#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
WDR54	84058	broad.mit.edu	37	2	74654585	74654585	+	IGR	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:74654585C>T	ENST00000348227.4	+	0	1147				RTKN_ENST00000272430.5_Nonsense_Mutation_p.W407*|RTKN_ENST00000305557.5_Nonsense_Mutation_p.W394*|RTKN_ENST00000233330.6_Nonsense_Mutation_p.W357*	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GAGCCTCCATCCAGCTCTGCA	0.502																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1180-1182)tgG>tgA		rhotekin							189.0	199.0	196.0					2																	74654585		2203	4300	6503	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74654585C>T	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74654585C>T						RTKN_ENST00000233330.6_Nonsense_Mutation_p.W357*|RTKN_ENST00000272430.5_Nonsense_Mutation_p.W407*	p.W394*	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			11	1767	-			407			PH.		D6W5I3|Q53H85|Q86V45	Nonsense_Mutation	SNP	ENST00000348227.4	37	c.1182G>A	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	C	42	9.658650	0.99231	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	.	.	.	4.89	4.89	0.63831	.	0.122249	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4184	0.60982	0.0:1.0:0.0:0.0	.	.	.	.	X	394;407;357	.	ENSP00000233330:W357X	W	-	3	0	RTKN	74508093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.031000	0.76491	2.534000	0.85438	0.555000	0.69702	TGG		0.502	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		60	198	0	0	0	0.014410	0	60	198				
PREX1	57580	broad.mit.edu	37	20	47266745	47266745	+	Splice_Site	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr20:47266745C>T	ENST00000371941.3	-	24	2840		c.e24-1		PREX1_ENST00000396220.1_Splice_Site	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1						actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGGCTGCAAACTGAGAAAGTG	0.592																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.e24-1		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							45.0	48.0	47.0					20																	47266745		2203	4300	6503	SO:0001630	splice_region_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47266745C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2818-1G>A	20.37:g.47266745C>T						PREX1_ENST00000371941.3_Splice_Site				Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		24	2840	-								E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Splice_Site	SNP	ENST00000371941.3	37		CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759203	0.89843	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PREX1	46700152	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.759000	0.68785	2.769000	0.95229	0.655000	0.94253	.		0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	Intron	21	63	0	0	0	0.008871	0	21	63				
SUPV3L1	6832	broad.mit.edu	37	10	70960106	70960106	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr10:70960106G>A	ENST00000359655.4	+	11	1429	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	457	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGAGAACTAGAACCAATCAC	0.413																																						ENST00000359655.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1369-1371)Gaa>Aaa		suppressor of var1, 3-like 1 (S. cerevisiae)							97.0	95.0	96.0					10																	70960106		2203	4300	6503	SO:0001583	missense	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70960106G>A	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.1369G>A	10.37:g.70960106G>A	ENSP00000352678:p.Glu457Lys						p.E457K	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN			11	1429	+			457			Helicase C-terminal.		A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	c.1369G>A	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393905	0.62066	.	.	ENSG00000156502	ENST00000359655;ENST00000422378	T;T	0.42513	0.97;1.43	5.61	4.71	0.59529	Helicase, C-terminal (3);	0.100143	0.64402	D	0.000002	T	0.33498	0.0865	N	0.20881	0.62	0.58432	D	0.999995	B	0.21452	0.056	B	0.29077	0.098	T	0.06481	-1.0824	10	0.25751	T	0.34	-9.2723	16.6548	0.85225	0.0:0.1298:0.8702:0.0	.	457	Q8IYB8	SUV3_HUMAN	K	457;263	ENSP00000352678:E457K;ENSP00000409072:E263K	ENSP00000352678:E457K	E	+	1	0	SUPV3L1	70630112	1.000000	0.71417	0.994000	0.49952	0.706000	0.40770	6.377000	0.73145	1.362000	0.46000	0.557000	0.71058	GAA		0.413	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		22	73	0	0	0	0.021523	0	22	73				
FNDC4	64838	broad.mit.edu	37	2	27715571	27715571	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:27715571C>A	ENST00000264703.3	-	6	1022	c.631G>T	c.(631-633)Gaa>Taa	p.E211*	IFT172_ENST00000359466.6_5'Flank|IFT172_ENST00000260570.3_5'Flank|IFT172_ENST00000416524.2_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	211						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGACTCTGTTCCGGCCCCTTT	0.552																																						ENST00000264703.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9						c.(631-633)Gaa>Taa		fibronectin type III domain containing 4							141.0	132.0	135.0					2																	27715571		2203	4300	6503	SO:0001587	stop_gained	64838					integral to membrane		g.chr2:27715571C>A	AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"""Fibronectin type III domain containing"""	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.631G>T	2.37:g.27715571C>A	ENSP00000264703:p.Glu211*						p.E211*	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN			6	1022	-	Acute lymphoblastic leukemia(172;0.155)		211					D6W560	Nonsense_Mutation	SNP	ENST00000264703.3	37	c.631G>T	CCDS1756.1	.	.	.	.	.	.	.	.	.	.	C	36	5.634543	0.96682	.	.	ENSG00000115226	ENST00000264703	.	.	.	5.09	4.2	0.49525	.	0.372794	0.26824	N	0.022314	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.4718	13.5394	0.61664	0.1573:0.8427:0.0:0.0	.	.	.	.	X	211	.	ENSP00000264703:E211X	E	-	1	0	FNDC4	27569075	0.997000	0.39634	0.066000	0.19879	0.959000	0.62525	4.579000	0.60936	1.109000	0.41680	0.563000	0.77884	GAA		0.552	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215031.1	NM_022823		21	61	1	0	1.55795e-14	0.012319	2.16849e-14	21	61				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	12	0	0	0	0.009096	0	3	12				
EGF	1950	broad.mit.edu	37	4	110866357	110866357	+	Missense_Mutation	SNP	T	T	A	rs139711858		TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr4:110866357T>A	ENST00000265171.5	+	5	1311	c.866T>A	c.(865-867)tTt>tAt	p.F289Y	EGF_ENST00000509793.1_Missense_Mutation_p.F289Y|EGF_ENST00000503392.1_Missense_Mutation_p.F289Y	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	289					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CATTCATCATTTGTACCACTT	0.448																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(865-867)tTt>tAt		epidermal growth factor	Sulindac(DB00605)						132.0	107.0	116.0					4																	110866357		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110866357T>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.866T>A	4.37:g.110866357T>A	ENSP00000265171:p.Phe289Tyr					EGF_ENST00000503392.1_Missense_Mutation_p.F289Y|EGF_ENST00000509793.1_Missense_Mutation_p.F289Y	p.F289Y	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	5	1311	+		Hepatocellular(203;0.0893)	289					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.866T>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.759747	0.31137	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.16457	2.34;2.34;2.34	5.0	-2.42	0.06542	Six-bladed beta-propeller, TolB-like (1);	0.976214	0.08476	N	0.940250	T	0.20618	0.0496	L	0.59912	1.85	0.09310	N	1	P;P;P	0.47106	0.824;0.89;0.725	B;P;B	0.49999	0.424;0.628;0.424	T	0.23332	-1.0191	10	0.22109	T	0.4	.	5.7767	0.18283	0.0:0.2698:0.2351:0.495	.	289;289;289	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	Y	289	ENSP00000424316:F289Y;ENSP00000265171:F289Y;ENSP00000421384:F289Y	ENSP00000265171:F289Y	F	+	2	0	EGF	111085806	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	0.272000	0.18644	-0.714000	0.04975	-0.242000	0.12053	TTT		0.448	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			9	28	0	0	0	0.006214	0	9	28				
KCNF1	3754	broad.mit.edu	37	2	11053827	11053827	+	Silent	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:11053827C>T	ENST00000295082.1	+	1	1765	c.1275C>T	c.(1273-1275)caC>caT	p.H425H		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	425					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CGGCCAAGCACGAGCTGGAGC	0.632																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1273-1275)caC>caT		potassium voltage-gated channel, subfamily F, member 1							73.0	63.0	66.0					2																	11053827		2203	4300	6503	SO:0001819	synonymous_variant	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053827C>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1275C>T	2.37:g.11053827C>T							p.H425H	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1765	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		425					O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	c.1275C>T	CCDS1676.1																																																																																				0.632	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		6	28	0	0	0	0.001168	0	6	28				
DRAXIN	374946	broad.mit.edu	37	1	11766403	11766403	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr1:11766403C>T	ENST00000294485.5	+	2	223	c.88C>T	c.(88-90)Cct>Tct	p.P30S		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		CGCCCTTGCACCTGGGACCCC	0.706																																						ENST00000294485.5																			0											c.(88-90)Cct>Tct		dorsal inhibitory axon guidance protein							23.0	27.0	26.0					1																	11766403		2203	4300	6503	SO:0001583	missense	374946							g.chr1:11766403C>T	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.88C>T	1.37:g.11766403C>T	ENSP00000294485:p.Pro30Ser						p.P30S	NM_198545.3	NP_940947.3					2	223	+									Missense_Mutation	SNP	ENST00000294485.5	37	c.88C>T	CCDS135.1	.	.	.	.	.	.	.	.	.	.	C	4.096	0.015939	0.07959	.	.	ENSG00000162490	ENST00000294485	T	0.39592	1.07	4.6	-0.229	0.13094	.	0.617944	0.14484	N	0.316797	T	0.18173	0.0436	N	0.25144	0.715	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.21999	-1.0229	10	0.05959	T	0.93	-0.5012	1.6329	0.02736	0.1431:0.4132:0.1408:0.3029	.	30	Q8NBI3	DRAXI_HUMAN	S	30	ENSP00000294485:P30S	ENSP00000294485:P30S	P	+	1	0	C1orf187	11688990	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.073000	0.11468	0.336000	0.23639	0.407000	0.27541	CCT		0.706	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545		6	19	0	0	0	0.001984	0	6	19				
TMEM87B	84910	broad.mit.edu	37	2	112821764	112821764	+	Silent	SNP	T	T	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:112821764T>C	ENST00000283206.4	+	3	621	c.252T>C	c.(250-252)ccT>ccC	p.P84P		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	84						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GTTCTGGGCCTGTGAAGTTTA	0.308																																						ENST00000283206.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						c.(250-252)ccT>ccC		transmembrane protein 87B							190.0	191.0	191.0					2																	112821764		2203	4300	6503	SO:0001819	synonymous_variant	84910					integral to membrane		g.chr2:112821764T>C	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.252T>C	2.37:g.112821764T>C							p.P84P	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN			3	621	+			84					A8K2M9|Q1RLN2|Q53R54	Silent	SNP	ENST00000283206.4	37	c.252T>C	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.410779	0.25465	.	.	ENSG00000153214	ENST00000452614	.	.	.	5.52	3.09	0.35607	.	.	.	.	.	T	0.52933	0.1765	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47100	-0.9143	4	.	.	.	-12.8546	5.1648	0.15079	0.0:0.0914:0.1841:0.7245	.	.	.	.	R	42	.	.	C	+	1	0	TMEM87B	112538235	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.273000	0.33121	1.005000	0.39183	0.533000	0.62120	TGT		0.308	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824		3	144	0	0	0	0.004672	0	3	144				
ZNF157	7712	broad.mit.edu	37	X	47272940	47272940	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chrX:47272940A>G	ENST00000377073.3	+	4	1554	c.1468A>G	c.(1468-1470)Aga>Gga	p.R490G		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	490					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGAACATCAGAGAACTCACAT	0.488																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(1468-1470)Aga>Gga		zinc finger protein 157							70.0	61.0	64.0					X																	47272940		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272940A>G	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1468A>G	X.37:g.47272940A>G	ENSP00000366273:p.Arg490Gly						p.R490G	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	1554	+			490					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.1468A>G	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.863499	0.51482	.	.	ENSG00000147117	ENST00000377073	T	0.09911	2.93	3.37	3.37	0.38596	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19725	0.0474	M	0.67569	2.06	0.24826	N	0.992551	D	0.55172	0.97	P	0.50896	0.653	T	0.05632	-1.0873	9	0.87932	D	0	.	9.3702	0.38250	1.0:0.0:0.0:0.0	.	490	P51786	ZN157_HUMAN	G	490	ENSP00000366273:R490G	ENSP00000366273:R490G	R	+	1	2	ZNF157	47157884	0.000000	0.05858	0.937000	0.37676	0.661000	0.39034	0.452000	0.21795	1.564000	0.49628	0.486000	0.48141	AGA		0.488	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		14	46	0	0	0	0.003163	0	14	46				
PCDH17	27253	broad.mit.edu	37	13	58299273	58299273	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr13:58299273C>T	ENST00000377918.3	+	4	3351	c.3325C>T	c.(3325-3327)Cgg>Tgg	p.R1109W		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1109					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1109W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGAGCCAGCCGGGATTCCAG	0.522																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			1	Substitution - Missense(1)	p.R1109W(1)	prostate(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3325-3327)Cgg>Tgg		protocadherin 17							156.0	158.0	157.0					13																	58299273		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299273C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3325C>T	13.37:g.58299273C>T	ENSP00000367151:p.Arg1109Trp						p.R1109W	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3351	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1109					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3325C>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372560	0.42003	.	.	ENSG00000118946	ENST00000377918	T	0.53206	0.63	6.07	5.21	0.72293	.	0.061511	0.64402	D	0.000002	T	0.41511	0.1162	N	0.22421	0.69	0.51233	D	0.999916	D	0.69078	0.997	P	0.47470	0.548	T	0.22068	-1.0227	9	.	.	.	.	16.3571	0.83239	0.1367:0.8633:0.0:0.0	.	1109	O14917	PCD17_HUMAN	W	1109	ENSP00000367151:R1109W	.	R	+	1	2	PCDH17	57197274	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.801000	0.55545	1.515000	0.48885	0.655000	0.94253	CGG		0.522	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		6	203	0	0	0	0.001984	0	6	203				
