#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	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_tumor_sample
VPS13D	55187	broad.mit.edu	37	1	12460316	12460316	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:12460316G>A	ENST00000358136.3	+	61	11843	c.11713G>A	c.(11713-11715)Gag>Aag	p.E3905K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E3880K|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGAGGTCATCGAGACCGGCCC	0.552																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(11713-11715)GAG>AAG		vacuolar protein sorting 13D isoform 1							119.0	98.0	105.0					1																	12460316		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12460316G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11713G>A	1.37:g.12460316G>A	ENSP00000350854:p.Glu3905Lys					VPS13D_uc001atw.2_Missense_Mutation_p.E3880K|VPS13D_uc001atx.2_Missense_Mutation_p.E3092K|VPS13D_uc009vnl.2_RNA	p.E3905K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	61	11854	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3904						Missense_Mutation	SNP	ENST00000358136.3	37	c.11713G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434733	0.43224	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.54479	0.57;0.57	6.03	6.03	0.97812	.	0.315609	0.40728	N	0.001037	T	0.39600	0.1084	N	0.16903	0.455	0.80722	D	1	P;B	0.50617	0.937;0.255	B;B	0.39590	0.304;0.023	T	0.19418	-1.0306	10	0.27785	T	0.31	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	3880;3904	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	3880;3905	ENSP00000348666:E3880K;ENSP00000350854:E3905K	ENSP00000348666:E3880K	E	+	1	0	VPS13D	12382903	1.000000	0.71417	0.969000	0.41365	0.235000	0.25334	9.167000	0.94773	2.854000	0.98071	0.655000	0.94253	GAG		0.552	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		14	32	0	0	0	0.024245	0	14	32		
CASP9	842	broad.mit.edu	37	1	15831211	15831211	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:15831211C>T	ENST00000333868.5	-	6	857	c.763G>A	c.(763-765)Gga>Aga	p.G255R	CASP9_ENST00000546424.1_Missense_Mutation_p.G255R|CASP9_ENST00000375890.4_Missense_Mutation_p.G172R|CASP9_ENST00000348549.5_Intron	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	255					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ACAGGGCATCCATCTGTGCCG	0.552																																						uc001awn.2		NaN																	0				central_nervous_system(1)|kidney(1)	2						c.(763-765)GGA>AGA		caspase 9 isoform alpha preproprotein							64.0	63.0	63.0					1																	15831211		2203	4300	6503	SO:0001583	missense	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15831211C>T	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.763G>A	1.37:g.15831211C>T	ENSP00000330237:p.Gly255Arg					CASP9_uc001awm.1_Missense_Mutation_p.G255R|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_Missense_Mutation_p.G99R|CASP9_uc009voi.2_Missense_Mutation_p.G99R|CASP9_uc010obm.1_Missense_Mutation_p.G172R|CASP9_uc001awq.2_Missense_Mutation_p.G172R	p.G255R	NM_001229	NP_001220	P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	6	858	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	255					B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	37	c.763G>A	CCDS158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.587556|4.587556	0.86851|0.86851	.|.	.|.	ENSG00000132906|ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000375874;ENST00000375890;ENST00000447522;ENST00000440484|ENST00000424908	T;T;T;T;T|.	0.21734|.	1.99;1.99;1.99;1.99;3.83|.	5.45|5.45	4.53|4.53	0.55603|0.55603	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.79811|.	0.4510|.	M|M	0.90542|0.90542	3.125|3.125	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.997|.	D|.	0.83443|.	0.0044|.	10|.	0.72032|.	D|.	0.01|.	.|.	12.4941|12.4941	0.55918|0.55918	0.0:0.9157:0.0:0.0843|0.0:0.9157:0.0:0.0843	.|.	255;255|.	P55211;F8VVS7|.	CASP9_HUMAN;.|.	R|X	255;255;99;172;172;225|96	ENSP00000449584:G255R;ENSP00000330237:G255R;ENSP00000365051:G172R;ENSP00000396540:G172R;ENSP00000411304:G225R|.	ENSP00000330237:G255R|.	G|W	-|-	1|2	0|0	CASP9|CASP9	15703798|15703798	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.884000|0.884000	0.51177|0.51177	6.959000|6.959000	0.76031|0.76031	2.541000|2.541000	0.85698|0.85698	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.552	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1		NM_032996		15	63	0	0	0	0.028581	0	15	63		
PTPRF	5792	broad.mit.edu	37	1	44086513	44086513	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:44086513G>A	ENST00000359947.4	+	32	5709	c.5369G>A	c.(5368-5370)gGg>gAg	p.G1790E	PTPRF_ENST00000372414.3_Missense_Mutation_p.G1790E|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.G1781E|PTPRF_ENST00000372413.3_Missense_Mutation_p.G1781E|PTPRF_ENST00000422171.2_Missense_Mutation_p.G1149E	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1790	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCCCAGGATGGGCAGTCAAGG	0.557																																						uc001cjr.2		NaN																	0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(5368-5370)GGG>GAG		protein tyrosine phosphatase, receptor type, F							69.0	60.0	63.0					1																	44086513		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44086513G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5369G>A	1.37:g.44086513G>A	ENSP00000353030:p.Gly1790Glu					PTPRF_uc001cjs.2_Missense_Mutation_p.G1781E|PTPRF_uc001cju.2_Missense_Mutation_p.G1179E|PTPRF_uc009vwt.2_Missense_Mutation_p.G1350E|PTPRF_uc001cjv.2_Missense_Mutation_p.G1261E|PTPRF_uc001cjw.2_Missense_Mutation_p.G1016E	p.G1790E	NM_002840	NP_002831	P10586	PTPRF_HUMAN			32	5709	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1790			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.5369G>A	CCDS489.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	33|33|33	5.220576|5.220576|5.220576	0.95139|0.95139|0.95139	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895|ENST00000412568;ENST00000414879	D;D;D;D;D;D|D|.	0.82344|0.83075|.	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6|-1.68|.	5.13|5.13|5.13	5.13|5.13|5.13	0.70059|0.70059|0.70059	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.66982|0.66982|.	0.2845|0.2845|.	L|L|L	0.41027|0.41027|0.41027	1.25|1.25|1.25	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;P;D;D;D|.|.	0.89917|.|.	0.385;0.918;0.981;1.0;1.0|.|.	B;P;D;D;D|.|.	0.91635|.|.	0.077;0.599;0.919;0.999;0.997|.|.	T|T|.	0.61579|0.61579|.	-0.7034|-0.7034|.	9|7|.	0.35671|0.62326|.	T|D|.	0.21|0.03|.	.|.|.	19.4788|19.4788|19.4788	0.95000|0.95000|0.95000	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	1435;1149;1367;1781;1790|.|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.|.	.;.;.;.;PTPRF_HUMAN|.|.	E|S|X	1790;1781;1790;1781;1149;862|1436|1173;1214	ENSP00000353030:G1790E;ENSP00000398822:G1781E;ENSP00000361491:G1790E;ENSP00000361490:G1781E;ENSP00000387885:G1149E;ENSP00000361484:G862E|ENSP00000408952:G1436S|.	ENSP00000353030:G1790E|ENSP00000408952:G1436S|.	G|G|W	+|+|+	2|1|3	0|0|0	PTPRF|PTPRF|PTPRF	43859100|43859100|43859100	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	9.414000|9.414000|9.414000	0.97362|0.97362|0.97362	2.774000|2.774000|2.774000	0.95407|0.95407|0.95407	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GGG|GGC|TGG		0.557	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1				12	36	0	0	0	0.013537	0	12	36		
CYP4Z1	199974	broad.mit.edu	37	1	47548040	47548040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:47548040G>A	ENST00000334194.3	+	4	402	c.399G>A	c.(397-399)tgG>tgA	p.W133*		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	133						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GTTCTAAATGGAAAAAGCACC	0.458																																						uc001cqu.1		NaN																	0				skin(1)	1						c.(397-399)TGG>TGA		cytochrome P450 4Z1							38.0	37.0	38.0					1																	47548040		2203	4296	6499	SO:0001587	stop_gained	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47548040G>A	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.399G>A	1.37:g.47548040G>A	ENSP00000334246:p.Trp133*						p.W133*	NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN			4	402	+			133			Lumenal (Potential).		Q5VVE4	Nonsense_Mutation	SNP	ENST00000334194.3	37	c.399G>A	CCDS545.1	.	.	.	.	.	.	.	.	.	.	-	32	5.132570	0.94473	.	.	ENSG00000186160	ENST00000334194	.	.	.	2.28	2.28	0.28536	.	0.000000	0.53938	U	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8779	0.52558	0.0:0.0:1.0:0.0	.	.	.	.	X	133	.	ENSP00000334246:W133X	W	+	3	0	CYP4Z1	47320627	1.000000	0.71417	0.107000	0.21349	0.933000	0.57130	5.273000	0.65564	1.330000	0.45394	0.427000	0.28365	TGG		0.458	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1		NM_178134		7	41	0	0	0	0.004482	0	7	41		
LRRC7	57554	broad.mit.edu	37	1	70504189	70504189	+	Silent	SNP	C	C	T	rs191066190	byFrequency	TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:70504189C>T	ENST00000035383.5	+	19	2598	c.2568C>T	c.(2566-2568)acC>acT	p.T856T	LRRC7_ENST00000415775.2_Silent_p.T140T|LRRC7_ENST00000310961.5_Silent_p.T861T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	856						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAGACAGGACCGCTTTTCCTT	0.463													C|||	4	0.000798722	0.0008	0.0029	5008	,	,		18426	0.001		0.0	False		,,,				2504	0.0					uc001dep.2		NaN																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(2566-2568)ACC>ACT		leucine rich repeat containing 7		C		2,4404	4.2+/-10.8	0,2,2201	82.0	90.0	87.0		2568	-6.6	0.9	1		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRRC7	NM_020794.2		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		856/1538	70504189	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504189C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2568C>T	1.37:g.70504189C>T						LRRC7_uc009wbg.2_Silent_p.T140T|LRRC7_uc001deq.2_Silent_p.T97T	p.T856T	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	2598	+			856					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.2568C>T	CCDS645.1																																																																																				0.463	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1		NM_020794		13	154	0	0	0	0.016723	0	13	154		
GBP1	2633	broad.mit.edu	37	1	89523877	89523877	+	Silent	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:89523877G>C	ENST00000370473.4	-	6	891	c.672C>G	c.(670-672)ctC>ctG	p.L224L	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	224	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCCGGATACAGAGTCTGGGCA	0.393																																						uc001dmx.2		NaN																	0				ovary(1)|skin(1)	2						c.(670-672)CTC>CTG		guanylate binding protein 1,							139.0	155.0	150.0					1																	89523877		2203	4300	6503	SO:0001819	synonymous_variant	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89523877G>C	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.672C>G	1.37:g.89523877G>C							p.L224L	NM_002053	NP_002044	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	6	892	-		Lung NSC(277;0.123)	224					D3DT26|Q5T8M1	Silent	SNP	ENST00000370473.4	37	c.672C>G	CCDS718.1																																																																																				0.393	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3		NM_002053		22	395	0	0	0	0.016522	0	22	395		
CELSR2	1952	broad.mit.edu	37	1	109793320	109793320	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:109793320G>C	ENST00000271332.3	+	1	680	c.619G>C	c.(619-621)Gac>Cac	p.D207H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	207	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAGGGCCATCGACCCGGACGA	0.617																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NaN																	0				ovary(4)|lung(3)|skin(1)	8						c.(619-621)GAC>CAC		cadherin EGF LAG seven-pass G-type receptor 2							118.0	102.0	107.0					1																	109793320		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793320G>C	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.619G>C	1.37:g.109793320G>C	ENSP00000271332:p.Asp207His						p.D207H	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	680	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	207			Cadherin 1.|Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.619G>C	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	20.0	3.930585	0.73327	.	.	ENSG00000143126	ENST00000271332	D	0.83163	-1.69	4.99	4.08	0.47627	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.94115	0.8113	H	0.99379	4.54	0.53688	D	0.999979	D	0.89917	1.0	D	0.80764	0.994	D	0.95843	0.8868	9	0.72032	D	0.01	.	13.2585	0.60093	0.0761:0.0:0.9239:0.0	.	207	Q9HCU4	CELR2_HUMAN	H	207	ENSP00000271332:D207H	ENSP00000271332:D207H	D	+	1	0	CELSR2	109594843	1.000000	0.71417	0.761000	0.31378	0.979000	0.70002	9.565000	0.98154	1.351000	0.45789	0.555000	0.69702	GAC		0.617	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1		NM_001408		5	59	0	0	0	0.014758	0	5	59		
GPR89A	653519	broad.mit.edu	37	1	145771648	145771648	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:145771648C>T	ENST00000313835.9	-	11	1135	c.992G>A	c.(991-993)gGa>gAa	p.G331E	GPR89A_ENST00000478703.1_5'UTR|GPR89A_ENST00000534502.1_Missense_Mutation_p.G306E|GPR89A_ENST00000454423.3_Missense_Mutation_p.G211E|GPR89A_ENST00000462900.2_Missense_Mutation_p.G306E			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	331					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			AAATTGGATTCCCAGATAATT	0.343																																						uc001eot.2		NaN																	0					0						c.(991-993)GGA>GAA		G protein-coupled receptor 89A isoform 1							83.0	98.0	93.0					1																	145771648		2203	4287	6490	SO:0001583	missense	653519				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity	g.chr1:145771648C>T	AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.992G>A	1.37:g.145771648C>T	ENSP00000319673:p.Gly331Glu					NBPF10_uc001emp.3_Intron|GPR89A_uc001eop.2_Missense_Mutation_p.G29E|GPR89A_uc001eoq.2_RNA|GPR89A_uc001eor.2_Missense_Mutation_p.G255E|GPR89A_uc010ozb.1_Missense_Mutation_p.G306E|GPR89A_uc001eos.2_Missense_Mutation_p.G211E|GPR89A_uc010ozc.1_Missense_Mutation_p.G306E|GPR89A_uc010ozd.1_Missense_Mutation_p.G278E|GPR89A_uc010oze.1_Missense_Mutation_p.G331E	p.G331E	NM_001097612	NP_001091081	B7ZAQ6	GPHRA_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		11	1166	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		331					A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Missense_Mutation	SNP	ENST00000313835.9	37	c.992G>A	CCDS41377.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370546	0.82573	.	.	ENSG00000117262	ENST00000313835;ENST00000454423;ENST00000534502;ENST00000462900	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.82208	0.4987	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.84334	0.0523	9	0.49607	T	0.09	-13.1529	16.1462	0.81575	0.0:1.0:0.0:0.0	.	331;331	P0CG08;B7ZAQ6	GPHRB_HUMAN;GPHRA_HUMAN	E	331;211;306;306	.	ENSP00000319673:G331E	G	-	2	0	GPR89A	144483005	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.715000	0.84713	2.495000	0.84180	0.305000	0.20034	GGA		0.343	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038507.2		NM_001097612		9	105	0	0	0	0.013537	0	9	105		
RFX5	5993	broad.mit.edu	37	1	151315450	151315450	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:151315450G>T	ENST00000290524.4	-	11	1241	c.1063C>A	c.(1063-1065)Ctt>Att	p.L355I	RFX5_ENST00000368870.2_Missense_Mutation_p.L355I|RFX5_ENST00000452513.2_Missense_Mutation_p.L315I|RFX5_ENST00000452671.2_Missense_Mutation_p.L355I|RFX5_ENST00000478564.1_5'Flank|RP11-126K1.8_ENST00000422153.1_RNA	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	355					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTGAAGAAAGCCTGGGGGCC	0.587																																						uc001exv.1		NaN																	0				ovary(1)	1						c.(1063-1065)CTT>ATT		regulatory factor X, 5							33.0	40.0	37.0					1																	151315450		2200	4299	6499	SO:0001583	missense	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151315450G>T		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1063C>A	1.37:g.151315450G>T	ENSP00000290524:p.Leu355Ile					RFX5_uc001exw.1_Missense_Mutation_p.L355I|RFX5_uc009wmr.1_Missense_Mutation_p.L355I|RFX5_uc010pcx.1_Missense_Mutation_p.L315I	p.L355I	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		11	1277	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		355					B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	37	c.1063C>A	CCDS994.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.236306	0.39498	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.3;0.27	5.0	3.08	0.35506	.	0.282519	0.28504	N	0.015107	T	0.49218	0.1544	L	0.46157	1.445	0.24258	N	0.995299	B;D	0.63880	0.029;0.993	B;D	0.70016	0.013;0.967	T	0.36261	-0.9755	10	0.39692	T	0.17	-6.6646	6.9672	0.24629	0.0892:0.0:0.7384:0.1725	.	315;355	B7Z848;P48382	.;RFX5_HUMAN	I	355;355;355;315;355	ENSP00000290524:L355I;ENSP00000357864:L355I;ENSP00000389130:L355I;ENSP00000398388:L315I;ENSP00000376502:L355I	ENSP00000290524:L355I	L	-	1	0	RFX5	149582074	0.998000	0.40836	0.866000	0.34008	0.625000	0.37756	1.634000	0.37123	0.655000	0.30866	0.591000	0.81541	CTT		0.587	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6		NM_000449		13	60	1	0	3.03607e-14	0.013537	3.38016e-14	13	60		
FLG	2312	broad.mit.edu	37	1	152282251	152282251	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:152282251G>C	ENST00000368799.1	-	3	5146	c.5111C>G	c.(5110-5112)tCt>tGt	p.S1704C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1704	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGACTACAGATGAATCTTG	0.572									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5110-5112)TCT>TGT		filaggrin							245.0	249.0	248.0					1																	152282251		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.chr1:152282251G>C	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.5111C>G	1.37:g.152282251G>C	ENSP00000357789:p.Ser1704Cys						p.S1704C	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5147	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1704			Ser-rich.|Filaggrin 10.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5111C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.004	0.756107	0.15846	.	.	ENSG00000143631	ENST00000368799	T	0.04083	3.71	2.51	-0.85	0.10720	.	.	.	.	.	T	0.05731	0.0150	M	0.66939	2.045	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.23368	-1.0190	9	0.37606	T	0.19	.	4.3855	0.11314	0.0:0.2424:0.4459:0.3116	.	1704	P20930	FILA_HUMAN	C	1704	ENSP00000357789:S1704C	ENSP00000357789:S1704C	S	-	2	0	FLG	150548875	0.001000	0.12720	0.001000	0.08648	0.037000	0.13140	0.578000	0.23773	-0.154000	0.11118	0.306000	0.20318	TCT		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		30	349	0	0	0	0.013114	0	30	349		
NTRK1	4914	broad.mit.edu	37	1	156845927	156845927	+	Silent	SNP	C	C	T	rs564775946		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:156845927C>T	ENST00000524377.1	+	13	1598	c.1557C>T	c.(1555-1557)ggC>ggT	p.G519G	NTRK1_ENST00000368196.3_Silent_p.G513G|NTRK1_ENST00000392302.2_Silent_p.G483G|NTRK1_ENST00000358660.3_Silent_p.G516G	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TGGGGGAGGGCGCCTTTGGGA	0.632			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		16808	0.0		0.0	False		,,,				2504	0.0					uc001fqh.1		NaN		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		0				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(1555-1557)GGC>GGT		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						76.0	76.0	76.0					1																	156845927		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156845927C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1557C>T	1.37:g.156845927C>T		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Silent_p.G483G|NTRK1_uc009wsi.1_Silent_p.G218G|NTRK1_uc001fqi.1_Silent_p.G513G|NTRK1_uc009wsk.1_Silent_p.G516G	p.G519G	NM_002529	NP_002520	P04629	NTRK1_HUMAN			13	1613	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		519			Cytoplasmic (Potential).|ATP (By similarity).|Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.1557C>T	CCDS1161.1																																																																																				0.632	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1		NM_002529		5	69	0	0	0	0.014758	0	5	69		
FCRL5	83416	broad.mit.edu	37	1	157514227	157514227	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:157514227C>T	ENST00000361835.3	-	5	826	c.669G>A	c.(667-669)ccG>ccA	p.P223P	FCRL5_ENST00000368189.3_Silent_p.P223P|FCRL5_ENST00000368191.3_Silent_p.P138P|FCRL5_ENST00000356953.4_Silent_p.P223P|FCRL5_ENST00000368190.3_Silent_p.P223P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	223	Ig-like C2-type 2.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGAACCGGAGCGGGACATCTG	0.567																																						uc001fqu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)	6						c.(667-669)CCG>CCA		Fc receptor-like 5							102.0	108.0	106.0					1																	157514227		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514227C>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.669G>A	1.37:g.157514227C>T						FCRL5_uc009wsm.2_Silent_p.P223P|FCRL5_uc010phv.1_Silent_p.P223P|FCRL5_uc010phw.1_Silent_p.P138P|FCRL5_uc001fqv.1_Silent_p.P223P|FCRL5_uc010phx.1_5'UTR	p.P223P	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			5	827	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	223			Extracellular (Potential).|Ig-like C2-type 2.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.669G>A	CCDS1165.1																																																																																				0.567	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1		NM_031281		19	114	0	0	0	0.008871	0	19	114		
OR10R2	343406	broad.mit.edu	37	1	158449927	158449927	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:158449927C>G	ENST00000368152.1	+	1	260	c.260C>G	c.(259-261)tCa>tGa	p.S87*	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S87L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGCATTCTCTCAACATCTGAG	0.433																																						uc010pik.1		NaN																	1	Substitution - Missense(1)		endometrium(1)	pancreas(2)|skin(1)	3						c.(259-261)TCA>TGA		olfactory receptor, family 10, subfamily R,							292.0	248.0	263.0					1																	158449927		2203	4300	6503	SO:0001587	stop_gained	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158449927C>G	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.260C>G	1.37:g.158449927C>G	ENSP00000357134:p.Ser87*					uc001fso.1_RNA	p.S87*	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	260	+	all_hematologic(112;0.0378)		87			Helical; Name=2; (Potential).		Q5VWM8|Q6IFS1|Q96R61	Nonsense_Mutation	SNP	ENST00000368152.1	37	c.260C>G	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	c	17.23	3.337098	0.60963	.	.	ENSG00000198965	ENST00000368152	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.6427	0.77020	0.0:1.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000357134:S87X	S	+	2	0	OR10R2	156716551	0.016000	0.18221	0.404000	0.26397	0.810000	0.45777	2.622000	0.46427	2.170000	0.68504	0.655000	0.94253	TCA		0.433	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2		NM_001004472		27	172	0	0	0	0.024334	0	27	172		
RCOR3	55758	broad.mit.edu	37	1	211433478	211433478	+	Nonsense_Mutation	SNP	C	C	A	rs145681038		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:211433478C>A	ENST00000367005.4	+	1	162	c.21C>A	c.(19-21)taC>taA	p.Y7*	RCOR3_ENST00000452621.2_Nonsense_Mutation_p.Y65*|RCOR3_ENST00000367006.4_Nonsense_Mutation_p.Y65*|RCOR3_ENST00000419091.2_Nonsense_Mutation_p.Y65*	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	7	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GAGCCGAATACCAAGCTCGGA	0.403																																						uc001hig.2		NaN																	0				ovary(1)	1						c.(19-21)TAC>TAA		REST corepressor 3 isoform d							81.0	81.0	81.0					1																	211433478		2203	4300	6503	SO:0001587	stop_gained	55758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr1:211433478C>A	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.21C>A	1.37:g.211433478C>A	ENSP00000355972:p.Tyr7*					RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Nonsense_Mutation_p.Y65*|RCOR3_uc010psw.1_Nonsense_Mutation_p.Y65*|RCOR3_uc001hif.2_Nonsense_Mutation_p.Y65*	p.Y7*	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)	1	190	+			7			ELM2.		B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Nonsense_Mutation	SNP	ENST00000367005.4	37	c.21C>A	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	C	37	6.465058	0.97590	.	.	ENSG00000117625	ENST00000534478;ENST00000533469;ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005	.	.	.	4.78	2.9	0.33743	.	0.293959	0.33419	N	0.004925	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0324	7.6073	0.28110	0.0:0.7303:0.0:0.2697	.	.	.	.	X	7;7;65;65;65;7	.	ENSP00000355972:Y7X	Y	+	3	2	RCOR3	209500101	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.747000	0.26290	1.005000	0.39183	0.467000	0.42956	TAC		0.403	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1		NM_018254		25	27	1	0	9.39395e-14	0.00632	1.03893e-13	25	27		
OR2L3	391192	broad.mit.edu	37	1	248224518	248224518	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:248224518G>A	ENST00000359959.3	+	1	535	c.535G>A	c.(535-537)Gat>Aat	p.D179N	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTCTTCTGTGATGTCCCAGC	0.478																																						uc001idx.1		NaN																	0					0						c.(535-537)GAT>AAT		olfactory receptor, family 2, subfamily L,							110.0	141.0	131.0					1																	248224518		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224518G>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.535G>A	1.37:g.248224518G>A	ENSP00000353044:p.Asp179Asn					OR2L13_uc001ids.2_Intron	p.D179N	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	535	+	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)		179			Extracellular (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.535G>A	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	13.16	2.153058	0.38021	.	.	ENSG00000198128	ENST00000359959	T	0.00188	8.59	2.05	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34133	U	0.004227	T	0.00300	0.0009	M	0.87758	2.905	0.32274	N	0.568429	B	0.23540	0.087	B	0.33799	0.17	T	0.06391	-1.0829	10	0.66056	D	0.02	.	8.2158	0.31509	0.133:0.0:0.867:0.0	.	179	Q8NG85	OR2L3_HUMAN	N	179	ENSP00000353044:D179N	ENSP00000353044:D179N	D	+	1	0	OR2L3	246291141	1.000000	0.71417	0.074000	0.20217	0.026000	0.11368	6.885000	0.75606	0.175000	0.19841	0.462000	0.41574	GAT		0.478	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1		NM_001004687		30	135	0	0	0	0.008361	0	30	135		
OR2T10	127069	broad.mit.edu	37	1	248756267	248756267	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:248756267G>A	ENST00000330500.2	-	1	833	c.803C>T	c.(802-804)cCt>cTt	p.P268L	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(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)			ATCTTTCTCAGGAGTTTGGTA	0.438																																						uc010pzn.1		NaN																	0				skin(1)	1						c.(802-804)CCT>CTT		olfactory receptor, family 2, subfamily T,							57.0	63.0	61.0					1																	248756267		2045	4233	6278	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756267G>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.803C>T	1.37:g.248756267G>A	ENSP00000329210:p.Pro268Leu						p.P268L	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	803	-	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)		268			Extracellular (Potential).		B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.803C>T	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	1.923	-0.447817	0.04572	.	.	ENSG00000184022	ENST00000330500	T	0.00207	8.55	2.35	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.39898	1.24	0.09310	N	1	B	0.24092	0.097	B	0.30105	0.111	T	0.27839	-1.0062	9	0.66056	D	0.02	.	4.7548	0.13078	0.446:0.0:0.554:0.0	.	268	Q8NGZ9	O2T10_HUMAN	L	268	ENSP00000329210:P268L	ENSP00000329210:P268L	P	-	2	0	OR2T10	246822890	0.000000	0.05858	0.864000	0.33941	0.024000	0.10985	-1.497000	0.02289	1.123000	0.41961	0.447000	0.29281	CCT		0.438	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1		NM_001004693		10	53	0	0	0	0.008291	0	10	53		
ADARB2	105	broad.mit.edu	37	10	1405298	1405298	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr10:1405298G>A	ENST00000381312.1	-	3	1327	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	334	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCTGCAGTGCGGCCTGCGCGG	0.746																																						uc009xhq.2		NaN																	0				large_intestine(2)|central_nervous_system(1)	3						c.(1000-1002)GCC>GCT		adenosine deaminase, RNA-specific, B2							7.0	8.0	7.0					10																	1405298		2100	4148	6248	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405298G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1002C>T	10.37:g.1405298G>A							p.A334A	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	1376	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	334			DRBM 2.		B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.1002C>T	CCDS7058.1																																																																																				0.746	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1		NM_018702		3	9	0	0	0	0.009096	0	3	9		
SVIL	6840	broad.mit.edu	37	10	29821479	29821479	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr10:29821479T>A	ENST00000355867.4	-	8	2569	c.1817A>T	c.(1816-1818)aAc>aTc	p.N606I	SVIL_ENST00000375398.2_Missense_Mutation_p.N606I|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	606					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCTGCAGGCGTTGGCAGATGC	0.577																																						uc001iut.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(1816-1818)AAC>ATC		supervillin isoform 2							69.0	54.0	59.0					10																	29821479		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29821479T>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1817A>T	10.37:g.29821479T>A	ENSP00000348128:p.Asn606Ile					SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.N606I	p.N606I	NM_021738	NP_068506	O95425	SVIL_HUMAN			8	2570	-		Breast(68;0.103)	606					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.1817A>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801624	0.31869	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.22743	1.94;1.94	5.65	-3.1	0.05315	.	0.800897	0.11520	N	0.555803	T	0.16385	0.0394	L	0.43152	1.355	0.09310	N	1	P	0.38642	0.641	B	0.36030	0.216	T	0.15694	-1.0428	9	.	.	.	0.001	13.1821	0.59660	0.0:0.3101:0.0:0.6899	.	606	O95425	SVIL_HUMAN	I	606	ENSP00000364547:N606I;ENSP00000348128:N606I	.	N	-	2	0	SVIL	29861485	0.004000	0.15560	0.000000	0.03702	0.361000	0.29550	-0.546000	0.06062	-0.330000	0.08514	0.533000	0.62120	AAC		0.577	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1				8	27	0	0	0	0.00308	0	8	27		
