ENSP00000252854:R227W	R	+	1	2	OLFM1	137138472	0.380000	0.25131	0.807000	0.32361	0.972000	0.66771	1.161000	0.31773	0.142000	0.18901	0.459000	0.35465	AGG		0.627	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		5	16	0	0	0	0.000602	0	5	16				
MXRA5	25878	broad.mit.edu	37	X	3235848	3235848	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:3235848C>A	ENST00000217939.6	-	6	6028	c.5874G>T	c.(5872-5874)caG>caT	p.Q1958H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1958	Ig-like C2-type 4.					extracellular vesicular exosome (GO:0070062)		p.Q1958H(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGTGACGTCCTGGTAGTGGG	0.572																																							uc004crg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(5872-5874)CAG>CAT		adlican precursor							118.0	90.0	100.0					X																	3235848		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3235848C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5874G>T	X.37:g.3235848C>A	ENSP00000217939:p.Gln1958His						p.Q1958H	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	6031	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1958			Ig-like C2-type 4.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5874G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	10.79	1.449747	0.26074	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68181	-0.31	3.64	2.75	0.32379	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.749556	0.10896	U	0.622113	T	0.70378	0.3217	L	0.46947	1.48	0.26841	N	0.968368	P	0.48834	0.916	P	0.60682	0.878	T	0.57341	-0.7828	10	0.52906	T	0.07	.	4.3782	0.11281	0.2094:0.6162:0.0:0.1744	.	1958	Q9NR99	MXRA5_HUMAN	H	1958	ENSP00000217939:Q1958H	ENSP00000217939:Q1958H	Q	-	3	2	MXRA5	3245848	1.000000	0.71417	0.980000	0.43619	0.057000	0.15508	0.970000	0.29383	0.402000	0.25451	-0.224000	0.12420	CAG		0.572	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		9	37	1	0	0.00448238	0.004482	0.00490617	9	37				
WWC3	55841	broad.mit.edu	37	X	10109514	10109514	+	Silent	SNP	A	A	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:10109514A>C	ENST00000380861.4	+	23	3643	c.3252A>C	c.(3250-3252)atA>atC	p.I1084I	WWC3_ENST00000454666.1_Silent_p.I1084I	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1084					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GGATCAACATACCTCCTCTCC	0.458																																							uc004csx.3		NA																	0				ovary(4)	4						c.(3250-3252)ATA>ATC		WWC family member 3							142.0	104.0	117.0					X																	10109514		2203	4300	6503	SO:0001819	synonymous_variant	55841							g.chrX:10109514A>C	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.3252A>C	X.37:g.10109514A>C						WWC3_uc010nds.2_Silent_p.I748I|WWC3_uc010ndt.2_RNA	p.I1084I	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			23	3450	+			1084					A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	c.3252A>C	CCDS14136.1																																																																																				0.458	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		4	56	0	0	0	0.001168	0	4	56				
MBTPS2	51360	broad.mit.edu	37	X	21863482	21863482	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:21863482G>C	ENST00000379484.5	+	3	517	c.418G>C	c.(418-420)Gaa>Caa	p.E140Q	MBTPS2_ENST00000365779.2_Missense_Mutation_p.E140Q|MBTPS2_ENST00000465888.1_3'UTR	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	140					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E140Q(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GCTTCACAATGAACAGGTGTT	0.413																																							uc010nfq.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(418-420)GAA>CAA		YY2 transcription factor							64.0	52.0	56.0					X																	21863482		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21863482G>C	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.418G>C	X.37:g.21863482G>C	ENSP00000368798:p.Glu140Gln					MBTPS2_uc004dae.2_Missense_Mutation_p.E140Q|MBTPS2_uc004dab.2_Missense_Mutation_p.E140Q	p.E140Q	NM_206923	NP_996806	O15391	TYY2_HUMAN			3	615	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	37	c.418G>C	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393901	0.42410	.	.	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.93953	-3.32;-2.16	4.8	4.8	0.61643	.	1.031550	0.07634	N	0.929184	D	0.88912	0.6566	L	0.33485	1.01	0.48632	D	0.999683	B;B;B	0.27229	0.031;0.031;0.172	B;B;B	0.15870	0.009;0.009;0.014	T	0.76318	-0.3003	10	0.15499	T	0.54	-6.0376	13.7367	0.62821	0.0:0.0:1.0:0.0	.	140;140;140	A8KA68;O43462;B9ZVQ3	.;MBTP2_HUMAN;.	Q	140	ENSP00000368798:E140Q;ENSP00000368796:E140Q	ENSP00000368796:E140Q	E	+	1	0	MBTPS2	21773403	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	6.569000	0.73992	2.342000	0.79632	0.544000	0.68410	GAA		0.413	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			3	23	0	0	0	0.009096	0	3	23				
PHEX	5251	broad.mit.edu	37	X	22112124	22112124	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:22112124C>A	ENST00000379374.4	+	7	1321	c.756C>A	c.(754-756)ttC>ttA	p.F252L	PHEX_ENST00000535894.1_Missense_Mutation_p.F155L|PHEX_ENST00000537599.1_Missense_Mutation_p.F252L|PHEX_ENST00000475778.1_3'UTR	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	252			F -> S (in XLHR). {ECO:0000269|PubMed:9106524}.		bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F252L(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTTACAAGTTCATGGTGGATA	0.413																																							uc004dah.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(754-756)TTC>TTA		phosphate-regulating neutral endopeptidase							166.0	153.0	157.0					X																	22112124		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22112124C>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.756C>A	X.37:g.22112124C>A	ENSP00000368682:p.Phe252Leu					PHEX_uc011mjr.1_Missense_Mutation_p.F252L|PHEX_uc011mjs.1_Missense_Mutation_p.F155L	p.F252L	NM_000444	NP_000435	P78562	PHEX_HUMAN			7	959	+			252		F -> S (in HYP).	Extracellular (Potential).		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.756C>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688399	0.48097	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	T;T;T	0.73789	-0.78;-0.78;-0.78	5.47	4.61	0.57282	Peptidase M13 (1);	0.048438	0.85682	D	0.000000	T	0.50120	0.1597	N	0.03050	-0.425	0.80722	D	1	B;B	0.14805	0.004;0.011	B;B	0.17098	0.005;0.017	T	0.44832	-0.9302	10	0.45353	T	0.12	.	9.8666	0.41148	0.0:0.8397:0.0:0.1603	.	252;252	F5GXU4;P78562	.;PHEX_HUMAN	L	252;252;155	ENSP00000368682:F252L;ENSP00000440362:F252L;ENSP00000439418:F155L	ENSP00000368682:F252L	F	+	3	2	PHEX	22022045	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.132000	0.42083	1.081000	0.41110	0.436000	0.28706	TTC		0.413	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		28	154	1	0	3.73988e-18	0.00632	6.17388e-18	28	154				
MAGEB6	158809	broad.mit.edu	37	X	26212996	26212996	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:26212996C>T	ENST00000379034.1	+	2	1182	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	345	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.R345W(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGTGGTTTACCGGCAGGTGTG	0.498																																							uc004dbr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1033-1035)CGG>TGG		melanoma antigen family B, 6							93.0	92.0	92.0					X																	26212996		2201	4281	6482	SO:0001583	missense	158809							g.chrX:26212996C>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1033C>T	X.37:g.26212996C>T	ENSP00000368320:p.Arg345Trp					MAGEB6_uc010ngc.1_Missense_Mutation_p.R125W	p.R345W	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	1182	+			345			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.1033C>T	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	9.347	1.064495	0.20067	.	.	ENSG00000176746	ENST00000379034	T	0.06449	3.3	3.29	1.5	0.22942	.	0.845487	0.09939	U	0.736191	T	0.09512	0.0234	M	0.75777	2.31	0.09310	N	1	B	0.20052	0.041	B	0.22601	0.04	T	0.32587	-0.9901	10	0.62326	D	0.03	.	4.8155	0.13365	0.0:0.6982:0.0:0.3018	.	345	Q8N7X4	MAGB6_HUMAN	W	345	ENSP00000368320:R345W	ENSP00000368320:R345W	R	+	1	2	MAGEB6	26122917	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.419000	0.21247	0.269000	0.21961	0.594000	0.82650	CGG		0.498	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		19	112	0	0	0	0.00278	0	19	112				
MAGEB3	4114	broad.mit.edu	37	X	30254210	30254210	+	Silent	SNP	A	A	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:30254210A>C	ENST00000361644.2	+	5	906	c.169A>C	c.(169-171)Agg>Cgg	p.R57R		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	57								p.R57R(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GTCTGCTGGTAGGTCACGTAG	0.438																																							uc004dca.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(169-171)AGG>CGG		melanoma antigen family B, 3							36.0	30.0	32.0					X																	30254210		2202	4300	6502	SO:0001819	synonymous_variant	4114							g.chrX:30254210A>C	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.169A>C	X.37:g.30254210A>C							p.R57R	NM_002365	NP_002356	O15480	MAGB3_HUMAN			5	906	+			57					A0AVE4|B3KQ52|O75861	Silent	SNP	ENST00000361644.2	37	c.169A>C	CCDS14220.1																																																																																				0.438	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		6	28	0	0	0	0.00308	0	6	28				
