#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
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	48	0	0	0	1	0	4	48				
CTH	1491	broad.mit.edu	37	1	70904459	70904459	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr1:70904459G>C	ENST00000370938.3	+	11	1285	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q	CTH_ENST00000411986.2_Missense_Mutation_p.E349Q|CTH_ENST00000346806.2_Missense_Mutation_p.E337Q	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGTGGGCTTAGAGGATGAGGA	0.428																																						ENST00000411986.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1045-1047)Gag>Cag		cystathionase (cystathionine gamma-lyase)	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						159.0	146.0	151.0					1																	70904459		2203	4300	6503	SO:0001583	missense	1491				cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	g.chr1:70904459G>C	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.1141G>C	1.37:g.70904459G>C	ENSP00000359976:p.Glu381Gln					CTH_ENST00000346806.2_Missense_Mutation_p.E337Q|CTH_ENST00000370938.3_Missense_Mutation_p.E381Q	p.E349Q	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN			10	1243	+			381					O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	c.1045G>C	CCDS650.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124097	0.94429	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.93488	-3.23;-3.23;-3.23	5.6	5.6	0.85130	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98353	0.9453	H	0.98446	4.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99232	1.0882	10	0.87932	D	0	-6.8923	19.665	0.95890	0.0:0.0:1.0:0.0	.	349;337;381	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	Q	349;381;337	ENSP00000413407:E349Q;ENSP00000359976:E381Q;ENSP00000311554:E337Q	ENSP00000311554:E337Q	E	+	1	0	CTH	70677047	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.192000	0.94947	2.828000	0.97474	0.650000	0.86243	GAG		0.428	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		28	14	0	0	0	1	0	28	14				
MARK4	57787	broad.mit.edu	37	19	45797661	45797661	+	Missense_Mutation	SNP	C	C	T	rs372480258		TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr19:45797661C>T	ENST00000262891.4	+	14	1880	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C	MARK4_ENST00000300843.4_Missense_Mutation_p.R517C	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	517					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTGCACAGAACGCCCGGGGGC	0.592																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1549-1551)Cgc>Tgc		MAP/microtubule affinity-regulating kinase 4		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	67.0	53.0	57.0		1549,1549	4.5	1.0	19		57	0,8600		0,0,4300	no	missense,missense	MARK4	NM_001199867.1,NM_031417.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	517/753,517/689	45797661	1,13005	2203	4300	6503	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45797661C>T	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1549C>T	19.37:g.45797661C>T	ENSP00000262891:p.Arg517Cys					MARK4_ENST00000262891.4_Missense_Mutation_p.R517C	p.R517C	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	14	1846	+		all_neural(266;0.224)|Ovarian(192;0.231)	517					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.1549C>T	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140436	0.77775	2.27E-4	0.0	ENSG00000007047	ENST00000262891;ENST00000300843	T;T	0.50001	0.76;0.76	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000001	T	0.67915	0.2944	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.72707	-0.4212	10	0.87932	D	0	.	14.6711	0.68945	0.0:1.0:0.0:0.0	.	517;517	Q96L34;Q96L34-2	MARK4_HUMAN;.	C	517	ENSP00000262891:R517C;ENSP00000300843:R517C	ENSP00000262891:R517C	R	+	1	0	MARK4	50489501	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	3.752000	0.55172	2.313000	0.78055	0.655000	0.94253	CGC		0.592	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		26	38	0	0	0	1	0	26	38				
DNM1P46	196968	broad.mit.edu	37	15	100332450	100332450	+	RNA	SNP	C	C	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr15:100332450C>T	ENST00000341853.1	-	0	1741				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										AGGGAGCGAGCGGAGAAACTA	0.587																																						ENST00000341853.1																			0																				119.0	118.0	119.0					15																	100332450		876	1991	2867			196968							g.chr15:100332450C>T	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332450C>T								NR_003260.1						0	1741	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.587	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		4	77	0	0	0	1	0	4	77				