ATRNL1	26033	broad.mit.edu	37	10	117228809	117228809	+	Silent	SNP	C	C	T	rs564438918		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr10:117228809C>T	ENST00000355044.3	+	24	3750	c.3624C>T	c.(3622-3624)gtC>gtT	p.V1208V	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Silent_p.V259V	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1208					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATGTGTACGTCAGCAACTTTT	0.294													C|||	1	0.000199681	0.0	0.0	5008	,	,		13453	0.0		0.0	False		,,,				2504	0.001					uc001lcg.2		NaN																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3622-3624)GTC>GTT		attractin-like 1 precursor							61.0	65.0	64.0					10																	117228809		2196	4283	6479	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117228809C>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3624C>T	10.37:g.117228809C>T						ATRNL1_uc010qsm.1_Silent_p.V337V|ATRNL1_uc010qsn.1_Intron	p.V1208V	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	24	4010	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1208			Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.3624C>T	CCDS7592.1																																																																																				0.294	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3		XM_049349		9	67	0	0	0	0.004482	0	9	67		
LDHC	3948	broad.mit.edu	37	11	18460094	18460094	+	Silent	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:18460094G>C	ENST00000541669.1	+	6	723	c.612G>C	c.(610-612)gtG>gtC	p.V204V	LDHC_ENST00000544105.1_Silent_p.V204V|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000546146.1_Silent_p.V146V|LDHC_ENST00000280704.4_Silent_p.V204V|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000536880.1_Silent_p.V190V			P07864	LDHC_HUMAN	lactate dehydrogenase C	204					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGAGTGGGGTGAATGTTGCTG	0.373																																						uc001mon.3		NaN																	0					0						c.(610-612)GTG>GTC		L-lactate dehydrogenase C	NADH(DB00157)						175.0	159.0	165.0					11																	18460094		2199	4293	6492	SO:0001819	synonymous_variant	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18460094G>C	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.612G>C	11.37:g.18460094G>C						LDHC_uc001mom.3_Silent_p.V204V|LDHC_uc009yhp.2_Silent_p.V204V|LDHC_uc001moo.3_Silent_p.V88V|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Intron	p.V204V	NM_017448	NP_059144	P07864	LDHC_HUMAN			6	724	+			204					D3DQY4|Q6GSG8|Q7Z7J4	Silent	SNP	ENST00000541669.1	37	c.612G>C	CCDS7840.1																																																																																				0.373	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1		NM_017448		12	74	0	0	0	0.013537	0	12	74		
MUC15	143662	broad.mit.edu	37	11	26587103	26587103	+	Silent	SNP	T	T	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:26587103T>C	ENST00000455601.2	-	2	421	c.303A>G	c.(301-303)aaA>aaG	p.K101K	MUC15_ENST00000281268.8_Silent_p.K128K|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Silent_p.K128K|MUC15_ENST00000527569.1_Silent_p.K128K|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000436318.2_Silent_p.K128K	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	101					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TAGATGTGGGTTTTAGACTGC	0.453																																						uc001mqx.2		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(301-303)AAA>AAG		mucin 15 isoform b							176.0	158.0	164.0					11																	26587103		2203	4300	6503	SO:0001819	synonymous_variant	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26587103T>C	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.303A>G	11.37:g.26587103T>C						ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.K128K|MUC15_uc001mqy.2_Silent_p.K128K	p.K101K	NM_145650	NP_663625	Q8N387	MUC15_HUMAN			2	569	-			101			Extracellular (Potential).		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Silent	SNP	ENST00000455601.2	37	c.303A>G	CCDS7859.1																																																																																				0.453	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1		NM_145650		20	89	0	0	0	0.008871	0	20	89		
CKAP5	9793	broad.mit.edu	37	11	46786765	46786765	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:46786765C>T	ENST00000529230.1	-	28	3499	c.3453G>A	c.(3451-3453)aaG>aaA	p.K1151K	SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000312055.5_Silent_p.K1151K|CKAP5_ENST00000415402.1_Silent_p.K1151K|CKAP5_ENST00000354558.3_Silent_p.K1151K			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1151					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CTTCATCCTCCTTTAAGCTGG	0.398																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NaN																	0				ovary(1)|skin(1)	2						c.(3451-3453)AAG>AAA		colonic and hepatic tumor over-expressed protein							202.0	181.0	188.0					11																	46786765		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46786765C>T		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3453G>A	11.37:g.46786765C>T						CKAP5_uc009ylg.1_Silent_p.K1037K|CKAP5_uc001ndj.1_Silent_p.K1151K|CKAP5_uc001ndh.1_Silent_p.K80K|SNORD67_uc001ndk.2_5'Flank	p.K1151K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			28	3563	-			1151					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.3453G>A	CCDS31477.1																																																																																				0.398	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1		NM_014756		27	81	0	0	0	0.024334	0	27	81		
OMP	4975	broad.mit.edu	37	11	76814355	76814355	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:76814355C>T	ENST00000529803.1	+	1	470	c.470C>T	c.(469-471)tCc>tTc	p.S157F	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	157					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CTCAAGGCCTCCGTGGTTTTT	0.602																																						uc010rsk.1		NaN																	0					0						c.(469-471)TCC>TTC		olfactory marker protein							56.0	62.0	60.0					11																	76814355		1977	4140	6117	SO:0001583	missense	4975				sensory perception of smell|synaptic transmission			g.chr11:76814355C>T	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.470C>T	11.37:g.76814355C>T	ENSP00000436376:p.Ser157Phe					CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	p.S157F	NM_006189	NP_006180	P47874	OMP_HUMAN			1	470	+			157					Q562G2	Missense_Mutation	SNP	ENST00000529803.1	37	c.470C>T	CCDS53682.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871672	0.72065	.	.	ENSG00000254550	ENST00000529803	T	0.42513	0.97	5.18	5.18	0.71444	.	.	.	.	.	T	0.53850	0.1822	L	0.29908	0.895	0.51482	D	0.999922	D	0.62365	0.991	D	0.71184	0.972	T	0.56920	-0.7899	9	0.87932	D	0	.	17.8548	0.88759	0.0:1.0:0.0:0.0	.	157	P47874	OMP_HUMAN	F	157	ENSP00000436376:S157F	ENSP00000436376:S157F	S	+	2	0	OMP	76492003	1.000000	0.71417	0.577000	0.28562	0.631000	0.37964	6.902000	0.75699	2.700000	0.92200	0.462000	0.41574	TCC		0.602	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1		NM_006189		11	76	0	0	0	0.013537	0	11	76		
NOX4	50507	broad.mit.edu	37	11	89133385	89133385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:89133385G>A	ENST00000263317.4	-	10	1247	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*	NOX4_ENST00000527956.1_Nonsense_Mutation_p.Q313*|NOX4_ENST00000542487.1_Nonsense_Mutation_p.Q313*|NOX4_ENST00000534731.1_Nonsense_Mutation_p.Q337*|NOX4_ENST00000413594.2_Nonsense_Mutation_p.Q358*|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527626.1_Nonsense_Mutation_p.Q171*|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000343727.5_Nonsense_Mutation_p.Q313*|NOX4_ENST00000535633.1_Nonsense_Mutation_p.Q313*|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000528341.1_Nonsense_Mutation_p.Q312*|NOX4_ENST00000424319.1_Nonsense_Mutation_p.Q313*|NOX4_ENST00000532825.1_Nonsense_Mutation_p.Q313*			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	337	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TGACTCACCTGACCAGGTCTT	0.373																																						uc001pct.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1009-1011)CAG>TAG		NADPH oxidase 4 isoform a							85.0	84.0	84.0					11																	89133385		2201	4299	6500	SO:0001587	stop_gained	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89133385G>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1009C>T	11.37:g.89133385G>A	ENSP00000263317:p.Gln337*					NOX4_uc009yvr.2_Nonsense_Mutation_p.Q312*|NOX4_uc001pcu.2_Nonsense_Mutation_p.Q263*|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Nonsense_Mutation_p.Q337*|NOX4_uc009yvo.2_Intron|NOX4_uc010rtu.1_Nonsense_Mutation_p.Q171*|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Nonsense_Mutation_p.Q313*|NOX4_uc009yvq.2_Nonsense_Mutation_p.Q313*	p.Q337*	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			10	1248	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	337			FAD-binding FR-type.|Extracellular (Potential).|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Nonsense_Mutation	SNP	ENST00000263317.4	37	c.1009C>T	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	G	38	7.039569	0.98021	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	.	.	.	5.58	4.68	0.58851	.	0.060256	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.3169	14.7091	0.69215	0.0696:0.0:0.9304:0.0	.	.	.	.	X	313;313;313;337;337;313;313;313;171;312;358	.	.	Q	-	1	0	NOX4	88773033	1.000000	0.71417	0.998000	0.56505	0.812000	0.45895	9.190000	0.94934	1.388000	0.46506	-0.215000	0.12644	CAG		0.373	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1		NM_016931		9	98	0	0	0	0.006214	0	9	98		
DSCAML1	57453	broad.mit.edu	37	11	117303215	117303215	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:117303215C>T	ENST00000321322.6	-	30	5213	c.5212G>A	c.(5212-5214)Gac>Aac	p.D1738N	DSCAML1_ENST00000527706.1_Missense_Mutation_p.D1468N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1678					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGGCCTTGTCATCTCCTGGG	0.463																																						uc001prh.1		NaN																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(5212-5214)GAC>AAC		Down syndrome cell adhesion molecule like 1							168.0	136.0	147.0					11																	117303215		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117303215C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5212G>A	11.37:g.117303215C>T	ENSP00000315465:p.Asp1738Asn						p.D1738N	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	30	5214	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1678			Cytoplasmic (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5212G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539021	0.96474	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.67523	-0.22;-0.27	5.54	5.54	0.83059	.	.	.	.	.	T	0.65964	0.2742	N	0.19112	0.55	0.80722	D	1	D	0.54964	0.969	P	0.53224	0.721	T	0.68492	-0.5394	9	0.49607	T	0.09	.	19.0778	0.93169	0.0:1.0:0.0:0.0	.	1678	Q8TD84	DSCL1_HUMAN	N	1468;1738;1445	ENSP00000434335:D1468N;ENSP00000315465:D1738N	ENSP00000315465:D1738N	D	-	1	0	DSCAML1	116808425	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.703000	0.84585	2.595000	0.87683	0.591000	0.81541	GAC		0.463	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		NM_020693		7	72	0	0	0	0.001984	0	7	72		
MFRP	83552	broad.mit.edu	37	11	119216184	119216184	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:119216184G>T	ENST00000530681.1	-	5	731	c.587C>A	c.(586-588)tCt>tAt	p.S196Y	MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.S196Y|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.S196Y|MFRP_ENST00000449574.2_Missense_Mutation_p.S196Y	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	196	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AAAAAGGCAAGAGGCCACACT	0.582																																						uc001pwj.2		NaN																	0					0						c.(586-588)TCT>TAT		membrane frizzled-related protein							66.0	65.0	66.0					11																	119216184		2199	4295	6494	SO:0001583	missense	83552					collagen		g.chr11:119216184G>T	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.587C>A	11.37:g.119216184G>T	ENSP00000456533:p.Ser196Tyr					MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.S196Y	p.S196Y	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	5	747	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Error:Variant_position_missing_in_Q9BXJ0_after_alignment					B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.587C>A	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449940	0.63290	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.19394	2.15;2.15;2.15	4.15	4.15	0.48705	CUB (5);	0.525914	0.20422	N	0.092650	T	0.30823	0.0777	L	0.28649	0.875	0.29238	N	0.872805	D;D	0.71674	0.998;0.996	D;D	0.66196	0.942;0.942	T	0.03750	-1.1007	10	0.45353	T	0.12	-19.6343	12.8488	0.57846	0.0:0.164:0.836:0.0	.	196;196	B4DHN8;Q9BY79	.;MFRP_HUMAN	Y	196	ENSP00000450509:S196Y;ENSP00000391664:S196Y;ENSP00000353291:S196Y	ENSP00000353291:S196Y	S	-	2	0	MFRP	118721394	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	3.861000	0.56002	2.312000	0.78011	0.561000	0.74099	TCT		0.582	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1		NM_031433		4	45	1	0	3.59834e-05	0.021553	3.66416e-05	4	45		
MFRP	83552	broad.mit.edu	37	11	119216325	119216325	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:119216325G>C	ENST00000530681.1	-	5	590	c.446C>G	c.(445-447)tCt>tGt	p.S149C	MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.S149C|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.S149C|MFRP_ENST00000449574.2_Missense_Mutation_p.S149C	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	149	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CCTTGGGCCAGAGAGGAGGCC	0.567																																						uc001pwj.2		NaN																	0					0						c.(445-447)TCT>TGT		membrane frizzled-related protein							33.0	33.0	33.0					11																	119216325		2199	4295	6494	SO:0001583	missense	83552					collagen		g.chr11:119216325G>C	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.446C>G	11.37:g.119216325G>C	ENSP00000456533:p.Ser149Cys					MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.S149C	p.S149C	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	5	606	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.446C>G	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274520	0.40194	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.18810	2.19;2.19;2.19	4.0	0.976	0.19727	CUB (5);	0.773311	0.11985	N	0.510363	T	0.31918	0.0812	M	0.83692	2.655	0.09310	N	1	P;P	0.52061	0.924;0.95	P;P	0.50754	0.649;0.643	T	0.17471	-1.0368	10	0.54805	T	0.06	-0.0141	3.3673	0.07208	0.3229:0.0:0.3636:0.3135	.	149;149	B4DHN8;Q9BY79	.;MFRP_HUMAN	C	149	ENSP00000450509:S149C;ENSP00000391664:S149C;ENSP00000353291:S149C	ENSP00000353291:S149C	S	-	2	0	MFRP	118721535	0.000000	0.05858	0.936000	0.37596	0.977000	0.68977	-0.214000	0.09292	0.417000	0.25871	-0.258000	0.10820	TCT		0.567	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1		NM_031433		7	29	0	0	0	0.001984	0	7	29		
MFRP	83552	broad.mit.edu	37	11	119216543	119216543	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:119216543G>C	ENST00000530681.1	-	4	511	c.367C>G	c.(367-369)Cag>Gag	p.Q123E	MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.Q123E|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.Q123E|MFRP_ENST00000449574.2_Missense_Mutation_p.Q123E	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	123					embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CCAGCTGCCTGAGAggtggtg	0.662																																						uc001pwj.2		NaN																	0					0						c.(367-369)CAG>GAG		membrane frizzled-related protein							50.0	55.0	54.0					11																	119216543		2198	4295	6493	SO:0001583	missense	83552					collagen		g.chr11:119216543G>C	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.367C>G	11.37:g.119216543G>C	ENSP00000456533:p.Gln123Glu					MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.Q123E	p.Q123E	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	4	527	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	44			Collagen-like.		B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.367C>G	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	G	6.504	0.461221	0.12342	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.66280	-0.2;-0.2;1.93	3.62	0.66	0.17868	.	1.361140	0.04765	N	0.427106	T	0.38585	0.1046	N	0.19112	0.55	0.09310	N	1	B;B	0.30584	0.286;0.002	B;B	0.24848	0.056;0.002	T	0.19549	-1.0302	10	0.02654	T	1	1.116	4.7591	0.13099	0.211:0.3812:0.4077:0.0	.	123;123	B4DHN8;Q9BY79	.;MFRP_HUMAN	E	123	ENSP00000450509:Q123E;ENSP00000391664:Q123E;ENSP00000353291:Q123E	ENSP00000353291:Q123E	Q	-	1	0	MFRP	118721753	0.747000	0.28283	0.000000	0.03702	0.145000	0.21501	1.732000	0.38146	0.144000	0.18951	0.561000	0.74099	CAG		0.662	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1		NM_031433		10	60	0	0	0	0.008291	0	10	60		
VWF	7450	broad.mit.edu	37	12	6078422	6078422	+	Nonsense_Mutation	SNP	G	G	A	rs61751300		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:6078422G>A	ENST00000261405.5	-	45	7938	c.7684C>T	c.(7684-7686)Cag>Tag	p.Q2562*		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2562					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGCTCAGCTGAAAGCCCGAG	0.592																																						uc001qnn.1		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(7684-7686)CAG>TAG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						35.0	34.0	35.0					12																	6078422		2203	4300	6503	SO:0001587	stop_gained	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6078422G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7684C>T	12.37:g.6078422G>A	ENSP00000261405:p.Gln2562*					VWF_uc010set.1_Intron	p.Q2562*	NM_000552	NP_000543	P04275	VWF_HUMAN			45	7934	-			2562					Q8TCE8|Q99806	Nonsense_Mutation	SNP	ENST00000261405.5	37	c.7684C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	48	14.803820	0.99810	.	.	ENSG00000110799	ENST00000261405	.	.	.	4.87	4.87	0.63330	.	0.000000	0.42172	D	0.000759	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	11.2581	0.49067	0.0:0.1845:0.8155:0.0	.	.	.	.	X	2562	.	ENSP00000261405:Q2562X	Q	-	1	0	VWF	5948683	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	5.089000	0.64492	2.530000	0.85305	0.561000	0.74099	CAG		0.592	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		NM_000552		7	23	0	0	0	0.001984	0	7	23		
VWF	7450	broad.mit.edu	37	12	6078430	6078430	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:6078430G>A	ENST00000261405.5	-	45	7930	c.7676C>T	c.(7675-7677)tCg>tTg	p.S2559L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2559					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.S2559L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGAAAGCCCGAGGGGCAGAC	0.592																																						uc001qnn.1		NaN																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(7675-7677)TCG>TTG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						38.0	37.0	37.0					12																	6078430		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6078430G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7676C>T	12.37:g.6078430G>A	ENSP00000261405:p.Ser2559Leu					VWF_uc010set.1_Intron	p.S2559L	NM_000552	NP_000543	P04275	VWF_HUMAN			45	7926	-			2559					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.7676C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	0.117	-1.130348	0.01756	.	.	ENSG00000110799	ENST00000261405	T	0.36878	1.23	4.87	-5.23	0.02798	.	2.276390	0.01853	N	0.036089	T	0.10637	0.0260	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33343	-0.9872	10	0.10377	T	0.69	.	10.4912	0.44752	0.72:0.1164:0.1637:0.0	.	2559	P04275	VWF_HUMAN	L	2559	ENSP00000261405:S2559L	ENSP00000261405:S2559L	S	-	2	0	VWF	5948691	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-1.528000	0.02225	-0.988000	0.03489	-1.193000	0.01689	TCG		0.592	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		NM_000552		9	25	0	0	0	0.006214	0	9	25		
STRAP	11171	broad.mit.edu	37	12	16052918	16052918	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:16052918G>A	ENST00000419869.2	+	8	1169	c.856G>A	c.(856-858)Gat>Aat	p.D286N	STRAP_ENST00000538352.1_Missense_Mutation_p.D192N|STRAP_ENST00000025399.6_Missense_Mutation_p.D299N	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	286					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TGGTTCAGAAGATGGAACATT	0.388																																						uc001rdc.3		NaN																	0				skin(1)	1						c.(856-858)GAT>AAT		serine/threonine kinase receptor associated							115.0	112.0	113.0					12																	16052918		2203	4300	6503	SO:0001583	missense	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16052918G>A	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.856G>A	12.37:g.16052918G>A	ENSP00000392270:p.Asp286Asn					STRAP_uc010shw.1_Missense_Mutation_p.D299N|STRAP_uc001rdd.3_Missense_Mutation_p.D192N	p.D286N	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN			8	1210	+		Hepatocellular(102;0.121)	286			WD 7.		B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	ENST00000419869.2	37	c.856G>A	CCDS8676.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.788476|4.788476	0.90367|0.90367	.|.	.|.	ENSG00000023734|ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869|ENST00000538718	D;D;D|.	0.88975|.	-2.45;-2.45;-2.45|.	4.76|4.76	3.87|3.87	0.44632|0.44632	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80675|0.80675	0.4668|0.4668	M|M	0.90922|0.90922	3.16|3.16	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.85010|0.85010	0.0905|0.0905	10|5	0.87932|.	D|.	0|.	-17.5316|-17.5316	13.6082|13.6082	0.62061|0.62061	0.0753:0.0:0.9247:0.0|0.0753:0.0:0.9247:0.0	.|.	299;286|.	B4DNJ6;Q9Y3F4|.	.;STRAP_HUMAN|.	N|K	192;299;286|52	ENSP00000439761:D192N;ENSP00000025399:D299N;ENSP00000392270:D286N|.	ENSP00000025399:D299N|.	D|R	+|+	1|2	0|0	STRAP|STRAP	15944185|15944185	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.146000|9.146000	0.94640|0.94640	1.383000|1.383000	0.46405|0.46405	0.650000|0.650000	0.86243|0.86243	GAT|AGA		0.388	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1		NM_007178		18	82	0	0	0	0.008871	0	18	82		
PRICKLE1	144165	broad.mit.edu	37	12	42853914	42853914	+	Nonsense_Mutation	SNP	G	G	T	rs137985321		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:42853914G>T	ENST00000455697.1	-	8	2478	c.2193C>A	c.(2191-2193)taC>taA	p.Y731*	PRICKLE1_ENST00000445766.2_Nonsense_Mutation_p.Y731*|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Nonsense_Mutation_p.Y731*|PRICKLE1_ENST00000552240.1_Nonsense_Mutation_p.Y731*|PRICKLE1_ENST00000548696.1_Nonsense_Mutation_p.Y731*	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	731					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CGTACTGTCCGTAGAGATCAG	0.493																																						uc010skv.1		NaN																	0				ovary(3)|skin(1)	4						c.(2191-2193)TAC>TAA		prickle homolog 1							121.0	120.0	121.0					12																	42853914		2203	4300	6503	SO:0001587	stop_gained	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42853914G>T	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2193C>A	12.37:g.42853914G>T	ENSP00000401060:p.Tyr731*					PRICKLE1_uc001rnl.2_Nonsense_Mutation_p.Y731*|PRICKLE1_uc010skw.1_Nonsense_Mutation_p.Y731*|PRICKLE1_uc001rnm.2_Nonsense_Mutation_p.Y731*|PRICKLE1_uc001rnk.1_5'Flank	p.Y731*	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2480	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		731					Q14C83|Q71QF8|Q96N00	Nonsense_Mutation	SNP	ENST00000455697.1	37	c.2193C>A	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	G	36	5.680772	0.96774	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	.	.	.	5.34	-9.29	0.00653	.	0.153086	0.44902	D	0.000417	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.586	20.084	0.97794	0.3492:0.0:0.6508:0.0	.	.	.	.	X	731	.	ENSP00000345064:Y731X	Y	-	3	2	PRICKLE1	41140181	0.000000	0.05858	0.003000	0.11579	0.864000	0.49448	-2.353000	0.01090	-1.905000	0.01090	-0.946000	0.02672	TAC		0.493	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1				17	83	1	0	1.5739e-10	0.028581	1.70676e-10	17	83		
KMT2D	8085	broad.mit.edu	37	12	49444391	49444391	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:49444391C>A	ENST00000301067.7	-	11	2979	c.2980G>T	c.(2980-2982)Gag>Tag	p.E994*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	994	Pro-rich.				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)										GGGACAGGCTCAGGGTCAGTG	0.622																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(2980-2982)GAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							51.0	63.0	59.0					12																	49444391		2037	4187	6224	SO:0001587	stop_gained	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.chr12:49444391C>A	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.2980G>T	12.37:g.49444391C>A	ENSP00000301067:p.Glu994*	HNSCC(34;0.089)					p.E994*	NM_003482	NP_003473	O14686	MLL2_HUMAN			11	2980	-			994			Pro-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.2980G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	39	7.575647	0.98368	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.59	4.59	0.56863	.	0.229124	0.22532	N	0.058821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.9041	0.70703	0.0:1.0:0.0:0.0	.	.	.	.	X	994	.	ENSP00000301067:E994X	E	-	1	0	MLL2	47730658	0.991000	0.36638	1.000000	0.80357	0.909000	0.53808	2.075000	0.41538	2.092000	0.63282	0.563000	0.77884	GAG		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				6	35	1	0	5.9392e-07	0.021553	6.19904e-07	6	35		
KMT2D	8085	broad.mit.edu	37	12	49445170	49445170	+	Missense_Mutation	SNP	C	C	T	rs375538882		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:49445170C>T	ENST00000301067.7	-	10	2295	c.2296G>A	c.(2296-2298)Gag>Aag	p.E766K		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	766	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	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)										TGTGGCTCCTCAGCCTGCGGA	0.697																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(2296-2298)GAG>AAG		myeloid/lymphoid or mixed-lineage leukemia 2							16.0	18.0	17.0					12																	49445170		1806	3874	5680	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.chr12:49445170C>T	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.2296G>A	12.37:g.49445170C>T	ENSP00000301067:p.Glu766Lys	HNSCC(34;0.089)					p.E766K	NM_003482	NP_003473	O14686	MLL2_HUMAN			10	2296	-			766	Missing (in Ref. 1; AAC51734).		Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.2296G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873729	0.51695	.	.	ENSG00000167548	ENST00000301067	T	0.38240	1.15	3.68	1.82	0.25136	.	.	.	.	.	T	0.22742	0.0549	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23261	-1.0193	9	0.87932	D	0	.	4.0607	0.09837	0.0:0.5621:0.2172:0.2207	.	766	O14686	MLL2_HUMAN	K	766	ENSP00000301067:E766K	ENSP00000301067:E766K	E	-	1	0	MLL2	47731437	0.000000	0.05858	0.722000	0.30670	0.265000	0.26407	-0.300000	0.08243	0.518000	0.28383	0.563000	0.77884	GAG		0.697	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				5	39	0	0	0	0.014758	0	5	39		
ITGA7	3679	broad.mit.edu	37	12	56086673	56086673	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:56086673G>A	ENST00000555728.1	-	22	2959	c.2931C>T	c.(2929-2931)tcC>tcT	p.S977S	ITGA7_ENST00000452168.2_Silent_p.S840S|ITGA7_ENST00000257879.6_Silent_p.S933S|ITGA7_ENST00000553804.1_Silent_p.S937S|ITGA7_ENST00000394230.2_Silent_p.S937S|ITGA7_ENST00000394229.2_Silent_p.S933S|ITGA7_ENST00000347027.6_Silent_p.S927S|ITGA7_ENST00000257880.7_Silent_p.S977S			Q13683	ITA7_HUMAN	integrin, alpha 7	977					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTGGCCACCAGGACATGCTGG	0.642																																						uc001shh.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(2809-2811)TCC>TCT		integrin alpha 7 isoform 1 precursor							41.0	38.0	39.0					12																	56086673		2203	4300	6503	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56086673G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2931C>T	12.37:g.56086673G>A						ITGA7_uc001shg.2_Silent_p.S933S|ITGA7_uc010sps.1_Silent_p.S840S|ITGA7_uc009znw.2_Silent_p.S180S|ITGA7_uc009znx.2_Silent_p.S814S	p.S937S	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			21	3031	-			977			Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.2811C>T																																																																																					0.642	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1		NM_002206		4	24	0	0	0	0.009096	0	4	24		
TRHDE	29953	broad.mit.edu	37	12	73046848	73046848	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:73046848G>A	ENST00000261180.4	+	17	2857	c.2761G>A	c.(2761-2763)Gat>Aat	p.D921N		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	921					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGATGCAATTGATGTCATAAT	0.353																																						uc001sxa.2		NaN																	0				ovary(2)|skin(1)	3						c.(2761-2763)GAT>AAT		thyrotropin-releasing hormone degrading enzyme							89.0	87.0	88.0					12																	73046848		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73046848G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2761G>A	12.37:g.73046848G>A	ENSP00000261180:p.Asp921Asn						p.D921N	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			17	2791	+			921			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2761G>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531821	0.64972	.	.	ENSG00000072657	ENST00000261180	T	0.05199	3.48	5.47	5.47	0.80525	.	0.099373	0.64402	D	0.000002	T	0.13884	0.0336	N	0.20483	0.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38887	-0.9640	10	0.18276	T	0.48	.	19.3291	0.94278	0.0:0.0:1.0:0.0	.	921	Q9UKU6	TRHDE_HUMAN	N	921	ENSP00000261180:D921N	ENSP00000261180:D921N	D	+	1	0	TRHDE	71333115	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.582000	0.87167	0.655000	0.94253	GAT		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1		NM_013381		6	59	0	0	0	0.021553	0	6	59		
C12orf74	338809	broad.mit.edu	37	12	93100779	93100779	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:93100779C>T	ENST00000397833.3	+	2	823	c.372C>T	c.(370-372)ccC>ccT	p.P124P	C12orf74_ENST00000544406.2_Silent_p.P124P	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	124										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CACTGGAGCCCCAAACCCGGC	0.557																																						uc001tch.1		NaN																	0					0						c.(370-372)CCC>CCT		hypothetical protein LOC338809							61.0	68.0	66.0					12																	93100779		1946	4138	6084	SO:0001819	synonymous_variant	338809							g.chr12:93100779C>T	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.372C>T	12.37:g.93100779C>T						C12orf74_uc001tci.2_Silent_p.P124P	p.P124P	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN			2	602	+			124					F5H4P0	Silent	SNP	ENST00000397833.3	37	c.372C>T	CCDS41819.1																																																																																				0.557	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1		NM_001037671		6	79	0	0	0	0.001984	0	6	79		