FAM47B	170062	broad.mit.edu	37	X	34962493	34962493	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:34962493C>A	ENST00000329357.5	+	1	1581	c.1545C>A	c.(1543-1545)gaC>gaA	p.D515E		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	515								p.D515E(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGGAGCTAGACGACATGGATG	0.493																																							uc004ddi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1543-1545)GAC>GAA		hypothetical protein LOC170062							108.0	97.0	100.0					X																	34962493		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962493C>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1545C>A	X.37:g.34962493C>A	ENSP00000328307:p.Asp515Glu						p.D515E	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	1563	+			515					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1545C>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	9.697	1.153491	0.21371	.	.	ENSG00000189132	ENST00000329357	T	0.64991	-0.13	0.235	-0.47	0.12131	.	.	.	.	.	T	0.66376	0.2783	M	0.65975	2.015	0.09310	N	1	D	0.61697	0.99	P	0.58454	0.839	T	0.55392	-0.8148	8	0.35671	T	0.21	.	.	.	.	.	515	Q8NA70	FA47B_HUMAN	E	515	ENSP00000328307:D515E	ENSP00000328307:D515E	D	+	3	2	FAM47B	34872414	0.007000	0.16637	0.014000	0.15608	0.015000	0.08874	-1.797000	0.01749	-0.805000	0.04404	-0.810000	0.03169	GAC		0.493	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		15	67	1	0	0.00400662	0.004007	0.00441217	15	67				
CHDC2	286464	broad.mit.edu	37	X	36091444	36091444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:36091444G>T	ENST00000313548.4	+	4	565	c.379G>T	c.(379-381)Gga>Tga	p.G127*		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	127						integral component of membrane (GO:0016021)		p.G127*(2)|p.G127>?(1)									CTGGCCTGAAGGACCCCATTC	0.388																																							uc004ddk.1		NA																	3	Substitution - Nonsense(2)|Complex(1)	p.G127*(1)	lung(1)|central_nervous_system(1)|skin(1)	central_nervous_system(1)	1						c.(379-381)GGA>TGA		hypothetical protein LOC286464							98.0	89.0	92.0					X																	36091444		2202	4300	6502	SO:0001587	stop_gained	286464					integral to membrane		g.chrX:36091444G>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.379G>T	X.37:g.36091444G>T	ENSP00000324767:p.Gly127*						p.G127*	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			4	565	+			127						Nonsense_Mutation	SNP	ENST00000313548.4	37	c.379G>T	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980371	0.92982	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.09	4.23	0.50019	.	0.105237	0.33364	N	0.004997	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.7758	8.9094	0.35543	0.1066:0.0:0.8934:0.0	.	.	.	.	X	127	.	ENSP00000324767:G127X	G	+	1	0	CXorf59	36001365	1.000000	0.71417	0.091000	0.20842	0.529000	0.34654	5.001000	0.63946	0.931000	0.37242	0.529000	0.55759	GGA		0.388	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		17	64	1	0	1.00905e-13	0.008871	1.607e-13	17	64				
FAM47C	442444	broad.mit.edu	37	X	37029546	37029546	+	Silent	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:37029546T>A	ENST00000358047.3	+	1	3115	c.3063T>A	c.(3061-3063)gtT>gtA	p.V1021V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	1021								p.V1021V(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAATGCAAGTTTACAAGTACA	0.398																																							uc004ddl.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(3061-3063)GTT>GTA		hypothetical protein LOC442444							127.0	108.0	115.0					X																	37029546		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37029546T>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.3063T>A	X.37:g.37029546T>A							p.V1021V	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	3077	+			1021					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.3063T>A	CCDS35227.1																																																																																				0.398	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		27	137	0	0	0	0.002836	0	27	137				
ZC3H12B	340554	broad.mit.edu	37	X	64709219	64709219	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:64709219C>A	ENST00000338957.4	+	1	605	c.538C>A	c.(538-540)Ctt>Att	p.L180I	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L169I	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	180							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.L116I(1)|p.L30I(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAATTGTCTCTTGAAGATGA	0.443																																							uc010nko.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|kidney(1)|pancreas(1)	3						c.(505-507)CTT>ATT		zinc finger CCCH-type containing 12B							68.0	66.0	66.0					X																	64709219		1910	4104	6014	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64709219C>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.538C>A	X.37:g.64709219C>A	ENSP00000340839:p.Leu180Ile						p.L169I	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			1	514	+			169					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.505C>A	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424735	0.43020	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.25749	1.78;1.78	5.05	5.05	0.67936	.	0.207964	0.41001	D	0.000968	T	0.27419	0.0673	M	0.79926	2.475	0.39551	D	0.968975	P	0.37441	0.595	B	0.31016	0.123	T	0.14531	-1.0469	10	0.37606	T	0.19	-11.4661	9.686	0.40098	0.0:0.9028:0.0:0.0972	.	169	Q5HYM0	ZC12B_HUMAN	I	180;169;116	ENSP00000340839:L180I;ENSP00000408077:L169I	ENSP00000218172:L116I	L	+	1	0	ZC3H12B	64625944	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.068000	0.41471	2.331000	0.79229	0.506000	0.49869	CTT		0.443	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		16	114	1	0	4.14922e-12	0.004007	6.41566e-12	16	114				
HEPH	9843	broad.mit.edu	37	X	65480010	65480010	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:65480010G>A	ENST00000343002.2	+	18	3769	c.3105G>A	c.(3103-3105)gtG>gtA	p.V1035V	HEPH_ENST00000419594.1_Silent_p.V846V|HEPH_ENST00000441993.2_Silent_p.V1038V|HEPH_ENST00000336279.5_Silent_p.V768V|HEPH_ENST00000519389.1_Silent_p.V1089V|HEPH_ENST00000374727.3_Silent_p.V1038V			Q9BQS7	HEPH_HUMAN	hephaestin	1035	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.V1035V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGGAGATGGTGGCCAGCAACC	0.527																																							uc011moz.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(4)	9						c.(3112-3114)GTG>GTA		hephaestin isoform a							115.0	93.0	100.0					X																	65480010		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65480010G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3105G>A	X.37:g.65480010G>A						HEPH_uc004dwn.2_Silent_p.V1038V|HEPH_uc004dwo.2_Silent_p.V768V|HEPH_uc010nkr.2_Silent_p.V846V|HEPH_uc011mpa.1_Silent_p.V1038V	p.V1038V	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			19	3174	+			1035			Extracellular (Potential).|Plastocyanin-like 6.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.3114G>A																																																																																					0.527	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		12	44	0	0	0	0.001368	0	12	44				
HEPH	9843	broad.mit.edu	37	X	65480070	65480070	+	Silent	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:65480070C>A	ENST00000343002.2	+	18	3829	c.3165C>A	c.(3163-3165)ggC>ggA	p.G1055G	HEPH_ENST00000419594.1_Silent_p.G866G|HEPH_ENST00000441993.2_Silent_p.G1058G|HEPH_ENST00000336279.5_Silent_p.G788G|HEPH_ENST00000519389.1_Silent_p.G1109G|HEPH_ENST00000374727.3_Silent_p.G1058G			Q9BQS7	HEPH_HUMAN	hephaestin	1055	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.G1055G(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCCATGCTGGCATGGAGACCC	0.483																																							uc011moz.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(4)	9						c.(3172-3174)GGC>GGA		hephaestin isoform a							111.0	88.0	96.0					X																	65480070		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65480070C>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3165C>A	X.37:g.65480070C>A						HEPH_uc004dwn.2_Silent_p.G1058G|HEPH_uc004dwo.2_Silent_p.G788G|HEPH_uc010nkr.2_Silent_p.G866G|HEPH_uc011mpa.1_Silent_p.G1058G	p.G1058G	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			19	3234	+			1055			Extracellular (Potential).|Plastocyanin-like 6.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.3174C>A																																																																																					0.483	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		12	31	1	0	0.000151284	0.001855	0.000180462	12	31				