TRRAP	8295	broad.mit.edu	37	7	98586584	98586584	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr7:98586584G>A	ENST00000359863.4	+	62	9807	c.9598G>A	c.(9598-9600)Gcc>Acc	p.A3200T	TRRAP_ENST00000446306.3_Missense_Mutation_p.A3171T|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3171T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3200	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAAATACTTAGCCAAGGTGAG	0.522																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(9598-9600)Gcc>Acc		transformation/transcription domain-associated protein							36.0	37.0	36.0					7																	98586584		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98586584G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9598G>A	7.37:g.98586584G>A	ENSP00000352925:p.Ala3200Thr					TRRAP_ENST00000446306.3_Missense_Mutation_p.A3171T|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3171T	p.A3200T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		62	9807	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3200			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9598G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	35	5.462778	0.96257	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.69685	-0.42;-0.42	5.32	5.32	0.75619	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.83266	0.5217	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84540	0.0638	10	0.54805	T	0.06	.	19.0084	0.92861	0.0:0.0:1.0:0.0	.	3171;2910;3200	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	T	3200;3171;3170	ENSP00000352925:A3200T;ENSP00000347733:A3171T	ENSP00000347733:A3171T	A	+	1	0	TRRAP	98424520	1.000000	0.71417	0.963000	0.40424	0.873000	0.50193	9.758000	0.98927	2.489000	0.83994	0.655000	0.94253	GCC		0.522	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		4	13	0	0	0	1	0	4	13				
PCDHA5	56143	broad.mit.edu	37	5	140202503	140202503	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr5:140202503C>A	ENST00000529859.1	+	1	1143	c.1143C>A	c.(1141-1143)aaC>aaA	p.N381K	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.N381K|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.N381K|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	381	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGCCAACGGGCAGGTGA	0.577																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1141-1143)aaC>aaA									121.0	109.0	113.0					5																	140202503		2203	4300	6503	SO:0001583	missense	56143							g.chr5:140202503C>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1143C>A	5.37:g.140202503C>A	ENSP00000436557:p.Asn381Lys					PCDHA5_ENST00000378126.3_Missense_Mutation_p.N381K|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.N381K|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.N381K	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1143	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1143C>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	9.004	0.980793	0.18812	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.59906	0.23;0.23;0.23	3.84	-7.68	0.01268	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81133	0.4759	H	0.96080	3.765	0.22096	N	0.999368	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.991;0.988	T	0.81017	-0.1123	9	0.87932	D	0	.	16.9361	0.86203	0.0:0.6325:0.0:0.3675	.	381;381;381	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	K	381	ENSP00000433416:N381K;ENSP00000436557:N381K;ENSP00000367366:N381K	ENSP00000367366:N381K	N	+	3	2	PCDHA5	140182687	0.000000	0.05858	0.019000	0.16419	0.174000	0.22865	-3.126000	0.00593	-2.197000	0.00750	-1.008000	0.02478	AAC		0.577	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		4	93	1	0	2.56e-06	1	2.72516e-06	4	93				
NOTCH3	4854	broad.mit.edu	37	19	15290911	15290911	+	Missense_Mutation	SNP	C	C	T	rs189545202		TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr19:15290911C>T	ENST00000263388.2	-	20	3374	c.3299G>A	c.(3298-3300)cGt>cAt	p.R1100H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1100	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATATAGCCACGGCAGGTCCC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		16690	0.001		0.0	False		,,,				2504	0.0					ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(3298-3300)cGt>cAt		notch 3		C	HIS/ARG	0,4406		0,0,2203	44.0	43.0	44.0		3299	3.0	0.8	19		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOTCH3	NM_000435.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1100/2322	15290911	1,13005	2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15290911C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3299G>A	19.37:g.15290911C>T	ENSP00000263388:p.Arg1100His						p.R1100H	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		20	3374	-			1100			EGF-like 28.		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.3299G>A	CCDS12326.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.15	2.450343	0.43531	0.0	1.16E-4	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.87729	-2.29	5.08	2.95	0.34219	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.740081	0.10694	N	0.644799	T	0.77485	0.4137	N	0.20357	0.565	0.49483	D	0.999792	B;B	0.21452	0.043;0.056	B;B	0.20955	0.012;0.032	T	0.66508	-0.5906	10	0.39692	T	0.17	.	8.2052	0.31452	0.0:0.7493:0.0:0.2507	.	1051;1100	Q59FL3;Q9UM47	.;NOTC3_HUMAN	H	1100;1050	ENSP00000263388:R1100H	ENSP00000263388:R1100H	R	-	2	0	NOTCH3	15151911	0.000000	0.05858	0.775000	0.31657	0.991000	0.79684	-0.672000	0.05244	0.547000	0.28938	0.655000	0.94253	CGT		0.642	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		11	26	0	0	0	1	0	11	26				