EEA1	8411	broad.mit.edu	37	12	93244925	93244925	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:93244925C>T	ENST00000322349.8	-	9	1024	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	254					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTTTTGCATTCATCTTTGAGT	0.363																																						uc001tck.2		NaN																	0				ovary(2)|skin(1)	3						c.(760-762)GAA>AAA		early endosome antigen 1, 162kD							136.0	110.0	119.0					12																	93244925		2202	4300	6502	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93244925C>T	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.760G>A	12.37:g.93244925C>T	ENSP00000317955:p.Glu254Lys						p.E254K	NM_003566	NP_003557	Q15075	EEA1_HUMAN			9	1025	-			254			Potential.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.760G>A	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275368	0.80580	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	D	0.84146	-1.81	5.84	4.96	0.65561	.	0.111672	0.38897	N	0.001530	D	0.87617	0.6222	L	0.32530	0.975	0.43642	D	0.996046	D	0.69078	0.997	D	0.73380	0.98	D	0.86707	0.1933	10	0.35671	T	0.21	.	14.8076	0.69968	0.0:0.9312:0.0:0.0688	.	254	Q15075	EEA1_HUMAN	K	254;253	ENSP00000317955:E254K	ENSP00000317955:E254K	E	-	1	0	EEA1	91769056	1.000000	0.71417	0.990000	0.47175	0.819000	0.46315	4.489000	0.60309	1.480000	0.48289	0.650000	0.86243	GAA		0.363	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1		NM_003566		8	48	0	0	0	0.004482	0	8	48		
PAN3	255967	broad.mit.edu	37	13	28794473	28794473	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr13:28794473C>T	ENST00000380958.3	+	6	1110	c.958C>T	c.(958-960)Cac>Tac	p.H320Y	PAN3_ENST00000399613.1_Missense_Mutation_p.H120Y	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGTTTTCTCTCACCCATCCAT	0.458																																						uc001urz.2		NaN																	0				ovary(1)	1						c.(520-522)CAC>TAC		PABP1-dependent poly A-specific ribonuclease							198.0	194.0	195.0					13																	28794473		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28794473C>T	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.958C>T	13.37:g.28794473C>T	ENSP00000370345:p.His320Tyr					PAN3_uc010tdo.1_Missense_Mutation_p.H320Y|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Missense_Mutation_p.H120Y	p.H174Y	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	5	528	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	320			Interaction with polyadenylate-binding protein.			Missense_Mutation	SNP	ENST00000380958.3	37	c.520C>T	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613347	0.46631	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	T;T	0.44083	0.93;0.95	5.88	5.88	0.94601	.	0.088776	0.85682	D	0.000000	T	0.50240	0.1604	N	0.19112	0.55	0.80722	D	1	B;B;P	0.48294	0.001;0.003;0.908	B;B;P	0.61397	0.003;0.004;0.888	T	0.42015	-0.9476	10	0.37606	T	0.19	-10.8796	20.2371	0.98361	0.0:1.0:0.0:0.0	.	320;320;266	Q58A45-4;Q58A45;Q58A45-3	.;PAN3_HUMAN;.	Y	320;120	ENSP00000370345:H320Y;ENSP00000382522:H120Y	ENSP00000370345:H320Y	H	+	1	0	PAN3	27692473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.642000	0.67888	2.788000	0.95919	0.555000	0.69702	CAC		0.458	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4		NM_175854		33	147	0	0	0	0.017118	0	33	147		
TRPC4	7223	broad.mit.edu	37	13	38213252	38213252	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr13:38213252G>T	ENST00000379705.3	-	10	2993	c.2136C>A	c.(2134-2136)aaC>aaA	p.N712K	TRPC4_ENST00000355779.2_Missense_Mutation_p.N712K|TRPC4_ENST00000379679.1_Missense_Mutation_p.N539K|TRPC4_ENST00000379681.3_Missense_Mutation_p.N717K|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.N647K|TRPC4_ENST00000338947.5_Missense_Mutation_p.N539K|TRPC4_ENST00000358477.2_Missense_Mutation_p.N712K|TRPC4_ENST00000447043.1_Missense_Mutation_p.N712K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	712	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GCTTCACCAGGTTCCTCATAA	0.398																																						uc001uws.2		NaN																	0				ovary(3)|skin(2)|breast(1)	6						c.(2134-2136)AAC>AAA		transient receptor potential cation channel,							228.0	221.0	224.0					13																	38213252		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38213252G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2136C>A	13.37:g.38213252G>T	ENSP00000369027:p.Asn712Lys					TRPC4_uc010abv.2_Missense_Mutation_p.N292K|TRPC4_uc001uwt.2_Missense_Mutation_p.N712K|TRPC4_uc010tey.1_Missense_Mutation_p.N712K|TRPC4_uc010abw.2_Missense_Mutation_p.N539K|TRPC4_uc010abx.2_Missense_Mutation_p.N717K|TRPC4_uc010aby.2_Missense_Mutation_p.N647K	p.N712K	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	10	2371	-			712			Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2136C>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716519	0.48622	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.19	3.45	0.39498	.	0.000000	0.85682	D	0.000000	D	0.82765	0.5108	L	0.58810	1.83	0.80722	D	1	B;D;D;P;B;P	0.67145	0.346;0.968;0.996;0.754;0.346;0.61	B;P;D;P;B;B	0.78314	0.166;0.882;0.991;0.525;0.166;0.299	T	0.79027	-0.1971	10	0.07813	T	0.8	-31.5754	7.144	0.25573	0.386:0.0:0.614:0.0	.	712;647;717;539;712;712	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	K	712;717;539;539;712;712;647;712	ENSP00000369027:N712K;ENSP00000369003:N717K;ENSP00000342580:N539K;ENSP00000369001:N539K;ENSP00000348025:N712K;ENSP00000351264:N712K;ENSP00000368995:N647K;ENSP00000414316:N712K	ENSP00000342580:N539K	N	-	3	2	TRPC4	37111252	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.997000	0.40786	0.675000	0.31264	0.655000	0.94253	AAC		0.398	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2		NM_003306		18	174	1	0	2.94398e-08	0.007413	3.1315e-08	18	174		
SLITRK6	84189	broad.mit.edu	37	13	86368575	86368575	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr13:86368575T>C	ENST00000400286.2	-	2	2667	c.2069A>G	c.(2068-2070)tAt>tGt	p.Y690C		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	690					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGGACTTCTATAGACATGAAC	0.443																																						uc001vll.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(2068-2070)TAT>TGT		slit and trk like 6 precursor							244.0	229.0	234.0					13																	86368575		1920	4133	6053	SO:0001583	missense	84189					integral to membrane		g.chr13:86368575T>C	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2069A>G	13.37:g.86368575T>C	ENSP00000383143:p.Tyr690Cys					SLITRK6_uc010afe.1_Intron	p.Y690C	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2528	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		690			Cytoplasmic (Potential).		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.2069A>G	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	0.080	-1.186106	0.01620	.	.	ENSG00000184564	ENST00000400286	T	0.52057	0.68	5.84	5.84	0.93424	.	0.080433	0.52532	U	0.000073	T	0.23210	0.0561	N	0.03948	-0.315	0.53688	D	0.999976	B	0.18610	0.029	B	0.17433	0.018	T	0.19031	-1.0318	10	0.02654	T	1	-11.9608	15.0542	0.71901	0.0:0.0:0.0:1.0	.	690	Q9H5Y7	SLIK6_HUMAN	C	690	ENSP00000383143:Y690C	ENSP00000383143:Y690C	Y	-	2	0	SLITRK6	85266576	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	4.732000	0.62029	2.228000	0.72767	0.533000	0.62120	TAT		0.443	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2		NM_032229		50	255	0	0	0	0.01441	0	50	255		
TPP2	7174	broad.mit.edu	37	13	103326727	103326727	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr13:103326727G>A	ENST00000376065.4	+	27	3463	c.3427G>A	c.(3427-3429)Gga>Aga	p.G1143R	TPP2_ENST00000376052.3_Missense_Mutation_p.G1156R|TPP2_ENST00000466153.1_3'UTR	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1143					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)			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)					GGCTCAAGACGGAGCCATTTC	0.473																																						uc001vpi.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3427-3429)GGA>AGA		tripeptidyl peptidase II							109.0	101.0	103.0					13																	103326727		2203	4300	6503	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103326727G>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.3427G>A	13.37:g.103326727G>A	ENSP00000365233:p.Gly1143Arg						p.G1143R	NM_003291	NP_003282	P29144	TPP2_HUMAN			27	3530	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1143					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.3427G>A	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061880	0.55432	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.41	4.57	0.56435	.	0.094982	0.64402	N	0.000001	T	0.48978	0.1530	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	P	0.56788	0.806	T	0.36529	-0.9744	9	0.11485	T	0.65	.	14.5571	0.68109	0.0706:0.0:0.9294:0.0	.	1143	P29144	TPP2_HUMAN	R	1143;1156	.	ENSP00000365220:G1156R	G	+	1	0	TPP2	102124728	1.000000	0.71417	0.396000	0.26296	0.041000	0.13682	6.972000	0.76110	1.432000	0.47375	0.655000	0.94253	GGA		0.473	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2				17	62	0	0	0	0.028581	0	17	62		
LIG4	3981	broad.mit.edu	37	13	108860901	108860901	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr13:108860901C>T	ENST00000356922.4	-	2	2988	c.2716G>A	c.(2716-2718)Gaa>Aaa	p.E906K	LIG4_ENST00000442234.1_Missense_Mutation_p.E906K|LIG4_ENST00000405925.1_Missense_Mutation_p.E906K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	906	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TACTGGTTTTCTTCTTGTAAT	0.333								Non-homologous end-joining																														uc001vqn.2		NaN																	0					0						c.(2716-2718)GAA>AAA	NHEJ	DNA ligase IV							31.0	31.0	31.0					13																	108860901		2203	4298	6501	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108860901C>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2716G>A	13.37:g.108860901C>T	ENSP00000349393:p.Glu906Lys					LIG4_uc001vqo.2_Missense_Mutation_p.E906K|LIG4_uc010agg.1_Missense_Mutation_p.E839K|LIG4_uc010agf.2_Missense_Mutation_p.E906K|LIG4_uc001vqp.2_Missense_Mutation_p.E906K	p.E906K	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	2989	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		906			BRCT 2.		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.2716G>A	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452305	0.84209	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.53423	0.62;0.62;0.62	5.7	5.7	0.88788	BRCT (2);	0.209315	0.49916	D	0.000128	T	0.65270	0.2675	M	0.71581	2.175	0.80722	D	1	D	0.63880	0.993	P	0.57244	0.816	T	0.66217	-0.5979	10	0.56958	D	0.05	.	18.9973	0.92818	0.0:1.0:0.0:0.0	.	906	P49917	DNLI4_HUMAN	K	906	ENSP00000385955:E906K;ENSP00000402030:E906K;ENSP00000349393:E906K	ENSP00000349393:E906K	E	-	1	0	LIG4	107658902	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	5.451000	0.66632	2.737000	0.93849	0.567000	0.79289	GAA		0.333	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4		NM_002312		11	25	0	0	0	0.010729	0	11	25		
CPNE6	9362	broad.mit.edu	37	14	24546221	24546221	+	Splice_Site	SNP	G	G	A	rs371553770		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr14:24546221G>A	ENST00000397016.2	+	15	1610	c.1299G>A	c.(1297-1299)acG>acA	p.T433T	CPNE6_ENST00000537691.1_Splice_Site_p.T488T|CPNE6_ENST00000216775.2_Splice_Site_p.T433T	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	433	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GCCAAGCCACGGTAGGAAGAC	0.637																																						uc001wll.2		NaN																	0				skin(2)|ovary(1)	3						c.(1297-1299)ACG>ACA		copine 6		G		0,4406		0,0,2203	32.0	31.0	31.0		1299	2.0	1.0	14		31	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	CPNE6	NM_006032.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		433/558	24546221	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24546221G>A	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1299+1G>A	14.37:g.24546221G>A						CPNE6_uc010tnv.1_Silent_p.T488T|CPNE6_uc001wlm.2_Silent_p.T258T|CPNE6_uc001wln.2_Silent_p.T101T	p.T433T	NM_006032	NP_006023	O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	14	1398	+			433			VWFA.		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Silent	SNP	ENST00000397016.2	37	c.1299G>A	CCDS9607.1																																																																																				0.637	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			Silent	5	12	0	0	0	0.014758	0	5	12		
BMP4	652	broad.mit.edu	37	14	54417548	54417548	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr14:54417548G>A	ENST00000245451.4	-	4	822	c.429C>T	c.(427-429)aaC>aaT	p.N143N	BMP4_ENST00000417573.1_Silent_p.N143N|BMP4_ENST00000558984.1_Silent_p.N143N|BMP4_ENST00000559087.1_Silent_p.N143N|MIR5580_ENST00000580850.1_RNA	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	143					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGCTGCTGAGGTTAAAGAGGA	0.527																																						uc001xal.3		NaN																	0					0						c.(427-429)AAC>AAT		bone morphogenetic protein 4 preproprotein							56.0	51.0	53.0					14																	54417548		2201	4296	6497	SO:0001819	synonymous_variant	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54417548G>A	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.429C>T	14.37:g.54417548G>A						BMP4_uc010aoh.2_Silent_p.N143N|BMP4_uc001xao.3_Silent_p.N143N|BMP4_uc001xan.3_Silent_p.N143N	p.N143N	NM_130851	NP_570912	P12644	BMP4_HUMAN			3	616	-			143					Q9UM80	Silent	SNP	ENST00000245451.4	37	c.429C>T	CCDS9715.1																																																																																				0.527	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2		NM_001202		16	43	0	0	0	0.00499	0	16	43		
CYFIP1	23191	broad.mit.edu	37	15	22929892	22929892	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:22929892A>G	ENST00000313077.7	+	6	691	c.566A>G	c.(565-567)aAg>aGg	p.K189R	CYFIP1_ENST00000560848.1_Missense_Mutation_p.K189R	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 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)		TCAGCGTACAAGAGGTGAGCA	0.567																																						uc001yus.2		NaN																	0				ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(565-567)AAG>AGG		cytoplasmic FMR1 interacting protein 1 isoform							103.0	78.0	86.0					15																	22929892		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.chr15:22929892A>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.566A>G	15.37:g.22929892A>G	ENSP00000324549:p.Lys189Arg					CYFIP1_uc001yut.2_Missense_Mutation_p.K189R|CYFIP1_uc010aya.1_Missense_Mutation_p.K217R	p.K189R	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)	6	670	+		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)	189						Missense_Mutation	SNP	ENST00000313077.7	37	c.566A>G	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.659330	0.29515	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.46819	0.86	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	N	0.01019	-1.045	0.80722	D	1	D;B	0.58268	0.982;0.002	D;B	0.67548	0.952;0.007	T	0.47156	-0.9139	10	0.12103	T	0.63	-32.8514	14.8487	0.70281	1.0:0.0:0.0:0.0	.	217;189	E7EQ04;Q7L576	.;CYFP1_HUMAN	R	189;217	ENSP00000324549:K189R	ENSP00000324549:K189R	K	+	2	0	CYFIP1	20481333	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	9.141000	0.94612	1.974000	0.57490	0.459000	0.35465	AAG		0.567	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2		NM_014608		8	26	0	0	0	0.006122	0	8	26		
MAP1A	4130	broad.mit.edu	37	15	43817292	43817292	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:43817292G>C	ENST00000300231.5	+	4	4071	c.3621G>C	c.(3619-3621)gaG>gaC	p.E1207D	MAP1A_ENST00000382031.1_Missense_Mutation_p.E1445D|MAP1A_ENST00000399453.1_Missense_Mutation_p.E1207D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1207					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.E1207E(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAGCAAGGAGACCTCCCTGG	0.522																																						uc001zrt.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(3619-3621)GAG>GAC		microtubule-associated protein 1A	Estramustine(DB01196)						86.0	89.0	88.0					15																	43817292		1928	4128	6056	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817292G>C	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3621G>C	15.37:g.43817292G>C	ENSP00000300231:p.Glu1207Asp						p.E1207D	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	4088	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1207					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.3621G>C	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868230	0.32977	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02763	4.17;4.17;4.17	5.11	5.11	0.69529	.	.	.	.	.	T	0.10852	0.0265	M	0.79475	2.455	0.37401	D	0.912832	D	0.71674	0.998	P	0.60789	0.879	T	0.03641	-1.1017	9	0.31617	T	0.26	-21.015	9.8847	0.41255	0.1365:0.0:0.8635:0.0	.	1207	P78559	MAP1A_HUMAN	D	1445;1207;1207	ENSP00000371462:E1445D;ENSP00000382380:E1207D;ENSP00000300231:E1207D	ENSP00000300231:E1207D	E	+	3	2	MAP1A	41604584	0.960000	0.32886	1.000000	0.80357	0.919000	0.55068	1.069000	0.30641	2.674000	0.91012	0.655000	0.94253	GAG		0.522	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5		NM_002373		13	84	0	0	0	0.016723	0	13	84		
SECISBP2L	9728	broad.mit.edu	37	15	49329879	49329879	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:49329879C>T	ENST00000559471.1	-	2	375	c.112G>A	c.(112-114)Gat>Aat	p.D38N	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.D38N	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	38							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTTCCATTATCATTTGGGAGA	0.423																																						uc001zxe.1		NaN																	0				breast(1)|skin(1)	2						c.(112-114)GAT>AAT		SECIS binding protein 2-like							92.0	82.0	86.0					15																	49329879		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49329879C>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.112G>A	15.37:g.49329879C>T	ENSP00000453854:p.Asp38Asn					SECISBP2L_uc001zxd.1_Missense_Mutation_p.D38N|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Missense_Mutation_p.D38N	p.D38N	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			2	246	-			38					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.112G>A	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535288	0.85812	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.74842	-0.88	5.36	5.36	0.76844	.	0.161441	0.53938	D	0.000052	T	0.68970	0.3059	L	0.29908	0.895	0.53005	D	0.999969	P;P	0.37370	0.457;0.592	B;B	0.38985	0.149;0.287	T	0.72912	-0.4148	10	0.72032	D	0.01	.	19.0932	0.93238	0.0:1.0:0.0:0.0	.	38;38	Q93073;Q93073-2	SBP2L_HUMAN;.	N	38	ENSP00000261847:D38N	ENSP00000261847:D38N	D	-	1	0	SECISBP2L	47117171	1.000000	0.71417	0.856000	0.33681	0.865000	0.49528	7.468000	0.80943	2.485000	0.83878	0.655000	0.94253	GAT		0.423	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1		NM_014701		5	32	0	0	0	0.014758	0	5	32		
TRPM7	54822	broad.mit.edu	37	15	50866552	50866552	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:50866552T>A	ENST00000313478.7	-	36	5508	c.5227A>T	c.(5227-5229)Act>Tct	p.T1743S	TRPM7_ENST00000560955.1_Missense_Mutation_p.T1742S|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1743	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				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)			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)		TCTTCCAGAGTATTAGTTGGA	0.358																																						uc001zyt.3		NaN																	0				ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(5227-5229)ACT>TCT		transient receptor potential cation channel,							84.0	81.0	82.0					15																	50866552		1818	4083	5901	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50866552T>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.5227A>T	15.37:g.50866552T>A	ENSP00000320239:p.Thr1743Ser					TRPM7_uc001zyr.2_Missense_Mutation_p.T180S	p.T1743S	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	36	5491	-			1743			Cytoplasmic (Potential).|Alpha-type protein kinase.		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.5227A>T	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.898875	0.33535	.	.	ENSG00000092439	ENST00000313478	T	0.13420	2.59	5.25	5.25	0.73442	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.142430	0.53938	D	0.000041	T	0.12689	0.0308	L	0.33339	1.005	0.32325	N	0.56187	B	0.17038	0.02	B	0.20955	0.032	T	0.05835	-1.0861	10	0.29301	T	0.29	-11.9119	15.3214	0.74124	0.0:0.0:0.0:1.0	.	1743	Q96QT4	TRPM7_HUMAN	S	1743	ENSP00000320239:T1743S	ENSP00000320239:T1743S	T	-	1	0	TRPM7	48653844	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.222000	0.72249	2.191000	0.70037	0.528000	0.53228	ACT		0.358	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1		NM_017672		6	88	0	0	0	0.001984	0	6	88		
LARP6	55323	broad.mit.edu	37	15	71125360	71125360	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:71125360C>G	ENST00000299213.8	-	3	577	c.507G>C	c.(505-507)agG>agC	p.R169S	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	169	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CGGGGGTGGTCCTCCTCACCT	0.547																																						uc002ass.2		NaN																	0					0						c.(505-507)AGG>AGC		La ribonucleoprotein domain family, member 6							74.0	75.0	75.0					15																	71125360		2199	4297	6496	SO:0001583	missense	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71125360C>G	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.507G>C	15.37:g.71125360C>G	ENSP00000299213:p.Arg169Ser						p.R169S	NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN			3	578	-			169			HTH La-type RNA-binding.		Q5XKE4|Q8N3N2|Q9NUR0	Missense_Mutation	SNP	ENST00000299213.8	37	c.507G>C	CCDS32281.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605332	0.66445	.	.	ENSG00000166173	ENST00000299213	T	0.50548	0.74	5.43	3.56	0.40772	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (2);	0.000000	0.85682	D	0.000000	T	0.69061	0.3069	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69950	-0.5006	10	0.87932	D	0	-37.7102	7.3998	0.26956	0.0:0.7356:0.0:0.2644	.	169	Q9BRS8	LARP6_HUMAN	S	169	ENSP00000299213:R169S	ENSP00000299213:R169S	R	-	3	2	LARP6	68912414	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.328000	0.43867	0.667000	0.31107	0.555000	0.69702	AGG		0.547	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2		NM_018357		6	42	0	0	0	0.021553	0	6	42		
CRABP1	1381	broad.mit.edu	37	15	78640302	78640302	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:78640302A>G	ENST00000299529.6	+	4	502	c.397A>G	c.(397-399)Att>Gtt	p.I133V		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	133	Retinoic acid binding. {ECO:0000250}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoic acid binding (GO:0001972)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Tretinoin(DB00755)	CTGCACCAGAATTTATGTCCG	0.493																																					Ovarian(146;578 3231 38536)	uc002bdp.2		NaN																	0					0						c.(397-399)ATT>GTT		cellular retinoic acid binding protein 1	Alitretinoin(DB00523)|Etretinate(DB00926)						161.0	146.0	151.0					15																	78640302		2196	4293	6489	SO:0001583	missense	1381				multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity	g.chr15:78640302A>G		CCDS10301.1	15q24	2013-03-01	2001-11-28		ENSG00000166426	ENSG00000166426		"""Fatty acid binding protein family"""	2338	protein-coding gene	gene with protein product		180230	"""cellular retinoic acid-binding protein 1"""	RBP5		9154115	Standard	NM_004378		Approved	CRABP, CRABP-I, CRABPI	uc002bdp.2	P29762	OTTHUMG00000143862	ENST00000299529.6:c.397A>G	15.37:g.78640302A>G	ENSP00000299529:p.Ile133Val						p.I133V	NM_004378	NP_004369	P29762	RABP1_HUMAN			4	502	+			133			Retinoic acid binding (By similarity).		Q6IAY7|Q8WTV5	Missense_Mutation	SNP	ENST00000299529.6	37	c.397A>G	CCDS10301.1	.	.	.	.	.	.	.	.	.	.	A	3.373	-0.127962	0.06753	.	.	ENSG00000166426	ENST00000299529;ENST00000406419	T	0.06933	3.24	5.35	5.35	0.76521	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.095060	0.64402	D	0.000001	T	0.03520	0.0101	N	0.02736	-0.51	0.48830	D	0.999711	B	0.10296	0.003	B	0.13407	0.009	T	0.26189	-1.0110	10	0.02654	T	1	.	14.5533	0.68084	1.0:0.0:0.0:0.0	.	133	P29762	RABP1_HUMAN	V	133;72	ENSP00000299529:I133V	ENSP00000299529:I133V	I	+	1	0	CRABP1	76427357	1.000000	0.71417	0.990000	0.47175	0.776000	0.43924	5.298000	0.65710	2.027000	0.59764	0.460000	0.39030	ATT		0.493	CRABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290110.2		NM_004378		10	63	0	0	0	0.010729	0	10	63		
CREBBP	1387	broad.mit.edu	37	16	3788618	3788618	+	Missense_Mutation	SNP	G	G	A	rs398124146		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:3788618G>A	ENST00000262367.5	-	26	5145	c.4336C>T	c.(4336-4338)Cgc>Tgc	p.R1446C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1446	Acetyl-CoA binding. {ECO:0000250|UniProtKB:Q09472}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1446C(6)|p.R1446G(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGGCTGTGCGGAGGCAACGT	0.413			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		7	Substitution - Missense(7)	p.R1446H(3)|p.R1446L(2)|p.R1446C(2)	haematopoietic_and_lymphoid_tissue(4)|urinary_tract(1)|lung(1)|central_nervous_system(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(4336-4338)CGC>TGC		CREB binding protein isoform a							75.0	68.0	71.0					16																	3788618		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3788618G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4336C>T	16.37:g.3788618G>A	ENSP00000262367:p.Arg1446Cys					CREBBP_uc002cvw.2_Missense_Mutation_p.R1408C	p.R1446C	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	26	4540	-		Ovarian(90;0.0266)	1446			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4336C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	17.20	3.329498	0.60743	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.94330	-3.4;-3.4	5.28	4.29	0.51040	.	0.000000	0.64402	D	0.000004	D	0.97739	0.9258	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98988	1.0807	10	0.87932	D	0	-29.6499	15.2916	0.73870	0.0:0.0:0.8588:0.1412	.	1476;1446	Q4LE28;Q92793	.;CBP_HUMAN	C	1446;1476;1408;35	ENSP00000262367:R1446C;ENSP00000371502:R1408C	ENSP00000262367:R1446C	R	-	1	0	CREBBP	3728619	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.937000	0.63513	1.303000	0.44873	0.561000	0.74099	CGC		0.413	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		5	21	0	0	0	0.021553	0	5	21		
ADCY9	115	broad.mit.edu	37	16	4016470	4016470	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:4016470G>A	ENST00000294016.3	-	11	3906	c.3368C>T	c.(3367-3369)gCg>gTg	p.A1123V		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1123	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)|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)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGGGCCTGCGCGGTGTTCAG	0.602																																						uc002cvx.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3367-3369)GCG>GTG		adenylate cyclase 9							82.0	70.0	74.0					16																	4016470		2197	4300	6497	SO:0001583	missense	115				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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016470G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3368C>T	16.37:g.4016470G>A	ENSP00000294016:p.Ala1123Val						p.A1123V	NM_001116	NP_001107	O60503	ADCY9_HUMAN			11	3907	-			1123			Guanylate cyclase 2.|Cytoplasmic (Potential).		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.3368C>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956971	0.34565	.	.	ENSG00000162104	ENST00000294016	T	0.30981	1.51	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.331667	0.37053	N	0.002268	T	0.26159	0.0638	L	0.27053	0.805	0.09310	N	1	B	0.24132	0.098	B	0.12837	0.008	T	0.14337	-1.0476	10	0.46703	T	0.11	.	19.7885	0.96447	0.0:0.0:1.0:0.0	.	1123	O60503	ADCY9_HUMAN	V	1123	ENSP00000294016:A1123V	ENSP00000294016:A1123V	A	-	2	0	ADCY9	3956471	0.992000	0.36948	0.028000	0.17463	0.844000	0.47949	4.722000	0.61958	2.752000	0.94435	0.655000	0.94253	GCG		0.602	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1				8	81	0	0	0	0.004482	0	8	81		
EMP2	2013	broad.mit.edu	37	16	10631801	10631801	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:10631801G>A	ENST00000359543.3	-	4	509	c.300C>T	c.(298-300)atC>atT	p.I100I	EMP2_ENST00000536829.1_Silent_p.I100I	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	100					cell proliferation (GO:0008283)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|regulation of glomerular filtration (GO:0003093)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	integrin binding (GO:0005178)			NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						TTAGCTGGATGATGGAGGTTA	0.542																																					GBM(158;2021 2691 14714 39478)	uc002czx.2		NaN																	0					0						c.(298-300)ATC>ATT		epithelial membrane protein 2							149.0	139.0	142.0					16																	10631801		2197	4300	6497	SO:0001819	synonymous_variant	2013				cell proliferation	integral to membrane		g.chr16:10631801G>A	U52100	CCDS10541.1	16p13.2	2008-08-01			ENSG00000213853	ENSG00000213853			3334	protein-coding gene	gene with protein product		602334				8996089, 10331954, 16216233	Standard	NM_001424		Approved	XMP	uc002czx.3	P54851	OTTHUMG00000129752	ENST00000359543.3:c.300C>T	16.37:g.10631801G>A							p.I100I	NM_001424	NP_001415	P54851	EMP2_HUMAN			4	494	-			100			Helical; (Potential).		B2R7V6|D3DUF8	Silent	SNP	ENST00000359543.3	37	c.300C>T	CCDS10541.1																																																																																				0.542	EMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251965.1		NM_001424		22	79	0	0	0	0.012319	0	22	79		
ACSM5	54988	broad.mit.edu	37	16	20448621	20448621	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:20448621G>T	ENST00000331849.4	+	12	1615	c.1468G>T	c.(1468-1470)Gcc>Tcc	p.A490S	CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	490					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AGTGGAAAGTGCCCTGGCAGA	0.567																																						uc002dhe.2		NaN																	0				ovary(2)	2						c.(1468-1470)GCC>TCC		acyl-CoA synthetase medium-chain family member 5							84.0	84.0	84.0					16																	20448621		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20448621G>T		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1468G>T	16.37:g.20448621G>T	ENSP00000327916:p.Ala490Ser						p.A490S	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			12	1615	+			490					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1468G>T	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927780	0.52759	.	.	ENSG00000183549	ENST00000331849	T	0.62364	0.03	4.89	4.89	0.63831	AMP-dependent synthetase/ligase (1);	0.099706	0.44097	D	0.000489	T	0.80829	0.4698	M	0.83852	2.665	0.43283	D	0.995257	D	0.57571	0.98	D	0.72982	0.979	D	0.84141	0.0417	10	0.87932	D	0	-13.2585	17.1741	0.86837	0.0:0.0:1.0:0.0	.	490	Q6NUN0	ACSM5_HUMAN	S	490	ENSP00000327916:A490S	ENSP00000327916:A490S	A	+	1	0	ACSM5	20356122	1.000000	0.71417	0.174000	0.22961	0.005000	0.04900	8.028000	0.88798	2.413000	0.81919	0.650000	0.86243	GCC		0.567	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1		NM_017888		10	63	1	0	0.00829132	0.008291	0.00834127	10	63		