RGMB	285704	broad.mit.edu	37	5	98115428	98115428	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr5:98115428G>A	ENST00000513185.1	+	2	717	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	RGMB_ENST00000308234.7_Missense_Mutation_p.R135Q|RGMB_ENST00000504776.1_3'UTR			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	94					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TGCACCCAGCGAACTTCAAAA	0.542																																						ENST00000308234.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(403-405)cGa>cAa		repulsive guidance molecule family member b							81.0	83.0	82.0					5																	98115428		1958	4157	6115	SO:0001583	missense	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98115428G>A	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.281G>A	5.37:g.98115428G>A	ENSP00000423256:p.Arg94Gln					RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000513185.1_Missense_Mutation_p.R94Q	p.R135Q	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	4	806	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	94					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.404G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.254060	0.95336	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.97688	-4.49;-4.49	5.55	5.55	0.83447	Repulsive guidance molecule, N-terminal (1);	0.159643	0.52532	D	0.000077	D	0.98814	0.9600	M	0.84326	2.69	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	D	0.99601	1.0978	10	0.72032	D	0.01	-9.3541	19.8634	0.96793	0.0:0.0:1.0:0.0	.	94	Q6NW40	RGMB_HUMAN	Q	135;94	ENSP00000308219:R135Q;ENSP00000423256:R94Q	ENSP00000308219:R135Q	R	+	2	0	RGMB	98143328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.385000	0.73182	2.765000	0.95021	0.563000	0.77884	CGA		0.542	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		11	89	0	0	0	0.008291	0	11	89				
CLN6	54982	broad.mit.edu	37	15	68503628	68503628	+	Missense_Mutation	SNP	T	T	A	rs121908079		TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr15:68503628T>A	ENST00000249806.5	-	5	672	c.515A>T	c.(514-516)tAt>tTt	p.Y172F	RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000538696.1_Missense_Mutation_p.Y204F|CLN6_ENST00000564752.1_Missense_Mutation_p.M181L|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000566347.1_Missense_Mutation_p.Y109F|CLN6_ENST00000418702.2_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	172					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GTACTCATCATAATAGTAGAG	0.602																																						ENST00000249806.5																			0				large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(514-516)tAt>tTt		ceroid-lipofuscinosis, neuronal 6, late infantile, variant							136.0	137.0	136.0					15																	68503628		2200	4298	6498	SO:0001583	missense	54982				cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity	g.chr15:68503628T>A	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.515A>T	15.37:g.68503628T>A	ENSP00000249806:p.Tyr172Phe					CLN6_ENST00000566347.1_Missense_Mutation_p.Y109F|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000564752.1_Missense_Mutation_p.M181L|CLN6_ENST00000418702.2_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000538696.1_Missense_Mutation_p.Y204F	p.Y172F	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN			5	672	-			172					A8K560|B4DDH6|Q6IAB1|Q96SR0	Missense_Mutation	SNP	ENST00000249806.5	37	c.515A>T	CCDS10227.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987545	0.74589	.	.	ENSG00000128973	ENST00000249806;ENST00000538696	D;D	0.95853	-3.83;-3.83	4.42	3.25	0.37280	.	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	M	0.65498	2.005	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.68765	0.915;0.96	D	0.94675	0.7860	10	0.33141	T	0.24	-12.6027	10.1871	0.43004	0.0:0.0811:0.0:0.9188	.	204;172	B4DDH6;Q9NWW5	.;CLN6_HUMAN	F	172;204	ENSP00000249806:Y172F;ENSP00000445770:Y204F	ENSP00000249806:Y172F	Y	-	2	0	CLN6	66290682	1.000000	0.71417	0.986000	0.45419	0.748000	0.42578	5.772000	0.68889	1.846000	0.53633	0.533000	0.62120	TAT		0.602	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	NM_017882		24	65	0	0	0	0.004656	0	24	65				
CTTNBP2	83992	broad.mit.edu	37	7	117351760	117351760	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr7:117351760C>G	ENST00000160373.3	-	23	4914	c.4823G>C	c.(4822-4824)aGa>aCa	p.R1608T	CFTR_ENST00000608965.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1608					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGATTTAACTCTTGAAACACC	0.423																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(4822-4824)aGa>aCa		cortactin binding protein 2							140.0	124.0	129.0					7																	117351760		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117351760C>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4823G>C	7.37:g.117351760C>G	ENSP00000160373:p.Arg1608Thr					CFTR_ENST00000429014.1_Intron	p.R1608T	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	23	4914	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1608					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.4823G>C	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.42|17.42	3.385237|3.385237	0.61956|0.61956	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|T	.|0.71103	.|-0.54	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.239562	.|0.48286	.|D	.|0.000189	T|T	0.72732|0.72732	0.3497|0.3497	M|M	0.83483|0.83483	2.645|2.645	0.33365|0.33365	D|D	0.572834|0.572834	.|P	.|0.38300	.|0.626	.|B	.|0.36186	.|0.219	D|D	0.83794|0.83794	0.0232|0.0232	5|10	.|0.87932	.|D	.|0	-17.8971|-17.8971	13.4247|13.4247	0.61018|0.61018	0.0:0.9286:0.0:0.0714|0.0:0.9286:0.0:0.0714	.|.	.|1608	.|Q8WZ74	.|CTTB2_HUMAN	N|T	1095|1608	.|ENSP00000160373:R1608T	.|ENSP00000160373:R1608T	K|R	-|-	3|2	2|0	CTTNBP2|CTTNBP2	117138996|117138996	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.125000|3.125000	0.50469|0.50469	2.770000|2.770000	0.95276|0.95276	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.423	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		3	71	0	0	0	0.014758	0	3	71				
KDR	3791	broad.mit.edu	37	4	55964338	55964338	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr4:55964338G>T	ENST00000263923.4	-	17	2770	c.2475C>A	c.(2473-2475)agC>agA	p.S825R		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	825					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTCCCATTTGCTGGCATCAT	0.453			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2473-2475)agC>agA		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						116.0	112.0	113.0					4																	55964338		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55964338G>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2475C>A	4.37:g.55964338G>T	ENSP00000263923:p.Ser825Arg	TSP Lung(20;0.16)					p.S825R	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		17	2770	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		825					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2475C>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796802	0.70567	.	.	ENSG00000128052	ENST00000263923	D	0.89123	-2.47	5.86	5.86	0.93980	Protein kinase-like domain (1);	0.170910	0.64402	D	0.000005	D	0.90865	0.7130	M	0.73217	2.22	0.58432	D	0.999999	P	0.52577	0.954	P	0.46758	0.526	D	0.90052	0.4150	10	0.41790	T	0.15	.	20.1707	0.98158	0.0:0.0:1.0:0.0	.	825	P35968	VGFR2_HUMAN	R	825	ENSP00000263923:S825R	ENSP00000263923:S825R	S	-	3	2	KDR	55659095	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.956000	0.87863	2.773000	0.95371	0.655000	0.94253	AGC		0.453	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			14	60	1	0	6.31663e-08	0.003163	8.44951e-08	14	60				
CD2AP	23607	broad.mit.edu	37	6	47501441	47501441	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr6:47501441T>G	ENST00000359314.5	+	3	725	c.269T>G	c.(268-270)cTt>cGt	p.L90R		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	90	Interaction with ANLN and localization to the midbody.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ACCTATGGACTTCCAGCTGGA	0.383																																						ENST00000359314.5																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(268-270)cTt>cGt		CD2-associated protein							93.0	86.0	88.0					6																	47501441		2203	4300	6503	SO:0001583	missense	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47501441T>G	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.269T>G	6.37:g.47501441T>G	ENSP00000352264:p.Leu90Arg						p.L90R	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		3	725	+			90			Interaction with ANLN and localization to the midbody.		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	c.269T>G	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.202216	0.79127	.	.	ENSG00000198087	ENST00000359314	T	0.27890	1.64	5.36	5.36	0.76844	Src homology-3 domain (1);	1.220260	0.05515	N	0.561017	T	0.41026	0.1141	L	0.57536	1.79	0.43628	D	0.99601	D	0.89917	1.0	D	0.76071	0.987	T	0.08330	-1.0727	10	0.17832	T	0.49	-15.3527	13.9307	0.63994	0.0:0.0:0.0:1.0	.	90	Q9Y5K6	CD2AP_HUMAN	R	90	ENSP00000352264:L90R	ENSP00000352264:L90R	L	+	2	0	CD2AP	47609400	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.351000	0.66022	2.033000	0.60031	0.455000	0.32223	CTT		0.383	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			7	20	0	0	0	0.001984	0	7	20				
TEX11	56159	broad.mit.edu	37	X	69826836	69826836	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chrX:69826836C>T	ENST00000395889.2	-	24	2123	c.1968G>A	c.(1966-1968)atG>atA	p.M656I	TEX11_ENST00000344304.3_Missense_Mutation_p.M656I|TEX11_ENST00000374333.2_Missense_Mutation_p.M641I|TEX11_ENST00000374320.2_Missense_Mutation_p.M331I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	656					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAAACTCTCTCATCATCACTG	0.318																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(1966-1968)atG>atA		testis expressed 11							58.0	53.0	54.0					X																	69826836		2202	4292	6494	SO:0001583	missense	56159						protein binding	g.chrX:69826836C>T	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1968G>A	X.37:g.69826836C>T	ENSP00000379226:p.Met656Ile					TEX11_ENST00000374333.2_Missense_Mutation_p.M641I|TEX11_ENST00000344304.3_Missense_Mutation_p.M656I|TEX11_ENST00000374320.2_Missense_Mutation_p.M331I	p.M656I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			24	2123	-	Renal(35;0.156)		656					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.1968G>A	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693014	0.30052	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.1	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	M	0.71581	2.175	0.26580	N	0.973397	P;P	0.46912	0.886;0.818	B;B	0.42555	0.391;0.219	T	0.40496	-0.9560	9	.	.	.	-9.6876	8.2467	0.31693	0.2344:0.7656:0.0:0.0	.	641;656	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	I	641;656;331;656	ENSP00000363453:M641I;ENSP00000379226:M656I;ENSP00000363440:M331I;ENSP00000340995:M656I	.	M	-	3	0	TEX11	69743561	1.000000	0.71417	0.891000	0.34965	0.478000	0.33099	2.103000	0.41806	1.890000	0.54733	0.597000	0.82753	ATG		0.318	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			3	30	0	0	0	0.009096	0	3	30				
GALNT5	11227	broad.mit.edu	37	2	158140861	158140861	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:158140861G>C	ENST00000259056.4	+	2	2007	c.1522G>C	c.(1522-1524)Gtg>Ctg	p.V508L		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	508	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TGTGGATGAAGTGTGGTCCAC	0.488																																						ENST00000259056.4																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(1522-1524)Gtg>Ctg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)							291.0	231.0	251.0					2																	158140861		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158140861G>C	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1522G>C	2.37:g.158140861G>C	ENSP00000259056:p.Val508Leu						p.V508L	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN			2	2007	+			508			Catalytic subdomain A.		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.1522G>C	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288838	0.80914	.	.	ENSG00000136542	ENST00000259056	T	0.59364	0.27	5.45	5.45	0.79879	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	L	0.49571	1.57	0.54753	D	0.99998	B	0.27679	0.185	B	0.28011	0.085	T	0.52895	-0.8514	10	0.44086	T	0.13	.	19.7682	0.96350	0.0:0.0:1.0:0.0	.	508	Q7Z7M9	GALT5_HUMAN	L	508	ENSP00000259056:V508L	ENSP00000259056:V508L	V	+	1	0	GALNT5	157849107	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.785000	0.99042	2.941000	0.99782	0.655000	0.94253	GTG		0.488	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		21	59	0	0	0	0.014323	0	21	59				
ZNF300	91975	broad.mit.edu	37	5	150275429	150275429	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr5:150275429C>A	ENST00000274599.5	-	6	1792	c.1372G>T	c.(1372-1374)Gtt>Ttt	p.V458F	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.V458F|ZNF300_ENST00000446148.2_Missense_Mutation_p.V474F|ZNF300_ENST00000418587.2_Missense_Mutation_p.V422F	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTATGAACTAACTGATGT	0.398																																						ENST00000446148.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(1420-1422)Gtt>Ttt		zinc finger protein 300							81.0	75.0	77.0					5																	150275429		2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150275429C>A	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.1372G>T	5.37:g.150275429C>A	ENSP00000274599:p.Val458Phe					ZNF300_ENST00000394226.2_Missense_Mutation_p.V458F|ZNF300_ENST00000274599.5_Missense_Mutation_p.V458F|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.V422F	p.V474F	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1847	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	458					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.1420G>T	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991632	0.35131	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	3.83	-0.141	0.13452	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15912	0.0383	L	0.33624	1.015	0.24642	N	0.993564	B	0.26876	0.162	B	0.30646	0.118	T	0.30504	-0.9976	9	0.62326	D	0.03	.	7.0392	0.25010	0.0:0.3361:0.0:0.6639	.	458	Q96RE9	ZN300_HUMAN	F	474;458;422;458	ENSP00000397178:V474F;ENSP00000274599:V458F;ENSP00000392593:V422F;ENSP00000377773:V458F	ENSP00000274599:V458F	V	-	1	0	ZNF300	150255622	0.006000	0.16342	0.998000	0.56505	0.977000	0.68977	0.393000	0.20817	-0.082000	0.12640	-0.469000	0.05056	GTT		0.398	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		9	44	1	0	0.000274275	0.004482	0.000353129	9	44				