KIAA2022	340533	broad.mit.edu	37	X	73962057	73962057	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:73962057C>A	ENST00000055682.6	-	3	2946	c.2335G>T	c.(2335-2337)Gca>Tca	p.A779S		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	779					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.A779S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCAGCCTTTGCCTCATGAAAT	0.408																																							uc004eby.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(2335-2337)GCA>TCA		hypothetical protein LOC340533							86.0	81.0	82.0					X																	73962057		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962057C>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2335G>T	X.37:g.73962057C>A	ENSP00000055682:p.Ala779Ser						p.A779S	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	2952	-			779					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.2335G>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	5.994	0.367370	0.11352	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32515	1.45;1.45	5.51	1.6	0.23607	.	0.591699	0.17658	N	0.166433	T	0.14270	0.0345	N	0.14661	0.345	0.26967	N	0.965682	B	0.22683	0.073	B	0.21151	0.033	T	0.32955	-0.9887	10	0.07175	T	0.84	0.6085	9.3243	0.37984	0.0:0.6856:0.0:0.3144	.	779	Q5QGS0	K2022_HUMAN	S	779	ENSP00000362567:A779S;ENSP00000055682:A779S	ENSP00000055682:A779S	A	-	1	0	KIAA2022	73878782	0.994000	0.37717	0.306000	0.25113	0.595000	0.36748	0.940000	0.28992	0.126000	0.18424	0.600000	0.82982	GCA		0.408	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		22	101	1	0	1.22574e-08	0.002299	1.75411e-08	22	101				
ZCCHC5	203430	broad.mit.edu	37	X	77912982	77912982	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:77912982G>T	ENST00000321110.1	-	2	1231	c.936C>A	c.(934-936)ctC>ctA	p.L312L		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	312							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L312L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AAGTATCCTGGAGCACAGGTA	0.478																																							uc004edc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(934-936)CTC>CTA		zinc finger, CCHC domain containing 5							45.0	40.0	42.0					X																	77912982		2203	4300	6503	SO:0001819	synonymous_variant	203430						nucleic acid binding|zinc ion binding	g.chrX:77912982G>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.936C>A	X.37:g.77912982G>T							p.L312L	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	1232	-			312					B2RMZ0|Q5JQE9	Silent	SNP	ENST00000321110.1	37	c.936C>A	CCDS14440.1																																																																																				0.478	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		3	17	1	0	0.004672	0.004672	0.00509519	3	17				
LPAR4	2846	broad.mit.edu	37	X	78011436	78011436	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:78011436C>A	ENST00000435339.3	+	2	1456	c.1070C>A	c.(1069-1071)aCa>aAa	p.T357K		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	357					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.T357K(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						AGTGATCAAACAACAAATAAT	0.393																																							uc010nme.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1069-1071)ACA>AAA		lysophosphatidic acid receptor 4							93.0	86.0	88.0					X																	78011436		2203	4298	6501	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78011436C>A	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.1070C>A	X.37:g.78011436C>A	ENSP00000408205:p.Thr357Lys						p.T357K	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	1475	+			357			Cytoplasmic (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.1070C>A	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	1.615	-0.523101	0.04141	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.70986	-0.53;-0.53	4.47	3.6	0.41247	.	0.225320	0.27509	N	0.019052	T	0.42154	0.1190	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.27502	-1.0072	10	0.05959	T	0.93	.	7.3703	0.26798	0.0:0.7923:0.0:0.2077	.	357	Q99677	LPAR4_HUMAN	K	357	ENSP00000408205:T357K;ENSP00000362398:T357K	ENSP00000362398:T357K	T	+	2	0	LPAR4	77898092	0.965000	0.33210	0.995000	0.50966	0.187000	0.23431	2.748000	0.47483	0.896000	0.36366	-0.444000	0.05651	ACA		0.393	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		15	82	1	0	6.31663e-08	0.003163	8.84328e-08	15	82				
CENPI	2491	broad.mit.edu	37	X	100356187	100356187	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:100356187C>T	ENST00000372927.1	+	2	405	c.128C>T	c.(127-129)tCa>tTa	p.S43L	CENPI_ENST00000372926.1_Missense_Mutation_p.S43L|CENPI_ENST00000218507.5_Missense_Mutation_p.S43L|CENPI_ENST00000423383.1_Missense_Mutation_p.S43L	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	43					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.S43L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AAGAACATCTCAAAACATGGA	0.423																																							uc004egx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(127-129)TCA>TTA		centromere protein I							178.0	152.0	161.0					X																	100356187		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100356187C>T	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.128C>T	X.37:g.100356187C>T	ENSP00000362018:p.Ser43Leu					CENPI_uc011mrg.1_Missense_Mutation_p.S43L|CENPI_uc004egy.2_Missense_Mutation_p.S43L	p.S43L	NM_006733	NP_006724	Q92674	CENPI_HUMAN			2	398	+			43					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.128C>T	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	C	2.027	-0.423252	0.04734	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000403304;ENST00000435570;ENST00000372926;ENST00000372927	.	.	.	5.19	-1.93	0.07594	.	1.659030	0.03695	N	0.247764	T	0.22282	0.0537	N	0.04355	-0.22	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.19484	-1.0304	9	0.29301	T	0.29	1.8864	9.6823	0.40078	0.0:0.2981:0.0:0.7019	.	43;43	B4DZL4;Q92674	.;CENPI_HUMAN	L	43	.	ENSP00000218507:S43L	S	+	2	0	CENPI	100242843	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-0.591000	0.05753	-0.411000	0.07530	0.600000	0.82982	TCA		0.423	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		15	119	0	0	0	0.004007	0	15	119				
NRK	203447	broad.mit.edu	37	X	105190361	105190361	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:105190361G>C	ENST00000243300.9	+	26	4561	c.4258G>C	c.(4258-4260)Gaa>Caa	p.E1420Q	NRK_ENST00000428173.2_Missense_Mutation_p.E1421Q|NRK_ENST00000540278.1_5'Flank	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1420	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E1420Q(1)|p.E1421Q(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TATTGGTTCTGAAAAAAGACT	0.393										HNSCC(51;0.14)																													uc004emd.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(4258-4260)GAA>CAA		Nik related kinase							91.0	79.0	83.0					X																	105190361		1857	4090	5947	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105190361G>C	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4258G>C	X.37:g.105190361G>C	ENSP00000434830:p.Glu1420Gln	HNSCC(51;0.14)				NRK_uc011msi.1_5'Flank	p.E1420Q	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			26	4561	+			1420			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.4258G>C		.	.	.	.	.	.	.	.	.	.	G	19.27	3.795470	0.70452	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79033	-1.22;-1.23	5.98	5.98	0.97165	Citron-like (2);	0.000000	0.48286	D	0.000181	T	0.81626	0.4862	N	0.21373	0.66	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.82053	-0.0648	10	0.44086	T	0.13	.	18.1446	0.89651	0.0:0.0:1.0:0.0	.	1420	Q7Z2Y5	NRK_HUMAN	Q	1420;1421	ENSP00000434830:E1420Q;ENSP00000438378:E1421Q	ENSP00000434830:E1420Q	E	+	1	0	NRK	105077017	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.783000	0.85696	2.508000	0.84585	0.600000	0.82982	GAA		0.393	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		6	44	0	0	0	0.001168	0	6	44				
LAMP2	3920	broad.mit.edu	37	X	119575692	119575692	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:119575692T>A	ENST00000200639.4	-	8	1122	c.986A>T	c.(985-987)tAt>tTt	p.Y329F	LAMP2_ENST00000538785.1_Missense_Mutation_p.Y218F|LAMP2_ENST00000434600.2_Missense_Mutation_p.Y329F|LAMP2_ENST00000540603.1_Missense_Mutation_p.Y282F|LAMP2_ENST00000371335.4_Missense_Mutation_p.Y329F			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	329	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)	p.Y329F(3)		endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GTTGCACATATAAGAACTTCC	0.388																																							uc004est.3		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(985-987)TAT>TTT		lysosomal-associated membrane protein 2 isoform							99.0	92.0	94.0					X																	119575692		2203	4300	6503	SO:0001583	missense	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119575692T>A	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.986A>T	X.37:g.119575692T>A	ENSP00000200639:p.Tyr329Phe					LAMP2_uc004ess.3_Missense_Mutation_p.Y329F|LAMP2_uc011mtz.1_Missense_Mutation_p.Y218F|LAMP2_uc011mua.1_Missense_Mutation_p.Y282F|LAMP2_uc010nqp.1_Missense_Mutation_p.Y329F	p.Y329F	NM_002294	NP_002285	P13473	LAMP2_HUMAN			8	1166	-			329			Lumenal (Potential).|Second lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	ENST00000200639.4	37	c.986A>T	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.779800	0.90195	.	.	ENSG00000005893	ENST00000434600;ENST00000538785;ENST00000200639;ENST00000371335;ENST00000540603	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.81682	2.555	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0	T	0.69705	-0.5073	10	0.52906	T	0.07	-20.6555	14.2089	0.65753	0.0:0.0:0.0:1.0	.	282;218;329;329;329	B4E2S7;B7Z2R9;P13473-2;P13473;Q6Q3G8	.;.;.;LAMP2_HUMAN;.	F	329;218;329;329;282	ENSP00000408411:Y329F;ENSP00000440506:Y218F;ENSP00000200639:Y329F;ENSP00000360386:Y329F;ENSP00000440479:Y282F	ENSP00000200639:Y329F	Y	-	2	0	LAMP2	119459720	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.538000	0.82048	1.953000	0.56701	0.481000	0.45027	TAT		0.388	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			20	114	0	0	0	0.001882	0	20	114				