SALL1	6299	broad.mit.edu	37	16	51174110	51174110	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:51174110G>C	ENST00000251020.4	-	2	2056	c.2023C>G	c.(2023-2025)Cct>Gct	p.P675A	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.P578A	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	675					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P675S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCCCCAAAAGGAAACTTGGCC	0.582																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NaN																	1	Substitution - Missense(1)		skin(1)	skin(5)|ovary(3)	8						c.(2023-2025)CCT>GCT		sal-like 1 isoform a							72.0	77.0	76.0					16																	51174110		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174110G>C	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2023C>G	16.37:g.51174110G>C	ENSP00000251020:p.Pro675Ala					SALL1_uc010vgr.1_Missense_Mutation_p.P578A|SALL1_uc010cbv.2_Intron	p.P675A	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2054	-		all_cancers(37;0.0322)	675					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2023C>G	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568638	0.65651	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.08458	3.12;3.09	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.30510	0.0767	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.03910	-1.0993	10	0.72032	D	0.01	.	18.0154	0.89238	0.0:0.0:1.0:0.0	.	675	Q9NSC2	SALL1_HUMAN	A	675;578;639	ENSP00000251020:P675A;ENSP00000407914:P578A	ENSP00000251020:P675A	P	-	1	0	SALL1	49731611	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.473000	0.83533	0.551000	0.68910	CCT		0.582	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2		NM_002968		11	80	0	0	0	0.010729	0	11	80		
CX3CL1	6376	broad.mit.edu	37	16	57416922	57416922	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:57416922C>T	ENST00000006053.6	+	3	1283	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L	CX3CL1_ENST00000563383.1_Missense_Mutation_p.S397L|CX3CL1_ENST00000565912.1_Missense_Mutation_p.S353L	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	391					angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGTAGTAATTCATATGTCCTG	0.577																																						uc002eli.2		NaN																	0					0						c.(1171-1173)TCA>TTA		chemokine (C-X3-C motif) ligand 1 precursor							139.0	146.0	143.0					16																	57416922		2198	4300	6498	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416922C>T	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.1172C>T	16.37:g.57416922C>T	ENSP00000006053:p.Ser391Leu						p.S391L	NM_002996	NP_002987	P78423	X3CL1_HUMAN			3	1239	+			391			Cytoplasmic (Potential).		O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.1172C>T	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453388	0.63290	.	.	ENSG00000006210	ENST00000006053	T	0.12879	2.64	5.07	5.07	0.68467	.	0.000000	0.30118	N	0.010378	T	0.27594	0.0678	L	0.36672	1.1	0.41532	D	0.988465	D	0.89917	1.0	D	0.80764	0.994	T	0.01524	-1.1333	10	0.87932	D	0	-8.6714	14.0077	0.64475	0.0:1.0:0.0:0.0	.	391	P78423	X3CL1_HUMAN	L	391	ENSP00000006053:S391L	ENSP00000006053:S391L	S	+	2	0	CX3CL1	55974423	0.985000	0.35326	0.930000	0.37139	0.288000	0.27193	3.446000	0.52928	2.352000	0.79861	0.558000	0.71614	TCA		0.577	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3		NM_002996		11	84	0	0	0	0.013537	0	11	84		
RLTPR	146206	broad.mit.edu	37	16	67679643	67679643	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:67679643G>C	ENST00000334583.6	+	3	477	c.149G>C	c.(148-150)aGa>aCa	p.R50T	RLTPR_ENST00000545661.1_Missense_Mutation_p.R50T	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	50					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.R50K(1)|p.R90K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTACGATGGAGAGCCTACCTG	0.667																																						uc002etn.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(1)	1						c.(148-150)AGA>ACA		RGD motif, leucine rich repeats, tropomodulin							70.0	82.0	78.0					16																	67679643		2126	4242	6368	SO:0001583	missense	146206							g.chr16:67679643G>C	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.149G>C	16.37:g.67679643G>C	ENSP00000334958:p.Arg50Thr					RLTPR_uc010cel.1_Missense_Mutation_p.R50T|RLTPR_uc010vjr.1_Missense_Mutation_p.R50T	p.R50T	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	3	269	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	50					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.149G>C	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679412	0.68042	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.57273	0.5;0.41	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.71117	0.3302	M	0.73962	2.25	0.37907	D	0.931249	D;D	0.76494	0.99;0.999	P;D	0.78314	0.868;0.991	T	0.77640	-0.2512	10	0.87932	D	0	-7.9587	14.4185	0.67168	0.0:0.0:1.0:0.0	.	50;50	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	T	50	ENSP00000334958:R50T;ENSP00000441481:R50T	ENSP00000334958:R50T	R	+	2	0	RLTPR	66237144	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	5.098000	0.64548	2.497000	0.84241	0.561000	0.74099	AGA		0.667	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1		NM_001013838		10	77	0	0	0	0.006214	0	10	77		
FUK	197258	broad.mit.edu	37	16	70516007	70516007	+	IGR	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:70516007C>G	ENST00000288078.6	+	0	4081				COG4_ENST00000323786.5_Missense_Mutation_p.M664I	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGAACTCTGCCATTTGCTGCT	0.532																																						uc002ezc.2		NaN																	0					0						c.(1990-1992)ATG>ATC		component of oligomeric golgi complex 4							153.0	127.0	136.0					16																	70516007		2198	4300	6498	SO:0001628	intergenic_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70516007C>G		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085		16.37:g.70516007C>G						COG4_uc002eza.2_Missense_Mutation_p.M1I|COG4_uc002ezb.2_Missense_Mutation_p.M120I|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.M643I|COG4_uc002eze.2_Missense_Mutation_p.M358I	p.M664I	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			16	2003	-		Ovarian(137;0.0694)	660			D domain.		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.1992G>C	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610757	0.66558	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000526700;ENST00000539961	T	0.45276	0.9	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	L	0.43152	1.355	0.80722	D	1	B;B;B;B	0.15141	0.011;0.012;0.01;0.009	B;B;B;B	0.14578	0.011;0.006;0.006;0.004	T	0.20140	-1.0284	10	0.66056	D	0.02	-23.3193	17.6317	0.88111	0.0:1.0:0.0:0.0	.	570;638;660;120	Q8N8L9;Q6PIW8;Q9H9E3;E9PQK0	.;.;COG4_HUMAN;.	I	664;639;120;322	ENSP00000315775:M664I	ENSP00000315775:M664I	M	-	3	0	COG4	69073508	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.595000	0.82710	2.837000	0.97791	0.655000	0.94253	ATG		0.532	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2		NM_145059		10	55	0	0	0	0.008291	0	10	55		
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs6416709	byFrequency	TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:71054178T>C	ENST00000393567.2	-	22	3379	c.3229A>G	c.(3229-3231)Ata>Gta	p.I1077V	HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1077			I -> V (in dbSNP:rs6416709).		cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.I1077V(3)|p.I1029V(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTTCTTTATGGCCAAGGGC	0.418													t|||	2	0.000399361	0.0	0.0029	5008	,	,		17320	0.0		0.0	False		,,,				2504	0.0					uc002ezr.2		NaN																	6	Substitution - Missense(6)		lung(2)|prostate(2)|endometrium(2)	ovary(1)|skin(1)	2						c.(3229-3231)ATA>GTA		hydrocephalus inducing isoform a							129.0	123.0	125.0					16																	71054178		1855	4094	5949	SO:0001583	missense	54768							g.chr16:71054178T>C	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3229A>G	16.37:g.71054178T>C	ENSP00000377197:p.Ile1077Val						p.I1077V	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			22	3357	-		Ovarian(137;0.0654)	1077					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3229A>G	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	t	6.789	0.514533	0.12944	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.06371	3.31;3.31	4.61	0.358	0.16084	.	0.892413	0.09073	U	0.852581	T	0.06096	0.0158	L	0.58101	1.795	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.33059	-0.9883	10	0.18710	T	0.47	.	1.4303	0.02332	0.2901:0.0873:0.1652:0.4573	rs6416709;rs60865895	1077	F8WD23	.	V	1077;1077;1029	ENSP00000377197:I1077V;ENSP00000398544:I1029V	ENSP00000313052:I1077V	I	-	1	0	HYDIN	69611679	0.055000	0.20627	0.982000	0.44146	0.109000	0.19521	0.089000	0.15002	0.228000	0.21019	-0.676000	0.03789	ATA		0.418	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3				7	49	0	0	0	0.001984	0	7	49		
TP53	7157	broad.mit.edu	37	17	7576886	7576886	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:7576886C>T	ENST00000269305.4	-	9	1149	c.960G>A	c.(958-960)aaG>aaA	p.K320K	TP53_ENST00000445888.2_Silent_p.K320K|TP53_ENST00000455263.2_Silent_p.K320K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Silent_p.K320K|TP53_ENST00000359597.4_Silent_p.K320K	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	320	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.		K -> N (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.K320N(3)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.L308fs*15(1)|p.K320K(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCAGTGGTTTCTTCTTTGGCT	0.458		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		18	Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - Missense(3)|Unknown(1)|Substitution - coding silent(1)	p.0?(7)|p.K320N(3)|p.K320fs*26(2)|p.K320*(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K320fs*25(1)|p.L308fs*15(1)|p.K320fs*18(1)|p.K320K(1)	breast(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|upper_aerodigestive_tract(1)|stomach(1)|urinary_tract(1)|lung(1)|ovary(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(958-960)AAG>AAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							128.0	118.0	121.0					17																	7576886		2203	4300	6503	SO:0001819	synonymous_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576886C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.960G>A	17.37:g.7576886C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Silent_p.K320K|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Silent_p.K188K|TP53_uc010cng.1_Silent_p.K188K|TP53_uc002gii.1_Silent_p.K188K|TP53_uc010cnh.1_Silent_p.K320K|TP53_uc010cni.1_Silent_p.K320K|TP53_uc002gij.2_Silent_p.K320K	p.K320K	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1154	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	320	K->A: Loss of nuclear localization; when associated with A-319 and A-321.	K -> N (in sporadic cancers; somatic mutation).	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	ENST00000269305.4	37	c.960G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.892	1.204421	0.22205	.	.	ENSG00000141510	ENST00000419024	.	.	.	5.16	4.19	0.49359	.	.	.	.	.	T	0.58921	0.2156	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56505	-0.7968	4	.	.	.	-37.1411	8.6667	0.34125	0.0:0.8954:0.0:0.1046	.	.	.	.	K	7	.	.	R	-	2	0	TP53	7517611	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.085000	0.30840	1.381000	0.46364	0.561000	0.74099	AGA		0.458	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		26	41	0	0	0	0.021523	0	26	41		
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:7577099C>G	ENST00000269305.4	-	8	1028	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGCCGGTCTCTCCCAGGACA	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM993218	TP53	M	rs121912660	c.(838-840)AGA>ACA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							77.0	67.0	70.0					17																	7577099		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577099C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.839G>C	17.37:g.7577099C>G	ENSP00000269305:p.Arg280Thr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148T|TP53_uc010cng.1_Missense_Mutation_p.R148T|TP53_uc002gii.1_Missense_Mutation_p.R148T|TP53_uc010cnh.1_Missense_Mutation_p.R280T|TP53_uc010cni.1_Missense_Mutation_p.R280T|TP53_uc002gij.2_Missense_Mutation_p.R280T	p.R280T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1033	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.839G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091761	0.94149	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;0.992	D;D;D;D	0.97110	0.984;1.0;0.984;0.977	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	T	280;280;280;280;280;269;148	ENSP00000352610:R280T;ENSP00000269305:R280T;ENSP00000398846:R280T;ENSP00000391127:R280T;ENSP00000391478:R280T;ENSP00000425104:R148T	ENSP00000269305:R280T	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		13	25	0	0	0	0.013537	0	13	25		
KDM6B	23135	broad.mit.edu	37	17	7751845	7751845	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:7751845C>G	ENST00000448097.2	+	11	2570	c.2239C>G	c.(2239-2241)Cct>Gct	p.P747A	KDM6B_ENST00000254846.5_Missense_Mutation_p.P747A			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	747	Pro-rich.|Thr-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CACTACTGCTCCTGCTGTCGC	0.652																																						uc002giw.1		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(2239-2241)CCT>GCT		lysine (K)-specific demethylase 6B							45.0	55.0	52.0					17																	7751845		2200	4298	6498	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751845C>G	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2239C>G	17.37:g.7751845C>G	ENSP00000412513:p.Pro747Ala					KDM6B_uc002gix.2_Missense_Mutation_p.P49A	p.P747A	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			11	2615	+			747			Pro-rich.|Thr-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2239C>G		.	.	.	.	.	.	.	.	.	.	C	0.013	-1.629728	0.00813	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.04654	3.58;3.58	3.48	0.0599	0.14334	.	1.066820	0.07441	N	0.897343	T	0.01940	0.0061	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47774	-0.9091	10	0.08599	T	0.76	-0.8552	4.5721	0.12216	0.259:0.4327:0.3083:0.0	.	747;747	O15054;O15054-1	KDM6B_HUMAN;.	A	747	ENSP00000254846:P747A;ENSP00000412513:P747A	ENSP00000254846:P747A	P	+	1	0	KDM6B	7692570	0.842000	0.29525	0.014000	0.15608	0.419000	0.31324	1.033000	0.30191	0.046000	0.15833	0.491000	0.48974	CCT		0.652	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1		XM_043272		6	48	0	0	0	0.021553	0	6	48		
CNTROB	116840	broad.mit.edu	37	17	7836462	7836462	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:7836462C>T	ENST00000563694.1	+	1	990	c.65C>T	c.(64-66)tCa>tTa	p.S22L	CNTROB_ENST00000380262.3_Missense_Mutation_p.S22L|TRAPPC1_ENST00000540486.1_5'Flank|TRAPPC1_ENST00000303731.4_5'Flank|CNTROB_ENST00000380255.3_Missense_Mutation_p.S22L|CNTROB_ENST00000565740.1_Missense_Mutation_p.S22L|RP11-1099M24.7_ENST00000573621.1_5'Flank	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	22					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AGTGATTCATCAGAACCCCCT	0.602																																						uc002gjq.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(64-66)TCA>TTA		centrobin, centrosomal BRCA2 interacting protein							100.0	106.0	104.0					17																	7836462		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7836462C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.65C>T	17.37:g.7836462C>T	ENSP00000456335:p.Ser22Leu					TRAPPC1_uc002gjo.1_5'Flank|CNTROB_uc002gjp.2_Missense_Mutation_p.S22L|CNTROB_uc002gjr.2_5'Flank	p.S22L	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN			2	984	+		Prostate(122;0.173)	22					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.65C>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777411	0.49786	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.47869	1.4;0.83	5.28	4.25	0.50352	.	0.205916	0.24518	N	0.037840	T	0.48750	0.1517	N	0.24115	0.695	0.09310	N	1	B;D	0.61080	0.047;0.989	B;D	0.75020	0.022;0.985	T	0.33240	-0.9876	10	0.72032	D	0.01	-8.7149	6.011	0.19575	0.1893:0.7163:0.0:0.0944	.	22;22	Q8N137;Q8N137-2	CNTRB_HUMAN;.	L	22	ENSP00000369614:S22L;ENSP00000369605:S22L	ENSP00000369605:S22L	S	+	2	0	CNTROB	7777187	0.993000	0.37304	0.956000	0.39512	0.452000	0.32318	2.441000	0.44864	2.457000	0.83068	0.563000	0.77884	TCA		0.602	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1		NM_053051		14	145	0	0	0	0.024245	0	14	145		
NCOR1	9611	broad.mit.edu	37	17	16089958	16089958	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:16089958C>T	ENST00000268712.3	-	3	409	c.152G>A	c.(151-153)aGt>aAt	p.S51N	NCOR1_ENST00000395848.1_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.S51N	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	51	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGATGCCTGACTCACTTCAAG	0.413																																						uc002gpo.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(151-153)AGT>AAT		nuclear receptor co-repressor 1							94.0	84.0	87.0					17																	16089958		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16089958C>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.152G>A	17.37:g.16089958C>T	ENSP00000268712:p.Ser51Asn					NCOR1_uc002gpn.2_Missense_Mutation_p.S51N|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.2_Intron|NCOR1_uc002gps.1_Missense_Mutation_p.S51N|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.S51N|NCOR1_uc010cpa.1_Missense_Mutation_p.S51N|NCOR1_uc002gpu.2_Missense_Mutation_p.S51N	p.S51N	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	3	392	-			51			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.152G>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291148	0.40494	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000458113;ENST00000411510;ENST00000436828;ENST00000430577	T;T	0.42900	0.96;1.57	5.78	4.81	0.61882	.	0.149361	0.48767	N	0.000178	T	0.44644	0.1303	N	0.14661	0.345	0.80722	D	1	B;B;D;B;B;B	0.63046	0.139;0.139;0.992;0.139;0.01;0.0	B;B;D;B;B;B	0.68943	0.034;0.055;0.961;0.055;0.038;0.001	T	0.45629	-0.9248	10	0.46703	T	0.11	-10.8805	11.9824	0.53127	0.0:0.9211:0.0:0.0789	.	51;51;51;51;51;51	E7EU93;E7EV02;Q3B773;E7EW50;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	N	51	ENSP00000268712:S51N;ENSP00000379192:S51N	ENSP00000268712:S51N	S	-	2	0	NCOR1	16030683	0.998000	0.40836	0.882000	0.34594	0.951000	0.60555	1.760000	0.38430	1.445000	0.47624	0.563000	0.77884	AGT		0.413	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311		9	61	0	0	0	0.004482	0	9	61		
ULK2	9706	broad.mit.edu	37	17	19685248	19685248	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:19685248C>G	ENST00000395544.4	-	23	3092	c.2593G>C	c.(2593-2595)Gag>Cag	p.E865Q	ULK2_ENST00000361658.2_Missense_Mutation_p.E865Q	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	865	CTD-like region.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ACCACACTCTCCTGGATCTGG	0.522																																						uc002gwm.3		NaN																	0				skin(2)|large_intestine(1)|stomach(1)	4						c.(2593-2595)GAG>CAG		unc-51-like kinase 2							173.0	124.0	140.0					17																	19685248		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19685248C>G	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2593G>C	17.37:g.19685248C>G	ENSP00000378914:p.Glu865Gln					ULK2_uc002gwn.2_Missense_Mutation_p.E865Q	p.E865Q	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN			23	3102	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		865					A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.2593G>C	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313450	0.60414	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.44881	0.91;0.91	5.46	5.46	0.80206	Serine/threonine-protein kinase, C-terminal (1);	0.098116	0.64402	D	0.000001	T	0.41190	0.1148	N	0.12611	0.24	0.50171	D	0.999852	D	0.54964	0.969	P	0.56278	0.795	T	0.22906	-1.0203	10	0.21540	T	0.41	-20.8636	18.2989	0.90157	0.0:1.0:0.0:0.0	.	865	Q8IYT8	ULK2_HUMAN	Q	865	ENSP00000354877:E865Q;ENSP00000378914:E865Q	ENSP00000354877:E865Q	E	-	1	0	ULK2	19625840	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.398000	0.79919	2.568000	0.86640	0.585000	0.79938	GAG		0.522	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2		NM_014683		13	102	0	0	0	0.013537	0	13	102		
SEZ6	124925	broad.mit.edu	37	17	27308687	27308687	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:27308687C>T	ENST00000317338.12	-	2	854	c.426G>A	c.(424-426)ccG>ccA	p.P142P	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Silent_p.P142P|SEZ6_ENST00000335960.6_Silent_p.P142P|SEZ6_ENST00000360295.9_Silent_p.P142P			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	142	Pro-rich.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ACTCTGACTCCGGACTCCAGG	0.647																																						uc002hdp.2		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(424-426)CCG>CCA		seizure related 6 homolog isoform 1							37.0	41.0	40.0					17																	27308687		2203	4300	6503	SO:0001819	synonymous_variant	124925					integral to membrane|plasma membrane		g.chr17:27308687C>T	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.426G>A	17.37:g.27308687C>T						SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Silent_p.P142P|SEZ6_uc002hdq.1_Silent_p.P17P|SEZ6_uc010crz.1_Silent_p.P142P	p.P142P	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		2	620	-	Lung NSC(42;0.0137)		142			Pro-rich.|Extracellular (Potential).		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Silent	SNP	ENST00000317338.12	37	c.426G>A	CCDS45639.1																																																																																				0.647	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3				5	36	0	0	0	0.021553	0	5	36		
MYO1D	4642	broad.mit.edu	37	17	30986217	30986217	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:30986217C>T	ENST00000318217.5	-	17	2565	c.2261G>A	c.(2260-2262)cGa>cAa	p.R754Q	MYO1D_ENST00000579584.1_Missense_Mutation_p.R754Q|MYO1D_ENST00000394649.4_Missense_Mutation_p.R666Q|RP11-220C2.1_ENST00000582272.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	754					early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CCCGTAGTCTCGCATGGTCTT	0.532											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hho.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(2260-2262)CGA>CAA		myosin ID							160.0	135.0	144.0					17																	30986217		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30986217C>T	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2261G>A	17.37:g.30986217C>T	ENSP00000324527:p.Arg754Gln		OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	MYO1D_uc002hhp.1_Missense_Mutation_p.R754Q	p.R754Q	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		17	2273	-			754					A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.2261G>A	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089829	0.55968	.	.	ENSG00000176658	ENST00000318217	D	0.87256	-2.23	6.07	1.53	0.23141	.	0.183165	0.26032	U	0.026745	T	0.77805	0.4185	L	0.38175	1.15	0.58432	D	0.999995	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.66456	-0.5919	10	0.28530	T	0.3	.	8.1002	0.30852	0.0:0.6038:0.0:0.3962	.	665;754	Q7Z3N6;O94832	.;MYO1D_HUMAN	Q	754	ENSP00000324527:R754Q	ENSP00000324527:R754Q	R	-	2	0	MYO1D	28010330	0.345000	0.24835	0.480000	0.27341	0.919000	0.55068	0.802000	0.27069	0.461000	0.27071	0.655000	0.94253	CGA		0.532	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1				29	94	0	0	0	0.00632	0	29	94		
PPP1R1B	84152	broad.mit.edu	37	17	37790282	37790282	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:37790282G>C	ENST00000254079.4	+	5	857	c.388G>C	c.(388-390)Gaa>Caa	p.E130Q	PPP1R1B_ENST00000579000.1_Missense_Mutation_p.E97Q|PPP1R1B_ENST00000580825.1_Missense_Mutation_p.E130Q|PPP1R1B_ENST00000394265.1_Missense_Mutation_p.E94Q|PPP1R1B_ENST00000394267.2_Missense_Mutation_p.E94Q	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	130	Asp/Glu-rich (acidic).				intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ggatgatgaagaagaggaaga	0.547																																						uc002hrz.2		NaN																	0					0						c.(388-390)GAA>CAA		protein phosphatase 1, regulatory (inhibitor)							102.0	97.0	99.0					17																	37790282		2203	4300	6503	SO:0001583	missense	84152				signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity	g.chr17:37790282G>C	AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9287	protein-coding gene	gene with protein product	"""dopamine and cAMP regulated phosphoprotein"""	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	ENST00000254079.4:c.388G>C	17.37:g.37790282G>C	ENSP00000254079:p.Glu130Gln					PPP1R1B_uc002hsa.2_Missense_Mutation_p.E141Q|PPP1R1B_uc010cvx.2_Missense_Mutation_p.E97Q|PPP1R1B_uc002hsb.2_Missense_Mutation_p.E94Q|PPP1R1B_uc002hsc.2_Missense_Mutation_p.E94Q	p.E130Q	NM_032192	NP_115568	Q9UD71	PPR1B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		5	855	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		130			Asp/Glu-rich (acidic).		Q547V9|Q547W0|Q9H7G1	Missense_Mutation	SNP	ENST00000254079.4	37	c.388G>C	CCDS11339.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326294	0.60743	.	.	ENSG00000131771	ENST00000254079;ENST00000357165;ENST00000394271;ENST00000394267;ENST00000394265	T;T;T	0.35605	1.3;1.38;1.38	5.84	5.84	0.93424	.	0.544361	0.18600	N	0.136493	T	0.45054	0.1323	L	0.44542	1.39	0.37270	D	0.907368	B;P;B	0.35468	0.415;0.503;0.415	P;B;P	0.46479	0.518;0.365;0.518	T	0.49263	-0.8958	10	0.62326	D	0.03	-2.6077	15.6279	0.76878	0.0:0.0:1.0:0.0	.	130;141;130	B3KVQ9;E7ENN5;Q9UD71	.;.;PPR1B_HUMAN	Q	130;130;141;94;94	ENSP00000254079:E130Q;ENSP00000377810:E94Q;ENSP00000377808:E94Q	ENSP00000254079:E130Q	E	+	1	0	PPP1R1B	35043808	0.998000	0.40836	0.405000	0.26409	0.969000	0.65631	3.443000	0.52907	2.768000	0.95171	0.561000	0.74099	GAA		0.547	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2		NM_032192		13	103	0	0	0	0.020292	0	13	103		
KRT14	3861	broad.mit.edu	37	17	39740032	39740032	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:39740032C>T	ENST00000167586.6	-	4	993	c.907G>A	c.(907-909)Gag>Aag	p.E303K		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	303	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				AACCATTCCTCGGCATCCTTG	0.542																																						uc002hxf.1		NaN																	0				ovary(1)	1						c.(907-909)GAG>AAG		keratin 14							234.0	210.0	218.0					17																	39740032		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740032C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.907G>A	17.37:g.39740032C>T	ENSP00000167586:p.Glu303Lys					JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.E303K	p.E303K	NM_000526	NP_000517	P02533	K1C14_HUMAN			4	968	-		Breast(137;0.000307)	303			Rod.|Coil 2.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.907G>A	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730393	0.69074	.	.	ENSG00000186847	ENST00000167586	D	0.93763	-3.28	4.87	4.87	0.63330	Prefoldin (1);Filament (1);	0.000000	0.53938	D	0.000047	D	0.96116	0.8734	M	0.88640	2.97	0.52099	D	0.999942	D	0.56035	0.974	P	0.55577	0.779	D	0.96711	0.9525	10	0.87932	D	0	.	14.0653	0.64824	0.1512:0.8488:0.0:0.0	.	303	P02533	K1C14_HUMAN	K	303	ENSP00000167586:E303K	ENSP00000167586:E303K	E	-	1	0	KRT14	36993558	0.998000	0.40836	0.920000	0.36463	0.654000	0.38779	3.921000	0.56454	2.407000	0.81776	0.655000	0.94253	GAG		0.542	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1		NM_000526		28	249	0	0	0	0.024334	0	28	249		
CCR10	2826	broad.mit.edu	37	17	40831910	40831910	+	Silent	SNP	C	C	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:40831910C>A	ENST00000332438.4	-	2	769	c.750G>T	c.(748-750)gtG>gtT	p.V250V	PLEKHH3_ENST00000293349.6_5'Flank|CNTNAP1_ENST00000264638.4_5'Flank|CCR10_ENST00000591765.1_Silent_p.V28V|PLEKHH3_ENST00000591022.1_5'Flank|PLEKHH3_ENST00000412503.1_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	250					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CCACCAGAGCCACCACGACGC	0.731																																						uc002iax.3		NaN																	0					0						c.(748-750)GTG>GTT		CC chemokine receptor 10							5.0	6.0	5.0					17																	40831910		2003	3964	5967	SO:0001819	synonymous_variant	2826					integral to plasma membrane		g.chr17:40831910C>A	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.750G>T	17.37:g.40831910C>A						PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	p.V250V	NM_016602	NP_057686	P46092	CCR10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	2	754	-		Breast(137;0.000153)	250			Helical; Name=6; (Potential).		Q4V749|Q6T7X2|Q9NZG2	Silent	SNP	ENST00000332438.4	37	c.750G>T	CCDS11435.1																																																																																				0.731	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1		NM_016602		3	9	1	0	0.004672	0.004672	0.00472863	3	9		
PIP5K1C	23396	broad.mit.edu	37	19	3642935	3642935	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:3642935C>T	ENST00000335312.3	-	14	1740	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	PIP5K1C_ENST00000539785.1_Missense_Mutation_p.R551Q|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.R551Q|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.R551Q	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	551					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.R551L(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CTGTGTGCGCCGCCTGCAGAG	0.637																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	uc002lyj.1		NaN																	1	Substitution - Missense(1)		kidney(1)	stomach(2)|skin(2)	4						c.(1651-1653)CGG>CAG		phosphatidylinositol-4-phosphate 5-kinase, type							92.0	102.0	99.0					19																	3642935		2203	4300	6503	SO:0001583	missense	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3642935C>T	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1652G>A	19.37:g.3642935C>T	ENSP00000335333:p.Arg551Gln					PIP5K1C_uc010xhq.1_Missense_Mutation_p.R551Q|PIP5K1C_uc010xhr.1_Missense_Mutation_p.R551Q	p.R551Q	NM_012398	NP_036530	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	14	1709	-		Hepatocellular(1079;0.137)	551					B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	c.1652G>A	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870033	0.91587	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.32988	1.48;1.51;1.43	4.66	4.66	0.58398	.	0.144197	0.43919	U	0.000507	T	0.46386	0.1390	L	0.48642	1.525	0.45704	D	0.99861	D;D	0.89917	1.0;0.999	D;P	0.66196	0.942;0.801	T	0.28106	-1.0054	10	0.30078	T	0.28	-24.1159	16.5222	0.84320	0.0:1.0:0.0:0.0	.	551;551	O60331-3;O60331	.;PI51C_HUMAN	Q	551	ENSP00000335333:R551Q;ENSP00000445992:R551Q;ENSP00000444779:R551Q	ENSP00000335333:R551Q	R	-	2	0	PIP5K1C	3593935	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	6.413000	0.73308	2.131000	0.65755	0.555000	0.69702	CGG		0.637	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2		NM_012398		11	80	0	0	0	0.010729	0	11	80		