ZBTB33	10009	broad.mit.edu	37	X	119388597	119388597	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chrX:119388597G>C	ENST00000326624.2	+	2	1555	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H	ZBTB33_ENST00000557385.1_Missense_Mutation_p.D443H	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	443					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGATACTTATGATATAGTGAT	0.413																																						ENST00000326624.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1327-1329)Gat>Cat		zinc finger and BTB domain containing 33							78.0	77.0	77.0					X																	119388597		2203	4300	6503	SO:0001583	missense	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119388597G>C	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1327G>C	X.37:g.119388597G>C	ENSP00000314153:p.Asp443His					ZBTB33_ENST00000557385.1_Missense_Mutation_p.D443H	p.D443H	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN			2	1555	+			443					B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	c.1327G>C	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072225	0.55646	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.13538	2.58;2.58	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.04930	-1.0917	10	0.59425	D	0.04	-13.6162	17.3941	0.87440	0.0:0.0:1.0:0.0	.	443	Q86T24	KAISO_HUMAN	H	443	ENSP00000314153:D443H;ENSP00000450969:D443H	ENSP00000314153:D443H	D	+	1	0	ZBTB33;AC002086.1	119272625	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.420000	0.97426	2.408000	0.81797	0.513000	0.50165	GAT		0.413	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		13	85	0	0	0	0.016723	0	13	85				
KMT2D	8085	broad.mit.edu	37	12	49434776	49434776	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr12:49434776C>G	ENST00000301067.7	-	31	6776	c.6777G>C	c.(6775-6777)gaG>gaC	p.E2259D		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2259	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)										CCCCAGGGCTCTCAGGCACAG	0.637																																						ENST00000301067.7																			0											c.(6775-6777)gaG>gaC		lysine (K)-specific methyltransferase 2D							39.0	44.0	43.0					12																	49434776		1905	4110	6015	SO:0001583	missense	8085							g.chr12:49434776C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6777G>C	12.37:g.49434776C>G	ENSP00000301067:p.Glu2259Asp						p.E2259D	NM_003482.3	NP_003473.3					31	6776	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.6777G>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	9.089	1.001212	0.19121	.	.	ENSG00000167548	ENST00000301067	T	0.80480	-1.38	5.07	4.12	0.48240	.	0.000000	0.39020	N	0.001494	T	0.61590	0.2359	N	0.14661	0.345	0.26101	N	0.980813	P	0.43788	0.817	B	0.36244	0.22	T	0.62220	-0.6900	10	0.87932	D	0	.	8.5055	0.33184	0.0:0.7555:0.1582:0.0863	.	2259	O14686	MLL2_HUMAN	D	2259	ENSP00000301067:E2259D	ENSP00000301067:E2259D	E	-	3	2	MLL2	47721043	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.492000	0.35594	2.536000	0.85505	0.655000	0.94253	GAG		0.637	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	77	0	0	0	0.001168	0	6	77				
CDKN2A	1029	broad.mit.edu	37	9	21971208	21971208	+	Splice_Site	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr9:21971208C>T	ENST00000304494.5	-	2	421		c.e2-1		RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCATCATGACCTGCCAGAGAG	0.667		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1355	Whole gene deletion(1316)|Unknown(38)|Deletion - In frame(1)	p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(277)|skin(175)|central_nervous_system(162)|lung(146)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(60)|soft_tissue(57)|pleura(51)|oesophagus(49)|ovary(34)|kidney(30)|pancreas(30)|breast(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CS014428|CS067079	CDKN2A	S		c.e2-1		cyclin-dependent kinase inhibitor 2A							8.0	9.0	8.0					9																	21971208		2072	4134	6206	SO:0001630	splice_region_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971208C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.151-1G>A	9.37:g.21971208C>T		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site				P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	486	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)						A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	ENST00000304494.5	37		CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392055	0.62066	.	.	ENSG00000147889	ENST00000361570;ENST00000304494;ENST00000530628;ENST00000446177	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0183	0.92902	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21961208	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	6.822000	0.75277	2.781000	0.95711	0.555000	0.69702	.		0.667	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	Intron	8	6	0	0	0	0.004482	0	8	6				
PCED1A	64773	broad.mit.edu	37	20	2816812	2816812	+	Silent	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr20:2816812C>T	ENST00000360652.2	-	7	1492	c.990G>A	c.(988-990)caG>caA	p.Q330Q	PCED1A_ENST00000356872.3_Silent_p.Q279Q	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	330																	gtggcgagggctgaggaagcg	0.607																																						ENST00000360652.2																			0											c.(988-990)caG>caA		PC-esterase domain containing 1A							66.0	73.0	71.0					20																	2816812		2203	4300	6503	SO:0001819	synonymous_variant	64773							g.chr20:2816812C>T	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.990G>A	20.37:g.2816812C>T						PCED1A_ENST00000356872.3_Silent_p.Q279Q	p.Q330Q	NM_022760.3	NP_073597.2					7	1492	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Silent	SNP	ENST00000360652.2	37	c.990G>A	CCDS13035.1																																																																																				0.607	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		12	40	0	0	0	0.010729	0	12	40				
PDHA1	5160	broad.mit.edu	37	X	19373621	19373621	+	Splice_Site	SNP	G	G	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chrX:19373621G>C	ENST00000422285.2	+	7	863	c.758G>C	c.(757-759)aGa>aCa	p.R253T	PDHA1_ENST00000540249.1_Splice_Site_p.R222T|PDHA1_ENST00000545074.1_Splice_Site_p.R260T|PDHA1_ENST00000379806.5_Splice_Site_p.R291T|PDHA1_ENST00000379804.1_5'Flank			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	253					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CCTGGGCTGAGAGTAAGGACA	0.512																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.e8+1		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						85.0	88.0	87.0					X																	19373621		2203	4300	6503	SO:0001630	splice_region_variant	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19373621G>C		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.759+1G>C	X.37:g.19373621G>C						PDHA1_ENST00000422285.2_Splice_Site_p.R253_splice|PDHA1_ENST00000545074.1_Splice_Site_p.R260_splice|PDHA1_ENST00000540249.1_Splice_Site_p.R222_splice	p.R291_splice	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			8	1017	+	Hepatocellular(33;0.183)		253					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Splice_Site	SNP	ENST00000422285.2	37	c.873_splice	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249539	0.80024	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000422285	D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82	5.64	5.64	0.86602	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	L	0.52823	1.66	0.80722	D	1	B;P;P;P;P	0.41159	0.152;0.683;0.698;0.74;0.698	B;P;P;P;P	0.56700	0.217;0.804;0.607;0.627;0.607	D	0.95894	0.8909	10	0.40728	T	0.16	-21.1662	18.9649	0.92692	0.0:0.0:1.0:0.0	.	222;260;253;291;253	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	T	291;260;222;253	ENSP00000369134:R291T;ENSP00000438550:R260T;ENSP00000440761:R222T;ENSP00000394382:R253T	ENSP00000369134:R291T	R	+	2	0	PDHA1	19283542	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	9.476000	0.97823	2.513000	0.84729	0.594000	0.82650	AGA		0.512	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1		Missense_Mutation	8	126	0	0	0	0.003080	0	8	126				
SLC7A7	9056	broad.mit.edu	37	14	23243214	23243214	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr14:23243214C>T	ENST00000397532.3	-	9	1882	c.1357G>A	c.(1357-1359)Ggc>Agc	p.G453S	SLC7A7_ENST00000397528.4_Missense_Mutation_p.G453S|SLC7A7_ENST00000555702.1_Missense_Mutation_p.G453S|SLC7A7_ENST00000554517.1_Missense_Mutation_p.G187S|SLC7A7_ENST00000397529.2_Missense_Mutation_p.G453S|SLC7A7_ENST00000285850.7_Missense_Mutation_p.G453S|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	453					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AAGGGCAGGCCTGAGAGGGCA	0.522																																						ENST00000397532.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(1357-1359)Ggc>Agc		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							124.0	117.0	119.0					14																	23243214		2203	4300	6503	SO:0001583	missense	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23243214C>T	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1357G>A	14.37:g.23243214C>T	ENSP00000380666:p.Gly453Ser					SLC7A7_ENST00000397528.4_Missense_Mutation_p.G453S|SLC7A7_ENST00000555702.1_Missense_Mutation_p.G453S|SLC7A7_ENST00000554517.1_Missense_Mutation_p.G187S|SLC7A7_ENST00000397529.2_Missense_Mutation_p.G453S|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000285850.7_Missense_Mutation_p.G453S	p.G453S			Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	9	1882	-	all_cancers(95;8.44e-05)		453					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	c.1357G>A	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	C	36	5.865370	0.97043	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	D;D;D;D;D;D	0.96716	-3.27;-3.27;-3.27;-3.27;-3.27;-4.1	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98036	1.0379	10	0.46703	T	0.11	.	19.6314	0.95704	0.0:1.0:0.0:0.0	.	453	Q9UM01	YLAT1_HUMAN	S	453;453;453;426;453;453;187	ENSP00000285850:G453S;ENSP00000451881:G453S;ENSP00000380666:G453S;ENSP00000380663:G453S;ENSP00000380662:G453S;ENSP00000452083:G187S	ENSP00000285850:G453S	G	-	1	0	SLC7A7	22313054	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.465000	0.80898	2.937000	0.99478	0.650000	0.86243	GGC		0.522	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			15	45	0	0	0	0.006122	0	15	45				
GIPC1	10755	broad.mit.edu	37	19	14591280	14591280	+	Silent	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr19:14591280G>A	ENST00000393033.4	-	6	761	c.492C>T	c.(490-492)agC>agT	p.S164S	GIPC1_ENST00000393028.1_Silent_p.S67S|GIPC1_ENST00000591349.1_Silent_p.S67S|GIPC1_ENST00000393029.3_Silent_p.S67S|GIPC1_ENST00000586027.1_Silent_p.S164S|GIPC1_ENST00000345425.2_Silent_p.S164S	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	164	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GGTCGATCACGCTGCCCTCCT	0.682											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(33;78 923 2910 41023 52850)	ENST00000393033.4																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(490-492)agC>agT		GIPC PDZ domain containing family, member 1							75.0	76.0	75.0					19																	14591280		2203	4300	6503	SO:0001819	synonymous_variant	10755				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	g.chr19:14591280G>A	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.492C>T	19.37:g.14591280G>A			OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	696	GIPC1_ENST00000345425.2_Silent_p.S164S|GIPC1_ENST00000393028.1_Silent_p.S67S|GIPC1_ENST00000586027.1_Silent_p.S164S|GIPC1_ENST00000393029.3_Silent_p.S67S|GIPC1_ENST00000591349.1_Silent_p.S67S	p.S164S	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN			6	761	-			164			PDZ.		A8K4I3|A8MZG3|Q9BTC9	Silent	SNP	ENST00000393033.4	37	c.492C>T	CCDS12310.1																																																																																				0.682	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			4	67	0	0	0	0.014758	0	4	67				
NHS	4810	broad.mit.edu	37	X	17710476	17710476	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chrX:17710476G>A	ENST00000380060.3	+	3	1078	c.740G>A	c.(739-741)cGc>cAc	p.R247H	NHS_ENST00000398097.3_Missense_Mutation_p.R70H	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	247	WAVE homology domain (WHD).				cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CGGAGCGATCGCCGAGAGCAA	0.527																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(739-741)cGc>cAc		Nance-Horan syndrome (congenital cataracts and dental anomalies)							89.0	81.0	84.0					X																	17710476		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17710476G>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.740G>A	X.37:g.17710476G>A	ENSP00000369400:p.Arg247His					NHS_ENST00000398097.3_Missense_Mutation_p.R70H	p.R247H	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			3	1078	+	Hepatocellular(33;0.183)		247					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.740G>A	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108037	0.77096	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.48522	0.81;0.87	5.55	4.67	0.58626	.	0.194878	0.50627	D	0.000101	T	0.51058	0.1652	M	0.73598	2.24	0.28599	N	0.909259	B;B;B;D	0.58620	0.054;0.054;0.022;0.983	B;B;B;P	0.48488	0.011;0.011;0.007;0.579	T	0.54938	-0.8218	10	0.41790	T	0.15	-15.5648	7.8125	0.29239	0.1741:0.0:0.8259:0.0	.	247;68;70;247	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	H	247;70;68	ENSP00000369400:R247H;ENSP00000381170:R70H	ENSP00000369397:R68H	R	+	2	0	NHS	17620397	0.998000	0.40836	0.952000	0.39060	0.968000	0.65278	2.970000	0.49240	2.562000	0.86427	0.600000	0.82982	CGC		0.527	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		28	65	0	0	0	0.007291	0	28	65				
ZGRF1	55345	broad.mit.edu	37	4	113533743	113533743	+	Splice_Site	SNP	C	C	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr4:113533743C>G	ENST00000505019.1	-	7	2729	c.2604G>C	c.(2602-2604)gtG>gtC	p.V868V	C4orf21_ENST00000309071.5_Splice_Site_p.V868V|C4orf21_ENST00000445203.2_Splice_Site_p.V837V	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		868						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATGGTTTCCTCACTGTAATGG	0.284																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.e7-1		chromosome 4 open reading frame 21							77.0	78.0	77.0					4																	113533743		2203	4299	6502	SO:0001630	splice_region_variant	55345							g.chr4:113533743C>G																												ENST00000505019.1:c.2603-1G>C	4.37:g.113533743C>G						C4orf21_ENST00000309071.5_Splice_Site_p.V868_splice|C4orf21_ENST00000445203.2_Splice_Site_p.V837_splice	p.V868_splice	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	7	2729	-		Ovarian(17;0.156)	868					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Splice_Site	SNP	ENST00000505019.1	37	c.2602_splice																																																																																					0.284	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1		Silent	5	27	0	0	0	0.014758	0	5	27				