DCAF12L2	340578	broad.mit.edu	37	X	125298989	125298989	+	Silent	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:125298989G>T	ENST00000360028.2	-	1	945	c.919C>A	c.(919-921)Cga>Aga	p.R307R	DCAF12L2_ENST00000538699.1_Silent_p.R307R			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	307								p.R307R(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ACATTCTCTCGGCAGTAGGGC	0.607																																							uc004euk.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(919-921)CGA>AGA		DDB1 and CUL4 associated factor 12-like 2							101.0	104.0	103.0					X																	125298989		2203	4300	6503	SO:0001819	synonymous_variant	340578							g.chrX:125298989G>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.919C>A	X.37:g.125298989G>T							p.R307R	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	946	-			307					B2RN42	Silent	SNP	ENST00000360028.2	37	c.919C>A	CCDS43991.1																																																																																				0.607	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		26	140	1	0	1.7881e-09	0.008361	2.62546e-09	26	140				
ARHGAP36	158763	broad.mit.edu	37	X	130218994	130218994	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:130218994C>A	ENST00000276211.5	+	7	1256	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.S168Y|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S292Y	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	304	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S304Y(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ATGAAGGATTCTCTGCTGCCA	0.463																																							uc004evz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(910-912)TCT>TAT		hypothetical protein LOC158763 precursor							150.0	125.0	133.0					X																	130218994		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130218994C>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.911C>A	X.37:g.130218994C>A	ENSP00000276211:p.Ser304Tyr					ARHGAP36_uc004ewa.2_Missense_Mutation_p.S292Y|ARHGAP36_uc004ewb.2_Missense_Mutation_p.S273Y|ARHGAP36_uc004ewc.2_Missense_Mutation_p.S168Y	p.S304Y	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			7	1256	+			304			Rho-GAP.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.911C>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242507	0.58995	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.3	4.44	0.53790	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.418236	0.20812	N	0.085237	T	0.54208	0.1844	M	0.64404	1.975	0.27608	N	0.948746	P;P;P	0.47484	0.874;0.874;0.896	P;P;P	0.52267	0.568;0.568;0.694	T	0.52997	-0.8500	10	0.87932	D	0	.	8.3806	0.32468	0.0:0.8939:0.0:0.1061	.	273;292;304	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	Y	304;292;273;168	ENSP00000276211:S304Y;ENSP00000359960:S292Y;ENSP00000408515:S273Y;ENSP00000359959:S168Y	ENSP00000276211:S304Y	S	+	2	0	ARHGAP36	130046675	0.980000	0.34600	0.984000	0.44739	0.593000	0.36681	6.705000	0.74644	1.207000	0.43291	0.513000	0.50165	TCT		0.463	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		12	116	1	0	7.03913e-09	0.001368	1.01055e-08	12	116				
IGSF1	3547	broad.mit.edu	37	X	130417006	130417006	+	Silent	SNP	G	G	A	rs376545217		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:130417006G>A	ENST00000361420.3	-	6	979	c.900C>T	c.(898-900)gaC>gaT	p.D300D	IGSF1_ENST00000370903.3_Silent_p.D300D|IGSF1_ENST00000370904.1_Silent_p.D291D|IGSF1_ENST00000370910.1_Silent_p.D291D			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	300	Ig-like C2-type 3.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.D300D(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TATATGATGCGTCATAGTAAA	0.388													G|||	1	0.000264901	0.0	0.0	3775	,	,		16215	0.001		0.0	False		,,,				2504	0.0						uc004ewd.2		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(898-900)GAC>GAT		immunoglobulin superfamily, member 1 isoform 1		G	,,	1,3834		0,0,1,1632,570	118.0	97.0	104.0		900,873,900	0.4	0.9	X		104	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	IGSF1	NM_001170961.1,NM_001170962.1,NM_001555.4	,,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	,,	300/1342,291/1328,300/1337	130417006	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130417006G>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.900C>T	X.37:g.130417006G>A						IGSF1_uc004ewe.3_Silent_p.D289D|IGSF1_uc004ewf.2_Silent_p.D280D	p.D300D	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			6	1138	-			300			Ig-like C2-type 3.|Extracellular (Potential).		B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	c.900C>T	CCDS14629.1																																																																																				0.388	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			17	100	0	0	0	0.00499	0	17	100				
GPR112	139378	broad.mit.edu	37	X	135430934	135430934	+	Missense_Mutation	SNP	C	C	T	rs141778568	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:135430934C>T	ENST00000394143.1	+	6	5360	c.5069C>T	c.(5068-5070)tCc>tTc	p.S1690F	GPR112_ENST00000412101.1_Missense_Mutation_p.S1485F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1485F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1627F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1690F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1690					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S1690F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTATTTCCTCCATTCCAAAG	0.448																																							uc004ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(5068-5070)TCC>TTC		G-protein coupled receptor 112							141.0	132.0	135.0					X																	135430934		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430934C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5069C>T	X.37:g.135430934C>T	ENSP00000377699:p.Ser1690Phe					GPR112_uc010nsb.1_Missense_Mutation_p.S1485F|GPR112_uc010nsc.1_Missense_Mutation_p.S1457F	p.S1690F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	5360	+	Acute lymphoblastic leukemia(192;0.000127)		1690			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.5069C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	13.06	2.123823	0.37436	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41065	1.05;1.05;1.01;1.12;1.01	2.99	1.15	0.20763	.	.	.	.	.	T	0.28067	0.0692	L	0.34521	1.04	0.09310	N	1	B;B;B	0.27229	0.172;0.023;0.014	B;B;B	0.24394	0.053;0.017;0.007	T	0.27020	-1.0086	9	0.87932	D	0	.	4.32	0.11013	0.0:0.6535:0.0:0.3465	.	1627;1485;1690	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	F	1690;1690;1485;1627;1485	ENSP00000377699:S1690F;ENSP00000359686:S1690F;ENSP00000416526:S1485F;ENSP00000287534:S1627F;ENSP00000377697:S1485F	ENSP00000287534:S1627F	S	+	2	0	GPR112	135258600	0.030000	0.19436	0.014000	0.15608	0.807000	0.45602	1.208000	0.32345	0.463000	0.27118	0.519000	0.50382	TCC		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			45	146	0	0	0	0.009718	0	45	146				
GPR112	139378	broad.mit.edu	37	X	135455157	135455157	+	Silent	SNP	G	G	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:135455157G>A	ENST00000394143.1	+	15	8001	c.7710G>A	c.(7708-7710)cgG>cgA	p.R2570R	GPR112_ENST00000412101.1_Silent_p.R2365R|GPR112_ENST00000394141.1_Silent_p.R2365R|GPR112_ENST00000287534.4_Silent_p.R2368R|GPR112_ENST00000370652.1_Silent_p.R2570R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2570					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R2570R(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGTGCTGCGGGGGGACCACA	0.537																																							uc004ezu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(7708-7710)CGG>CGA		G-protein coupled receptor 112							251.0	224.0	233.0					X																	135455157		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135455157G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7710G>A	X.37:g.135455157G>A						GPR112_uc010nsb.1_Silent_p.R2365R	p.R2570R	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			15	8001	+	Acute lymphoblastic leukemia(192;0.000127)		2570			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.7710G>A	CCDS35409.1																																																																																				0.537	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			48	321	0	0	0	0.00361	0	48	321				