ANGPTL4	51129	broad.mit.edu	37	19	8429403	8429403	+	Silent	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:8429403G>C	ENST00000301455.2	+	1	369	c.198G>C	c.(196-198)ctG>ctC	p.L66L	ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Silent_p.L66L	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	66				LREHAERTRSQLSALER -> CANTGAHPQSAERAGA (in Ref. 5; AAD41088). {ECO:0000305}.	angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GCAGTCAGCTGAGCGCGCTGG	0.716																																						uc002mjq.1		NaN																	0				ovary(1)	1						c.(196-198)CTG>CTC		angiopoietin-like 4 protein isoform a precursor							7.0	6.0	6.0					19																	8429403		2116	4114	6230	SO:0001819	synonymous_variant	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8429403G>C	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.198G>C	19.37:g.8429403G>C						ANGPTL4_uc002mjr.1_Silent_p.L66L|ANGPTL4_uc010xkc.1_5'UTR	p.L66L	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN			1	393	+			66	LREHAERTRSQLSALER -> CANTGAHPQSAERAGA (in Ref. 5; AAD41088).				A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Silent	SNP	ENST00000301455.2	37	c.198G>C	CCDS12200.1																																																																																				0.716	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1		NM_139314		3	5	0	0	0	0.004672	0	3	5		
MUC16	94025	broad.mit.edu	37	19	9087678	9087678	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:9087678C>T	ENST00000397910.4	-	1	4340	c.4137G>A	c.(4135-4137)ccG>ccA	p.P1379P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1379	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTTGTGGCCGGACTGGTGA	0.458																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(4135-4137)CCG>CCA		mucin 16							155.0	158.0	157.0					19																	9087678		2188	4285	6473	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087678C>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.4137G>A	19.37:g.9087678C>T							p.P1379P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	4341	-			1379			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.4137G>A	CCDS54212.1																																																																																				0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		6	86	0	0	0	0.021553	0	6	86		
USHBP1	83878	broad.mit.edu	37	19	17367354	17367354	+	Silent	SNP	G	G	A	rs141680124	byFrequency	TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:17367354G>A	ENST00000252597.3	-	9	1569	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L	USHBP1_ENST00000431146.2_Silent_p.L402L|AC010646.3_ENST00000594059.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TGGGTCCCCAGAATGGCCTGC	0.612													G|||	21	0.00419329	0.0	0.013	5008	,	,		18612	0.0		0.007	False		,,,				2504	0.0051					uc002nfs.1		NaN																	0				ovary(1)	1						c.(1396-1398)CTG>TTG		Usher syndrome 1C binding protein 1		G		11,4395	19.1+/-41.9	0,11,2192	74.0	77.0	76.0		1396	3.8	1.0	19	dbSNP_134	76	96,8504	51.9+/-112.3	0,96,4204	no	coding-synonymous	USHBP1	NM_031941.3		0,107,6396	AA,AG,GG		1.1163,0.2497,0.8227		466/704	17367354	107,12899	2203	4300	6503	SO:0001819	synonymous_variant	83878						PDZ domain binding	g.chr19:17367354G>A	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1396C>T	19.37:g.17367354G>A						USHBP1_uc002nfr.1_Silent_p.L92L|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Silent_p.L402L	p.L466L	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			9	1509	-			466						Silent	SNP	ENST00000252597.3	37	c.1396C>T	CCDS12353.1																																																																																				0.612	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1		NM_031941		21	85	0	0	0	0.008871	0	21	85		
LRFN1	57622	broad.mit.edu	37	19	39805227	39805227	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:39805227G>A	ENST00000248668.4	-	1	749	c.750C>T	c.(748-750)ggC>ggT	p.G250G	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	250						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGGGGTTGCCGCCGAAGCTGA	0.697																																						uc002okw.2		NaN																	0				ovary(2)	2						c.(748-750)GGC>GGT		leucine rich repeat and fibronectin type III							18.0	22.0	20.0					19																	39805227		2167	4284	6451	SO:0001819	synonymous_variant	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39805227G>A	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.750C>T	19.37:g.39805227G>A							p.G250G	NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	750	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		250			Extracellular (Potential).		Q8TBS9	Silent	SNP	ENST00000248668.4	37	c.750C>T	CCDS46071.1																																																																																				0.697	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1		NM_020862		3	10	0	0	0	0.004672	0	3	10		
PRX	57716	broad.mit.edu	37	19	40902543	40902543	+	Silent	SNP	C	C	T	rs184025564		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:40902543C>T	ENST00000324001.7	-	7	1986	c.1716G>A	c.(1714-1716)gtG>gtA	p.V572V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	572	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCGGCAGCTGCACCTCTGGAA	0.552																																						uc002onr.2		NaN																	0				ovary(2)	2						c.(1714-1716)GTG>GTA		periaxin isoform 2							93.0	108.0	103.0					19																	40902543		2198	4293	6491	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902543C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1716G>A	19.37:g.40902543C>T						PRX_uc002onq.2_Silent_p.V433V|PRX_uc002ons.2_3'UTR	p.V572V	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1985	-			572			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].|22.		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.1716G>A	CCDS33028.1																																																																																				0.552	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956		13	225	0	0	0	0.016723	0	13	225		
AXL	558	broad.mit.edu	37	19	41745178	41745178	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:41745178G>C	ENST00000301178.4	+	9	1434	c.1244G>C	c.(1243-1245)gGa>gCa	p.G415A	AXL_ENST00000593513.1_Missense_Mutation_p.G147A|AXL_ENST00000359092.3_Missense_Mutation_p.G415A	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	415	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCTGGGGATGGACCCTGGAGC	0.617																																						uc010ehj.2		NaN																	0				lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						c.(1243-1245)GGA>GCA		AXL receptor tyrosine kinase isoform 1							121.0	104.0	110.0					19																	41745178		2203	4299	6502	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41745178G>C	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1244G>C	19.37:g.41745178G>C	ENSP00000301178:p.Gly415Ala					CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.G415A|AXL_uc010ehk.2_Missense_Mutation_p.G415A	p.G415A	NM_021913	NP_068713	P30530	UFO_HUMAN			9	1434	+			415			Extracellular (Potential).|Fibronectin type-III 2.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.1244G>C	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	g	19.40	3.820988	0.71028	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.62941	-0.01;-0.01	4.31	4.31	0.51392	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.135520	0.48767	D	0.000172	T	0.78444	0.4284	M	0.92268	3.29	0.49687	D	0.999814	P;P	0.47191	0.867;0.891	P;P	0.51079	0.527;0.658	D	0.85137	0.0978	10	0.72032	D	0.01	-8.2624	15.6237	0.76833	0.0:0.0:1.0:0.0	.	415;415	P30530-2;P30530	.;UFO_HUMAN	A	415	ENSP00000301178:G415A;ENSP00000351995:G415A	ENSP00000301178:G415A	G	+	2	0	AXL	46437018	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	6.050000	0.71063	1.967000	0.57214	0.386000	0.25728	GGA		0.617	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2				19	55	0	0	0	0.008871	0	19	55		
PSG9	5678	broad.mit.edu	37	19	43763021	43763021	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:43763021G>A	ENST00000270077.3	-	4	1072	c.976C>T	c.(976-978)Cta>Tta	p.L326L	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Silent_p.L233L|PSG9_ENST00000418820.2_Silent_p.L233L	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	326	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGGACATTTAGGATGACTGGG	0.507																																						uc002owd.3		NaN																	0				ovary(1)|skin(1)	2						c.(976-978)CTA>TTA		pregnancy specific beta-1-glycoprotein 9							95.0	99.0	98.0					19																	43763021		2133	4279	6412	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43763021G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.976C>T	19.37:g.43763021G>A						PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Silent_p.L233L|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron	p.L326L	NM_002784	NP_002775	Q00887	PSG9_HUMAN			4	1075	-		Prostate(69;0.00682)	326			Ig-like C2-type 2.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.976C>T	CCDS12618.1																																																																																				0.507	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1		NM_002784		11	140	0	0	0	0.008291	0	11	140		
STRN4	29888	broad.mit.edu	37	19	47236403	47236403	+	Silent	SNP	G	G	A	rs146403716		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:47236403G>A	ENST00000263280.6	-	5	679	c.630C>T	c.(628-630)aaC>aaT	p.N210N	STRN4_ENST00000539396.1_Silent_p.N91N|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000391910.3_Silent_p.N210N	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	210						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCACTGCCCCGTTGAGCTCCA	0.662																																						uc002pfl.2		NaN																	0					0						c.(628-630)AAC>AAT		zinedin isoform 1		G	,	0,4406		0,0,2203	45.0	41.0	42.0		630,630	-4.9	1.0	19	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	STRN4	NM_001039877.1,NM_013403.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	210/761,210/754	47236403	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47236403G>A	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.630C>T	19.37:g.47236403G>A						STRN4_uc002pfm.2_Silent_p.N210N|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	p.N210N	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	5	663	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	210					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Silent	SNP	ENST00000263280.6	37	c.630C>T	CCDS12690.1																																																																																				0.662	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2				7	34	0	0	0	0.001984	0	7	34		
DHDH	27294	broad.mit.edu	37	19	49442919	49442919	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:49442919C>G	ENST00000221403.2	+	4	620	c.580C>G	c.(580-582)Cca>Gca	p.P194A	DHDH_ENST00000522614.1_Missense_Mutation_p.P194A|DHDH_ENST00000523250.1_Intron	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	194					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		AGGGCAGAAGCCAGAGAAGAT	0.562																																						uc002ple.1		NaN																	0					0						c.(580-582)CCA>GCA		dimeric dihydrodiol dehydrogenase							97.0	100.0	99.0					19																	49442919		2203	4300	6503	SO:0001583	missense	27294				carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr19:49442919C>G	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.580C>G	19.37:g.49442919C>G	ENSP00000221403:p.Pro194Ala						p.P194A	NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)	4	620	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	194						Missense_Mutation	SNP	ENST00000221403.2	37	c.580C>G	CCDS12741.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275428	0.80580	.	.	ENSG00000104808	ENST00000221403;ENST00000522614	T;T	0.35048	1.33;1.33	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	M	0.86740	2.835	0.80722	D	1	D	0.63880	0.993	P	0.58820	0.846	T	0.67452	-0.5667	10	0.62326	D	0.03	-10.3118	16.4609	0.84044	0.0:1.0:0.0:0.0	.	194	Q9UQ10	DHDH_HUMAN	A	194	ENSP00000221403:P194A;ENSP00000428672:P194A	ENSP00000221403:P194A	P	+	1	0	DHDH	54134731	1.000000	0.71417	0.985000	0.45067	0.856000	0.48823	6.406000	0.73276	2.838000	0.97847	0.561000	0.74099	CCA		0.562	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1		NM_014475		7	102	0	0	0	0.004482	0	7	102		
ZNF615	284370	broad.mit.edu	37	19	52497324	52497324	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:52497324C>T	ENST00000602063.1	-	6	1354	c.1005G>A	c.(1003-1005)caG>caA	p.Q335Q	ZNF615_ENST00000598071.1_Silent_p.Q346Q|ZNF615_ENST00000391795.3_Silent_p.Q340Q|ZNF615_ENST00000594083.1_Silent_p.Q346Q|ZNF615_ENST00000376716.5_Silent_p.Q335Q			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TATGAGTTTTCTGATGTGTAG	0.423																																						uc002pye.1		NaN																	0				ovary(4)|skin(1)	5						c.(1003-1005)CAG>CAA		zinc finger protein 615							94.0	97.0	96.0					19																	52497324		2203	4300	6503	SO:0001819	synonymous_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497324C>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1005G>A	19.37:g.52497324C>T						ZNF615_uc002pyf.1_Silent_p.Q346Q|ZNF615_uc002pyg.1_Silent_p.Q227Q|ZNF615_uc002pyh.1_Silent_p.Q346Q|ZNF615_uc010epi.1_Silent_p.Q342Q|ZNF615_uc010ydg.1_Silent_p.Q340Q	p.Q335Q	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1297	-		all_neural(266;0.117)	335			C2H2-type 5.		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	c.1005G>A	CCDS12846.1																																																																																				0.423	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1		NM_198480		33	101	0	0	0	0.009535	0	33	101		
PPP6R1	22870	broad.mit.edu	37	19	55758399	55758399	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:55758399G>A	ENST00000412770.2	-	2	639	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	PPP6R1_ENST00000587283.1_Missense_Mutation_p.P25S	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	25	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						AGCAGCTCGGGCAGGCTCAGG	0.612																																						uc002qjw.3		NaN																	0					0						c.(73-75)CCC>TCC		SAPS domain family, member 1							74.0	80.0	78.0					19																	55758399		2160	4268	6428	SO:0001583	missense	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55758399G>A	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.73C>T	19.37:g.55758399G>A	ENSP00000414202:p.Pro25Ser					SAPS1_uc002qjv.2_Missense_Mutation_p.P87S	p.P25S	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	2	315	-		Renal(1328;0.245)	25			Interaction with PPP6C.		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	c.73C>T	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	G	8.337	0.827827	0.16749	.	.	ENSG00000105063	ENST00000444538;ENST00000412770	T	0.40476	1.03	4.73	1.07	0.20283	.	0.467646	0.19644	N	0.109370	T	0.10766	0.0263	N	0.00707	-1.245	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.17289	-1.0374	10	0.48119	T	0.1	-14.5491	1.2865	0.02052	0.1505:0.1667:0.3407:0.342	.	25	Q9UPN7	PP6R1_HUMAN	S	25	ENSP00000414202:P25S	ENSP00000414202:P25S	P	-	1	0	PPP6R1	60450211	0.030000	0.19436	0.481000	0.27354	0.942000	0.58702	1.493000	0.35605	0.678000	0.31325	0.561000	0.74099	CCC		0.612	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1		NM_014931		7	101	0	0	0	0.001984	0	7	101		
DYNC2LI1	51626	broad.mit.edu	37	2	44023913	44023913	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:44023913T>G	ENST00000260605.8	+	8	733	c.633T>G	c.(631-633)caT>caG	p.H211Q	DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.H212Q|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.H85Q	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	211					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTGTTGCACATTATTATGGAG	0.353																																						uc002rtk.2		NaN																	0				ovary(1)	1						c.(631-633)CAT>CAG		dynein 2 light intermediate chain isoform 1							165.0	151.0	156.0					2																	44023913		2203	4300	6503	SO:0001583	missense	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44023913T>G		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.633T>G	2.37:g.44023913T>G	ENSP00000260605:p.His211Gln					DYNC2LI1_uc002rtj.2_Missense_Mutation_p.H211Q|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.H212Q|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.H85Q	p.H211Q	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN			8	729	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	211					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	c.633T>G	CCDS1813.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.80|17.80	3.478756|3.478756	0.63849|0.63849	.|.	.|.	ENSG00000138036|ENSG00000138036	ENST00000260605;ENST00000443170|ENST00000378587	T;T|.	0.25085|.	1.82;1.82|.	5.02|5.02	2.61|2.61	0.31194|0.31194	.|.	0.092810|.	0.85682|.	D|.	0.000000|.	T|T	0.76047|0.76047	0.3933|0.3933	M|M	0.89287|0.89287	3.02|3.02	0.52501|0.52501	D|D	0.999955|0.999955	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.83275|.	0.992;0.983;0.996|.	T|T	0.77547|0.77547	-0.2547|-0.2547	10|5	0.33141|.	T|.	0.24|.	-20.8952|-20.8952	9.4052|9.4052	0.38457|0.38457	0.0:0.2132:0.0:0.7868|0.0:0.2132:0.0:0.7868	.|.	212;211;211|.	Q8TCX1-2;Q8TCX1;Q8TCX1-3|.	.;DC2L1_HUMAN;.|.	Q|S	211;85|195	ENSP00000260605:H211Q;ENSP00000388941:H85Q|.	ENSP00000260605:H211Q|.	H|I	+|+	3|2	2|0	DYNC2LI1|DYNC2LI1	43877417|43877417	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.200000|1.200000	0.32247|0.32247	0.946000|0.946000	0.37632|0.37632	0.528000|0.528000	0.53228|0.53228	CAT|ATT		0.353	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2		NM_016008		15	59	0	0	0	0.00499	0	15	59		
SMYD5	10322	broad.mit.edu	37	2	73446021	73446021	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:73446021G>A	ENST00000389501.4	+	2	174	c.129G>A	c.(127-129)cgG>cgA	p.R43R	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	43	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						AGCTCATCCGGAAGGGGGAGA	0.542																																						uc002siw.2		NaN																	0					0						c.(127-129)CGG>CGA		SMYD family member 5							93.0	93.0	93.0					2																	73446021		1971	4150	6121	SO:0001819	synonymous_variant	10322						metal ion binding	g.chr2:73446021G>A	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.129G>A	2.37:g.73446021G>A						SMYD5_uc010yre.1_5'UTR	p.R43R	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN			2	158	+			43					D6W5H3|Q13558	Silent	SNP	ENST00000389501.4	37	c.129G>A	CCDS33221.2																																																																																				0.542	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1		NM_006062		10	42	0	0	0	0.008291	0	10	42		
ST6GAL2	84620	broad.mit.edu	37	2	107446656	107446656	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:107446656A>C	ENST00000409382.3	-	5	1794	c.1184T>G	c.(1183-1185)aTt>aGt	p.I395S	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.I395S|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.I395S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	395					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)			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						ACGATGCTGAATATATGGAGT	0.368																																						uc002tdq.2		NaN																	0				pancreas(6)|ovary(4)|skin(1)	11						c.(1183-1185)ATT>AGT		ST6 beta-galactosamide							157.0	151.0	153.0					2																	107446656		2203	4300	6503	SO:0001583	missense	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.chr2:107446656A>C	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.1184T>G	2.37:g.107446656A>C	ENSP00000386942:p.Ile395Ser					ST6GAL2_uc002tdr.2_Missense_Mutation_p.I395S|ST6GAL2_uc002tds.3_Missense_Mutation_p.I395S	p.I395S	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			5	1303	-			395			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.1184T>G	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.494010	0.44352	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.79749	-1.3;-1.3;-1.3	6.06	6.06	0.98353	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.461885	0.26355	N	0.024853	T	0.76800	0.4038	L	0.47716	1.5	0.31942	N	0.610751	P;B	0.44429	0.835;0.033	P;B	0.44518	0.452;0.11	T	0.80009	-0.1562	10	0.33141	T	0.24	-10.0423	10.9489	0.47317	0.8605:0.0:0.0:0.1395	.	395;395	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	S	395	ENSP00000355273:I395S;ENSP00000386942:I395S;ENSP00000387332:I395S	ENSP00000355273:I395S	I	-	2	0	ST6GAL2	106813088	0.997000	0.39634	0.989000	0.46669	0.995000	0.86356	6.127000	0.71642	2.324000	0.78689	0.533000	0.62120	ATT		0.368	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1		NM_032528		20	86	0	0	0	0.008871	0	20	86		
RANBP2	5903	broad.mit.edu	37	2	109400167	109400167	+	Missense_Mutation	SNP	A	A	G	rs141352150		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:109400167A>G	ENST00000283195.6	+	29	9611	c.9485A>G	c.(9484-9486)aAt>aGt	p.N3162S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3162	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				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)		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						TCCATGGCCAATCAAGGCCAG	0.368																																						uc002tem.3		NaN																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(9484-9486)AAT>AGT		RAN binding protein 2		A	SER/ASN	0,4406		0,0,2203	128.0	127.0	128.0		9485	4.3	0.8	2	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	missense	RANBP2	NM_006267.4	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	3162/3225	109400167	1,13005	2203	4300	6503	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.chr2:109400167A>G	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.9485A>G	2.37:g.109400167A>G	ENSP00000283195:p.Asn3162Ser						p.N3162S	NM_006267	NP_006258	P49792	RBP2_HUMAN			29	9611	+			3162			PPIase cyclophilin-type.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.9485A>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.961361	0.34565	0.0	1.16E-4	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.51071	0.72	5.43	4.28	0.50868	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	.	.	.	.	T	0.62502	0.2433	H	0.95470	3.675	0.33019	D	0.528638	P	0.51147	0.942	B	0.43331	0.416	T	0.79325	-0.1850	9	0.87932	D	0	-32.7172	11.3566	0.49620	0.9286:0.0:0.0714:0.0	.	3162	P49792	RBP2_HUMAN	S	2186;3162	ENSP00000283195:N3162S	ENSP00000283195:N3162S	N	+	2	0	RANBP2	108766599	1.000000	0.71417	0.757000	0.31301	0.015000	0.08874	6.283000	0.72646	1.012000	0.39366	0.533000	0.62120	AAT		0.368	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267		10	88	0	0	0	0.010729	0	10	88		
PSD4	23550	broad.mit.edu	37	2	113940254	113940254	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:113940254A>G	ENST00000245796.6	+	2	416	c.221A>G	c.(220-222)cAc>cGc	p.H74R	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.3_Missense_Mutation_p.H74R	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	74					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGCTCACACACCTGGGGAGC	0.617																																						uc002tjc.2		NaN																	0				ovary(2)	2						c.(220-222)CAC>CGC		pleckstrin and Sec7 domain containing 4							51.0	51.0	51.0					2																	113940254		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940254A>G	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.221A>G	2.37:g.113940254A>G	ENSP00000245796:p.His74Arg					PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.H73R|PSD4_uc002tjf.2_5'Flank	p.H74R	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			2	404	+			74					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.221A>G	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.439653	0.25900	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.09163	3.02;3.01	1.68	-0.0256	0.13934	.	.	.	.	.	T	0.04363	0.0120	N	0.14661	0.345	0.09310	N	0.999999	P;P	0.50710	0.938;0.898	B;B	0.34931	0.192;0.094	T	0.37731	-0.9693	9	0.87932	D	0	.	3.7959	0.08738	0.601:0.3989:0.0:0.0	.	74;74	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	R	74	ENSP00000245796:H74R;ENSP00000413997:H74R	ENSP00000245796:H74R	H	+	2	0	PSD4	113656725	0.020000	0.18652	0.011000	0.14972	0.313000	0.28021	0.058000	0.14301	0.688000	0.31529	0.172000	0.16884	CAC		0.617	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1		NM_012455		5	41	0	0	0	0.014758	0	5	41		
XIRP2	129446	broad.mit.edu	37	2	168101824	168101824	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:168101824G>A	ENST00000409195.1	+	9	4011	c.3922G>A	c.(3922-3924)Gat>Aat	p.D1308N	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1308N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1086N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1133					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATACAGGGTGATGTAAAAAG	0.368																																						uc002udx.2		NaN																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(3922-3924)GAT>AAT		xin actin-binding repeat containing 2 isoform 1							74.0	69.0	71.0					2																	168101824		1852	4101	5953	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101824G>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.3922G>A	2.37:g.168101824G>A	ENSP00000386840:p.Asp1308Asn					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D1133N|XIRP2_uc010fpq.2_Missense_Mutation_p.D1086N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.D1308N	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	3940	+			1133			Xin 22.		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.3922G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300935	0.40694	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.61158	0.13;0.13;0.13	5.78	3.89	0.44902	.	0.051018	0.85682	D	0.000000	T	0.65428	0.2690	L	0.55481	1.735	0.54753	D	0.999989	D;P;P	0.89917	1.0;0.457;0.457	D;B;B	0.73708	0.981;0.204;0.204	T	0.62115	-0.6922	10	0.27785	T	0.31	-14.904	7.7352	0.28810	0.1441:0.0:0.7207:0.1351	.	1133;1133;1086	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	1308;1308;1086	ENSP00000386840:D1308N;ENSP00000295237:D1308N;ENSP00000387255:D1086N	ENSP00000295237:D1308N	D	+	1	0	XIRP2	167810070	0.993000	0.37304	1.000000	0.80357	0.714000	0.41099	2.219000	0.42899	1.466000	0.48025	-0.251000	0.11542	GAT		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		14	73	0	0	0	0.016723	0	14	73		
TTN	7273	broad.mit.edu	37	2	179542881	179542881	+	Missense_Mutation	SNP	G	G	A	rs539800132	byFrequency	TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:179542881G>A	ENST00000591111.1	-	143	33238	c.33014C>T	c.(33013-33015)cCg>cTg	p.P11005L	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P11322L|TTN_ENST00000342992.6_Missense_Mutation_p.P10078L|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10151	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P10078L(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)			CACTTTTTTCGGAACAGGTGT	0.358													G|||	2	0.000399361	0.0	0.0	5008	,	,		16675	0.0		0.0	False		,,,				2504	0.002					uc010zfg.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	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.(30232-30234)CCG>CTG		titin isoform N2-A							182.0	168.0	172.0					2																	179542881		1840	4099	5939	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542881G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33014C>T	2.37:g.179542881G>A	ENSP00000465570:p.Pro11005Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6739L|TTN_uc010fre.1_Missense_Mutation_p.P735L|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	p.P10078L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		142	30457	-			11005					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.30233C>T		.	.	.	.	.	.	.	.	.	.	G	14.25	2.479357	0.44044	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.70749	-0.51	5.8	-2.63	0.06133	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.56001	0.1956	L	0.45352	1.415	0.36563	D	0.872538	B;B	0.10296	0.0;0.003	B;B	0.08055	0.001;0.003	T	0.32771	-0.9894	9	0.87932	D	0	.	5.3903	0.16240	0.4164:0.2475:0.3361:0.0	.	11005;10551	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	L	10078;746	ENSP00000343764:P10078L	ENSP00000343764:P10078L	P	-	2	0	TTN	179251126	0.000000	0.05858	0.318000	0.25279	0.832000	0.47134	0.094000	0.15107	-0.936000	0.03723	-0.145000	0.13849	CCG		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		7	79	0	0	0	0.004482	0	7	79		
CYP20A1	57404	broad.mit.edu	37	2	204144831	204144831	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:204144831C>A	ENST00000356079.4	+	8	968	c.845C>A	c.(844-846)gCa>gAa	p.A282E	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.A290E	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	282						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						ATAATAACTGCAAAATGTAAG	0.363																																						uc002uzv.3		NaN																	0					0						c.(844-846)GCA>GAA		cytochrome P450, family 20, subfamily A,							73.0	71.0	71.0					2																	204144831		2202	4298	6500	SO:0001583	missense	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204144831C>A	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.845C>A	2.37:g.204144831C>A	ENSP00000348380:p.Ala282Glu					CYP20A1_uc002uzx.3_Missense_Mutation_p.A180E|CYP20A1_uc010zif.1_Missense_Mutation_p.A290E|CYP20A1_uc002uzy.3_Missense_Mutation_p.A180E|CYP20A1_uc002uzw.3_RNA|CYP20A1_uc010ftw.2_Missense_Mutation_p.A12E	p.A282E	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN			8	1467	+			282					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	c.845C>A	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855585	0.91355	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	T;T;T	0.72167	-0.63;-0.63;1.22	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.84316	0.5445	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77004	0.978;0.989	D	0.84585	0.0663	10	0.66056	D	0.02	-17.4313	19.7681	0.96350	0.0:1.0:0.0:0.0	.	290;282	E9PHG5;Q6UW02	.;CP20A_HUMAN	E	282;255;290;217	ENSP00000348380:A282E;ENSP00000407860:A290E;ENSP00000411341:A217E	ENSP00000348380:A282E	A	+	2	0	CYP20A1	203853076	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.914000	0.69964	2.768000	0.95171	0.655000	0.94253	GCA		0.363	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3		NM_020674		8	20	1	0	5.68852e-11	0.004482	6.24989e-11	8	20		
VIL1	7429	broad.mit.edu	37	2	219292748	219292748	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:219292748C>T	ENST00000248444.5	+	5	496	c.408C>T	c.(406-408)gtC>gtT	p.V136V	VIL1_ENST00000440053.1_Silent_p.V136V|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	136	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTATGACGTCCAGAGGCTGC	0.622																																						uc002via.2		NaN																	0				ovary(1)	1						c.(406-408)GTC>GTT		villin 1							132.0	129.0	130.0					2																	219292748		2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219292748C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.408C>T	2.37:g.219292748C>T						VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Silent_p.V136V|VIL1_uc002vic.1_Silent_p.V136V	p.V136V	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	473	+		Renal(207;0.0474)	136			Core.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.408C>T	CCDS2417.1																																																																																				0.622	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3		NM_007127		19	146	0	0	0	0.014323	0	19	146		