PCDHB17	54661	broad.mit.edu	37	5	140536957	140536957	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr5:140536957G>T	ENST00000539533.1	+	1	1381	c.1381G>T	c.(1381-1383)Gtc>Ttc	p.V461F						protocadherin beta 17 pseudogene																		CACCCTGTTCGTCCGCGAGAA	0.622																																						ENST00000539533.1																			0											c.(1381-1383)Gtc>Ttc																																						SO:0001583	missense	54661							g.chr5:140536957G>T	AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1381G>T	5.37:g.140536957G>T	ENSP00000438685:p.Val461Phe						p.V461F							1	1381	+									Missense_Mutation	SNP	ENST00000539533.1	37	c.1381G>T		.	.	.	.	.	.	.	.	.	.	G	12.04	1.817885	0.32145	.	.	ENSG00000255622	ENST00000539533	T	0.57436	0.4	5.29	2.33	0.28932	.	.	.	.	.	T	0.42854	0.1221	.	.	.	.	.	.	D	0.63046	0.992	B	0.43916	0.436	T	0.53085	-0.8488	7	0.87932	D	0	.	3.5045	0.07685	0.1443:0.2438:0.487:0.125	.	461	Q96T98	.	F	461	ENSP00000438685:V461F	ENSP00000438685:V461F	V	+	1	0	AC005754.1	140517141	0.000000	0.05858	0.198000	0.23420	0.947000	0.59692	-0.539000	0.06113	0.721000	0.32231	0.485000	0.47835	GTC		0.622	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				23	137	1	0	2.21704e-12	0.016522	3.00467e-12	23	137				
EYA1	2138	broad.mit.edu	37	8	72267106	72267106	+	Missense_Mutation	SNP	C	C	T	rs74720958		TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr8:72267106C>T	ENST00000340726.3	-	3	674	c.35G>A	c.(34-36)cGt>cAt	p.R12H	EYA1_ENST00000388743.2_Missense_Mutation_p.R12H|EYA1_ENST00000419131.1_Missense_Mutation_p.R12H|EYA1_ENST00000303824.7_Missense_Mutation_p.R12H|EYA1_ENST00000388740.3_Intron|EYA1_ENST00000388742.4_Missense_Mutation_p.R12H|EYA1_ENST00000388741.2_Intron	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	12					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ACCACTCAGACGGCTATGCGG	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18975	0.0		0.0	False		,,,				2504	0.0					ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(34-36)cGt>cAt		eyes absent homolog 1 (Drosophila)		C	HIS/ARG,HIS/ARG,HIS/ARG,	0,4406		0,0,2203	174.0	173.0	173.0		35,35,35,	5.7	1.0	8	dbSNP_131	173	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,intron	EYA1	NM_000503.4,NM_172058.2,NM_172059.2,NM_172060.2	29,29,29,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,	12/593,12/593,12/558,	72267106	1,13005	2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72267106C>T	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.35G>A	8.37:g.72267106C>T	ENSP00000342626:p.Arg12His					EYA1_ENST00000388742.4_Missense_Mutation_p.R12H|EYA1_ENST00000303824.7_Missense_Mutation_p.R12H|EYA1_ENST00000388743.2_Missense_Mutation_p.R12H|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000419131.1_Missense_Mutation_p.R12H|EYA1_ENST00000388740.3_Intron	p.R12H	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		3	674	-	Breast(64;0.046)		12					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.35G>A	CCDS34906.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	29.3	4.997357	0.93227	0.0	1.16E-4	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000303824;ENST00000388743;ENST00000419131	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67646	0.2915	N	0.19112	0.55	0.80722	D	1	D;D;D	0.71674	0.957;0.957;0.998	P;P;D	0.65010	0.706;0.706;0.931	T	0.69209	-0.5205	10	0.48119	T	0.1	-10.1583	19.8148	0.96562	0.0:1.0:0.0:0.0	.	12;12;12	A6NCB9;Q99502;G5E9R4	.;EYA1_HUMAN;.	H	12	ENSP00000373394:R12H;ENSP00000342626:R12H;ENSP00000303221:R12H;ENSP00000373395:R12H;ENSP00000410176:R12H	ENSP00000303221:R12H	R	-	2	0	EYA1	72429660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.990000	0.56965	2.687000	0.91594	0.650000	0.86243	CGT		0.458	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		51	125	0	0	0	0.014410	0	51	125				
RNF19A	25897	broad.mit.edu	37	8	101299799	101299799	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr8:101299799C>T	ENST00000519449.1	-	3	920	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	RNF19A_ENST00000341084.2_Missense_Mutation_p.E202K	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	202					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATAAATTCTTCGTATTTTTCC	0.388																																						ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(604-606)Gaa>Aaa		ring finger protein 19A, RBR E3 ubiquitin protein ligase							118.0	116.0	117.0					8																	101299799		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101299799C>T	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.604G>A	8.37:g.101299799C>T	ENSP00000428968:p.Glu202Lys					RNF19A_ENST00000341084.2_Missense_Mutation_p.E202K	p.E202K	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		3	920	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		202					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.604G>A	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201129	0.94997	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	T;T	0.80994	-1.44;-1.44	5.44	5.44	0.79542	Zinc finger, C6HC-type (2);	0.052808	0.85682	D	0.000000	D	0.89480	0.6727	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89910	0.4051	10	0.62326	D	0.03	.	18.8805	0.92354	0.0:1.0:0.0:0.0	.	202	Q9NV58	RN19A_HUMAN	K	202	ENSP00000428968:E202K;ENSP00000342667:E202K	ENSP00000342667:E202K	E	-	1	0	RNF19A	101368975	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.537000	0.85549	0.557000	0.71058	GAA		0.388	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		7	96	0	0	0	0.001984	0	7	96				
CSMD3	114788	broad.mit.edu	37	8	113349858	113349858	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr8:113349858G>T	ENST00000297405.5	-	43	6999	c.6755C>A	c.(6754-6756)cCa>cAa	p.P2252Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.P2148Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2182Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2212Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2252	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGTATCCTGGGAAACATTC	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(6754-6756)cCa>cAa		CUB and Sushi multiple domains 3							106.0	107.0	107.0					8																	113349858		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113349858G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6755C>A	8.37:g.113349858G>T	ENSP00000297405:p.Pro2252Gln	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.P2182Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2212Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2148Q	p.P2252Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			43	6999	-			2252			Sushi 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6755C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771070	0.69992	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.074335	0.53938	D	0.000044	T	0.75598	0.3871	L	0.46947	1.48	0.80722	D	1	P;B;D	0.89917	0.498;0.051;1.0	B;B;D	0.87578	0.253;0.098;0.998	T	0.76044	-0.3103	10	0.66056	D	0.02	.	19.4929	0.95059	0.0:0.0:1.0:0.0	.	2148;2252;2212	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	2212;2252;1522;2148;2182	ENSP00000345799:P2212Q;ENSP00000297405:P2252Q;ENSP00000341558:P1522Q;ENSP00000412263:P2148Q;ENSP00000343124:P2182Q	ENSP00000297405:P2252Q	P	-	2	0	CSMD3	113419034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.835000	0.97688	0.650000	0.86243	CCA		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	106	1	0	0.00024832	0.009096	0.000323759	4	106				
AHDC1	27245	broad.mit.edu	37	1	27874932	27874932	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr1:27874932C>T	ENST00000247087.5	-	5	4291	c.3695G>A	c.(3694-3696)gGc>gAc	p.G1232D	AHDC1_ENST00000374011.2_Missense_Mutation_p.G1232D			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1232							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCGTCCACGGCCCGGCTTGGA	0.607																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(3694-3696)gGc>gAc		AT hook, DNA binding motif, containing 1							41.0	47.0	45.0					1																	27874932		2203	4300	6503	SO:0001583	missense	27245						DNA binding	g.chr1:27874932C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3695G>A	1.37:g.27874932C>T	ENSP00000247087:p.Gly1232Asp					AHDC1_ENST00000247087.5_Missense_Mutation_p.G1232D|AHDC1_ENST00000482400.2_Intron	p.G1232D	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	4663	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1232					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.3695G>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647837	0.67358	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.71934	-0.61;-0.61	5.53	4.59	0.56863	.	0.235256	0.29253	N	0.012697	T	0.73552	0.3601	L	0.27053	0.805	0.58432	D	0.999999	D	0.67145	0.996	P	0.62740	0.906	T	0.77186	-0.2680	10	0.87932	D	0	-16.1158	15.3855	0.74695	0.0:0.8607:0.1393:0.0	.	1232	Q5TGY3	AHDC1_HUMAN	D	1232	ENSP00000247087:G1232D;ENSP00000363123:G1232D	ENSP00000247087:G1232D	G	-	2	0	AHDC1	27747519	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	7.178000	0.77657	2.596000	0.87737	0.591000	0.81541	GGC		0.607	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			8	25	0	0	0	0.006214	0	8	25				
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr17:7577568C>A	ENST00000269305.4	-	7	902	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C238F	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		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)	ENST00000420246.2		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"""		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(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	GRCh37	CM034930	TP53	M		c.(712-714)tGt>tTt	Other conserved DNA damage response genes	tumor protein p53							132.0	103.0	113.0					17																	7577568		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577568C>A	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.713G>T	17.37:g.7577568C>A	ENSP00000269305:p.Cys238Phe	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_ENST00000269305.4_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F	p.C238F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	845	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (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.713G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262614	0.80358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	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	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238F;ENSP00000352610:C238F;ENSP00000269305:C238F;ENSP00000398846:C238F;ENSP00000391127:C238F;ENSP00000391478:C238F;ENSP00000425104:C106F;ENSP00000423862:C145F	ENSP00000269305:C238F	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		30	48	1	0	5.60225e-13	0.009535	7.69376e-13	30	48				
LMO7	4008	broad.mit.edu	37	13	76419476	76419476	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr13:76419476T>C	ENST00000321797.8	+	24	4133	c.3412T>C	c.(3412-3414)Tct>Cct	p.S1138P	LMO7_ENST00000377534.3_Missense_Mutation_p.S1423P|LMO7_ENST00000341547.4_Missense_Mutation_p.S1089P|LMO7_ENST00000465261.2_Missense_Mutation_p.S1138P|LMO7_ENST00000357063.3_Missense_Mutation_p.S1423P|LMO7_ENST00000526202.1_Missense_Mutation_p.S1015P			Q8WWI1	LMO7_HUMAN	LIM domain 7	1423					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TAAATCCAGATCTACTACTGA	0.313																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(4267-4269)Tct>Cct		LIM domain 7							64.0	65.0	65.0					13																	76419476		2201	4294	6495	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76419476T>C	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3412T>C	13.37:g.76419476T>C	ENSP00000317802:p.Ser1138Pro					LMO7_ENST00000377534.3_Missense_Mutation_p.S1423P|LMO7_ENST00000341547.4_Missense_Mutation_p.S1089P|LMO7_ENST00000526202.1_Missense_Mutation_p.S1015P|LMO7_ENST00000465261.2_Missense_Mutation_p.S1138P|LMO7_ENST00000321797.8_Missense_Mutation_p.S1138P	p.S1423P			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	27	5527	+		Breast(118;0.0992)	1423					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.4267T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.5|24.5	4.542775|4.542775	0.85917|0.85917	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000447038|ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261	.|T;T;T;T;T;T;T	.|0.62364	.|1.34;0.81;0.83;0.03;0.78;0.77;0.32	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.666605	.|0.16020	.|N	.|0.233380	T|T	0.80481|0.80481	0.4631|0.4631	M|M	0.81942|0.81942	2.565|2.565	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D	.|0.89917	.|0.998;1.0;0.999;0.998;1.0	.|D;D;D;D;D	.|0.87578	.|0.994;0.998;0.99;0.99;0.998	T|T	0.81376|0.81376	-0.0961|-0.0961	5|10	.|0.62326	.|D	.|0.03	-15.5054|-15.5054	14.6941|14.6941	0.69107|0.69107	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1015;1089;1423;1138;1371	.|E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5	.|.;.;LMO7_HUMAN;.;.	T|P	1046|1089;1423;1423;1037;1138;1015;1138	.|ENSP00000342112:S1089P;ENSP00000349571:S1423P;ENSP00000366757:S1423P;ENSP00000366719:S1037P;ENSP00000317802:S1138P;ENSP00000431129:S1015P;ENSP00000433352:S1138P	.|ENSP00000317802:S1138P	I|S	+|+	2|1	0|0	LMO7|LMO7	75317477|75317477	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.974000|0.974000	0.67602|0.67602	4.860000|4.860000	0.62961|0.62961	2.202000|2.202000	0.70862|0.70862	0.533000|0.533000	0.62120|0.62120	ATC|TCT		0.313	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		6	16	0	0	0	0.001984	0	6	16				