MCF2	4168	broad.mit.edu	37	X	138713553	138713553	+	Splice_Site	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:138713553C>A	ENST00000370576.4	-	3	498		c.e3+1		MCF2_ENST00000370578.4_Splice_Site|MCF2_ENST00000414978.1_Splice_Site|MCF2_ENST00000520602.1_Splice_Site|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000338585.6_Splice_Site|MCF2_ENST00000370573.4_Splice_Site|MCF2_ENST00000519895.1_Splice_Site	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(3)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGACAACATACATTTCTGAAG	0.373																																							uc004fau.2		NA																	3	Unknown(3)		lung(3)	lung(1)|pleura(1)	2						c.e3+1		MCF.2 cell line derived transforming sequence							202.0	176.0	185.0					X																	138713553		2203	4300	6503	SO:0001630	splice_region_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138713553C>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.288+1G>T	X.37:g.138713553C>A						MCF2_uc004fav.2_Splice_Site_p.N96_splice|MCF2_uc011mwl.1_Intron|MCF2_uc010nsh.1_Splice_Site_p.N96_splice|MCF2_uc011mwm.1_Intron|MCF2_uc011mwn.1_Splice_Site_p.N241_splice|MCF2_uc004faw.2_Splice_Site_p.N156_splice|MCF2_uc011mwo.1_Splice_Site_p.N156_splice	p.N96_splice	NM_005369	NP_005360	P10911	MCF2_HUMAN			3	582	-	Acute lymphoblastic leukemia(192;0.000127)							B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Splice_Site	SNP	ENST00000370576.4	37	c.288_splice	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563758	0.86335	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6429	0.88141	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCF2	138541219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.920000	0.75799	2.488000	0.83962	0.594000	0.82650	.		0.373	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	Intron	35	138	1	0	3.2961e-07	0.004878	4.54408e-07	35	138				
MAGEC3	139081	broad.mit.edu	37	X	140969466	140969466	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:140969466A>G	ENST00000298296.1	+	4	793	c.793A>G	c.(793-795)Agt>Ggt	p.S265G	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	265	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.S265G(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGTCTGAGTGATGAGCA	0.478																																							uc011mwp.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(793-795)AGT>GGT		melanoma antigen family C, 3 isoform 1							138.0	128.0	131.0					X																	140969466		2202	4300	6502	SO:0001583	missense	139081							g.chrX:140969466A>G	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.793A>G	X.37:g.140969466A>G	ENSP00000298296:p.Ser265Gly						p.S265G	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			4	793	+	Acute lymphoblastic leukemia(192;6.56e-05)		265			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.793A>G	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	A	8.843	0.942678	0.18281	.	.	ENSG00000165509	ENST00000298296	T	0.04758	3.56	2.26	-2.09	0.07232	.	.	.	.	.	T	0.03695	0.0105	L	0.42632	1.34	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.45556	-0.9253	9	0.25751	T	0.34	.	2.172	0.03852	0.3977:0.0:0.3486:0.2537	.	265	Q8TD91	MAGC3_HUMAN	G	265	ENSP00000298296:S265G	ENSP00000298296:S265G	S	+	1	0	MAGEC3	140797132	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.008000	0.13197	-0.607000	0.05738	-0.405000	0.06341	AGT		0.478	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		4	204	0	0	0	0.009096	0	4	204				
MAGEC1	9947	broad.mit.edu	37	X	140995831	140995831	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:140995831T>C	ENST00000285879.4	+	4	2927	c.2641T>C	c.(2641-2643)Tcc>Ccc	p.S881P	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	881								p.S881P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATATACAAGTTCCTCAGACAC	0.488										HNSCC(15;0.026)																													uc004fbt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2641-2643)TCC>CCC		melanoma antigen family C, 1							143.0	148.0	146.0					X																	140995831		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995831T>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2641T>C	X.37:g.140995831T>C	ENSP00000285879:p.Ser881Pro	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.S881P	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2927	+	Acute lymphoblastic leukemia(192;6.56e-05)		881					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2641T>C	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	2.852	-0.238070	0.05944	.	.	ENSG00000155495	ENST00000285879	T	0.02236	4.38	0.798	-1.6	0.08426	.	.	.	.	.	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.06405	0.002	T	0.47315	-0.9127	8	0.62326	D	0.03	.	.	.	.	.	881	O60732	MAGC1_HUMAN	P	881	ENSP00000285879:S881P	ENSP00000285879:S881P	S	+	1	0	MAGEC1	140823497	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-3.019000	0.00643	-1.614000	0.01575	-1.329000	0.01275	TCC		0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		41	215	0	0	0	0.00361	0	41	215				
MAGEA8	4107	broad.mit.edu	37	X	149013559	149013559	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:149013559A>T	ENST00000542674.1	+	3	1034	c.513A>T	c.(511-513)gaA>gaT	p.E171D	MAGEA8_ENST00000535454.1_Missense_Mutation_p.E171D|MAGEA8_ENST00000286482.1_Missense_Mutation_p.E171D	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	171	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E171D(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGAAGGAAGTGGACCCTG	0.522																																							uc004fdw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(511-513)GAA>GAT		melanoma antigen family A, 8							83.0	73.0	76.0					X																	149013559		2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013559A>T		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.513A>T	X.37:g.149013559A>T	ENSP00000443776:p.Glu171Asp						p.E171D	NM_005364	NP_005355	P43361	MAGA8_HUMAN			3	728	+	Acute lymphoblastic leukemia(192;6.56e-05)		171			MAGE.		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.513A>T	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	9.978	1.227466	0.22542	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.08720	3.06;3.06;3.06	0.963	-0.244	0.13031	.	0.200723	0.50627	D	0.000104	T	0.11537	0.0281	M	0.87827	2.91	0.09310	N	1	B	0.11235	0.004	B	0.17433	0.018	T	0.25433	-1.0132	10	0.72032	D	0.01	.	3.252	0.06818	0.3543:0.0:0.6457:0.0	.	171	P43361	MAGA8_HUMAN	D	171	ENSP00000438293:E171D;ENSP00000443776:E171D;ENSP00000286482:E171D	ENSP00000286482:E171D	E	+	3	2	MAGEA8	148774217	0.001000	0.12720	0.030000	0.17652	0.235000	0.25334	-0.219000	0.09228	-0.092000	0.12417	0.151000	0.16131	GAA		0.522	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		8	62	0	0	0	0.006214	0	8	62				
MAGEA6	4105	broad.mit.edu	37	X	151869542	151869542	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:151869542C>A	ENST00000329342.5	+	3	457	c.232C>A	c.(232-234)Cct>Act	p.P78T		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	78								p.P78T(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CATGAACTACCCTCTCTGGAG	0.587																																							uc004ffq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(232-234)CCT>ACT		melanoma antigen family A, 6							18.0	19.0	19.0					X																	151869542		2199	4265	6464	SO:0001583	missense	4105						protein binding	g.chrX:151869542C>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.232C>A	X.37:g.151869542C>A	ENSP00000329199:p.Pro78Thr					MAGEA6_uc004ffr.1_Missense_Mutation_p.P78T|MAGEA2_uc010nto.2_Intron	p.P78T	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	426	+	Acute lymphoblastic leukemia(192;6.56e-05)		78					A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.232C>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-4.027322	0.00002	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.03441	3.93;3.93;3.93	0.578	-1.16	0.09678	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.00784	0.0026	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35822	-0.9773	8	0.02654	T	1	.	.	.	.	.	78	P43360	MAGA6_HUMAN	T	78	ENSP00000329199:P78T;ENSP00000403303:P78T;ENSP00000401806:P78T	ENSP00000329199:P78T	P	+	1	0	MAGEA6	151620198	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.220000	0.02971	-2.289000	0.00667	-1.616000	0.00795	CCT		0.587	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		6	61	1	0	2.74318e-10	0.006214	4.11477e-10	6	61				