PAX3	5077	broad.mit.edu	37	2	223096999	223096999	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:223096999G>A	ENST00000350526.4	-	5	726	c.590C>T	c.(589-591)tCa>tTa	p.S197L	PAX3_ENST00000409551.3_Missense_Mutation_p.S196L|PAX3_ENST00000344493.4_Missense_Mutation_p.S197L|PAX3_ENST00000392069.2_Missense_Mutation_p.S197L|PAX3_ENST00000336840.6_Missense_Mutation_p.S197L|PAX3_ENST00000392070.2_Missense_Mutation_p.S197L	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	197					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGGGTGCTGAGGCTAAAAG	0.413			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.2		NaN		Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	0				soft_tissue(761)|ovary(4)|skin(1)	766						c.(589-591)TCA>TTA		paired box 3 isoform PAX3							86.0	86.0	86.0					2																	223096999		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223096999G>A		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.590C>T	2.37:g.223096999G>A	ENSP00000343052:p.Ser197Leu					PAX3_uc002vmt.1_Missense_Mutation_p.S197L|PAX3_uc002vmy.1_Missense_Mutation_p.S196L|PAX3_uc002vmv.1_Missense_Mutation_p.S197L|PAX3_uc002vmw.1_Missense_Mutation_p.S197L|PAX3_uc002vmx.1_Missense_Mutation_p.S197L	p.S197L	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	956	-		Renal(207;0.0183)	197					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.590C>T	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616810	0.46736	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551	D;D;D;D;D;D	0.94793	-3.5;-3.5;-3.49;-3.47;-3.52;-3.48	5.57	5.57	0.84162	.	0.722517	0.12437	N	0.469028	D	0.94634	0.8270	M	0.81497	2.545	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.0;0.001;0.002;0.002	D	0.90508	0.4479	10	0.22706	T	0.39	.	19.5583	0.95363	0.0:0.0:1.0:0.0	.	197;196;197;197;197	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	L	197;197;197;197;197;196	ENSP00000375921:S197L;ENSP00000342092:S197L;ENSP00000343052:S197L;ENSP00000375922:S197L;ENSP00000338767:S197L;ENSP00000386750:S196L	ENSP00000338767:S197L	S	-	2	0	PAX3	222805243	1.000000	0.71417	0.994000	0.49952	0.363000	0.29612	5.337000	0.65941	2.616000	0.88540	0.557000	0.71058	TCA		0.413	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1				10	92	0	0	0	0.006214	0	10	92		
NYAP2	57624	broad.mit.edu	37	2	226447640	226447640	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:226447640C>T	ENST00000272907.6	+	4	1920	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	503					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGGTGGCTCCCGGTCCCGGAC	0.687																																						uc002voe.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1507-1509)CGG>TGG		hypothetical protein LOC57624							16.0	21.0	19.0					2																	226447640		1907	4114	6021	SO:0001583	missense	57624							g.chr2:226447640C>T	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.1507C>T	2.37:g.226447640C>T	ENSP00000272907:p.Arg503Trp					KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.R273W	p.R503W	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	1682	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	503					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1507C>T	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842515	0.32606	.	.	ENSG00000144460	ENST00000272907	T	0.35048	1.33	5.63	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.52946	-0.8507	10	0.72032	D	0.01	-12.758	14.6293	0.68645	0.2644:0.7356:0.0:0.0	.	17;503	Q9P242-3;Q9P242	.;K1486_HUMAN	W	503	ENSP00000272907:R503W	ENSP00000272907:R503W	R	+	1	2	KIAA1486	226155884	0.008000	0.16893	0.338000	0.25549	0.064000	0.16182	1.115000	0.31209	0.669000	0.31146	0.655000	0.94253	CGG		0.687	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1		NM_020864		6	24	0	0	0	0.001984	0	6	24		
COL6A3	1293	broad.mit.edu	37	2	238296565	238296565	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:238296565G>A	ENST00000295550.4	-	4	1424	c.972C>T	c.(970-972)ctC>ctT	p.L324L	COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000353578.4_Silent_p.L118L|COL6A3_ENST00000392004.3_Silent_p.L118L|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Silent_p.L324L|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000409809.1_Silent_p.L118L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	324	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)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AATCAAGGGCGAGGCCGATAT	0.617																																						uc002vwl.2		NaN																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(970-972)CTC>CTT		alpha 3 type VI collagen isoform 1 precursor							41.0	41.0	41.0					2																	238296565		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238296565G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.972C>T	2.37:g.238296565G>A						COL6A3_uc002vwo.2_Silent_p.L118L|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Silent_p.L118L|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.L324L	p.L324L	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	4	1257	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	324			VWFA 2.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.972C>T	CCDS33412.1																																																																																				0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369		7	41	0	0	0	0.001984	0	7	41		
ASXL1	171023	broad.mit.edu	37	20	31021672	31021672	+	Silent	SNP	C	C	G	rs372630902		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr20:31021672C>G	ENST00000375687.4	+	12	2095	c.1671C>G	c.(1669-1671)acC>acG	p.T557T	ASXL1_ENST00000306058.5_Silent_p.T552T	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	557	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTGTTCACACCGAAAAGCCAC	0.537			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NaN		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		0				haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(1669-1671)ACC>ACG		additional sex combs like 1 isoform 1							67.0	74.0	72.0					20																	31021672		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021672C>G	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1671C>G	20.37:g.31021672C>G						ASXL1_uc010geb.2_Silent_p.T448T	p.T557T	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			11	2097	+			557					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.1671C>G	CCDS13201.1																																																																																				0.537	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2		NM_015338		24	128	0	0	0	0.01892	0	24	128		
ARFGEF2	10564	broad.mit.edu	37	20	47639592	47639592	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr20:47639592G>T	ENST00000371917.4	+	35	4629	c.4629G>T	c.(4627-4629)caG>caT	p.Q1543H		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1543					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACATAGATCAGAAACTGTTTG	0.403																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3		NaN																	0				breast(3)|upper_aerodigestive_tract(1)	4						c.(4627-4629)CAG>CAT		ADP-ribosylation factor guanine							131.0	119.0	123.0					20																	47639592		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47639592G>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.4629G>T	20.37:g.47639592G>T	ENSP00000360985:p.Gln1543His					ARFGEF2_uc010zyf.1_Missense_Mutation_p.Q836H	p.Q1543H	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		35	4781	+			1543					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.4629G>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490757	0.44249	.	.	ENSG00000124198	ENST00000371917	T	0.46063	0.88	5.9	5.9	0.94986	Armadillo-type fold (1);	0.193676	0.46145	D	0.000313	T	0.28928	0.0718	N	0.22421	0.69	0.54753	D	0.999987	B	0.11235	0.004	B	0.11329	0.006	T	0.07558	-1.0766	10	0.26408	T	0.33	.	11.522	0.50558	0.1376:0.0:0.8624:0.0	.	1543	Q9Y6D5	BIG2_HUMAN	H	1543	ENSP00000360985:Q1543H	ENSP00000360985:Q1543H	Q	+	3	2	ARFGEF2	47072999	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.996000	0.57009	2.793000	0.96121	0.563000	0.77884	CAG		0.403	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1		NM_006420		9	120	1	0	3.07112e-06	0.010729	3.1659e-06	9	120		
DGCR8	54487	broad.mit.edu	37	22	20073753	20073753	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr22:20073753G>A	ENST00000351989.3	+	2	696	c.267G>A	c.(265-267)ccG>ccA	p.P89P	MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000383024.2_Silent_p.P89P|MIR1306_ENST00000408439.1_RNA|DGCR8_ENST00000407755.1_Silent_p.P89P	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	89	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TCATAGACCCGAACTGTAGTG	0.567																																						uc002zri.2		NaN																	0					0						c.(265-267)CCG>CCA		DiGeorge syndrome critical region gene 8							52.0	56.0	54.0					22																	20073753		2203	4300	6503	SO:0001819	synonymous_variant	54487				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20073753G>A	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.267G>A	22.37:g.20073753G>A						DGCR8_uc010grz.2_Silent_p.P89P|DGCR8_uc002zrj.2_5'Flank	p.P89P	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN			2	617	+	Colorectal(54;0.0993)		89			Necessary for nuclear localization and retention.|Necessary for interaction with NCL.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Silent	SNP	ENST00000351989.3	37	c.267G>A	CCDS13773.1																																																																																				0.567	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1				9	66	0	0	0	0.008291	0	9	66		
THOC5	8563	broad.mit.edu	37	22	29917075	29917075	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr22:29917075G>C	ENST00000490103.1	-	13	1311	c.1189C>G	c.(1189-1191)Cct>Gct	p.P397A	THOC5_ENST00000397871.1_Missense_Mutation_p.P397A|THOC5_ENST00000397872.1_Missense_Mutation_p.P397A|THOC5_ENST00000397873.2_Missense_Mutation_p.P397A|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	397					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACTGAGTCAGGAGACAGCAAG	0.453																																						uc003afr.2		NaN																	0				breast(3)	3						c.(1189-1191)CCT>GCT		THO complex 5							123.0	125.0	124.0					22																	29917075		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29917075G>C	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1189C>G	22.37:g.29917075G>C	ENSP00000420306:p.Pro397Ala					THOC5_uc003afq.2_Missense_Mutation_p.P58A|THOC5_uc003afs.2_Missense_Mutation_p.P397A|THOC5_uc003aft.2_Missense_Mutation_p.P397A|THOC5_uc003afu.2_Missense_Mutation_p.P397A|THOC5_uc010gvo.2_Missense_Mutation_p.P141A	p.P397A	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN			14	1524	-			397					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1189C>G	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118762	0.56505	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.82	5.82	0.92795	.	0.098710	0.64402	D	0.000001	T	0.31199	0.0789	L	0.35723	1.085	0.53005	D	0.999969	P	0.46859	0.885	P	0.48770	0.589	T	0.00673	-1.1616	10	0.21014	T	0.42	-2.4997	19.6941	0.96016	0.0:0.0:1.0:0.0	.	397	Q13769	THOC5_HUMAN	A	397	ENSP00000420306:P397A;ENSP00000380970:P397A;ENSP00000380969:P397A;ENSP00000380971:P397A	ENSP00000380969:P397A	P	-	1	0	THOC5	28247075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.619000	0.67729	2.752000	0.94435	0.655000	0.94253	CCT		0.453	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1		NM_003678		23	114	0	0	0	0.016522	0	23	114		
DEPDC5	9681	broad.mit.edu	37	22	32242867	32242867	+	Silent	SNP	G	G	A	rs201368629	byFrequency	TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr22:32242867G>A	ENST00000382112.3	+	30	3112	c.3042G>A	c.(3040-3042)acG>acA	p.T1014T	DEPDC5_ENST00000266091.3_Silent_p.T1023T|DEPDC5_ENST00000535622.1_Silent_p.T945T|DEPDC5_ENST00000400249.2_Silent_p.T1014T|DEPDC5_ENST00000400248.2_Silent_p.T1014T|DEPDC5_ENST00000400246.1_Silent_p.T1023T|DEPDC5_ENST00000382105.2_Silent_p.T945T|DEPDC5_ENST00000382111.2_Silent_p.T1023T	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1023					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCATTTCCACGCATTCTCTGG	0.552													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18398	0.001		0.0	False		,,,				2504	0.0					uc003als.2		NaN																	0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(3040-3042)ACG>ACA		DEP domain containing 5 isoform 1							84.0	84.0	84.0					22																	32242867		1983	4150	6133	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32242867G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3042G>A	22.37:g.32242867G>A						DEPDC5_uc011als.1_Silent_p.T945T|DEPDC5_uc011alu.1_Silent_p.T1023T|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.T1014T|DEPDC5_uc003alu.2_Silent_p.T463T|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Silent_p.T344T|DEPDC5_uc003alw.2_Silent_p.T312T|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Silent_p.T18T	p.T1014T	NM_014662	NP_055477	O75140	DEPD5_HUMAN			31	3184	+			1014					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.3042G>A	CCDS46692.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.013	-1.640748	0.00799	.	.	ENSG00000100150	ENST00000433147	.	.	.	5.31	-10.6	0.00265	.	.	.	.	.	T	0.41166	0.1147	.	.	.	0.46823	D	0.999213	.	.	.	.	.	.	T	0.59762	-0.7393	4	.	.	.	.	4.3028	0.10932	0.1444:0.2972:0.3905:0.168	.	.	.	.	T	421	.	.	A	+	1	0	DEPDC5	30572867	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.777000	0.00187	-4.954000	0.00026	-2.780000	0.00118	GCA		0.552	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1		NM_014662		16	53	0	0	0	0.028581	0	16	53		
WBP2NL	164684	broad.mit.edu	37	22	42415340	42415340	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr22:42415340G>A	ENST00000328823.9	+	2	119	c.88G>A	c.(88-90)Gag>Aag	p.E30K	WBP2NL_ENST00000543212.1_5'Flank	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	30					egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TCCGAATGTGGAGCTCTCCTT	0.413																																						uc011ape.1		NaN																	0				ovary(2)	2						c.(88-90)GAG>AAG		WBP2 N-terminal like							144.0	132.0	136.0					22																	42415340		2203	4300	6503	SO:0001583	missense	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42415340G>A	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.88G>A	22.37:g.42415340G>A	ENSP00000332983:p.Glu30Lys					WBP2NL_uc003bbt.2_Missense_Mutation_p.E30K|WBP2NL_uc011apk.1_Intron|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_5'Flank	p.E30K	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN			3	104	+			30					A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	c.88G>A	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940998	0.73557	.	.	ENSG00000183066	ENST00000328823	D	0.87256	-2.23	4.77	1.43	0.22495	GRAM (1);	1.024520	0.07800	N	0.956381	T	0.81336	0.4801	L	0.55990	1.75	0.80722	D	1	B	0.30068	0.267	B	0.28385	0.089	T	0.71866	-0.4463	10	0.41790	T	0.15	-0.2256	2.3675	0.04323	0.1676:0.1533:0.5206:0.1585	.	30	Q6ICG8	WBP2L_HUMAN	K	30	ENSP00000332983:E30K	ENSP00000332983:E30K	E	+	1	0	WBP2NL	40745286	1.000000	0.71417	0.955000	0.39395	0.897000	0.52465	2.495000	0.45337	0.213000	0.20722	0.655000	0.94253	GAG		0.413	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1		NM_152613		6	75	0	0	0	0.00308	0	6	75		
RARB	5915	broad.mit.edu	37	3	25542729	25542729	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:25542729G>C	ENST00000404969.1	+	3	384	c.384G>C	c.(382-384)aaG>aaC	p.K128N	RARB_ENST00000330688.4_Missense_Mutation_p.K121N|RARB_ENST00000437042.2_Missense_Mutation_p.K9N|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.K9N			P10826	RARB_HUMAN	retinoic acid receptor, beta	128					embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACCGAGATAAGAACTGTGTTA	0.393																																						uc011awl.1		NaN																	0				ovary(1)|large_intestine(1)|pancreas(1)	3						c.(382-384)AAG>AAC		retinoic acid receptor, beta isoform 2	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						115.0	116.0	115.0					3																	25542729		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25542729G>C	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.384G>C	3.37:g.25542729G>C	ENSP00000385865:p.Lys128Asn					RARB_uc003cdi.1_Missense_Mutation_p.K9N|RARB_uc003cdh.2_Missense_Mutation_p.K121N	p.K128N	NM_016152	NP_057236	P10826	RARB_HUMAN			3	450	+			128			Nuclear receptor.|NR C4-type.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.384G>C		.	.	.	.	.	.	.	.	.	.	G	22.4	4.287969	0.80803	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38	4.98	4.98	0.66077	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	N	0.22421	0.69	0.58432	D	0.999999	D;D	0.63046	0.992;0.976	D;D	0.70487	0.969;0.948	D	0.97241	0.9891	10	0.87932	D	0	.	13.6105	0.62076	0.0774:0.0:0.9226:0.0	.	128;121	P10826;F1D8S6	RARB_HUMAN;.	N	128;128;128;9;121;9	ENSP00000373282:K128N;ENSP00000385865:K128N;ENSP00000398840:K9N;ENSP00000332296:K121N;ENSP00000391391:K9N	ENSP00000332296:K121N	K	+	3	2	RARB	25517733	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.663000	0.61532	2.286000	0.76751	0.650000	0.86243	AAG		0.393	RARB-201	KNOWN	basic	protein_coding	protein_coding			NM_000965, NM_016152		8	90	0	0	0	0.006214	0	8	90		
OXSM	54995	broad.mit.edu	37	3	25835785	25835785	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:25835785G>A	ENST00000280701.3	+	3	1279	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	OXSM_ENST00000420173.2_Missense_Mutation_p.E311K	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	394					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)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AGGGGCAGTCGAGGCAGCTTT	0.438																																						uc003cdn.2		NaN																	0				ovary(1)|breast(1)	2						c.(1180-1182)GAG>AAG		3-oxoacyl-ACP synthase, mitochondrial isoform 1							100.0	100.0	100.0					3																	25835785		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.chr3:25835785G>A	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.1180G>A	3.37:g.25835785G>A	ENSP00000280701:p.Glu394Lys					OXSM_uc011awp.1_Missense_Mutation_p.E119K|OXSM_uc010hfh.2_Missense_Mutation_p.E311K	p.E394K	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN			3	1287	+			394						Missense_Mutation	SNP	ENST00000280701.3	37	c.1180G>A	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254463	0.95336	.	.	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	0.92672	0.7671	H	0.99903	4.92	0.47441	D	0.999425	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96170	0.9122	9	0.87932	D	0	-18.8581	19.4602	0.94914	0.0:0.0:1.0:0.0	.	311;394	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	K	394;311	.	ENSP00000280701:E394K	E	+	1	0	OXSM	25810789	1.000000	0.71417	0.928000	0.36995	0.773000	0.43773	9.803000	0.99136	2.590000	0.87494	0.655000	0.94253	GAG		0.438	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2		NM_017897		16	88	0	0	0	0.024245	0	16	88		
SLC6A20	54716	broad.mit.edu	37	3	45800507	45800507	+	Missense_Mutation	SNP	C	C	T	rs376448611		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:45800507C>T	ENST00000358525.4	-	11	1857	c.1742G>A	c.(1741-1743)cGt>cAt	p.R581H	SLC6A20_ENST00000456124.2_Intron|SLC6A20_ENST00000353278.4_Missense_Mutation_p.R544H|SLC6A20_ENST00000493980.1_5'Flank	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	581					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTTGAGGCGACGCTGAACAAA	0.602																																						uc011bai.1		NaN																	0				ovary(2)	2						c.(1741-1743)CGT>CAT		solute carrier family 6, member 20 isoform 1							39.0	44.0	42.0					3																	45800507		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45800507C>T	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1742G>A	3.37:g.45800507C>T	ENSP00000346298:p.Arg581His					SLC6A20_uc003cow.2_Missense_Mutation_p.R231H|SLC6A20_uc011baj.1_Missense_Mutation_p.R544H	p.R581H	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	11	1866	-			581			Cytoplasmic (Potential).		A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.1742G>A	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146518	0.37923	.	.	ENSG00000163817	ENST00000353278;ENST00000358525	T;T	0.77098	-1.07;-0.96	5.51	-2.29	0.06805	.	2.349930	0.01678	N	0.025994	T	0.69744	0.3145	L	0.37697	1.125	0.09310	N	1	B;B	0.16802	0.019;0.01	B;B	0.11329	0.004;0.006	T	0.56811	-0.7917	10	0.48119	T	0.1	.	9.8311	0.40941	0.0:0.3712:0.0:0.6288	.	544;581	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	H	544;581	ENSP00000296133:R544H;ENSP00000346298:R581H	ENSP00000296133:R544H	R	-	2	0	SLC6A20	45775511	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.560000	0.05964	-0.301000	0.08882	-0.961000	0.02630	CGT		0.602	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3		NM_020208		13	43	0	0	0	0.013537	0	13	43		
MAP4	4134	broad.mit.edu	37	3	47908773	47908773	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:47908773G>A	ENST00000360240.6	-	15	3547	c.3029C>T	c.(3028-3030)tCc>tTc	p.S1010F	MAP4_ENST00000426837.2_Missense_Mutation_p.S2155F|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.S745F|MAP4_ENST00000395734.3_Missense_Mutation_p.S1010F|MAP4_ENST00000420772.2_Missense_Mutation_p.S703F|MAP4_ENST00000441748.2_Missense_Mutation_p.S124F	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	1010					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	ATTGTCCTTGGAACCACACTT	0.438																																						uc003csb.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(3028-3030)TCC>TTC		microtubule-associated protein 4 isoform 1							191.0	162.0	172.0					3																	47908773		2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47908773G>A		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.3029C>T	3.37:g.47908773G>A	ENSP00000353375:p.Ser1010Phe					MAP4_uc003csc.3_Missense_Mutation_p.S1010F|MAP4_uc003crw.2_Missense_Mutation_p.S89F|MAP4_uc003crx.2_Intron|MAP4_uc011bbe.1_Missense_Mutation_p.S723F|MAP4_uc003cry.2_Missense_Mutation_p.S745F|MAP4_uc003csa.3_Intron|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Missense_Mutation_p.S730F	p.S1010F	NM_002375	NP_002366	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	15	3555	-			1010			Tau/MAP 2.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.3029C>T	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599258	0.87055	.	.	ENSG00000047849	ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000420772;ENST00000335271;ENST00000441748	D;D;D;D;D;D;D	0.99523	-6.08;-6.08;-6.08;-6.08;-6.08;-6.08;-6.08	5.18	5.18	0.71444	.	.	.	.	.	D	0.99622	0.9862	M	0.92026	3.265	0.47994	D	0.999561	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.999	D	0.97864	1.0282	9	0.87932	D	0	-10.9118	17.6972	0.88285	0.0:0.0:1.0:0.0	.	703;730;1010;1010;2155	F8W9U4;P27816-4;P27816-6;P27816;E7EVA0	.;.;.;MAP4_HUMAN;.	F	745;1010;2155;1010;703;338;124	ENSP00000264724:S745F;ENSP00000379083:S1010F;ENSP00000407602:S2155F;ENSP00000353375:S1010F;ENSP00000409731:S703F;ENSP00000334770:S338F;ENSP00000415130:S124F	ENSP00000264724:S745F	S	-	2	0	MAP4	47883777	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.413000	0.81919	0.563000	0.77884	TCC		0.438	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1		NM_002375		13	92	0	0	0	0.016723	0	13	92		
CELSR3	1951	broad.mit.edu	37	3	48694483	48694483	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:48694483G>A	ENST00000164024.4	-	2	4327	c.4047C>T	c.(4045-4047)tcC>tcT	p.S1349S	CELSR3_ENST00000544264.1_Silent_p.S1349S	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1349					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCAGCTCCTCGGAGCTGAACC	0.682																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(4045-4047)TCC>TCT		cadherin EGF LAG seven-pass G-type receptor 3							42.0	46.0	45.0					3																	48694483		2200	4298	6498	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48694483G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.4047C>T	3.37:g.48694483G>A						CELSR3_uc003cuf.1_Silent_p.S1419S	p.S1349S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	2	4328	-			1349			Extracellular (Potential).		O75092	Silent	SNP	ENST00000164024.4	37	c.4047C>T	CCDS2775.1																																																																																				0.682	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		5	40	0	0	0	0.014758	0	5	40		
QARS	5859	broad.mit.edu	37	3	49136834	49136834	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:49136834G>A	ENST00000306125.6	-	17	1894	c.1557C>T	c.(1555-1557)ctC>ctT	p.L519L	QARS_ENST00000414533.1_Silent_p.L508L|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	519					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GCAGGGCCGTGAGTGTAAAGA	0.557																																						uc003cvx.2		NaN																	0				ovary(1)	1						c.(1555-1557)CTC>CTT		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						81.0	86.0	85.0					3																	49136834		2203	4300	6503	SO:0001819	synonymous_variant	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49136834G>A	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1557C>T	3.37:g.49136834G>A						QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Silent_p.L374L|QARS_uc003cvy.2_Silent_p.L374L|QARS_uc011bce.1_Silent_p.L508L	p.L519L	NM_005051	NP_005042	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	17	1562	-			519					B4DWJ2	Silent	SNP	ENST00000306125.6	37	c.1557C>T	CCDS2788.1																																																																																				0.557	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2		NM_005051		10	70	0	0	0	0.006214	0	10	70		
RHOA	387	broad.mit.edu	37	3	49394857	49394857	+	IGR	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:49394857G>T	ENST00000418115.1	-	0	2031				GPX1_ENST00000419349.1_3'UTR|GPX1_ENST00000496791.1_5'Flank|GPX1_ENST00000419783.1_Silent_p.I192I	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCAGGGCTTCGATGTCAGGCT	0.617																																						uc011bcl.1		NaN																	0				large_intestine(1)	1						c.(574-576)ATC>ATA		glutathione peroxidase 1 isoform 1	Glutathione(DB00143)						19.0	20.0	20.0					3																	49394857		1802	3986	5788	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49394857G>T	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49394857G>T						GPX1_uc011bcm.1_3'UTR	p.I192I	NM_000581	NP_000572	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	656	-			192					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Silent	SNP	ENST00000418115.1	37	c.576C>A	CCDS2795.1																																																																																				0.617	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3		NM_001664		7	45	1	0	2.7689e-08	0.001984	2.96414e-08	7	45		
DENND6A	201627	broad.mit.edu	37	3	57658153	57658153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:57658153G>A	ENST00000311128.5	-	2	320	c.250C>T	c.(250-252)Cag>Tag	p.Q84*		NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	84					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TTGGAATGCTGAGGATAAATT	0.318																																						uc003dja.2		NaN																	0				pancreas(1)	1						c.(250-252)CAG>TAG		hypothetical protein LOC201627							47.0	51.0	50.0					3																	57658153		2195	4297	6492	SO:0001587	stop_gained	201627							g.chr3:57658153G>A	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.250C>T	3.37:g.57658153G>A	ENSP00000311401:p.Gln84*						p.Q84*	NM_152678	NP_689891	Q8IWF6	F116A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)	2	321	-			84					Q7Z5T4|Q8N235|Q8TEG8	Nonsense_Mutation	SNP	ENST00000311128.5	37	c.250C>T	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390254	0.82902	.	.	ENSG00000174839	ENST00000311128	.	.	.	5.65	4.74	0.60224	.	0.230603	0.47093	D	0.000255	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-7.6906	16.3392	0.83076	0.0:0.143:0.8569:0.0	.	.	.	.	X	84	.	ENSP00000311401:Q84X	Q	-	1	0	FAM116A	57633193	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.268000	0.65536	2.690000	0.91761	0.479000	0.44913	CAG		0.318	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1		NM_152678		7	57	0	0	0	0.004482	0	7	57		
MRPL3	11222	broad.mit.edu	37	3	131190094	131190094	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:131190094T>C	ENST00000264995.3	-	7	806	c.659A>G	c.(658-660)aAa>aGa	p.K220R	MRPL3_ENST00000425847.2_Missense_Mutation_p.K247R	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	220					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCCCCATCTTTTCATGACACC	0.408																																						uc003eoh.2		NaN																	0					0						c.(658-660)AAA>AGA		mitochondrial ribosomal protein L3							117.0	117.0	117.0					3																	131190094		2203	4299	6502	SO:0001583	missense	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131190094T>C	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.659A>G	3.37:g.131190094T>C	ENSP00000264995:p.Lys220Arg					MRPL3_uc011blo.1_Missense_Mutation_p.K115R|MRPL3_uc011blp.1_Missense_Mutation_p.K247R	p.K220R	NM_007208	NP_009139	P09001	RM03_HUMAN			7	823	-			220					Q6IBT2	Missense_Mutation	SNP	ENST00000264995.3	37	c.659A>G	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.438931	0.83885	.	.	ENSG00000114686	ENST00000264995;ENST00000425847;ENST00000507669	T;T;T	0.57752	0.38;0.38;0.38	5.56	5.56	0.83823	Ribosomal protein L3, conserved site (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.71710	0.3372	M	0.90483	3.12	0.80722	D	1	B;B	0.24721	0.095;0.11	B;B	0.43225	0.412;0.298	T	0.74604	-0.3610	10	0.72032	D	0.01	-17.7285	14.6911	0.69087	0.0:0.0:0.0:1.0	.	247;220	E7ETU7;P09001	.;RM03_HUMAN	R	220;247;115	ENSP00000264995:K220R;ENSP00000398536:K247R;ENSP00000422419:K115R	ENSP00000264995:K220R	K	-	2	0	MRPL3	132672784	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.310000	0.65780	2.113000	0.64589	0.528000	0.53228	AAA		0.408	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3		NM_007208		9	83	0	0	0	0.004482	0	9	83		