AFAP1	60312	broad.mit.edu	37	4	7774605	7774605	+	Missense_Mutation	SNP	G	G	A	rs375573107		TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr4:7774605G>A	ENST00000360265.4	-	14	2177	c.1943C>T	c.(1942-1944)gCg>gTg	p.A648V	AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.A732V|AFAP1_ENST00000358461.2_Missense_Mutation_p.A648V|AFAP1_ENST00000420658.1_Missense_Mutation_p.A732V			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	648						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GACTCCGCCCGCCAGCGCTTT	0.657																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(2194-2196)gCg>gTg		actin filament associated protein 1		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	45.0	49.0	48.0		2195,1943	4.9	0.9	4		48	0,8600		0,0,4300	no	missense,missense	AFAP1	NM_001134647.1,NM_198595.2	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	732/815,648/731	7774605	1,13005	2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7774605G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1943C>T	4.37:g.7774605G>A	ENSP00000353402:p.Ala648Val					AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.A648V|AFAP1_ENST00000360265.4_Missense_Mutation_p.A648V|AFAP1_ENST00000382543.3_Missense_Mutation_p.A732V	p.A732V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			16	2467	-			652					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.2195C>T	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515912	0.85495	2.27E-4	0.0	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.21932	2.05;1.98;2.05;1.98	4.9	4.9	0.64082	.	0.178689	0.49305	D	0.000152	T	0.46776	0.1410	M	0.73217	2.22	0.47009	D	0.999285	D;D	0.89917	0.978;1.0	B;D	0.68353	0.357;0.957	T	0.50508	-0.8820	10	0.72032	D	0.01	-28.9904	18.0557	0.89363	0.0:0.0:1.0:0.0	.	732;648	E9PDT7;Q8N556	.;AFAP1_HUMAN	V	648;732;648;732	ENSP00000353402:A648V;ENSP00000410689:A732V;ENSP00000351245:A648V;ENSP00000371983:A732V	ENSP00000351245:A648V	A	-	2	0	AFAP1	7825505	0.998000	0.40836	0.925000	0.36789	0.841000	0.47740	2.788000	0.47806	2.255000	0.74692	0.436000	0.28706	GCG		0.657	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		4	35	0	0	0	0.014758	0	4	35				
SEMA7A	8482	broad.mit.edu	37	15	74709052	74709052	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr15:74709052G>C	ENST00000261918.4	-	7	1213	c.665C>G	c.(664-666)cCa>cGa	p.P222R	SEMA7A_ENST00000542748.1_Missense_Mutation_p.P57R|SEMA7A_ENST00000543145.2_Missense_Mutation_p.P208R	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	222	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GATGAACTGTGGGTCTGCCAG	0.567																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(664-666)cCa>cGa		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							255.0	233.0	241.0					15																	74709052		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74709052G>C	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.665C>G	15.37:g.74709052G>C	ENSP00000261918:p.Pro222Arg					SEMA7A_ENST00000543145.2_Missense_Mutation_p.P208R|SEMA7A_ENST00000542748.1_Missense_Mutation_p.P57R	p.P222R	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			7	1213	-			222			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.665C>G	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557761	0.86231	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.25250	1.81;1.81;1.81	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.61912	0.2385	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72007	-0.4420	10	0.87932	D	0	-15.9167	16.9441	0.86226	0.0:0.0:1.0:0.0	.	208;222	F5H1S0;O75326	.;SEM7A_HUMAN	R	222;208;57	ENSP00000261918:P222R;ENSP00000438966:P208R;ENSP00000441493:P57R	ENSP00000261918:P222R	P	-	2	0	SEMA7A	72496105	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	7.000000	0.76290	2.525000	0.85131	0.655000	0.94253	CCA		0.567	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		22	84	0	0	0	0.021523	0	22	84				
LIMK1	3984	broad.mit.edu	37	7	73523259	73523259	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr7:73523259C>T	ENST00000336180.2	+	10	1228	c.1177C>T	c.(1177-1179)Cac>Tac	p.H393Y	LIMK1_ENST00000538333.3_Missense_Mutation_p.H359Y|LIMK1_ENST00000418310.1_Missense_Mutation_p.H423Y	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	393	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	ATGCCTGGAACACCCCAACGT	0.587																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(1267-1269)Cac>Tac		LIM domain kinase 1							114.0	91.0	99.0					7																	73523259		2203	4300	6503	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73523259C>T	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1177C>T	7.37:g.73523259C>T	ENSP00000336740:p.His393Tyr					LIMK1_ENST00000538333.3_Missense_Mutation_p.H359Y|LIMK1_ENST00000336180.2_Missense_Mutation_p.H393Y	p.H423Y			P53667	LIMK1_HUMAN			10	1369	+		Lung NSC(55;0.137)	393			Protein kinase.		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.1267C>T	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662309	0.88251	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.73363	-0.74;-0.74;-0.74	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90789	0.7108	H	0.96805	3.885	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.998	P;D;D	0.77004	0.859;0.989;0.989	D	0.93758	0.7064	10	0.87932	D	0	-40.4835	16.3479	0.83151	0.0:1.0:0.0:0.0	.	288;359;393	Q59FA3;B7Z6I8;P53667	.;.;LIMK1_HUMAN	Y	423;393;393;359	ENSP00000409717:H423Y;ENSP00000336740:H393Y;ENSP00000444452:H359Y	ENSP00000336740:H393Y	H	+	1	0	LIMK1	73161195	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.402000	0.79972	2.453000	0.82957	0.549000	0.68633	CAC		0.587	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		18	36	0	0	0	0.007413	0	18	36				
PTGS2	5743	broad.mit.edu	37	1	186648488	186648488	+	Silent	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr1:186648488G>A	ENST00000367468.5	-	2	271	c.135C>T	c.(133-135)acC>acT	p.T45T	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	45	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	ATCCTGTCCGGGTACAATCGC	0.443																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(133-135)acC>acT		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						138.0	117.0	124.0					1																	186648488		2203	4300	6503	SO:0001819	synonymous_variant	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186648488G>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.135C>T	1.37:g.186648488G>A						PTGS2_ENST00000490885.2_5'UTR	p.T45T	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			2	271	-			45			EGF-like.		A8K802|Q16876	Silent	SNP	ENST00000367468.5	37	c.135C>T	CCDS1371.1																																																																																				0.443	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		19	30	0	0	0	0.012319	0	19	30				
LIN54	132660	broad.mit.edu	37	4	83849335	83849335	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr4:83849335C>G	ENST00000340417.3	-	13	2547	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	LIN54_ENST00000505905.1_5'UTR|LIN54_ENST00000510557.1_Missense_Mutation_p.E503Q|LIN54_ENST00000395283.2_Missense_Mutation_p.E635Q|LIN54_ENST00000442461.2_Missense_Mutation_p.E503Q|LIN54_ENST00000446851.2_Missense_Mutation_p.E503Q|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000505397.1_Missense_Mutation_p.E724Q|LIN54_ENST00000506560.1_Missense_Mutation_p.E635Q	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	724					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CCGAATTCCTCAAGTATCATC	0.468																																						ENST00000340417.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(2170-2172)Gag>Cag		lin-54 homolog (C. elegans)							158.0	127.0	137.0					4																	83849335		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83849335C>G	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.2170G>C	4.37:g.83849335C>G	ENSP00000341947:p.Glu724Gln					LIN54_ENST00000510557.1_Missense_Mutation_p.E503Q|LIN54_ENST00000506560.1_Missense_Mutation_p.E635Q|LIN54_ENST00000505397.1_Missense_Mutation_p.E724Q|LIN54_ENST00000446851.2_Missense_Mutation_p.E503Q|LIN54_ENST00000442461.2_Missense_Mutation_p.E503Q|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.E635Q|LIN54_ENST00000505905.1_5'UTR	p.E724Q	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN			13	2547	-		Hepatocellular(203;0.114)	724					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.2170G>C	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374957	0.82573	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.67700	2.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.78409	-0.2215	9	0.56958	D	0.05	-19.4939	20.452	0.99131	0.0:1.0:0.0:0.0	.	635;596;724	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	Q	724;635;503;503;503;635;724	.	ENSP00000341947:E724Q	E	-	1	0	LIN54	84068359	1.000000	0.71417	0.990000	0.47175	0.770000	0.43624	5.919000	0.70005	2.838000	0.97847	0.591000	0.81541	GAG		0.468	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		4	76	0	0	0	0.001168	0	4	76				
SNHG5	387066	broad.mit.edu	37	6	86387071	86387071	+	RNA	SNP	A	A	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr6:86387071A>C	ENST00000384338.1	-	0	15				SNHG5_ENST00000364995.1_RNA	NR_002743.2				small nucleolar RNA host gene 5 (non-protein coding)																		GGTTCGGGATAAGATCATCAC	0.343																																						ENST00000384338.1																			0																				80.0	77.0	78.0					6																	86387071		876	1991	2867			387066							g.chr6:86387071A>C	BC009220		6q14.3	2012-10-19	2008-08-14	2006-07-31	ENSG00000203875	ENSG00000203875		"""Long non-coding RNAs"", ""-"""	21026	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 44"", ""long intergenic non-protein coding RNA 44"""	613263	"""chromosome 6 open reading frame 160"""	C6orf160		10792466	Standard	NR_003038		Approved	MGC16362, bA33E24.2, U50HG, NCRNA00044, LINC00044	uc003plb.4		OTTHUMG00000015144		6.37:g.86387071A>C								NR_002743.2						0	15	-									RNA	SNP	ENST00000384338.1	37																																																																																						0.343	SNHG5-202	KNOWN	basic	snoRNA	processed_transcript		NR_003038		4	41	0	0	0	0.014758	0	4	41				
FUBP1	8880	broad.mit.edu	37	1	78433858	78433858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr1:78433858G>A	ENST00000370768.2	-	3	322	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Q102*|FUBP1_ENST00000370767.1_Nonsense_Mutation_p.Q81*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	81					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CAGTCATTTTGAGGAGCAACT	0.313			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(241-243)Caa>Taa		far upstream element (FUSE) binding protein 1							94.0	92.0	93.0					1																	78433858		2202	4294	6496	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78433858G>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.241C>T	1.37:g.78433858G>A	ENSP00000359804:p.Gln81*					FUBP1_ENST00000370768.2_Nonsense_Mutation_p.Q81*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Q102*	p.Q81*			Q96AE4	FUBP1_HUMAN			3	328	-			81					Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.241C>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589003	0.86851	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	.	.	.	5.85	5.85	0.93711	.	0.275084	0.36234	N	0.002709	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-8.0483	20.1601	0.98131	0.0:0.0:1.0:0.0	.	.	.	.	X	81;81;81;81;102;102	.	ENSP00000294623:Q81X	Q	-	1	0	FUBP1	78206446	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.778000	0.75043	2.765000	0.95021	0.563000	0.77884	CAA		0.313	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		6	28	0	0	0	0.001168	0	6	28				
RBM34	23029	broad.mit.edu	37	1	235324259	235324259	+	Silent	SNP	G	G	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr1:235324259G>C	ENST00000408888.3	-	2	407	c.177C>G	c.(175-177)ctC>ctG	p.L59L	RBM34_ENST00000366606.3_Silent_p.L54L			P42696	RBM34_HUMAN	RNA binding motif protein 34	59						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GAGAACTGAAGAGGGACGCCA	0.567																																						ENST00000408888.3																			0				central_nervous_system(1)	1						c.(175-177)ctC>ctG		RNA binding motif protein 34							50.0	53.0	52.0					1																	235324259		1921	4121	6042	SO:0001819	synonymous_variant	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235324259G>C		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.177C>G	1.37:g.235324259G>C						RBM34_ENST00000366606.3_Silent_p.L54L	p.L59L			P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		2	407	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	59					A8K8J7|Q8N2Z8|Q9H5A1	Silent	SNP	ENST00000408888.3	37	c.177C>G	CCDS41477.2																																																																																				0.567	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		9	45	0	0	0	0.006214	0	9	45				
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	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						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				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						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96.0	95.0	96.0					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	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.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	76	0	0	0	0.004672	0	3	76				
GTSE1	51512	broad.mit.edu	37	22	46725347	46725347	+	Silent	SNP	C	C	T	rs61737807	byFrequency	TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr22:46725347C>T	ENST00000454366.1	+	11	2231	c.2019C>T	c.(2017-2019)tgC>tgT	p.C673C		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	654					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.C654C(1)|p.C673C(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TCGACTTCTGCGATACCCCAG	0.507																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			2	Substitution - coding silent(2)	p.C654C(1)|p.C673C(1)	endometrium(2)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(2017-2019)tgC>tgT		G-2 and S-phase expressed 1		C		1,4405	2.1+/-5.4	0,1,2202	155.0	147.0	150.0		2019	2.7	0.0	22	dbSNP_129	150	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GTSE1	NM_016426.6		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		673/740	46725347	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46725347C>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.2019C>T	22.37:g.46725347C>T							p.C673C	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	11	2231	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	654					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Silent	SNP	ENST00000454366.1	37	c.2019C>T	CCDS14074.2																																																																																				0.507	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		40	133	0	0	0	0.011902	0	40	133				