AVPR2	554	broad.mit.edu	37	X	153171639	153171639	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:153171639C>G	ENST00000358927.2	+	3	888	c.679C>G	c.(679-681)Ctc>Gtc	p.L227V	AVPR2_ENST00000370049.1_Missense_Mutation_p.L227V|AVPR2_ENST00000337474.5_Missense_Mutation_p.L227V			P30518	V2R_HUMAN	arginine vasopressin receptor 2	227					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)	p.L227V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CTGCCAGGTGCTCATCTTCCG	0.682																																							uc004fjh.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(679-681)CTC>GTC		arginine vasopressin receptor 2 isoform 1	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						65.0	63.0	64.0					X																	153171639		2203	4300	6503	SO:0001583	missense	554				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153171639C>G	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.679C>G	X.37:g.153171639C>G	ENSP00000351805:p.Leu227Val					AVPR2_uc004fjg.3_Missense_Mutation_p.L16V|AVPR2_uc004fji.2_Missense_Mutation_p.L227V	p.L227V	NM_000054	NP_000045	P30518	V2R_HUMAN			2	750	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		227			Cytoplasmic (Potential).		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.679C>G	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	c	10.19	1.282221	0.23392	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.538007	0.18460	N	0.140544	T	0.47395	0.1443	L	0.51914	1.62	0.28201	N	0.927342	P;P	0.47253	0.869;0.892	P;P	0.52031	0.561;0.688	T	0.40156	-0.9578	10	0.59425	D	0.04	-29.4505	10.3088	0.43695	0.1979:0.8021:0.0:0.0	.	227;227	P30518-2;P30518	.;V2R_HUMAN	V	227	ENSP00000351805:L227V;ENSP00000393513:L227V;ENSP00000338072:L227V;ENSP00000359066:L227V	ENSP00000338072:L227V	L	+	1	0	AVPR2	152824833	0.268000	0.24133	0.997000	0.53966	0.140000	0.21249	0.912000	0.28597	1.802000	0.52723	0.263000	0.19301	CTC		0.682	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			8	57	0	0	0	0.008291	0	8	57				
IL9R	3581	broad.mit.edu	37	X	155239571	155239571	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:155239571G>T	ENST00000244174.5	+	9	1242	c.1063G>T	c.(1063-1065)Gcc>Tcc	p.A355S	IL9R_ENST00000424344.3_Missense_Mutation_p.A334S|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	355					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.A355S(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGTCCAGGAGGCCACTGCACT	0.667																																							uc004fnv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1063-1065)GCC>TCC		interleukin 9 receptor precursor							23.0	40.0	34.0					X																	155239571		2131	4271	6402	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155239571G>T	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1063G>T	X.37:g.155239571G>T	ENSP00000244174:p.Ala355Ser					IL9R_uc004fnu.1_3'UTR	p.A355S	NM_002186	NP_002177	Q01113	IL9R_HUMAN			9	1242	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		355			Cytoplasmic (Potential).		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.1063G>T	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	g	5.627	0.300316	0.10678	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.21031	2.03;2.04	1.44	0.488	0.16848	.	1.338230	0.05320	N	0.526348	T	0.12774	0.0310	.	.	.	0.09310	N	1	B	0.21520	0.057	B	0.20767	0.031	T	0.31806	-0.9930	9	0.30078	T	0.28	-9.4991	3.8266	0.08856	0.26:0.0:0.74:0.0	.	355	Q01113	IL9R_HUMAN	S	355;334	ENSP00000244174:A355S;ENSP00000388918:A334S	ENSP00000244174:A355S	A	+	1	0	IL9R	154892765	0.026000	0.19158	0.002000	0.10522	0.005000	0.04900	0.587000	0.23909	0.090000	0.17273	0.287000	0.19450	GCC		0.667	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		7	92	1	0	8.12818e-05	0.001984	9.7994e-05	7	92				
OR8H3	390152	broad.mit.edu	37	11	55890477	55890477	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr11:55890477delC	ENST00000313472.3	+	1	629	c.629delC	c.(628-630)tccfs	p.S210fs		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTGATGGTGTCCCTTATCACA	0.423																																							uc001nii.1		NA																	0				ovary(2)	2						c.(628-630)TCCfs		olfactory receptor, family 8, subfamily H,							197.0	178.0	184.0					11																	55890477		2201	4296	6497	SO:0001589	frameshift_variant	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890477delC	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.629delC	11.37:g.55890477delC	ENSP00000323928:p.Ser210fs						p.S210fs	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	629	+	Esophageal squamous(21;0.00693)		210			Helical; Name=5; (Potential).		Q6IFB7	Frame_Shift_Del	DEL	ENST00000313472.3	37	c.629delC	CCDS31519.1																																																																																				0.423	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		13	179	NA	NA	NA	NA	NA	13	179	---	---	---	---
SLC2A3	6515	broad.mit.edu	37	12	8075436	8075437	+	Frame_Shift_Ins	INS	-	-	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:8075436_8075437insT	ENST00000075120.7	-	9	1492_1493	c.1252_1253insA	c.(1252-1254)ttgfs	p.L418fs		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	418					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGGGAAGAGCAATCCGACTAGG	0.53																																					Colon(96;424 1461 14416 20933 23688)	Colon(96;424 1461 14416 20933 23688)	uc001qtr.2		NA																	0				ovary(3)|pancreas(1)	4						c.(1252-1254)TTGfs		solute carrier family 2 (facilitated glucose																																				SO:0001589	frameshift_variant	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8075436_8075437insT	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1252_1253insA	12.37:g.8075436_8075437insT	ENSP00000075120:p.Leu418fs						p.L418fs	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	9	1514_1515	-			418			Helical; Name=11; (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Frame_Shift_Ins	INS	ENST00000075120.7	37	c.1252_1253insA	CCDS8586.1																																																																																				0.530	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		33	97	NA	NA	NA	NA	NA	33	97	---	---	---	---
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr12:57422572_57422573insT	ENST00000442789.2	-	29	3385_3386	c.3098_3099insA	c.(3097-3099)aagfs	p.K1033fs	TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.K871fs|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.K1033fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AATGACTCCCCTTTTTTTTGTA	0.559																																							uc001smw.3		NA																	1	Unknown(1)		skin(1)	skin(4)|ovary(2)|urinary_tract(1)	7						c.(3097-3099)AAGfs		myosin IA																																				SO:0001589	frameshift_variant	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57422572_57422573insT	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.3099dupA	12.37:g.57422580_57422580dupT	ENSP00000393392:p.Lys1033fs					MYO1A_uc010sqz.1_Frame_Shift_Ins_p.K871fs|MYO1A_uc009zpd.2_Frame_Shift_Ins_p.K1033fs	p.K1033fs	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			28	3341_3342	-			1033					Q9UQD7	Frame_Shift_Ins	INS	ENST00000442789.2	37	c.3098_3099insA	CCDS8929.1																																																																																				0.559	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		7	146	NA	NA	NA	NA	NA	7	146	---	---	---	---
GRHL1	29841	broad.mit.edu	37	2	10136084	10136090	+	Frame_Shift_Del	DEL	AAGAACC	AAGAACC	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	AAGAACC	AAGAACC	-	-	AAGAACC	AAGAACC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:10136084_10136090delAAGAACC	ENST00000324907.9	+	13	1713_1719	c.1577_1583delAAGAACC	c.(1576-1584)gaagaaccafs	p.EEP526fs	GRHL1_ENST00000480736.1_5'UTR|GRHL1_ENST00000405379.2_Frame_Shift_Del_p.EEP526fs|GRHL1_ENST00000324883.5_Frame_Shift_Del_p.EEP337fs	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	526					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GCCCGGATAGAAGAACCAAAGAGAGGT	0.449																																							uc002raa.2		NA																	0				pancreas(1)|skin(1)	2						c.(1576-1584)GAAGAACCAfs		grainyhead-like 1																																				SO:0001589	frameshift_variant	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10136084_10136090delAAGAACC	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1577_1583delAAGAACC	2.37:g.10136084_10136090delAAGAACC	ENSP00000324693:p.Glu526fs					GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Frame_Shift_Del_p.E337fs|GRHL1_uc010yjb.1_Frame_Shift_Del_p.E375fs	p.E526fs	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	13	1748_1754	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		526_528					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Frame_Shift_Del	DEL	ENST00000324907.9	37	c.1577_1583delAAGAACC	CCDS33144.2																																																																																				0.449	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		25	186	NA	NA	NA	NA	NA	25	186	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179395922	179395931	+	Frame_Shift_Del	DEL	GACGGTCATG	GACGGTCATG	-	rs371893623|rs368992068|rs200782068		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	GACGGTCATG	GACGGTCATG	-	-	GACGGTCATG	GACGGTCATG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:179395922_179395931delGACGGTCATG	ENST00000591111.1	-	308	100712_100721	c.100488_100497delCATGACCGTC	c.(100486-100497)tccatgaccgtcfs	p.SMTV33496fs	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.SMTV26197fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.SMTV26264fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.SMTV26072fs|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.SMTV32569fs|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.SMTV35137fs|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588257.