DGKG	1608	broad.mit.edu	37	3	186006620	186006620	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:186006620C>T	ENST00000265022.3	-	6	962	c.423G>A	c.(421-423)gcG>gcA	p.A141A	DGKG_ENST00000382164.4_Silent_p.A141A|DGKG_ENST00000344484.4_Silent_p.A141A|DGKG_ENST00000544847.1_Silent_p.A141A	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	141					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCAGGGGGGTCGCAGCCACTT	0.512																																						uc003fqa.2		NaN																	0				breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(421-423)GCG>GCA		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)						121.0	135.0	130.0					3																	186006620		2203	4300	6503	SO:0001819	synonymous_variant	1608				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	g.chr3:186006620C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.423G>A	3.37:g.186006620C>T						DGKG_uc003fqb.2_Silent_p.A141A|DGKG_uc003fqc.2_Silent_p.A141A|DGKG_uc011brx.1_Silent_p.A141A	p.A141A	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	6	960	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		141					B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	c.423G>A	CCDS3274.1																																																																																				0.512	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3				47	180	0	0	0	0.01441	0	47	180		
INPP4B	8821	broad.mit.edu	37	4	143044482	143044482	+	Silent	SNP	C	C	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr4:143044482C>A	ENST00000513000.1	-	21	2413	c.1980G>T	c.(1978-1980)ggG>ggT	p.G660G	INPP4B_ENST00000509777.1_Silent_p.G660G|INPP4B_ENST00000308502.4_Silent_p.G660G|INPP4B_ENST00000262992.4_Silent_p.G660G|INPP4B_ENST00000508116.1_Silent_p.G660G	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	660					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GTACTATCAACCCCACTGTGT	0.363																																						uc003iix.3		NaN																	0				ovary(1)|lung(1)	2						c.(1978-1980)GGG>GGT		inositol polyphosphate-4-phosphatase, type II,							126.0	124.0	125.0					4																	143044482		2203	4300	6503	SO:0001819	synonymous_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143044482C>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1980G>T	4.37:g.143044482C>A						INPP4B_uc003iiw.3_Silent_p.G660G|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.G475G|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.G531G	p.G660G	NM_003866	NP_003857	O15327	INP4B_HUMAN			21	2575	-	all_hematologic(180;0.158)		660					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	c.1980G>T	CCDS3757.1																																																																																				0.363	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1		NM_003866		8	85	1	0	3.09899e-07	0.004482	3.25491e-07	8	85		
DAB2	1601	broad.mit.edu	37	5	39377092	39377092	+	Silent	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr5:39377092A>G	ENST00000320816.6	-	12	2264	c.1797T>C	c.(1795-1797)ttT>ttC	p.F599F	DAB2_ENST00000545653.1_Silent_p.F578F|DAB2_ENST00000339788.6_Silent_p.F381F|DAB2_ENST00000509337.1_Silent_p.F578F	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	599					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CAGGAGCTGGAAAAATATTGC	0.572											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jlx.2		NaN																	0				kidney(2)|skin(1)	3						c.(1795-1797)TTT>TTC		disabled homolog 2							91.0	109.0	103.0					5																	39377092		2203	4300	6503	SO:0001819	synonymous_variant	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39377092A>G	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1797T>C	5.37:g.39377092A>G			OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	DAB2_uc003jlw.2_Silent_p.F578F	p.F599F	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		12	2328	-	all_lung(31;0.000197)		599					A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	c.1797T>C	CCDS34149.1																																																																																				0.572	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1		NM_001343		11	151	0	0	0	0.013537	0	11	151		
SLC27A6	28965	broad.mit.edu	37	5	128368806	128368806	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr5:128368806T>A	ENST00000262462.4	+	10	2701	c.1691T>A	c.(1690-1692)aTg>aAg	p.M564K	SLC27A6_ENST00000506176.1_Missense_Mutation_p.M564K|SLC27A6_ENST00000395266.1_Missense_Mutation_p.M564K			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	564					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CAGGAAAAAATGGAAGCAACA	0.289																																						uc003kuy.2		NaN																	0					0						c.(1690-1692)ATG>AAG		solute carrier family 27 (fatty acid							48.0	46.0	47.0					5																	128368806		2203	4294	6497	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128368806T>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1691T>A	5.37:g.128368806T>A	ENSP00000262462:p.Met564Lys					SLC27A6_uc003kuz.2_Missense_Mutation_p.M564K	p.M564K	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	11	2087	+		all_cancers(142;0.0483)|Prostate(80;0.055)	564					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.1691T>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.762968	0.69763	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.58358	0.34;0.34;0.34	3.85	3.85	0.44370	.	0.155066	0.56097	D	0.000028	T	0.70780	0.3263	M	0.86805	2.84	0.46521	D	0.999085	D	0.53885	0.963	P	0.58520	0.84	T	0.76597	-0.2901	9	.	.	.	-5.0952	13.3408	0.60542	0.0:0.0:0.0:1.0	.	564	Q9Y2P4	S27A6_HUMAN	K	564	ENSP00000262462:M564K;ENSP00000378684:M564K;ENSP00000421024:M564K	.	M	+	2	0	SLC27A6	128396705	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	6.896000	0.75665	1.984000	0.57885	0.477000	0.44152	ATG		0.289	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1		NM_014031		6	22	0	0	0	0.021553	0	6	22		
PCDHA8	56140	broad.mit.edu	37	5	140222221	140222221	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr5:140222221G>A	ENST00000531613.1	+	1	1315	c.1315G>A	c.(1315-1317)Gcc>Acc	p.A439T	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A439T|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	439	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCCACCGCCAGCTTGTC	0.667																																						uc003lhs.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1315-1317)GCC>ACC		protocadherin alpha 8 isoform 1 precursor							55.0	58.0	57.0					5																	140222221		2193	4261	6454	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222221G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1315G>A	5.37:g.140222221G>A	ENSP00000434655:p.Ala439Thr					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_uc003lhr.1_Missense_Mutation_p.A439T	p.A439T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1315	+			439			Cadherin 4.|Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1315G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320527	0.23994	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.50548	0.74;0.74	3.72	2.84	0.33178	Cadherin (5);Cadherin-like (1);	0.000000	0.36482	U	0.002575	T	0.31606	0.0802	N	0.21194	0.64	0.09310	N	1	B;B	0.26147	0.143;0.118	B;B	0.33392	0.163;0.101	T	0.21621	-1.0240	10	0.19590	T	0.45	.	8.0308	0.30463	0.1907:0.0:0.8093:0.0	.	439;439	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	439	ENSP00000434655:A439T;ENSP00000367363:A439T	ENSP00000367363:A439T	A	+	1	0	PCDHA8	140202405	0.879000	0.30193	0.747000	0.31113	0.290000	0.27261	1.820000	0.39032	0.681000	0.31386	0.306000	0.20318	GCC		0.667	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2		NM_018911		17	108	0	0	0	0.028581	0	17	108		
PCDHA8	56140	broad.mit.edu	37	5	140222946	140222946	+	Silent	SNP	G	G	A	rs368338560		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr5:140222946G>A	ENST00000531613.1	+	1	2040	c.2040G>A	c.(2038-2040)tcG>tcA	p.S680S	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.S680S|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	680					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCGTCATCGAGGCAGTCGG	0.627																																						uc003lhs.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2038-2040)TCG>TCA		protocadherin alpha 8 isoform 1 precursor		G	,,,,,,,,,,	0,4392		0,0,2196	66.0	65.0	65.0		,,,,,,,2040,,,2040	-1.5	0.0	5		65	1,8531	1.2+/-3.3	0,1,4265	no	intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron,intron,coding-synonymous	PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031856.1	,,,,,,,,,,	0,1,6461	AA,AG,GG		0.0117,0.0,0.0077	,,,,,,,,,,	,,,,,,,680/951,,,680/815	140222946	1,12923	2196	4266	6462	SO:0001819	synonymous_variant	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222946G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2040G>A	5.37:g.140222946G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.S680S	p.S680S	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2040	+			680			Extracellular (Potential).		B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.2040G>A	CCDS54919.1																																																																																				0.627	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2		NM_018911		12	99	0	0	0	0.010729	0	12	99		
NSD1	64324	broad.mit.edu	37	5	176665484	176665484	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr5:176665484G>C	ENST00000439151.2	+	7	4213	c.4168G>C	c.(4168-4170)Gag>Cag	p.E1390Q	NSD1_ENST00000361032.4_Missense_Mutation_p.E1287Q|NSD1_ENST00000347982.4_Missense_Mutation_p.E1121Q|NSD1_ENST00000354179.4_Missense_Mutation_p.E1121Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1390					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTTGAGTCTGAGGAATTGCT	0.507			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NaN		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(4168-4170)GAG>CAG		nuclear receptor binding SET domain protein 1							90.0	91.0	91.0					5																	176665484		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176665484G>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4168G>C	5.37:g.176665484G>C	ENSP00000395929:p.Glu1390Gln	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.E1121Q|NSD1_uc003mfs.1_Missense_Mutation_p.E1287Q|NSD1_uc011dfx.1_Missense_Mutation_p.E1038Q	p.E1390Q	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	7	4306	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1390					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4168G>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363327	0.61513	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93763	-3.17;-3.17;-3.17;-3.28	5.44	5.44	0.79542	.	0.177272	0.40469	N	0.001083	D	0.88489	0.6450	N	0.19112	0.55	0.31627	N	0.64959	B;B;P	0.52842	0.42;0.42;0.956	B;B;B	0.44224	0.155;0.219;0.444	D	0.88552	0.3117	10	0.39692	T	0.17	.	14.6356	0.68686	0.0:0.0:1.0:0.0	.	1121;1287;1390	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Q	1121;1390;1121;1287	ENSP00000346111:E1121Q;ENSP00000395929:E1390Q;ENSP00000343209:E1121Q;ENSP00000354310:E1287Q	ENSP00000343209:E1121Q	E	+	1	0	NSD1	176598090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.017000	0.64047	2.832000	0.97577	0.655000	0.94253	GAG		0.507	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2		NM_172349		23	71	0	0	0	0.01892	0	23	71		
RNF182	221687	broad.mit.edu	37	6	13977507	13977507	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:13977507G>C	ENST00000488300.1	+	3	680	c.157G>C	c.(157-159)Gac>Cac	p.D53H	RNF182_ENST00000537663.1_Missense_Mutation_p.D53H|RNF182_ENST00000544682.1_Missense_Mutation_p.D53H|RNF182_ENST00000537388.1_Missense_Mutation_p.D53H	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	53					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D53Y(1)		cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			CAAGATCATAGACTTTGGGGA	0.463																																						uc003nbe.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	large_intestine(2)|ovary(1)	3						c.(157-159)GAC>CAC		ring finger protein 182							165.0	156.0	159.0					6																	13977507		2203	4300	6503	SO:0001583	missense	221687					cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:13977507G>C	AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.157G>C	6.37:g.13977507G>C	ENSP00000420465:p.Asp53His					RNF182_uc003nbf.2_Missense_Mutation_p.D53H|RNF182_uc003nbg.2_Missense_Mutation_p.D53H	p.D53H	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	Epithelial(50;0.195)		3	575	+	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	53			RING-type.		B2RDG2|Q8NBG3	Missense_Mutation	SNP	ENST00000488300.1	37	c.157G>C	CCDS4531.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859559	0.71834	.	.	ENSG00000180537	ENST00000537663;ENST00000488300;ENST00000544682;ENST00000420478;ENST00000423553;ENST00000537388	D;D;D;T;T;D	0.86297	-2.1;-2.1;-2.1;-0.3;-0.3;-2.1	5.52	3.68	0.42216	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.405101	0.27253	N	0.020210	D	0.83229	0.5209	L	0.57536	1.79	0.51233	D	0.999913	P	0.40553	0.721	P	0.48704	0.587	T	0.82267	-0.0542	9	.	.	.	-22.9684	11.3221	0.49428	0.0693:0.1265:0.8042:0.0	.	53	Q8N6D2	RN182_HUMAN	H	53	ENSP00000443228:D53H;ENSP00000420465:D53H;ENSP00000442021:D53H;ENSP00000419329:D53H;ENSP00000418717:D53H;ENSP00000441271:D53H	.	D	+	1	0	RNF182	14085486	1.000000	0.71417	0.991000	0.47740	0.926000	0.56050	6.354000	0.73036	1.342000	0.45619	0.563000	0.77884	GAC		0.463	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2		NM_152737		11	164	0	0	0	0.008291	0	11	164		
ZNF311	282890	broad.mit.edu	37	6	28967310	28967310	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:28967310G>A	ENST00000377179.3	-	5	776	c.264C>T	c.(262-264)ctC>ctT	p.L88L	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	88	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)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CATCCTTATAGAGATGCCTTT	0.398																																						uc003nlu.2		NaN																	0					0						c.(262-264)CTC>CTT		zinc finger protein 311							159.0	140.0	147.0					6																	28967310		1511	2709	4220	SO:0001819	synonymous_variant	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28967310G>A	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.264C>T	6.37:g.28967310G>A						ZNF311_uc011dlk.1_5'UTR|ZNF311_uc003nlv.2_5'UTR	p.L88L	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN			5	777	-			88					A2BFK5|B0S7Y4|Q92971	Silent	SNP	ENST00000377179.3	37	c.264C>T	CCDS34357.1																																																																																				0.398	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3		XM_212581		7	88	0	0	0	0.00308	0	7	88		
ELOVL5	60481	broad.mit.edu	37	6	53160459	53160459	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:53160459C>G	ENST00000542638.1	-	2	486	c.39G>C	c.(37-39)aaG>aaC	p.K13N	ELOVL5_ENST00000486973.1_5'UTR|ELOVL5_ENST00000370918.4_Missense_Mutation_p.K13N|ELOVL5_ENST00000304434.6_Missense_Mutation_p.K13N|ELOVL5_ENST00000541407.1_Missense_Mutation_p.K13N|ELOVL5_ENST00000370913.5_Missense_Mutation_p.K13N			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	13					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					CTAGCAATGCCTTGAAATAGG	0.363																																						uc003pbq.1		NaN																	0					0						c.(37-39)AAG>AAC		elongation of very long chain fatty acids-like							129.0	99.0	110.0					6																	53160459		2203	4300	6503	SO:0001583	missense	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53160459C>G	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.39G>C	6.37:g.53160459C>G	ENSP00000440728:p.Lys13Asn					ELOVL5_uc003pbr.1_Missense_Mutation_p.K13N|ELOVL5_uc011dwx.1_Missense_Mutation_p.K13N|ELOVL5_uc003pbs.1_Missense_Mutation_p.K13N|ELOVL5_uc003pbu.2_Missense_Mutation_p.K13N|ELOVL5_uc011dwy.1_RNA	p.K13N	NM_021814	NP_068586	Q9NYP7	ELOV5_HUMAN			2	487	-	Lung NSC(77;0.116)		13					B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	ENST00000542638.1	37	c.39G>C	CCDS4951.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514038	0.27123	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407;ENST00000370913	T;T;T;T	0.23147	1.93;1.93;1.93;1.92	5.66	4.76	0.60689	.	0.467652	0.27406	N	0.019517	T	0.06962	0.0177	N	0.11000	0.08	0.28335	N	0.921585	B;P;B;B	0.47910	0.002;0.902;0.001;0.0	B;P;B;B	0.49192	0.004;0.602;0.002;0.002	T	0.09862	-1.0655	10	0.20519	T	0.43	-1.095	7.1169	0.25421	0.1759:0.7315:0.0:0.0927	.	13;13;13;13	F6SH78;Q5TGH5;B3KWH9;Q9NYP7	.;.;.;ELOV5_HUMAN	N	13	ENSP00000359956:K13N;ENSP00000306640:K13N;ENSP00000440728:K13N;ENSP00000438095:K13N	ENSP00000306640:K13N	K	-	3	2	ELOVL5	53268418	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	1.139000	0.31504	1.440000	0.47531	-0.345000	0.07892	AAG		0.363	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1		NM_021814		3	11	0	0	0	0.004672	0	3	11		
UBE2J1	51465	broad.mit.edu	37	6	90053459	90053459	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:90053459C>T	ENST00000435041.2	-	2	326	c.48G>A	c.(46-48)atG>atA	p.M16I		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	16					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CCGCTTCTTTCATTAAACGTT	0.299																																						uc010kcb.2		NaN																	0					0						c.(46-48)ATG>ATA		ubiquitin-conjugating enzyme E2, J1							50.0	50.0	50.0					6																	90053459		2203	4299	6502	SO:0001583	missense	51465					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr6:90053459C>T	AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"""Ubiquitin-conjugating enzymes E2"""	17598	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"""			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.48G>A	6.37:g.90053459C>T	ENSP00000451261:p.Met16Ile					UBE2J1_uc003pnc.2_Missense_Mutation_p.M16I	p.M16I	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0139)	3	221	-		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)	16			Cytoplasmic (Potential).		A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Missense_Mutation	SNP	ENST00000435041.2	37	c.48G>A	CCDS5021.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632091	0.87660	.	.	ENSG00000198833	ENST00000435041;ENST00000536477	T	0.41065	1.01	5.4	5.4	0.78164	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.52980	0.1768	L	0.58428	1.81	0.80722	D	1	D	0.56035	0.974	P	0.60609	0.877	T	0.52571	-0.8558	10	0.59425	D	0.04	.	19.5511	0.95322	0.0:1.0:0.0:0.0	.	16	Q9Y385	UB2J1_HUMAN	I	16;1	ENSP00000451261:M16I	ENSP00000354684:M16I	M	-	3	0	UBE2J1	90110178	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.423000	0.73361	2.704000	0.92352	0.650000	0.86243	ATG		0.299	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2		NM_016021		4	32	0	0	0	0.009096	0	4	32		
AK9	221264	broad.mit.edu	37	6	109867162	109867162	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:109867162C>G	ENST00000424296.2	-	26	3209	c.3133G>C	c.(3133-3135)Gat>Cat	p.D1045H	AK9_ENST00000341338.6_Missense_Mutation_p.D124H|AK9_ENST00000355283.1_Missense_Mutation_p.D124H	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1045	Adenylate kinase 2.|NMPbind 2. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TTCTCAGAATCTTCCTCAAAT	0.358																																						uc003ptn.2		NaN																	0				ovary(1)	1						c.(3133-3135)GAT>CAT		adenylate kinase domain containing 1 isoform 1							109.0	106.0	107.0					6																	109867162		2203	4300	6503	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109867162C>G	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3133G>C	6.37:g.109867162C>G	ENSP00000410186:p.Asp1045His					AKD1_uc011eat.1_Missense_Mutation_p.D124H	p.D1045H	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			26	3210	-			1045					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.3133G>C	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518190	0.85495	.	.	ENSG00000155085	ENST00000424296;ENST00000355283;ENST00000341338	T;T;T	0.65549	-0.16;0.98;0.98	5.47	5.47	0.80525	ATPase, AAA+ type, core (1);	0.319169	0.36591	N	0.002502	T	0.59891	0.2227	L	0.35487	1.065	0.48040	D	0.999572	P;D	0.71674	0.911;0.998	P;P	0.58013	0.723;0.831	T	0.55341	-0.8156	9	.	.	.	.	19.6814	0.95965	0.0:1.0:0.0:0.0	.	124;1045	Q5TCS8-5;Q5TCS8	.;AKD1_HUMAN	H	1045;124;124	ENSP00000410186:D1045H;ENSP00000347431:D124H;ENSP00000344637:D124H	.	D	-	1	0	AKD1	109973855	1.000000	0.71417	0.986000	0.45419	0.874000	0.50279	5.945000	0.70226	2.733000	0.93635	0.557000	0.71058	GAT		0.358	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001145128		8	88	0	0	0	0.00308	0	8	88		
PTPRK	5796	broad.mit.edu	37	6	128302401	128302401	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:128302401C>T	ENST00000368215.3	-	25	3567	c.3568G>A	c.(3568-3570)Gaa>Aaa	p.E1190K	PTPRK_ENST00000368213.5_Missense_Mutation_p.E1197K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E1191K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E1213K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E1223K|PTPRK_ENST00000368227.3_Missense_Mutation_p.E1208K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E1209K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1190	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTGCAGTCTTCAGCTTGTAGT	0.428																																						uc003qbk.2		NaN																	0				ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(3568-3570)GAA>AAA		protein tyrosine phosphatase, receptor type, K							85.0	68.0	74.0					6																	128302401		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128302401C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3568G>A	6.37:g.128302401C>T	ENSP00000357198:p.Glu1190Lys					PTPRK_uc003qbj.2_Missense_Mutation_p.E1191K|PTPRK_uc010kfc.2_Missense_Mutation_p.E1197K|PTPRK_uc011ebu.1_Missense_Mutation_p.E1213K	p.E1190K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	25	3935	-			1190			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3568G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.488988	0.96323	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54;2.54	5.75	4.87	0.63330	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	L	0.49126	1.545	0.80722	D	1	D;D;P;P	0.61080	0.989;0.983;0.915;0.949	P;P;P;P	0.61201	0.844;0.885;0.543;0.731	T	0.01114	-1.1447	10	0.59425	D	0.04	.	16.1889	0.81972	0.1343:0.8657:0.0:0.0	.	1213;1197;1190;1191	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	K	1191;1208;1213;1197;1209;1190;1223	ENSP00000357209:E1191K;ENSP00000357210:E1208K;ENSP00000432973:E1213K;ENSP00000357196:E1197K;ENSP00000357193:E1209K;ENSP00000357198:E1190K;ENSP00000357190:E1223K	ENSP00000357190:E1223K	E	-	1	0	PTPRK	128344094	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.776000	0.85560	1.419000	0.47118	0.655000	0.94253	GAA		0.428	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1				5	25	0	0	0	0.001984	0	5	25		
LAMA2	3908	broad.mit.edu	37	6	129475825	129475825	+	Silent	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:129475825A>G	ENST00000421865.2	+	8	1252	c.1203A>G	c.(1201-1203)aaA>aaG	p.K401K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	401	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCAGACCCAAAGGGGTAAAGT	0.333																																						uc003qbn.2		NaN																	0				ovary(8)|breast(1)|skin(1)	10						c.(1201-1203)AAA>AAG		laminin alpha 2 subunit isoform a precursor							81.0	79.0	80.0					6																	129475825		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129475825A>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1203A>G	6.37:g.129475825A>G						LAMA2_uc003qbo.2_Silent_p.K401K	p.K401K	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	8	1308	+			401			Laminin EGF-like 2.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.1203A>G	CCDS5138.1																																																																																				0.333	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1				5	50	0	0	0	0.014758	0	5	50		
HBS1L	10767	broad.mit.edu	37	6	135287557	135287557	+	Missense_Mutation	SNP	T	T	C	rs1139174		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:135287557T>C	ENST00000367837.5	-	17	2159	c.1953A>G	c.(1951-1953)atA>atG	p.I651M	HBS1L_ENST00000527578.1_Missense_Mutation_p.I487M|HBS1L_ENST00000415177.2_Missense_Mutation_p.I586M|HBS1L_ENST00000367824.4_Missense_Mutation_p.I487M|HBS1L_ENST00000445176.2_Missense_Mutation_p.I375M|HBS1L_ENST00000367826.2_Missense_Mutation_p.I609M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	651					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GCTCAAGAGCTATTGGTCTTT	0.368																																						uc003qez.2		NaN																	0				skin(2)	2						c.(1951-1953)ATA>ATG		Hsp70 subfamily B suppressor 1-like protein							145.0	137.0	140.0					6																	135287557		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135287557T>C	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1953A>G	6.37:g.135287557T>C	ENSP00000356811:p.Ile651Met					HBS1L_uc003qey.2_Missense_Mutation_p.I487M|HBS1L_uc011ecy.1_Missense_Mutation_p.I375M|HBS1L_uc011ecz.1_Missense_Mutation_p.I487M|HBS1L_uc011eda.1_Missense_Mutation_p.I609M	p.I651M	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	17	2160	-	Colorectal(23;0.221)		651					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1953A>G	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.999434	0.54147	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;0.81	5.96	-11.9	0.00025	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.315339	0.31484	N	0.007573	T	0.19644	0.0472	L	0.52266	1.64	0.25043	N	0.991182	P;B	0.35527	0.507;0.42	B;P	0.44772	0.203;0.46	T	0.56341	-0.7995	10	0.02654	T	1	0.1841	2.8733	0.05624	0.4519:0.275:0.1202:0.1528	.	609;651	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	M	651;487;586;609;487;521;375	ENSP00000356811:I651M;ENSP00000436256:I487M;ENSP00000389826:I586M;ENSP00000356800:I609M;ENSP00000356798:I487M;ENSP00000434533:I521M;ENSP00000415305:I375M	ENSP00000356798:I487M	I	-	3	3	HBS1L	135329250	0.138000	0.22547	0.000000	0.03702	0.940000	0.58332	-0.461000	0.06712	-2.771000	0.00365	-0.327000	0.08410	ATA		0.368	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2				27	85	0	0	0	0.007291	0	27	85		
AC005013.5	0	broad.mit.edu	37	7	28996417	28996417	+	lincRNA	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr7:28996417C>T	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							GGCGAGGGATCCGCGCAGGAT	0.662																																						uc003szt.2		NaN																	0					0						c.(1246-1248)GAT>AAT		TLR4 interactor with leucine rich repeats							39.0	49.0	46.0					7																	28996417		2081	4207	6288			9865				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding	g.chr7:28996417C>T																													7.37:g.28996417C>T						uc003szu.1_5'Flank	p.D416N	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN			3	1613	-			416			Extracellular (Potential).|LRRCT.			Missense_Mutation	SNP	ENST00000436594.1	37	c.1246G>A																																																																																					0.662	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000327953.3				15	42	0	0	0	0.024245	0	15	42		
MAGI2	9863	broad.mit.edu	37	7	79082591	79082591	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr7:79082591G>A	ENST00000354212.4	-	1	299	c.46C>T	c.(46-48)Cat>Tat	p.H16Y	MAGI2-AS3_ENST00000429408.1_RNA|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2-AS3_ENST00000422093.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.H16Y|MAGI2-AS3_ENST00000414797.1_RNA|MAGI2-AS3_ENST00000446159.1_RNA|MAGI2-AS3_ENST00000424477.1_RNA|MAGI2-AS3_ENST00000451809.1_RNA|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2_ENST00000419488.1_Missense_Mutation_p.H16Y	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	16					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACACTCTCATGGACTTTGCTA	0.592																																						uc003ugx.2		NaN																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(46-48)CAT>TAT		membrane associated guanylate kinase, WW and PDZ							89.0	103.0	98.0					7																	79082591		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:79082591G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.46C>T	7.37:g.79082591G>A	ENSP00000346151:p.His16Tyr					MAGI2_uc003ugy.2_Missense_Mutation_p.H16Y|uc010lea.1_5'Flank	p.H16Y	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			1	300	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	16					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.46C>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364121	0.82353	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.10763	2.94;2.95;2.84	5.17	5.17	0.71159	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.29817	0.0745	M	0.69823	2.125	0.80722	D	1	D;D	0.59357	0.979;0.985	P;P	0.58391	0.769;0.838	T	0.02081	-1.1217	9	0.72032	D	0.01	.	17.6371	0.88125	0.0:0.0:1.0:0.0	.	16;16	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	Y	16	ENSP00000405766:H16Y;ENSP00000346151:H16Y;ENSP00000428389:H16Y	ENSP00000346151:H16Y	H	-	1	0	MAGI2	78920527	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.638000	0.98445	2.400000	0.81607	0.491000	0.48974	CAT		0.592	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3		NM_012301		24	124	0	0	0	0.024334	0	24	124		
AKAP9	10142	broad.mit.edu	37	7	91625086	91625086	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr7:91625086T>C	ENST00000359028.2	+	8	1163	c.938T>C	c.(937-939)tTg>tCg	p.L313S	AKAP9_ENST00000358100.2_Missense_Mutation_p.L313S|AKAP9_ENST00000356239.3_Missense_Mutation_p.L301S|AKAP9_ENST00000394564.1_Missense_Mutation_p.L301S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	313					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTAGTTTCTTGCAAGAGAAA	0.318			T	BRAF	papillary thyroid																																	uc003ulg.2		NaN		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(901-903)TTG>TCG		A-kinase anchor protein 9 isoform 2							43.0	43.0	43.0					7																	91625086		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91625086T>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.938T>C	7.37:g.91625086T>C	ENSP00000351922:p.Leu313Ser					AKAP9_uc003uld.3_Missense_Mutation_p.L301S|AKAP9_uc003ule.2_Missense_Mutation_p.L313S|AKAP9_uc003ulf.2_Missense_Mutation_p.L301S	p.L301S	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		7	1127	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		313			Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.902T>C		.	.	.	.	.	.	.	.	.	.	T	15.35	2.808251	0.50421	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.17	5.17	0.71159	.	0.000000	0.33253	N	0.005117	T	0.75295	0.3830	L	0.59436	1.845	0.26655	N	0.972012	D;D;D;D	0.89917	1.0;1.0;0.999;0.996	D;D;D;P	0.74674	0.984;0.975;0.967;0.856	T	0.69785	-0.5051	10	0.56958	D	0.05	.	15.305	0.73985	0.0:0.0:0.0:1.0	.	301;301;313;301	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	S	301;313;313;313;313;301	ENSP00000348573:L301S;ENSP00000351922:L313S;ENSP00000350813:L313S;ENSP00000378065:L301S	ENSP00000348573:L301S	L	+	2	0	AKAP9	91463022	0.959000	0.32827	0.989000	0.46669	0.984000	0.73092	5.840000	0.69402	2.078000	0.62432	0.533000	0.62120	TTG		0.318	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751		8	27	0	0	0	0.00308	0	8	27		