BMPR2	659	broad.mit.edu	37	2	203332371	203332371	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:203332371A>G	ENST00000374580.4	+	3	916	c.377A>G	c.(376-378)aAc>aGc	p.N126S	BMPR2_ENST00000374574.2_Missense_Mutation_p.N126S|BMPR2_ENST00000479069.1_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	126					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TGTAATGTCAACTTTACTGAG	0.368																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(376-378)aAc>aGc		bone morphogenetic protein receptor, type II (serine/threonine kinase)							155.0	137.0	143.0					2																	203332371		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203332371A>G	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.377A>G	2.37:g.203332371A>G	ENSP00000363708:p.Asn126Ser					BMPR2_ENST00000479069.1_3'UTR|BMPR2_ENST00000374574.2_Missense_Mutation_p.N126S	p.N126S	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			3	916	+			126					Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.377A>G	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515320	0.85389	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.98889	-5.21;-5.21	5.38	5.38	0.77491	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.99048	0.9674	M	0.81497	2.545	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.99712	1.1007	10	0.56958	D	0.05	.	15.3775	0.74621	1.0:0.0:0.0:0.0	.	126;126;126	Q13161;Q13873;A8K8R5	.;BMPR2_HUMAN;.	S	126	ENSP00000363708:N126S;ENSP00000363702:N126S	ENSP00000363702:N126S	N	+	2	0	BMPR2	203040616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.715000	0.84713	2.037000	0.60232	0.533000	0.62120	AAC		0.368	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		14	32	0	0	0	0.020292	0	14	32				
FXR1	8087	broad.mit.edu	37	3	180693130	180693130	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr3:180693130G>A	ENST00000357559.4	+	16	2017	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	FXR1_ENST00000480918.1_Missense_Mutation_p.E532K|FXR1_ENST00000305586.7_Missense_Mutation_p.E460K|FXR1_ENST00000445140.2_Intron|FXR1_ENST00000491062.1_Intron|FXR1_ENST00000468861.1_Intron	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	545					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TTCTAGAGCTGAGTCTCAGAG	0.308																																						ENST00000357559.4																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(1633-1635)Gag>Aag		fragile X mental retardation, autosomal homolog 1							28.0	30.0	29.0					3																	180693130		2185	4293	6478	SO:0001583	missense	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180693130G>A	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1633G>A	3.37:g.180693130G>A	ENSP00000350170:p.Glu545Lys					FXR1_ENST00000468861.1_Intron|FXR1_ENST00000491062.1_Intron|FXR1_ENST00000445140.2_Intron|FXR1_ENST00000480918.1_Missense_Mutation_p.E532K|FXR1_ENST00000305586.7_Missense_Mutation_p.E460K	p.E545K	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		16	2017	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		545					A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.1633G>A	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177323	0.78564	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000480918	T;T;T	0.37411	1.43;1.21;1.2	5.72	5.72	0.89469	.	0.091207	0.64402	D	0.000001	T	0.56470	0.1987	L	0.50333	1.59	0.80722	D	1	P;D;P	0.58268	0.952;0.982;0.675	P;D;B	0.67548	0.53;0.952;0.122	T	0.54503	-0.8284	10	0.62326	D	0.03	-27.6323	19.855	0.96755	0.0:0.0:1.0:0.0	.	532;489;545	B4DXZ6;E7ERF5;P51114	.;.;FXR1_HUMAN	K	545;460;532	ENSP00000350170:E545K;ENSP00000307633:E460K;ENSP00000418097:E532K	ENSP00000307633:E460K	E	+	1	0	FXR1	182175824	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.699000	0.92147	0.609000	0.83330	GAG		0.308	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			3	10	0	0	0	0.009096	0	3	10				
LRP1B	53353	broad.mit.edu	37	2	141474362	141474362	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:141474362C>G	ENST00000389484.3	-	36	6753	c.5782G>C	c.(5782-5784)Gac>Cac	p.D1928H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1928					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGCCCATGTCTGTCCAGTAG	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5782-5784)Gac>Cac		low density lipoprotein receptor-related protein 1B							119.0	113.0	115.0					2																	141474362		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141474362C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5782G>C	2.37:g.141474362C>G	ENSP00000374135:p.Asp1928His	TSP Lung(27;0.18)					p.D1928H	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	36	6753	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1928					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5782G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718614	0.89205	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93859	-3.3	5.47	5.47	0.80525	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	U	0.000000	D	0.97445	0.9164	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98045	1.0384	10	0.87932	D	0	.	19.3164	0.94215	0.0:1.0:0.0:0.0	.	1928	Q9NZR2	LRP1B_HUMAN	H	1928;1866	ENSP00000374135:D1928H	ENSP00000374135:D1928H	D	-	1	0	LRP1B	141190832	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.642000	0.83385	2.572000	0.86782	0.460000	0.39030	GAC		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	77	0	0	0	0.014758	0	3	77				
SCN3A	6328	broad.mit.edu	37	2	165987855	165987855	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:165987855C>G	ENST00000360093.3	-	16	2955	c.2464G>C	c.(2464-2466)Gaa>Caa	p.E822Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.E773Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E822Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	822					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCCAGCCTTCTTGGAAATAG	0.393																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(2464-2466)Gaa>Caa		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						109.0	110.0	110.0					2																	165987855		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165987855C>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2464G>C	2.37:g.165987855C>G	ENSP00000353206:p.Glu822Gln					SCN3A_ENST00000409101.3_Missense_Mutation_p.E773Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E822Q	p.E822Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			16	2955	-			822					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.2464G>C		.	.	.	.	.	.	.	.	.	.	C	12.20	1.867176	0.32977	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	5.82	5.82	0.92795	Ion transport (1);	0.000000	0.64402	D	0.000017	D	0.96528	0.8867	N	0.12471	0.22	0.80722	D	1	P;B;B;B;P	0.38078	0.465;0.024;0.019;0.019;0.617	B;B;B;B;P	0.48141	0.274;0.029;0.017;0.017;0.568	D	0.95538	0.8609	10	0.28530	T	0.3	.	20.0938	0.97831	0.0:1.0:0.0:0.0	.	822;773;773;773;822	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Q	822;822;773;773	ENSP00000353206:E822Q;ENSP00000283254:E822Q;ENSP00000386726:E773Q;ENSP00000403348:E773Q	ENSP00000283254:E822Q	E	-	1	0	SCN3A	165696101	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.769000	0.62300	2.757000	0.94681	0.585000	0.79938	GAA		0.393	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		13	76	0	0	0	0.016723	0	13	76				
GTF3C1	2975	broad.mit.edu	37	16	27561047	27561047	+	Silent	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr16:27561047C>T	ENST00000356183.4	-	1	180	c.165G>A	c.(163-165)ccG>ccA	p.P55P	GTF3C1_ENST00000561623.1_Silent_p.P55P|KIAA0556_ENST00000261588.4_5'Flank	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	55					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGCTGATGCCCGGGTGCGTGG	0.731																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(163-165)ccG>ccA		general transcription factor IIIC, polypeptide 1, alpha 220kDa							9.0	12.0	11.0					16																	27561047		2168	4257	6425	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27561047C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.165G>A	16.37:g.27561047C>T						GTF3C1_ENST00000561623.1_Silent_p.P55P	p.P55P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			1	180	-			55					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.165G>A	CCDS32414.1																																																																																				0.731	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		4	28	0	0	0	0.014758	0	4	28				
IGHV1-69	28461	broad.mit.edu	37	14	107170012	107170012	+	RNA	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr14:107170012G>A	ENST00000390633.2	-	0	330									immunoglobulin heavy variable 1-69																		ATTTGTCCGCGGTAATCGTGA	0.547																																						ENST00000390633.2																			0																				307.0	251.0	270.0					14																	107170012		2097	4202	6299			28461							g.chr14:107170012G>A	L22582		14q32.33	2012-02-10			ENSG00000211973	ENSG00000211973		"""Immunoglobulins / IGH locus"""	5558	other	immunoglobulin gene				IGHV1-E		8469934	Standard	NG_001019		Approved				OTTHUMG00000151862		14.37:g.107170012G>A														0	330	-									RNA	SNP	ENST00000390633.2	37																																																																																						0.547	IGHV1-69-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324207.1	NG_001019		47	327	0	0	0	0.011902	0	47	327				
BMPER	168667	broad.mit.edu	37	7	34118794	34118794	+	Silent	SNP	A	A	G	rs576645032		TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr7:34118794A>G	ENST00000297161.2	+	13	1778	c.1404A>G	c.(1402-1404)aaA>aaG	p.K468K	BMPER_ENST00000426693.1_Silent_p.K468K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	468	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGACCACCAAAGCAGGTGGGG	0.622																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1402-1404)aaA>aaG		BMP binding endothelial regulator							38.0	41.0	40.0					7																	34118794		2192	4289	6481	SO:0001819	synonymous_variant	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34118794A>G		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1404A>G	7.37:g.34118794A>G						BMPER_ENST00000426693.1_Silent_p.K468K	p.K468K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN			13	1778	+			468			VWFD.		A8K1P8|Q8TF36	Silent	SNP	ENST00000297161.2	37	c.1404A>G	CCDS5442.1																																																																																				0.622	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		12	59	0	0	0	0.010729	0	12	59				
ACAD10	80724	broad.mit.edu	37	12	112150388	112150388	+	Silent	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr12:112150388G>A	ENST00000313698.4	+	6	932	c.777G>A	c.(775-777)gtG>gtA	p.V259V	ACAD10_ENST00000455480.2_Silent_p.V290V|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.V259V|ACAD10_ENST00000392636.2_5'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	259						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTCGGCCTGTGAAAAAGACGA	0.438																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(868-870)gtG>gtA		acyl-CoA dehydrogenase family, member 10							147.0	160.0	156.0					12																	112150388		2203	4300	6503	SO:0001819	synonymous_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112150388G>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.777G>A	12.37:g.112150388G>A						ACAD10_ENST00000549590.1_Silent_p.V259V|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Silent_p.V259V|ACAD10_ENST00000392636.2_5'UTR	p.V290V	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			7	1047	+			259					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	c.870G>A	CCDS31903.1																																																																																				0.438	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		26	206	0	0	0	0.004656	0	26	206				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	97	0	0	0	0.009096	0	3	97				
DIAPH3	81624	broad.mit.edu	37	13	60545216	60545216	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr13:60545216G>A	ENST00000400324.4	-	16	1949	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	DIAPH3_ENST00000400320.1_Missense_Mutation_p.P531S|DIAPH3_ENST00000400319.1_Missense_Mutation_p.P507S|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P577S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P577S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P566S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	577	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GGAGGCGGAGGAGGAAGTGCT	0.552																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1729-1731)Cct>Tct		diaphanous-related formin 3							21.0	27.0	25.0					13																	60545216		1938	4131	6069	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60545216G>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1729C>T	13.37:g.60545216G>A	ENSP00000383178:p.Pro577Ser					DIAPH3_ENST00000377908.2_Missense_Mutation_p.P566S|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.P507S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P577S|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P531S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P577S	p.P577S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	16	1949	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	577			FH1.|Pro-rich.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.1729C>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886463	0.51908	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.52	3.77	0.43336	.	1.191740	0.05725	N	0.598557	T	0.41026	0.1141	M	0.63843	1.955	0.33486	D	0.588115	B;B;B	0.16166	0.016;0.001;0.001	B;B;B	0.14578	0.011;0.007;0.005	T	0.37267	-0.9713	10	0.27785	T	0.31	.	6.1689	0.20406	0.0711:0.1343:0.6552:0.1394	.	314;314;577	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	S	577;577;566;531;507;566;507;531;577;314;577	ENSP00000383178:P577S;ENSP00000383184:P577S;ENSP00000367141:P566S;ENSP00000383173:P507S;ENSP00000383174:P531S;ENSP00000267215:P577S	ENSP00000267214:P314S	P	-	1	0	DIAPH3	59443217	1.000000	0.71417	0.528000	0.27938	0.795000	0.44927	2.927000	0.48900	0.698000	0.31739	0.555000	0.69702	CCT		0.552	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		5	31	0	0	0	0.014758	0	5	31				
OR5H15	403274	broad.mit.edu	37	3	97887879	97887879	+	Silent	SNP	T	T	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr3:97887879T>C	ENST00000356526.2	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C112C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCACAGAATGTTTTCTCTTGG	0.378																																						ENST00000356526.2																			1	Substitution - coding silent(1)	p.C112C(1)	lung(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(334-336)tgT>tgC		olfactory receptor, family 5, subfamily H, member 15							119.0	117.0	117.0					3																	97887879		2203	4298	6501	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887879T>C		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.336T>C	3.37:g.97887879T>C							p.C112C	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	336	+			112						Silent	SNP	ENST00000356526.2	37	c.336T>C	CCDS33799.1																																																																																				0.378	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			3	156	0	0	0	0.004672	0	3	156				