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33496	Ig-like 147.				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)			CGCCCTCGTAGACGGTCATGGACCGTGGCT	0.481																																							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.(97705-97716)TCCATGACCGTCfs		titin isoform N2-A																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395922_179395931delGACGGTCATG	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.100488_100497delCATGACCGTC	2.37:g.179395922_179395931delGACGGTCATG	ENSP00000465570:p.Ser33496fs					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.S26264fs|TTN_uc010zfi.1_Frame_Shift_Del_p.S26197fs|TTN_uc010zfj.1_Frame_Shift_Del_p.S26072fs|TTN_uc002umq.2_5'Flank	p.S32569fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	97931_97940	-			33496_33499					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.97707_97716delCATGACCGTC																																																																																					0.481	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	191	NA	NA	NA	NA	NA	28	191	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230661474	230661475	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr2:230661474_230661475insA	ENST00000283943.5	-	24	3601_3602	c.3423_3424insT	c.(3421-3426)cttgtafs	p.V1142fs	TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.V1190fs|TRIP12_ENST00000389045.3_Frame_Shift_Ins_p.V872fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1142					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CGGATTTCTACAAGGCACTCAG	0.361																																							uc002vpw.1		NA																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(3421-3426)CTTGTAfs		thyroid hormone receptor interactor 12																																				SO:0001589	frameshift_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230661474_230661475insA	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3424dupT	2.37:g.230661476_230661476dupA	ENSP00000283943:p.Val1142fs					TRIP12_uc002vpx.1_Frame_Shift_Ins_p.L1189fs|TRIP12_uc002vpy.1_Frame_Shift_Ins_p.L871fs|TRIP12_uc010zlz.1_RNA	p.L1141fs	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	24	3532_3533	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1141_1142					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Ins	INS	ENST00000283943.5	37	c.3423_3424insT	CCDS33391.1																																																																																				0.361	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		8	84	NA	NA	NA	NA	NA	8	84	---	---	---	---
SLC23A2	9962	broad.mit.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:4850569delG	ENST00000379333.1	-	12	1625	c.1233delC	c.(1231-1233)cccfs	p.P411fs	SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SLC23A2_ENST00000468355.1_5'UTR|SNORA31_ENST00000516287.1_RNA|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	411					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527																																							uc002wlg.1		NA																	1	Deletion - Frameshift(1)		ovary(1)	ovary(2)	2						c.(1231-1233)CCCfs		solute carrier family 23 (nucleobase							65.0	70.0	68.0					20																	4850569		2203	4300	6503	SO:0001589	frameshift_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4850569delG	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1233delC	20.37:g.4850569delG	ENSP00000368637:p.Pro411fs					SLC23A2_uc010zqr.1_Frame_Shift_Del_p.P296fs|SLC23A2_uc002wlh.1_Frame_Shift_Del_p.P411fs|SLC23A2_uc002wli.2_Frame_Shift_Del_p.P410fs	p.P411fs	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN			12	1608	-			411					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Frame_Shift_Del	DEL	ENST00000379333.1	37	c.1233delC	CCDS13085.1																																																																																				0.527	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			7	147	NA	NA	NA	NA	NA	7	147	---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9561435	9561435	+	Frame_Shift_Del	DEL	C	C	-	rs142065974	byFrequency	TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:9561435delC	ENST00000378429.3	-	5	893	c.347delG	c.(346-348)ggtfs	p.G116fs	PAK7_ENST00000378423.1_Frame_Shift_Del_p.G116fs|PAK7_ENST00000353224.5_Frame_Shift_Del_p.G116fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	116	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTGGCCTGGACCGTGGCTGGA	0.542																																							uc002wnl.2		NA																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(346-348)GGTfs		p21-activated kinase 7							161.0	165.0	163.0					20																	9561435		2203	4300	6503	SO:0001589	frameshift_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561435delC	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.347delG	20.37:g.9561435delC	ENSP00000367686:p.Gly116fs					PAK7_uc002wnk.2_Frame_Shift_Del_p.G116fs|PAK7_uc002wnj.2_Frame_Shift_Del_p.G116fs|PAK7_uc010gby.1_Frame_Shift_Del_p.G116fs	p.G116fs	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	892	-			116			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Frame_Shift_Del	DEL	ENST00000378429.3	37	c.347delG	CCDS13107.1																																																																																				0.542	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			40	207	NA	NA	NA	NA	NA	40	207	---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36869444	36869447	+	Frame_Shift_Del	DEL	GTGG	GTGG	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	GTGG	GTGG	-	-	GTGG	GTGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:36869444_36869447delGTGG	ENST00000279024.4	-	3	1357_1360	c.1086_1089delCCAC	c.(1084-1089)acccacfs	p.TH362fs		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	362										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TTTCTGAGTTGTGGGTGGGTGCTT	0.544																																							uc002xhy.1		NA																	0				ovary(4)|pancreas(1)	5						c.(1084-1089)ACCCACfs		hypothetical protein LOC85449																																				SO:0001589	frameshift_variant	85449							g.chr20:36869444_36869447delGTGG	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1086_1089delCCAC	20.37:g.36869448_36869451delGTGG	ENSP00000279024:p.Thr362fs					KIAA1755_uc002xhz.1_Frame_Shift_Del_p.T362fs	p.T362fs	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			3	1358_1361	-		Myeloproliferative disorder(115;0.00874)	362_363					Q9C0A8	Frame_Shift_Del	DEL	ENST00000279024.4	37	c.1086_1089delCCAC	CCDS33467.1																																																																																				0.544	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		49	384	NA	NA	NA	NA	NA	49	384	---	---	---	---
FAM83D	81610	broad.mit.edu	37	20	37580383	37580383	+	Frame_Shift_Del	DEL	G	G	-	rs371837374		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr20:37580383delG	ENST00000217429.4	+	4	1109	c.1068delG	c.(1066-1068)ctgfs	p.L356fs		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	326					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGCTCACCCTGGGCAACCTGC	0.597																																							uc002xjg.2		NA																	0				ovary(3)	3						c.(1066-1068)CTGfs		hypothetical protein LOC81610							91.0	97.0	95.0					20																	37580383		2040	4169	6209	SO:0001589	frameshift_variant	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580383delG	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1068delG	20.37:g.37580383delG	ENSP00000217429:p.Leu356fs						p.L356fs	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			4	1109	+		Myeloproliferative disorder(115;0.00878)	326					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Frame_Shift_Del	DEL	ENST00000217429.4	37	c.1068delG	CCDS42872.1																																																																																				0.597	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			9	133	NA	NA	NA	NA	NA	9	133	---	---	---	---