ASB4	51666	broad.mit.edu	37	7	95125268	95125268	+	Missense_Mutation	SNP	G	G	A	rs141186023		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr7:95125268G>A	ENST00000325885.5	+	2	457	c.386G>A	c.(385-387)cGt>cAt	p.R129H	ASB4_ENST00000257621.4_3'UTR|ASB4_ENST00000428113.1_Missense_Mutation_p.R129H	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	129					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CTCTGTGATCGTGGGGCAAAG	0.458													G|||	0	0.0	0.0	0.0	5008	,	,		19859	0.0		0.0	False		,,,				2504	0.0					uc011kij.1		NaN																	0				central_nervous_system(1)	1						c.(385-387)CGT>CAT		ankyrin repeat and SOCS box-containing protein 4		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	206.0	155.0	172.0		386,386	0.4	1.0	7	dbSNP_134	172	0,8600		0,0,4300	yes	missense,missense	ASB4	NM_016116.2,NM_145872.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	129/427,129/350	95125268	1,13005	2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95125268G>A	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.386G>A	7.37:g.95125268G>A	ENSP00000321388:p.Arg129His					ASB4_uc003unx.2_Missense_Mutation_p.R129H	p.R129H	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		2	386	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		129			ANK 2.		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.386G>A	CCDS5641.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.175	-1.067332	0.01934	2.27E-4	0.0	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.64618	-0.11;-0.11	5.35	0.443	0.16587	Ankyrin repeat-containing domain (3);	0.302845	0.38326	N	0.001726	T	0.33585	0.0868	N	0.13003	0.285	0.31272	N	0.691575	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.37549	-0.9701	10	0.02654	T	1	-15.6012	7.7697	0.29001	0.6999:0.0:0.3001:0.0	.	129;129	Q9Y574;Q14D68	ASB4_HUMAN;.	H	129	ENSP00000321388:R129H;ENSP00000397070:R129H	ENSP00000321388:R129H	R	+	2	0	ASB4	94963204	0.043000	0.20138	0.966000	0.40874	0.151000	0.21798	0.991000	0.29654	0.213000	0.20722	0.655000	0.94253	CGT		0.458	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2		NM_016116		14	64	0	0	0	0.016723	0	14	64		
BCAP29	55973	broad.mit.edu	37	7	107253835	107253835	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr7:107253835G>A	ENST00000005259.4	+	7	987	c.648G>A	c.(646-648)tcG>tcA	p.S216S	BCAP29_ENST00000379119.2_Silent_p.S216S|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379121.2_Silent_p.S122S|BCAP29_ENST00000379117.2_Silent_p.S216S|BCAP29_ENST00000445771.2_Silent_p.S216S|BCAP29_ENST00000465919.1_Silent_p.S122S	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	216					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AGAGACTTTCGAAAGAATATG	0.333																																						uc003vej.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(646-648)TCG>TCA		B-cell receptor-associated protein BAP29 isoform							79.0	78.0	79.0					7																	107253835		2203	4300	6503	SO:0001819	synonymous_variant	55973				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		g.chr7:107253835G>A		CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.648G>A	7.37:g.107253835G>A						BCAP29_uc011kly.1_Silent_p.S122S|BCAP29_uc011klz.1_Silent_p.S216S|BCAP29_uc011kma.1_Silent_p.S216S	p.S216S	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN			7	987	+			216			Cytoplasmic (Potential).		G5E9L4|O95003	Silent	SNP	ENST00000005259.4	37	c.648G>A	CCDS34731.1	.	.	.	.	.	.	.	.	.	.	G	8.935	0.964465	0.18583	.	.	ENSG00000075790	ENST00000436699	.	.	.	5.08	-10.2	0.00374	.	.	.	.	.	T	0.31071	0.0785	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39187	-0.9626	4	.	.	.	-44.9992	0.8606	0.01192	0.2059:0.3164:0.1481:0.3295	.	.	.	.	K	130	.	.	E	+	1	0	BCAP29	107041071	0.787000	0.28750	0.641000	0.29422	0.892000	0.51952	-0.473000	0.06615	-2.113000	0.00833	-2.114000	0.00352	GAA		0.333	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2		NM_018844		10	38	0	0	0	0.010729	0	10	38		
NCOA2	10499	broad.mit.edu	37	8	71126156	71126156	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr8:71126156G>A	ENST00000452400.2	-	4	422	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	81	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTGATCTGACGAATTTGCTTC	0.343			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1		NaN		Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	0				lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(241-243)CGT>TGT		nuclear receptor coactivator 2							89.0	77.0	81.0					8																	71126156		1798	4074	5872	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71126156G>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.241C>T	8.37:g.71126156G>A	ENSP00000399968:p.Arg81Cys						p.R81C	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		4	403	-	Breast(64;0.201)		81			Basic motif.		Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.241C>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677842	0.68042	.	.	ENSG00000140396	ENST00000452400	T	0.02682	4.2	5.53	5.53	0.82687	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00111	-1.2045	10	0.87932	D	0	.	19.466	0.94939	0.0:0.0:1.0:0.0	.	81	Q15596	NCOA2_HUMAN	C	81	ENSP00000399968:R81C	ENSP00000399968:R81C	R	-	1	0	NCOA2	71288710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.284000	0.72652	2.607000	0.88179	0.655000	0.94253	CGT		0.343	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1				10	21	0	0	0	0.006214	0	10	21		
RPS6	6194	broad.mit.edu	37	9	19376294	19376294	+	Silent	SNP	T	T	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:19376294T>C	ENST00000380394.4	-	6	805	c.747A>G	c.(745-747)aaA>aaG	p.K249K	RPS6_ENST00000498815.1_5'UTR|RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000380384.1_Silent_p.K218K|RPS6_ENST00000315377.4_Silent_p.K218K	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	249					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|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)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		AAAAATCTTATTTCTGACTGG	0.383																																						uc003znv.1		NaN																	0				ovary(1)	1						c.(745-747)AAA>AAG		ribosomal protein S6							44.0	48.0	47.0					9																	19376294		2201	4297	6498	SO:0001819	synonymous_variant	6194				endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding	g.chr9:19376294T>C		CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"""S ribosomal proteins"""	10429	protein-coding gene	gene with protein product	"""40S ribosomal protein S6"", ""phosphoprotein NP33"""	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.747A>G	9.37:g.19376294T>C						RPS6_uc003znu.1_Silent_p.K218K	p.K249K	NM_001010	NP_001001	P62753	RS6_HUMAN		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)	6	789	-		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)	249					P08227|P10660|Q4VBY7|Q8N6Z7	Silent	SNP	ENST00000380394.4	37	c.747A>G	CCDS6492.1																																																																																				0.383	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051858.1		NM_001010		8	76	0	0	0	0.004482	0	8	76		
PGM5	5239	broad.mit.edu	37	9	71098912	71098912	+	Missense_Mutation	SNP	C	C	T	rs200812025		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:71098912C>T	ENST00000396396.1	+	9	1656	c.1427C>T	c.(1426-1428)aCg>aTg	p.T476M		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	476					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GTGGCGAAGACGGATAGTTTT	0.502																																						uc004agr.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1426-1428)ACG>ATG		phosphoglucomutase 5		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	166.0	139.0	148.0		1427	5.8	1.0	9		148	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PGM5	NM_021965.3	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	476/568	71098912	2,13004	2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71098912C>T	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1427C>T	9.37:g.71098912C>T	ENSP00000379678:p.Thr476Met						p.T476M	NM_021965	NP_068800	Q15124	PGM5_HUMAN			9	1656	+			476					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1427C>T	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096749	0.56075	2.27E-4	1.16E-4	ENSG00000154330	ENST00000396396	T	0.43294	0.95	5.75	5.75	0.90469	.	0.153716	0.64402	D	0.000018	T	0.32734	0.0839	N	0.24115	0.695	0.47737	D	0.999505	P	0.45634	0.863	B	0.40659	0.336	T	0.16453	-1.0402	10	0.66056	D	0.02	.	14.9509	0.71074	0.0:0.8565:0.1435:0.0	.	476	Q15124	PGM5_HUMAN	M	476	ENSP00000379678:T476M	ENSP00000379678:T476M	T	+	2	0	PGM5	70288732	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.874000	0.69652	2.716000	0.92895	0.655000	0.94253	ACG		0.502	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2		NM_021965		17	68	0	0	0	0.00499	0	17	68		
SUSD3	203328	broad.mit.edu	37	9	95841805	95841805	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:95841805G>A	ENST00000375472.3	+	4	514	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	SUSD3_ENST00000375469.1_Missense_Mutation_p.A147T	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	160						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						GACGGTGCAGGCCGCATACCT	0.612																																						uc004atb.2		NaN																	0				breast(2)|skin(2)|ovary(1)|lung(1)	6						c.(478-480)GCC>ACC		sushi domain containing 3							80.0	69.0	73.0					9																	95841805		2203	4300	6503	SO:0001583	missense	203328					integral to membrane		g.chr9:95841805G>A	AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.478G>A	9.37:g.95841805G>A	ENSP00000364621:p.Ala160Thr					SUSD3_uc004atc.2_Missense_Mutation_p.A147T	p.A160T	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN			4	514	+			160			Cytoplasmic (Potential).		Q49AA6|Q6UXV7	Missense_Mutation	SNP	ENST00000375472.3	37	c.478G>A	CCDS6701.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763857	0.49574	.	.	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.71579	-0.58;-0.13	4.97	4.07	0.47477	.	0.338661	0.27327	N	0.019870	T	0.70798	0.3265	L	0.59436	1.845	0.37489	D	0.916298	P;P	0.50943	0.93;0.94	P;P	0.48795	0.59;0.539	T	0.76280	-0.3017	10	0.62326	D	0.03	-19.6783	9.9305	0.41519	0.0964:0.0:0.9036:0.0	.	147;160	Q96L08-2;Q96L08	.;SUSD3_HUMAN	T	160;147	ENSP00000364621:A160T;ENSP00000364618:A147T	ENSP00000364618:A147T	A	+	1	0	SUSD3	94881626	1.000000	0.71417	0.304000	0.25085	0.084000	0.17831	2.547000	0.45786	1.399000	0.46721	0.650000	0.86243	GCC		0.612	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1		NM_145006		13	32	0	0	0	0.016723	0	13	32		
SMC2	10592	broad.mit.edu	37	9	106900437	106900437	+	Silent	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:106900437A>G	ENST00000286398.7	+	24	3696	c.3408A>G	c.(3406-3408)acA>acG	p.T1136T	SMC2_ENST00000374793.3_Silent_p.T1136T|SMC2_ENST00000374787.3_Silent_p.T1136T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1136					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CTCATTTCACACATTCTCAGG	0.343																																						uc004bbv.2		NaN																	0				ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						c.(3406-3408)ACA>ACG		structural maintenance of chromosomes 2							93.0	86.0	88.0					9																	106900437		2203	4300	6503	SO:0001819	synonymous_variant	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106900437A>G	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3408A>G	9.37:g.106900437A>G						SMC2_uc004bbw.2_Silent_p.T1136T|SMC2_uc011lvl.1_Silent_p.T1136T|SMC2_uc004bbx.2_Silent_p.T1136T|SMC2_uc004bby.2_RNA	p.T1136T	NM_001042551	NP_001036016	O95347	SMC2_HUMAN			24	3696	+			1136					Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	c.3408A>G	CCDS35086.1																																																																																				0.343	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1				22	39	0	0	0	0.016522	0	22	39		
SNAPC4	6621	broad.mit.edu	37	9	139273423	139273423	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:139273423G>A	ENST00000298532.2	-	21	3224	c.2856C>T	c.(2854-2856)ctC>ctT	p.L952L		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CAGGCCCAGAGAGCGGTACAT	0.657																																						uc004chh.2		NaN																	0					0						c.(2854-2856)CTC>CTT		small nuclear RNA activating complex,							16.0	19.0	18.0					9																	139273423		2188	4291	6479	SO:0001819	synonymous_variant	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139273423G>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2856C>T	9.37:g.139273423G>A							p.L952L	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	21	2865	-		Myeloproliferative disorder(178;0.0511)	952			Pro-rich.			Silent	SNP	ENST00000298532.2	37	c.2856C>T	CCDS6998.1																																																																																				0.657	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1		NM_003086		5	6	0	0	0	0.014758	0	5	6		
MAMDC4	158056	broad.mit.edu	37	9	139752992	139752992	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:139752992G>A	ENST00000317446.2	+	22	2865	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.E1018K	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCTGGGCACAGAGGCAGGTAC	0.706																																						uc004cjs.2		NaN																	0				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7						c.(2815-2817)GAG>AAG		apical early endosomal glycoprotein precursor							13.0	15.0	14.0					9																	139752992		2165	4272	6437	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139752992G>A	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2815G>A	9.37:g.139752992G>A	ENSP00000319388:p.Glu939Lys					MAMDC4_uc011mej.1_Missense_Mutation_p.E276K	p.E939K	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	22	2865	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	1018			Extracellular (Potential).|MAM 6.			Missense_Mutation	SNP	ENST00000317446.2	37	c.2815G>A	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.79|10.79	1.451005|1.451005	0.26074|0.26074	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.02177|.	4.41;4.41|.	5.05|5.05	0.944|0.944	0.19537|0.19537	Concanavalin A-like lectin/glucanase (1);MAM domain (3);|.	0.977107|.	0.08373|.	N|.	0.955845|.	T|T	0.32763|0.32763	0.0840|0.0840	L|L	0.33245|0.33245	0.995|0.995	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.15870|.	0.014;0.007|.	T|T	0.25398|0.25398	-1.0133|-1.0133	10|5	0.07030|.	T|.	0.85|.	-4.1477|-4.1477	8.6343|8.6343	0.33939|0.33939	0.2148:0.1124:0.6728:0.0|0.2148:0.1124:0.6728:0.0	.|.	1018;939|.	Q6UXC1;Q6UXC1-2|.	AEGP_HUMAN;.|.	K|K	939;1018|1003	ENSP00000319388:E939K;ENSP00000411339:E1018K|.	ENSP00000319388:E939K|.	E|R	+|+	1|2	0|0	MAMDC4|MAMDC4	138872813|138872813	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.094000|0.094000	0.18550|0.18550	1.067000|1.067000	0.30616|0.30616	-0.064000|-0.064000	0.13043|0.13043	-1.134000|-1.134000	0.01955|0.01955	GAG|AGA		0.706	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3		NM_206920		3	12	0	0	0	0.004672	0	3	12		
EDF1	8721	broad.mit.edu	37	9	139754441	139754441	+	IGR	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:139754441G>C	ENST00000224073.1	-	0	640				MAMDC4_ENST00000317446.2_Missense_Mutation_p.Q1099H|MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.Q1178H	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1						endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCTGGCTGCAGAAGAAGGGGA	0.632																																						uc004cjs.2		NaN																	0				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7						c.(3295-3297)CAG>CAC		apical early endosomal glycoprotein precursor							49.0	47.0	47.0					9																	139754441		2199	4299	6498	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139754441G>C	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"""multiprotein bridging factor-1"""	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948		9.37:g.139754441G>C						MAMDC4_uc011mej.1_Missense_Mutation_p.Q436H	p.Q1099H	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	26	3347	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	1178			Cytoplasmic (Potential).		Q5T5T2|Q9UIM1	Missense_Mutation	SNP	ENST00000224073.1	37	c.3297G>C	CCDS7011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.90|14.90	2.674240|2.674240	0.47781|0.47781	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.02140	.|4.49;4.43	4.53|4.53	3.61|3.61	0.41365|0.41365	.|.	.|1.610930	.|0.04011	.|N	.|0.298093	T|T	0.05318|0.05318	0.0141|0.0141	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	.|P;D	.|0.54964	.|0.947;0.969	.|P;P	.|0.47981	.|0.556;0.563	T|T	0.52253|0.52253	-0.8600|-0.8600	5|10	.|0.40728	.|T	.|0.16	-3.1111|-3.1111	13.3489|13.3489	0.60591|0.60591	0.0:0.1603:0.8397:0.0|0.0:0.1603:0.8397:0.0	.|.	.|1178;1099	.|Q6UXC1;Q6UXC1-2	.|AEGP_HUMAN;.	Q|H	1164|1099;1178	.|ENSP00000319388:Q1099H;ENSP00000411339:Q1178H	.|ENSP00000319388:Q1099H	E|Q	+|+	1|3	0|2	MAMDC4|MAMDC4	138874262|138874262	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.007000|0.007000	0.05969|0.05969	0.687000|0.687000	0.25407|0.25407	0.977000|0.977000	0.38444|0.38444	0.561000|0.561000	0.74099|0.74099	GAA|CAG		0.632	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1				5	14	0	0	0	0.014758	0	5	14		
ATP7A	538	broad.mit.edu	37	X	77275742	77275742	+	Splice_Site	SNP	G	G	C	rs150976855		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chrX:77275742G>C	ENST00000341514.6	+	13	2783	c.2628G>C	c.(2626-2628)ggG>ggC	p.G876G	ATP7A_ENST00000343533.5_Splice_Site_p.G798G|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	876			G -> E (in MNKD). {ECO:0000269|PubMed:15981243}.|G -> R (in MNKD). {ECO:0000269|PubMed:15981243}.		blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCCATACAGGGGAGGCAATGC	0.393																																						uc004ecx.3		NaN																	0					0						c.(2626-2628)GGG>GGC		ATPase, Cu++ transporting, alpha polypeptide							91.0	82.0	85.0					X																	77275742		2203	4296	6499	SO:0001630	splice_region_variant	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77275742G>C	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2627-1G>C	X.37:g.77275742G>C							p.G876G	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			13	2788	+			876		G -> R (in MNKD).|G -> E (in MNKD).	Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Silent	SNP	ENST00000341514.6	37	c.2628G>C	CCDS35339.1																																																																																				0.393	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1		NM_000052	Silent	10	46	0	0	0	0.013537	0	10	46		
DIAPH2	1730	broad.mit.edu	37	X	96213049	96213049	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chrX:96213049C>T	ENST00000324765.8	+	16	2184	c.1837C>T	c.(1837-1839)Cct>Tct	p.P613S	DIAPH2_ENST00000373054.4_Missense_Mutation_p.P609S|DIAPH2_ENST00000373049.4_Missense_Mutation_p.P613S|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P613S|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P613S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	613	FH1.|Poly-Pro.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TGGAGGAGTTCCTCCTCCCCC	0.478																																						uc004efu.3		NaN																	0				ovary(3)|lung(1)	4						c.(1837-1839)CCT>TCT		diaphanous 2 isoform 156							60.0	58.0	59.0					X																	96213049		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96213049C>T	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1837C>T	X.37:g.96213049C>T	ENSP00000321348:p.Pro613Ser					DIAPH2_uc004eft.3_Missense_Mutation_p.P613S	p.P613S	NM_006729	NP_006720	O60879	DIAP2_HUMAN			16	2233	+			613			Poly-Pro.|FH1.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.1837C>T	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	C	6.957	0.546516	0.13312	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.12	1.69	0.24217	Actin-binding FH2 (1);	0.703681	0.12994	N	0.422212	T	0.23727	0.0574	M	0.77616	2.38	0.09310	N	1	B;B	0.14438	0.003;0.01	B;B	0.10450	0.002;0.005	T	0.38607	-0.9653	10	0.18710	T	0.47	.	2.3735	0.04336	0.1231:0.4847:0.1834:0.2089	.	613;613	O60879;O60879-2	DIAP2_HUMAN;.	S	613;609;613;613;613;620	ENSP00000362152:P613S;ENSP00000362145:P609S;ENSP00000348082:P613S;ENSP00000362140:P613S;ENSP00000321348:P613S	ENSP00000321348:P613S	P	+	1	0	DIAPH2	96099705	0.137000	0.22531	0.000000	0.03702	0.004000	0.04260	2.982000	0.49337	-0.085000	0.12573	-0.215000	0.12644	CCT		0.478	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2		NM_006729, NM_007309		16	25	0	0	0	0.024245	0	16	25		
ARID1A	8289	broad.mit.edu	37	1	27101322	27101326	+	Frame_Shift_Del	DEL	CAGAT	CAGAT	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			CAGAT	-	CAGAT	CAGAT		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:27101322_27101326delCAGAT	ENST00000324856.7	+	18	4975_4979	c.4604_4608delCAGAT	c.(4603-4608)acagatfs	p.TD1535fs	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.TD1152fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1535					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGCTGCACACAGATCAGAGGGCCA	0.605			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(4603-4608)ACAGATfs		AT rich interactive domain 1A isoform a																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101322_27101326delCAGAT	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4604_4608delCAGAT	1.37:g.27101322_27101326delCAGAT	ENSP00000320485:p.Thr1535fs					ARID1A_uc001bmt.1_Frame_Shift_Del_p.T1534fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.T1152fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.T381fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	p.T1535fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	4977_4981	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1535_1536					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.4604_4608delCAGAT	CCDS285.1																																																																																				0.605	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		13	76	NaN	NaN	NaN	NaN	NaN	13	76	---	---
ZZZ3	26009	broad.mit.edu	37	1	78098224	78098224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:78098224delT	ENST00000370801.3	-	5	1291	c.816delA	c.(814-816)caafs	p.Q272fs	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	272					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)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TGACCTGCACTTGTGAATCTG	0.458																																						uc001dhq.2		NaN																	0				ovary(4)|large_intestine(1)	5						c.(814-816)CAAfs		zinc finger, ZZ-type containing 3							132.0	126.0	128.0					1																	78098224		2203	4300	6503	SO:0001589	frameshift_variant	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098224delT	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.816delA	1.37:g.78098224delT	ENSP00000359837:p.Gln272fs					ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Frame_Shift_Del_p.Q272fs|ZZZ3_uc001dhp.2_Frame_Shift_Del_p.Q272fs	p.Q272fs	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			5	1292	-			272					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Frame_Shift_Del	DEL	ENST00000370801.3	37	c.816delA	CCDS677.1																																																																																				0.458	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1		NM_015534		37	246	NaN	NaN	NaN	NaN	NaN	37	246	---	---
TACC2	10579	broad.mit.edu	37	10	123844356	123844356	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr10:123844356delC	ENST00000369005.1	+	4	2681	c.2341delC	c.(2341-2343)cccfs	p.P782fs	TACC2_ENST00000453444.2_Frame_Shift_Del_p.P782fs|TACC2_ENST00000334433.3_Frame_Shift_Del_p.P782fs|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Frame_Shift_Del_p.P782fs|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Frame_Shift_Del_p.P782fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	782					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGTGCCACATCCCCCCCAGGG	0.642																																						uc001lfv.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(2341-2343)CCCfs		transforming, acidic coiled-coil containing							51.0	57.0	55.0					10																	123844356		2203	4300	6503	SO:0001589	frameshift_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844356delC	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.2341delC	10.37:g.123844356delC	ENSP00000358001:p.Pro782fs					TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Frame_Shift_Del_p.P781fs|TACC2_uc010qtv.1_Frame_Shift_Del_p.P781fs	p.P781fs	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	2701	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	781					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Del	DEL	ENST00000369005.1	37	c.2341delC	CCDS7626.1																																																																																				0.642	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1				10	93	NaN	NaN	NaN	NaN	NaN	10	93	---	---
DNAH3	55567	broad.mit.edu	37	16	20952843	20952844	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:20952843_20952844insG	ENST00000261383.3	-	59	11532_11533	c.11533_11534insC	c.(11533-11535)caafs	p.Q3845fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3845					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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGAATGTCTTGTGCCAACTCC	0.475																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(11533-11535)CAAfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20952843_20952844insG	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11534dupC	16.37:g.20952844_20952844dupG	ENSP00000261383:p.Gln3845fs					DNAH3_uc010vbd.1_Frame_Shift_Ins_p.Q1280fs	p.Q3845fs	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	59	11533_11534	-			3845					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.11533_11534insC	CCDS10594.1																																																																																				0.475	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		36	124	NaN	NaN	NaN	NaN	NaN	36	124	---	---
SMC6	79677	broad.mit.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:17898126delT	ENST00000448223.2	-	14	1497	c.1228delA	c.(1228-1230)atafs	p.I410fs	SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	410					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAAGATATTTTTTTTTGT	0.343																																						uc002rco.2		NaN																	0				breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6						c.(1228-1230)ATAfs		SMC6 protein							82.0	78.0	80.0					2																	17898126		2203	4297	6500	SO:0001589	frameshift_variant	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17898126delT	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1228delA	2.37:g.17898126delT	ENSP00000404092:p.Ile410fs					SMC6_uc010exo.2_Frame_Shift_Del_p.I410fs|SMC6_uc002rcn.2_Frame_Shift_Del_p.I410fs|SMC6_uc002rcp.1_Frame_Shift_Del_p.I436fs|SMC6_uc002rcq.2_Frame_Shift_Del_p.I436fs|SMC6_uc002rcr.1_Frame_Shift_Del_p.I410fs	p.I410fs	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN			14	1524	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		410			Potential.		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Frame_Shift_Del	DEL	ENST00000448223.2	37	c.1228delA	CCDS1690.1																																																																																				0.343	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1		NM_024624		7	116	NaN	NaN	NaN	NaN	NaN	7	116	---	---
SDC1	6382	broad.mit.edu	37	2	20405159	20405160	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:20405159_20405160insG	ENST00000254351.4	-	2	336_337	c.92_93insC	c.(91-93)cctfs	p.P31fs	SDC1_ENST00000381150.1_Frame_Shift_Ins_p.P31fs|SDC1_ENST00000403076.1_Frame_Shift_Ins_p.P31fs|SDC1_ENST00000482879.1_5'UTR	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	31					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTTGATCTTCAGGGGGCAAATT	0.55																																						uc002rdo.1		NaN																	0				ovary(4)|skin(1)	5						c.(91-93)CCTfs		syndecan 1 precursor																																				SO:0001589	frameshift_variant	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20405159_20405160insG	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.93dupC	2.37:g.20405164_20405164dupG	ENSP00000254351:p.Pro31fs					SDC1_uc002rdp.1_Frame_Shift_Ins_p.P31fs|SDC1_uc010exv.2_Frame_Shift_Ins_p.P31fs|SDC1_uc010exw.1_RNA	p.P31fs	NM_002997	NP_002988	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	2	391_392	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		31			Extracellular (Potential).		D6W523|Q53QV0|Q546D3|Q96HB7	Frame_Shift_Ins	INS	ENST00000254351.4	37	c.92_93insC	CCDS1697.1																																																																																				0.550	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1		NM_001006946		7	106	NaN	NaN	NaN	NaN	NaN	7	106	---	---
RARB	5915	broad.mit.edu	37	3	25216052	25216053	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:25216052_25216053delCC	ENST00000404969.1	+	1	164_165	c.164_165delCC	c.(163-165)accfs	p.T55fs	AC133680.1_ENST00000455576.1_lincRNA			P10826	RARB_HUMAN	retinoic acid receptor, beta	55	Modulating.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GGATGCAGCACCCCGTCGCCGG	0.559																																						uc011awl.1		NaN																	0				ovary(1)|large_intestine(1)|pancreas(1)	3						c.(163-165)ACCfs		retinoic acid receptor, beta isoform 2	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)																																			SO:0001589	frameshift_variant	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25216052_25216053delCC	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.164_165delCC	3.37:g.25216054_25216055delCC	ENSP00000385865:p.Thr55fs						p.T55fs	NM_016152	NP_057236	P10826	RARB_HUMAN			1	230_231	+			55			Modulating.		P12891|Q00989|Q15298|Q9UN48	Frame_Shift_Del	DEL	ENST00000404969.1	37	c.164_165delCC																																																																																					0.559	RARB-201	KNOWN	basic	protein_coding	protein_coding			NM_000965, NM_016152		13	42	NaN	NaN	NaN	NaN	NaN	13	42	---	---
ALS2CL	259173	broad.mit.edu	37	3	46714826	46714827	+	Splice_Site	DEL	CA	CA	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:46714826_46714827delCA	ENST00000318962.4	-	22	2556		c.e22+1		ALS2CL_ENST00000415953.1_Splice_Site|ALS2CL_ENST00000383742.3_Splice_Site	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like						endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCCTCCCTCTCACCTGATTGCT	0.609																																						uc003cqa.1		NaN																	0				breast(2)|central_nervous_system(2)|skin(1)	5						c.e22+1		ALS2 C-terminal like isoform 1																																				SO:0001630	splice_region_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46714826_46714827delCA	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2472+1TG>-	3.37:g.46714826_46714827delCA						ALS2CL_uc003cpx.1_Splice_Site_p.Q171_splice|ALS2CL_uc003cpy.1_Splice_Site|ALS2CL_uc003cpz.1_Splice_Site_p.Q339_splice|ALS2CL_uc003cqb.1_Splice_Site_p.Q824_splice|ALS2CL_uc003cqc.1_Splice_Site	p.Q824_splice	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	22	2662	-								Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Splice_Site	DEL	ENST00000318962.4	37	c.2472_splice	CCDS2743.1																																																																																				0.609	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3		NM_147129	Intron	2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