TEAD1	7003	broad.mit.edu	37	11	12901270	12901270	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr11:12901270G>T	ENST00000526600.1	+	1	281	c.58G>T	c.(58-60)Gat>Tat	p.D20Y	TEAD1_ENST00000527575.1_Missense_Mutation_p.D116Y|TEAD1_ENST00000334310.6_Missense_Mutation_p.D105Y|TEAD1_ENST00000361905.4_Missense_Mutation_p.D101Y|TEAD1_ENST00000361985.2_Missense_Mutation_p.D116Y|TEAD1_ENST00000527636.1_Missense_Mutation_p.D116Y			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	116					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GACTGCAAAGGATAAGGCCCT	0.562																																						ENST00000361905.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(301-303)Gat>Tat		TEA domain family member 1 (SV40 transcriptional enhancer factor)							97.0	81.0	86.0					11																	12901270		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12901270G>T	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.58G>T	11.37:g.12901270G>T	ENSP00000435393:p.Asp20Tyr					TEAD1_ENST00000526600.1_Missense_Mutation_p.D20Y|TEAD1_ENST00000361985.2_Missense_Mutation_p.D116Y|TEAD1_ENST00000334310.6_Missense_Mutation_p.D105Y|TEAD1_ENST00000527636.1_Missense_Mutation_p.D116Y|TEAD1_ENST00000527575.1_Missense_Mutation_p.D116Y	p.D101Y	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	6	966	+			116					A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	37	c.301G>T		.	.	.	.	.	.	.	.	.	.	G	27.3	4.822891	0.90873	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	M	0.84326	2.69	0.80722	D	1	D;D	0.64830	0.994;0.989	D;D	0.73380	0.98;0.964	T	0.75263	-0.3379	10	0.87932	D	0	0.6158	20.2233	0.98332	0.0:0.0:1.0:0.0	.	20;116	E9PKB7;P28347	.;TEAD1_HUMAN	Y	101;116;116;105;116;20	ENSP00000355332:D101Y;ENSP00000435233:D116Y;ENSP00000435977:D116Y;ENSP00000334754:D105Y;ENSP00000354588:D116Y;ENSP00000435393:D20Y	ENSP00000334754:D105Y	D	+	1	0	TEAD1	12857846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.871000	0.98454	0.655000	0.94253	GAT		0.562	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		5	62	1	0	2.0095e-06	0.001984	2.65357e-06	5	62				
WDR54	84058	broad.mit.edu	37	2	74653510	74653510	+	IGR	SNP	T	T	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:74653510T>C	ENST00000348227.4	+	0	1147				RTKN_ENST00000272430.5_Missense_Mutation_p.T518A|RTKN_ENST00000305557.5_Missense_Mutation_p.T505A|RTKN_ENST00000233330.6_Missense_Mutation_p.T468A	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						AGGGAAAAGGTTCGGGGTCTC	0.677																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1513-1515)Acc>Gcc		rhotekin							34.0	43.0	40.0					2																	74653510		2197	4292	6489	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74653510T>C	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74653510T>C						RTKN_ENST00000233330.6_Missense_Mutation_p.T468A|RTKN_ENST00000272430.5_Missense_Mutation_p.T518A	p.T505A	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			13	2098	-			518			Pro-rich.		D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.1513A>G	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970592	0.74246	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.34072	1.38;1.39;1.4	5.17	5.17	0.71159	.	0.057100	0.64402	D	0.000002	T	0.37156	0.0993	L	0.32530	0.975	0.39108	D	0.961423	D;D	0.67145	0.996;0.967	P;P	0.55391	0.708;0.775	T	0.12142	-1.0559	10	0.13853	T	0.58	.	11.3342	0.49494	0.0:0.0:0.0:1.0	.	518;505	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	A	505;518;468	ENSP00000305298:T505A;ENSP00000272430:T518A;ENSP00000233330:T468A	ENSP00000233330:T468A	T	-	1	0	RTKN	74507018	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.720000	0.47252	2.181000	0.69327	0.460000	0.39030	ACC		0.677	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		23	80	0	0	0	0.014323	0	23	80				
EPHA4	2043	broad.mit.edu	37	2	222321461	222321461	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:222321461C>T	ENST00000281821.2	-	7	1516	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	EPHA4_ENST00000392071.4_Missense_Mutation_p.R441Q|EPHA4_ENST00000409938.1_Missense_Mutation_p.R492Q|EPHA4_ENST00000409854.1_Missense_Mutation_p.R492Q	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	492	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGCAGCTGTCCGAACTATACG	0.468																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1474-1476)cGg>cAg		EPH receptor A4							131.0	115.0	120.0					2																	222321461		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222321461C>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1475G>A	2.37:g.222321461C>T	ENSP00000281821:p.Arg492Gln					EPHA4_ENST00000409938.1_Missense_Mutation_p.R492Q|EPHA4_ENST00000392071.4_Missense_Mutation_p.R441Q|EPHA4_ENST00000409854.1_Missense_Mutation_p.R492Q	p.R492Q	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	7	1516	-		Renal(207;0.0183)	492			Fibronectin type-III 2.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.1475G>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757723	0.69648	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.049258	0.85682	D	0.000000	T	0.54319	0.1851	L	0.58810	1.83	0.39356	D	0.965844	B	0.32382	0.368	B	0.36959	0.237	T	0.60073	-0.7334	10	0.62326	D	0.03	.	7.743	0.28851	0.0:0.811:0.0:0.189	.	492	P54764	EPHA4_HUMAN	Q	492;492;492;441	ENSP00000281821:R492Q;ENSP00000386276:R492Q;ENSP00000386829:R492Q;ENSP00000375923:R441Q	ENSP00000281821:R492Q	R	-	2	0	EPHA4	222029705	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	4.700000	0.61803	2.793000	0.96121	0.655000	0.94253	CGG		0.468	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			14	65	0	0	0	0.004007	0	14	65				
HSD17B4	3295	broad.mit.edu	37	5	118872146	118872146	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr5:118872146A>C	ENST00000256216.6	+	23	2155	c.2022A>C	c.(2020-2022)aaA>aaC	p.K674N	HSD17B4_ENST00000509514.1_Missense_Mutation_p.K412N|HSD17B4_ENST00000513628.1_Missense_Mutation_p.K537N|HSD17B4_ENST00000515320.1_Missense_Mutation_p.K656N|HSD17B4_ENST00000504811.1_Missense_Mutation_p.K699N|HSD17B4_ENST00000414835.2_Missense_Mutation_p.K534N|HSD17B4_ENST00000510025.1_Missense_Mutation_p.K650N|HSD17B4_ENST00000522415.1_3'UTR	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	674	SCP2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GTTCTGGAAAAGTGTACCAAG	0.418																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(2095-2097)aaA>aaC		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						103.0	96.0	98.0					5																	118872146		2202	4299	6501	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118872146A>C		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.2022A>C	5.37:g.118872146A>C	ENSP00000256216:p.Lys674Asn					HSD17B4_ENST00000515320.1_Missense_Mutation_p.K656N|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000256216.6_Missense_Mutation_p.K674N|HSD17B4_ENST00000509514.1_Missense_Mutation_p.K412N|HSD17B4_ENST00000513628.1_Missense_Mutation_p.K537N|HSD17B4_ENST00000414835.2_Missense_Mutation_p.K534N|HSD17B4_ENST00000510025.1_Missense_Mutation_p.K650N	p.K699N	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	24	2281	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	674			SCP2.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.2097A>C	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859284	0.32884	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.86	-0.584	0.11702	SCP2 sterol-binding domain (2);	0.620832	0.18004	N	0.154816	T	0.21267	0.0512	L	0.58810	1.83	0.09310	N	1	B;B;B;B;P	0.34615	0.341;0.004;0.019;0.004;0.459	B;B;B;B;B	0.30495	0.104;0.012;0.02;0.012;0.116	T	0.12142	-1.0559	9	.	.	.	-2.2427	11.0172	0.47696	0.5584:0.0:0.4416:0.0	.	699;656;650;412;674	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	N	674;656;650;699;534;537;412	ENSP00000256216:K674N;ENSP00000424613:K656N;ENSP00000424940:K650N;ENSP00000420914:K699N;ENSP00000411960:K534N;ENSP00000425993:K537N;ENSP00000426272:K412N	.	K	+	3	2	HSD17B4	118900045	0.016000	0.18221	0.006000	0.13384	0.995000	0.86356	-0.141000	0.10327	-0.058000	0.13177	0.533000	0.62120	AAA		0.418	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		11	43	0	0	0	0.020292	0	11	43				
C14orf37	145407	broad.mit.edu	37	14	58605875	58605875	+	Silent	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr14:58605875G>A	ENST00000267485.7	-	2	396	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	68						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GAGACCACCAGTTGGGGAGTC	0.453																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(202-204)Ctg>Ttg		chromosome 14 open reading frame 37							222.0	220.0	221.0					14																	58605875		2203	4300	6503	SO:0001819	synonymous_variant	145407					integral to membrane	binding	g.chr14:58605875G>A		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.202C>T	14.37:g.58605875G>A						C14orf37_ENST00000334342.5_5'UTR	p.L68L	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	396	-			68					A8K8Z8|Q6P5Q1|Q86TY1	Silent	SNP	ENST00000267485.7	37	c.202C>T	CCDS32089.1																																																																																				0.453	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		40	136	0	0	0	0.006999	0	40	136				
DDIAS	220042	broad.mit.edu	37	11	82644784	82644784	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr11:82644784G>C	ENST00000533655.1	+	6	2616	c.2404G>C	c.(2404-2406)Gat>Cat	p.D802H	C11orf82_ENST00000329143.3_Missense_Mutation_p.D501H|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.D802H	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		802					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TTCAGATCTTGATGGTAACTA	0.363																																						ENST00000533655.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(2404-2406)Gat>Cat		chromosome 11 open reading frame 82							32.0	34.0	33.0					11																	82644784		2198	4296	6494	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82644784G>C																												ENST00000533655.1:c.2404G>C	11.37:g.82644784G>C	ENSP00000435421:p.Asp802His					C11orf82_ENST00000430323.2_Missense_Mutation_p.D802H|C11orf82_ENST00000329143.3_Missense_Mutation_p.D501H|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR	p.D802H	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN			6	2616	+			802					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.2404G>C	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	7.450	0.642542	0.14451	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.19532	2.4;2.4;2.14	6.16	0.704	0.18121	.	0.469142	0.20268	N	0.095735	T	0.28433	0.0703	L	0.57536	1.79	0.09310	N	1	D	0.69078	0.997	P	0.56865	0.808	T	0.05178	-1.0901	9	.	.	.	.	5.2906	0.15725	0.3197:0.0:0.5356:0.1447	.	802	Q8IXT1	NOXIN_HUMAN	H	802;802;501	ENSP00000414687:D802H;ENSP00000435421:D802H;ENSP00000329930:D501H	.	D	+	1	0	C11orf82	82322432	0.000000	0.05858	0.475000	0.27278	0.033000	0.12548	-0.516000	0.06282	0.476000	0.27440	-0.145000	0.13849	GAT		0.363	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			3	23	0	0	0	0.004672	0	3	23				
HGD	3081	broad.mit.edu	37	3	120394679	120394679	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr3:120394679G>A	ENST00000283871.5	-	2	506	c.47C>T	c.(46-48)tCa>tTa	p.S16L	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	16					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGGATCCTCTGAAGAACACTC	0.438																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(46-48)tCa>tTa		homogentisate 1,2-dioxygenase							113.0	108.0	110.0					3																	120394679		2203	4296	6499	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120394679G>A		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.47C>T	3.37:g.120394679G>A	ENSP00000283871:p.Ser16Leu					HGD_ENST00000488183.1_5'UTR	p.S16L	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	2	506	-			16					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.47C>T	CCDS3000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.441560|5.441560	0.96187|0.96187	.|.	.|.	ENSG00000113924|ENSG00000113924	ENST00000476082|ENST00000283871	.|D	.|0.99232	.|-5.6	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Cupin, RmlC-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.99594	.|0.9853	H|H	0.94345|0.94345	3.525|3.525	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	.|D	.|0.98113	.|1.0421	.|10	0.52906|0.87932	T|D	0.07|0	-21.8731|-21.8731	17.5818|17.5818	0.87970|0.87970	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|16	.|Q93099	.|HGD_HUMAN	X|L	5|16	.|ENSP00000283871:S16L	ENSP00000419560:Q5X|ENSP00000283871:S16L	Q|S	-|-	1|2	0|0	HGD|HGD	121877369|121877369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.184000|8.184000	0.89702|0.89702	2.739000|2.739000	0.93911|0.93911	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.438	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			23	76	0	0	0	0.021523	0	23	76				
A1CF	29974	broad.mit.edu	37	10	52576013	52576013	+	Silent	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr10:52576013G>A	ENST00000373993.1	-	7	938	c.894C>T	c.(892-894)gtC>gtT	p.V298V	A1CF_ENST00000395489.2_Silent_p.V291V|ASAH2B_ENST00000483649.1_3'UTR|A1CF_ENST00000395495.1_Silent_p.V243V|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Silent_p.V298V|A1CF_ENST00000373995.3_Silent_p.V306V|A1CF_ENST00000374001.2_Silent_p.V298V|A1CF_ENST00000373997.3_Silent_p.V298V			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	298	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTGCTAGGGTGACTTCAATGG	0.478																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(871-873)gtC>gtT		APOBEC1 complementation factor							106.0	107.0	107.0					10																	52576013		2203	4300	6503	SO:0001819	synonymous_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52576013G>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.894C>T	10.37:g.52576013G>A						A1CF_ENST00000374001.1_Silent_p.V298V|A1CF_ENST00000373995.3_Silent_p.V306V|A1CF_ENST00000373993.1_Silent_p.V298V|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373997.3_Silent_p.V298V|ASAH2B_ENST00000483649.1_3'UTR|A1CF_ENST00000395495.1_Silent_p.V243V|A1CF_ENST00000282641.2_Silent_p.V298V	p.V291V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			11	1269	-			298			RRM 3.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	c.873C>T	CCDS7242.1																																																																																				0.478	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		16	40	0	0	0	0.006122	0	16	40				