KRTAP10-6	386674	broad.mit.edu	37	21	46011972	46011972	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr21:46011972delC	ENST00000400368.1	-	1	414	c.394delG	c.(394-396)gatfs	p.D132fs	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	132	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CATGAAGAATCCCCACAGCAG	0.637																																							uc002zfm.2		NA																	0					0						c.(394-396)GATfs		keratin associated protein 10-6							54.0	85.0	75.0					21																	46011972		2105	4245	6350	SO:0001589	frameshift_variant	386674					keratin filament		g.chr21:46011972delC	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.394delG	21.37:g.46011972delC	ENSP00000383219:p.Asp132fs					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.D132fs	NM_198688	NP_941961	P60371	KR106_HUMAN			1	415	-			132			29 X 5 AA repeats of C-C-X(3).|10.			Frame_Shift_Del	DEL	ENST00000400368.1	37	c.394delG	CCDS42959.1																																																																																				0.637	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		17	55	NA	NA	NA	NA	NA	17	55	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127681105	127681105	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr5:127681105delC	ENST00000508053.1	-	30	4135	c.3161delG	c.(3160-3162)cgcfs	p.R1054fs	FBN2_ENST00000262464.4_Frame_Shift_Del_p.R1054fs|FBN2_ENST00000508989.1_Frame_Shift_Del_p.R1021fs			P35556	FBN2_HUMAN	fibrillin 2	1054					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCCAGCCCCGCGGGGGCACAG	0.622																																							uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(3160-3162)CGCfs		fibrillin 2 precursor							81.0	87.0	85.0					5																	127681105		2203	4300	6503	SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127681105delC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3161delG	5.37:g.127681105delC	ENSP00000424571:p.Arg1054fs					FBN2_uc003kuv.2_Frame_Shift_Del_p.R1021fs	p.R1054fs	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	24	3600	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1054					B4DU01|Q59ES6	Frame_Shift_Del	DEL	ENST00000508053.1	37	c.3161delG	CCDS34222.1																																																																																				0.622	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		16	112	NA	NA	NA	NA	NA	16	112	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38750806	38750806	+	Frame_Shift_Del	DEL	G	G	-	rs141715565		TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr6:38750806delG	ENST00000359357.3	+	15	1889	c.1635delG	c.(1633-1635)ccgfs	p.P545fs	DNAH8_ENST00000449981.2_Frame_Shift_Del_p.P762fs|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.P545fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	545					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATCAAGTCCGGACGGTAAAG	0.368																																							uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(1633-1635)CCGfs		dynein, axonemal, heavy polypeptide 8							102.0	96.0	98.0					6																	38750806		2203	4300	6503	SO:0001589	frameshift_variant	1769							g.chr6:38750806delG	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1635delG	6.37:g.38750806delG	ENSP00000352312:p.Pro545fs						p.P545fs	NM_001371	NP_001362					15	2235	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Del	DEL	ENST00000359357.3	37	c.1635delG																																																																																					0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		8	73	NA	NA	NA	NA	NA	8	73	---	---	---	---
LAT2	7462	broad.mit.edu	37	7	73630349	73630357	+	In_Frame_Del	DEL	TGGTGCTGT	TGGTGCTGT	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	TGGTGCTGT	TGGTGCTGT	-	-	TGGTGCTGT	TGGTGCTGT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:73630349_73630357delTGGTGCTGT	ENST00000460943.1	+	3	933_941	c.44_52delTGGTGCTGT	c.(43-54)ctggtgctgttg>ctg	p.15_18LVLL>L	LAT2_ENST00000344995.5_In_Frame_Del_p.15_18LVLL>L|LAT2_ENST00000275635.7_In_Frame_Del_p.15_18LVLL>L|LAT2_ENST00000398475.1_In_Frame_Del_p.15_18LVLL>L	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GCAGCGCTGCTGGTGCTGTTGGGGGTGGC	0.632																																							uc003uag.2		NA																	0					0						c.(43-54)CTGGTGCTGTTG>CTG		linker for activation of T cells family member																																				SO:0001651	inframe_deletion	7462				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding	g.chr7:73630349_73630357delTGGTGCTGT	AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"""linker for activation of B cells"", ""non-T cell activation linker"", ""linker for activation of T cells, transmembrane adaptor 2"""	605719	"""Williams-Beuren syndrome chromosome region 5"""	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.44_52delTGGTGCTGT	7.37:g.73630349_73630357delTGGTGCTGT	ENSP00000420494:p.Leu15_Leu17del					RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_In_Frame_Del_p.15_18LVLL>L|LAT2_uc003uai.2_In_Frame_Del_p.15_18LVLL>L|LAT2_uc010lbo.2_RNA	p.15_18LVLL>L	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN			3	594_602	+			15_18			Helical; Signal-anchor for type III membrane protein; (Potential).		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	In_Frame_Del	DEL	ENST00000460943.1	37	c.44_52delTGGTGCTGT	CCDS5566.2																																																																																				0.632	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277062.1			13	116	NA	NA	NA	NA	NA	13	116	---	---	---	---
FAM131B	9715	broad.mit.edu	37	7	143053878	143053878	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:143053878delC	ENST00000409408.1	-	6	2472	c.764delG	c.(763-765)ggafs	p.G255fs	FAM131B_ENST00000409578.1_Frame_Shift_Del_p.G271fs|FAM131B_ENST00000443739.2_Frame_Shift_Del_p.G283fs|FAM131B_ENST00000409222.3_Frame_Shift_Del_p.G255fs|FAM131B_ENST00000409346.1_Frame_Shift_Del_p.G255fs			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	255										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GTCAGTGTCTCCCCCCAGCAA	0.607																																							uc003wct.2		NA																	0					0						c.(763-765)GGAfs		hypothetical protein LOC9715 isoform b							79.0	86.0	84.0					7																	143053878		2203	4300	6503	SO:0001589	frameshift_variant	9715							g.chr7:143053878delC	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.764delG	7.37:g.143053878delC	ENSP00000387017:p.Gly255fs					FAM131B_uc010loz.2_Frame_Shift_Del_p.G223fs|FAM131B_uc003wcu.3_Frame_Shift_Del_p.G255fs|FAM131B_uc010lpa.2_Frame_Shift_Del_p.G283fs	p.G255fs	NM_014690	NP_055505	Q86XD5	F131B_HUMAN			6	2470	-	Melanoma(164;0.205)		255					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Frame_Shift_Del	DEL	ENST00000409408.1	37	c.764delG	CCDS5882.1																																																																																				0.607	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		36	140	NA	NA	NA	NA	NA	36	140	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146536957	146536958	+	Frame_Shift_Ins	INS	-	-	T			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chr7:146536957_146536958insT	ENST00000361727.3	+	3	879_880	c.363_364insT	c.(364-366)agafs	p.R122fs		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	122	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCGACACAGGGAGAAACTGGAA	0.45										HNSCC(39;0.1)																													uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(361-366)GGGAGAfs		cell recognition molecule Caspr2 precursor																																				SO:0001589	frameshift_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146536957_146536958insT	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	Exception_encountered	7.37:g.146536957_146536958insT	ENSP00000354778:p.Arg122fs	HNSCC(39;0.1)					p.G121fs	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		3	879_880	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	121_122			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Frame_Shift_Ins	INS	ENST00000361727.3	37	c.363_364insT	CCDS5889.1																																																																																				0.450	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			13	36	NA	NA	NA	NA	NA	13	36	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44969432	44969432	+	Frame_Shift_Del	DEL	T	T	-			TCGA-75-5126-01A-01D-1753-08	TCGA-75-5126-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1ad138-a59e-4f5d-8382-54c585c9298c	dc6811d5-d075-4023-93a5-3a26c10fcd65	g.chrX:44969432delT	ENST00000377967.4	+	28	4155	c.4114delT	c.(4114-4116)tttfs	p.F1372fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.F1379fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.F1293fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.F1327fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1372					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTTGGAAAACTTTGTGGTGCT	0.378			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NA		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		6	Whole gene deletion(6)		oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(4114-4116)TTTfs		ubiquitously transcribed tetratricopeptide							141.0	131.0	134.0					X																	44969432		2203	4300	6503	SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969432delT	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4114delT	X.37:g.44969432delT	ENSP00000367203:p.Phe1372fs					KDM6A_uc011mkz.1_Frame_Shift_Del_p.F1424fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.F1327fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.F1379fs|KDM6A_uc011mlc.1_Frame_Shift_Del_p.F1076fs|KDM6A_uc011mld.1_Frame_Shift_Del_p.F1011fs	p.F1372fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN			28	4489	+			1372					Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.4114delT	CCDS14265.1																																																																																				0.378	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		28	117	NA	NA	NA	NA	NA	28	117	---	---	---	---