SPATA31D5P	347127	broad.mit.edu	37	9	84532386	84532386	+	RNA	SNP	C	C	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr9:84532386C>G	ENST00000527857.1	+	0	2408					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		ATTGCATGATCCAGAGACATC	0.478																																						ENST00000527857.1																			0																																																			347127							g.chr9:84532386C>G			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532386C>G								NR_026851.1						0	2408	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.478	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		14	74	0	0	0	0.004007	0	14	74				
AHNAK	79026	broad.mit.edu	37	11	62293150	62293150	+	Silent	SNP	T	T	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr11:62293150T>C	ENST00000378024.4	-	5	9013	c.8739A>G	c.(8737-8739)gaA>gaG	p.E2913E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2913					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACATCCACTTCAGGGCCCT	0.517																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(8737-8739)gaA>gaG		AHNAK nucleoprotein							208.0	213.0	211.0					11																	62293150		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62293150T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8739A>G	11.37:g.62293150T>C						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.E2913E	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	9013	-		Melanoma(852;0.155)	2913					A1A586	Silent	SNP	ENST00000378024.4	37	c.8739A>G	CCDS31584.1																																																																																				0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		76	294	0	0	0	0.014410	0	76	294				
SH2D3C	10044	broad.mit.edu	37	9	130507309	130507309	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr9:130507309C>T	ENST00000314830.8	-	7	1447	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	SH2D3C_ENST00000429553.1_Missense_Mutation_p.R91H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R288H|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R377H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R285H|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R287H|SH2D3C_ENST00000471939.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	445				R -> C (in Ref. 1; AAD28246 and 2; AAQ89948). {ECO:0000305}.	JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCACTGGAACGGCGGGCGAC	0.657																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1333-1335)cGt>cAt		SH2 domain containing 3C							28.0	37.0	34.0					9																	130507309		2203	4298	6501	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507309C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1334G>A	9.37:g.130507309C>T	ENSP00000317817:p.Arg445His					SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R91H|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R377H|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R287H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R285H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R288H	p.R445H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			7	1447	-			445	R -> C (in Ref. 1; AAD28246 and 2; AAQ89948).				A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1334G>A	CCDS6877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.85|18.85	3.712083|3.712083	0.68730|0.68730	.|.	.|.	ENSG00000095370|ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830|ENST00000440630	T;T;T;T;T;T|.	0.58940|.	0.3;0.3;0.3;0.3;0.3;0.3|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.104309|.	0.64402|.	D|.	0.000003|.	T|T	0.74604|0.74604	0.3738|0.3738	M|M	0.69823|0.69823	2.125|2.125	0.53688|0.53688	D|D	0.999979|0.999979	D;D;D;D;D|.	0.89917|.	1.0;0.992;0.992;0.996;0.996|.	D;P;P;P;P|.	0.87578|.	0.998;0.539;0.539;0.643;0.643|.	T|T	0.74509|0.74509	-0.3642|-0.3642	10|5	0.31617|.	T|.	0.26|.	-16.6849|-16.6849	17.5083|17.5083	0.87753|0.87753	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	285;445;377;288;287|.	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5|.	.;SH2D3_HUMAN;.;.;.|.	H|I	288;287;377;285;91;445|282	ENSP00000362374:R288H;ENSP00000388536:R287H;ENSP00000362373:R377H;ENSP00000362371:R285H;ENSP00000394632:R91H;ENSP00000317817:R445H|.	ENSP00000317817:R445H|.	R|V	-|-	2|1	0|0	SH2D3C|SH2D3C	129547130|129547130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.542000|0.542000	0.35054|0.35054	3.931000|3.931000	0.56529|0.56529	2.371000|2.371000	0.80710|0.80710	0.462000|0.462000	0.41574|0.41574	CGT|GTT		0.657	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		65	49	0	0	0	0.014410	0	65	49				
ZNF671	79891	broad.mit.edu	37	19	58232120	58232120	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr19:58232120C>T	ENST00000317398.6	-	4	1429	c.1334G>A	c.(1333-1335)aGa>aAa	p.R445K	ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.R347K|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCTGTGAATTCTCCAGTGTAC	0.463																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1333-1335)aGa>aAa		zinc finger protein 671							101.0	91.0	95.0					19																	58232120		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232120C>T		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1334G>A	19.37:g.58232120C>T	ENSP00000321848:p.Arg445Lys					AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.R347K	p.R445K	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1429	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	445					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.1334G>A	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582305	0.46006	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.05513	3.43;3.43	1.88	1.88	0.25563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05090	0.0136	N	0.25286	0.73	0.09310	N	1	B	0.19445	0.036	B	0.20767	0.031	T	0.35649	-0.9780	9	0.38643	T	0.18	.	9.7464	0.40448	0.0:1.0:0.0:0.0	.	445	Q8TAW3	ZN671_HUMAN	K	445;347	ENSP00000321848:R445K;ENSP00000338670:R347K	ENSP00000321848:R445K	R	-	2	0	ZNF671	62923932	0.000000	0.05858	0.603000	0.28903	0.967000	0.64934	-0.558000	0.05978	1.359000	0.45940	0.467000	0.42956	AGA		0.463	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		17	57	0	0	0	0.004007	0	17	57				
DNAH7	56171	broad.mit.edu	37	2	196664030	196664030	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:196664030G>A	ENST00000312428.6	-	55	10443	c.10343C>T	c.(10342-10344)gCt>gTt	p.A3448V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3448	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGGTCATCAGCAAATTTTAG	0.388																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(10342-10344)gCt>gTt		dynein, axonemal, heavy chain 7							122.0	121.0	121.0					2																	196664030		1876	4119	5995	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196664030G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10343C>T	2.37:g.196664030G>A	ENSP00000311273:p.Ala3448Val						p.A3448V	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			55	10443	-			3448			AAA 6 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10343C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183669	0.78677	.	.	ENSG00000118997	ENST00000312428	T	0.12984	2.63	5.2	5.2	0.72013	Dynein heavy chain (1);	0.053672	0.64402	D	0.000001	T	0.44746	0.1308	H	0.96460	3.825	0.80722	D	1	B	0.29909	0.261	B	0.43867	0.434	T	0.56481	-0.7972	10	0.87932	D	0	.	18.5138	0.90928	0.0:0.0:1.0:0.0	.	3448	Q8WXX0	DYH7_HUMAN	V	3448	ENSP00000311273:A3448V	ENSP00000311273:A3448V	A	-	2	0	DNAH7	196372275	1.000000	0.71417	0.985000	0.45067	0.780000	0.44128	6.008000	0.70739	2.688000	0.91661	0.650000	0.86243	GCT		0.388	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	135	0	0	0	0.009096	0	4	135				
PIK3CB	5291	broad.mit.edu	37	3	138383967	138383967	+	Silent	SNP	A	A	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr3:138383967A>C	ENST00000477593.1	-	19	2656	c.2583T>G	c.(2581-2583)gcT>gcG	p.A861A	PIK3CB_ENST00000544716.1_Silent_p.A312A|PIK3CB_ENST00000289153.2_Silent_p.A861A			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	861	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	GCTGAATGTCAGCAATTGTTT	0.448																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(2581-2583)gcT>gcG		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							99.0	88.0	92.0					3																	138383967		2203	4300	6503	SO:0001819	synonymous_variant	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138383967A>C		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2583T>G	3.37:g.138383967A>C						PIK3CB_ENST00000289153.2_Silent_p.A861A|PIK3CB_ENST00000544716.1_Silent_p.A312A	p.A861A			P42338	PK3CB_HUMAN			19	2656	-			861			PI3K/PI4K.		D3DNF0|Q24JU2	Silent	SNP	ENST00000477593.1	37	c.2583T>G	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.382239	0.24944	.	.	ENSG00000051382	ENST00000493568	.	.	.	5.36	-0.441	0.12257	.	.	.	.	.	T	0.40595	0.1123	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24476	-1.0159	4	.	.	.	-16.7542	1.7386	0.02947	0.5088:0.1102:0.1061:0.2748	.	.	.	.	R	493	.	.	L	-	2	0	PIK3CB	139866657	0.997000	0.39634	0.999000	0.59377	0.998000	0.95712	0.385000	0.20685	0.082000	0.17018	0.454000	0.30748	CTG		0.448	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			10	35	0	0	0	0.006214	0	10	35				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	32	0	0	0	0.009096	0	4	32				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			100294341							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	35	0	0	0	0.009096	0	4	35				
SETX	23064	broad.mit.edu	37	9	135203150	135203150	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr9:135203150C>G	ENST00000224140.5	-	10	4017	c.3835G>C	c.(3835-3837)Gag>Cag	p.E1279Q	SETX_ENST00000372169.2_Missense_Mutation_p.E1279Q|SETX_ENST00000393220.1_Missense_Mutation_p.E1279Q	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1279					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GAAGTTGGCTCAGGACACTGA	0.428																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(3835-3837)Gag>Cag		senataxin							132.0	129.0	130.0					9																	135203150		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135203150C>G	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3835G>C	9.37:g.135203150C>G	ENSP00000224140:p.Glu1279Gln					SETX_ENST00000393220.1_Missense_Mutation_p.E1279Q|SETX_ENST00000224140.5_Missense_Mutation_p.E1279Q	p.E1279Q			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	4017	-		Myeloproliferative disorder(178;0.204)	1279					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.3835G>C	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392876	0.62066	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.88664	-2.33;-2.41;-2.03	5.8	5.8	0.92144	.	0.334872	0.29493	N	0.011985	D	0.94208	0.8141	M	0.69823	2.125	0.45995	D	0.998806	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.96;0.982	D	0.94008	0.7281	10	0.62326	D	0.03	.	19.0512	0.93046	0.0:1.0:0.0:0.0	.	1279;1279;1279	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	Q	1279	ENSP00000224140:E1279Q;ENSP00000361242:E1279Q;ENSP00000376913:E1279Q	ENSP00000224140:E1279Q	E	-	1	0	SETX	134192971	0.960000	0.32886	0.984000	0.44739	0.227000	0.25037	2.793000	0.47845	2.741000	0.93983	0.650000	0.86243	GAG		0.428	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		26	177	0	0	0	0.004656	0	26	177				
ANKRD36BP2	645784	broad.mit.edu	37	2	89100762	89100766	+	RNA	DEL	TGAAT	TGAAT	-	rs74666751		TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:89100762_89100766delTGAAT	ENST00000393525.3	+	0	1236_1240									ankyrin repeat domain 36B pseudogene 2																		GGTTGGTAAATGAATTGAATCATTT	0.332																																						ENST00000393525.3																			0																																																			645784							g.chr2:89100762_89100766delTGAAT			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89100767_89100771delTGAAT														0	1236_1240	+									RNA	DEL	ENST00000393525.3	37																																																																																						0.332	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			8	117						8	117	---	---	---	---
CEP85L	387119	broad.mit.edu	37	6	118887049	118887049	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr6:118887049delT	ENST00000368491.3	-	3	1284	c.663delA	c.(661-663)aaafs	p.K221fs	CEP85L_ENST00000368488.5_Frame_Shift_Del_p.K224fs|CEP85L_ENST00000360290.3_Frame_Shift_Del_p.K119fs|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000392500.3_Frame_Shift_Del_p.K224fs|CEP85L_ENST00000419517.2_Frame_Shift_Del_p.K221fs	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	221						centrosome (GO:0005813)|cytoplasm (GO:0005737)											TTGATGACCGTTTTTTATTTA	0.418																																						ENST00000368491.3																			0											c.(661-663)aafs		centrosomal protein 85kDa-like							174.0	167.0	169.0					6																	118887049		2203	4300	6503	SO:0001589	frameshift_variant	387119					centrosome		g.chr6:118887049delT	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.663delA	6.37:g.118887049delT	ENSP00000357477:p.Lys221fs					CEP85L_ENST00000360290.3_Frame_Shift_Del_p.K119fs|CEP85L_ENST00000368488.5_Frame_Shift_Del_p.K224fs|CEP85L_ENST00000419517.2_Frame_Shift_Del_p.K221fs|CEP85L_ENST00000392500.3_Frame_Shift_Del_p.K224fs|CEP85L_ENST00000472713.1_5'UTR	p.K221fs	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			3	1284	-			221					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Frame_Shift_Del	DEL	ENST00000368491.3	37	c.663delA	CCDS43498.1																																																																																				0.418	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		30	88						30	88	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103629803	103629804	+	Start_Codon_Ins	INS	-	-	GCCGCC	rs587780434|rs55656324|rs536610894	byFrequency	TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr7:103629803_103629804insGCCGCC	ENST00000428762.1	-	0	159_160				RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000424685.2_Start_Codon_Ins	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCGCTCCATgccgccgccgc	0.723														3026	0.604233	0.469	0.5663	5008	,	,		7030	0.8185		0.4732	False		,,,				2504	0.728				NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227								reelin																																				SO:0001582	initiator_codon_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103629803_103629804insGCCGCC		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.-4_1dupGGCGGC	7.37:g.103629804_103629809dupGCCGCC						RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000424685.2_Start_Codon_Ins		NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	0	159_160	-								A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Translation_Start_Site	INS	ENST00000428762.1	37		CCDS47680.1																																																																																				0.723	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		2	4						2	4	---	---	---	---