SEMA7A	8482	broad.mit.edu	37	15	74706922	74706922	+	Silent	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr15:74706922G>A	ENST00000261918.4	-	10	1808	c.1260C>T	c.(1258-1260)caC>caT	p.H420H	SEMA7A_ENST00000542748.1_Silent_p.H255H|SEMA7A_ENST00000543145.2_Silent_p.H406H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	420	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						AGGTCTCCCCGTGGCTGGCTT	0.537																																						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.(1258-1260)caC>caT		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							109.0	114.0	112.0					15																	74706922		2197	4296	6493	SO:0001819	synonymous_variant	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.chr15:74706922G>A	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.1260C>T	15.37:g.74706922G>A						SEMA7A_ENST00000543145.2_Silent_p.H406H|SEMA7A_ENST00000542748.1_Silent_p.H255H	p.H420H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			10	1808	-			420			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	c.1260C>T	CCDS10262.1																																																																																				0.537	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		8	134	0	0	0	1	0	8	134				
DNAH17	8632	broad.mit.edu	37	17	76510973	76510973	+	Silent	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr17:76510973G>A	ENST00000585328.1	-	26	4111	c.3987C>T	c.(3985-3987)gcC>gcT	p.A1329A	DNAH17_ENST00000389840.5_Silent_p.A1328A	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1328	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCCCACGAAGGCATCCCAGG	0.532																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(3982-3984)gcC>gcT		dynein, axonemal, heavy chain 17							170.0	173.0	172.0					17																	76510973		2122	4242	6364	SO:0001819	synonymous_variant	8632							g.chr17:76510973G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.3987C>T	17.37:g.76510973G>A						DNAH17_ENST00000585328.1_Silent_p.A1329A	p.A1328A					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		26	4108	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.3984C>T																																																																																					0.532	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		8	93	0	0	0	1	0	8	93				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	76	0	0	0	1	0	4	76				
CASC4	113201	broad.mit.edu	37	15	44673018	44673018	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr15:44673018C>T	ENST00000345795.2	+	8	1186	c.916C>T	c.(916-918)Cac>Tac	p.H306Y	CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000299957.6_Missense_Mutation_p.H306Y	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	306						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ACACATAAACCACAATGGAAA	0.343																																						ENST00000299957.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(916-918)Cac>Tac		cancer susceptibility candidate 4							57.0	55.0	55.0					15																	44673018		2198	4298	6496	SO:0001583	missense	113201					integral to membrane		g.chr15:44673018C>T	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.916C>T	15.37:g.44673018C>T	ENSP00000335063:p.His306Tyr					CASC4_ENST00000345795.2_Missense_Mutation_p.H306Y|CASC4_ENST00000360824.3_3'UTR	p.H306Y	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	8	1215	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	306					B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	c.916C>T	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714398	0.48622	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	.	.	.	4.77	3.85	0.44370	.	0.688231	0.14718	N	0.302496	T	0.44644	0.1303	L	0.36672	1.1	0.80722	D	1	D;B;P	0.53745	0.962;0.256;0.71	P;B;B	0.45681	0.49;0.187;0.251	T	0.42531	-0.9446	9	0.56958	D	0.05	.	7.9478	0.29998	0.0:0.8899:0.0:0.1101	.	306;306;306	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	Y	306;306;285	.	ENSP00000299957:H306Y	H	+	1	0	CASC4	42460310	1.000000	0.71417	0.975000	0.42487	0.774000	0.43823	1.810000	0.38932	2.190000	0.69967	0.484000	0.47621	CAC		0.343	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		20	24	0	0	0	1	0	20	24				
PRICKLE2	166336	broad.mit.edu	37	3	64184482	64184482	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr3:64184482G>A	ENST00000295902.6	-	2	707	c.122C>T	c.(121-123)cCg>cTg	p.P41L	PRICKLE2-AS3_ENST00000473434.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P97L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	41	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CAGACCCGGCGGGACCCAGGC	0.512																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(121-123)cCg>cTg		prickle homolog 2 (Drosophila)							130.0	100.0	110.0					3																	64184482		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64184482G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.122C>T	3.37:g.64184482G>A	ENSP00000295902:p.Pro41Leu					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P97L|PRICKLE2-AS3_ENST00000473434.1_RNA	p.P41L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	2	707	-		Lung NSC(201;0.136)	41			PET.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.122C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	34	5.299956	0.95574	.	.	ENSG00000163637	ENST00000295902;ENST00000498162	D;D	0.96232	-3.95;-3.95	5.69	5.69	0.88448	PET domain (2);	0.000000	0.64402	D	0.000002	D	0.98469	0.9490	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99146	1.0857	10	0.87932	D	0	-33.7783	19.8075	0.96536	0.0:0.0:1.0:0.0	.	41	Q7Z3G6	PRIC2_HUMAN	L	41	ENSP00000295902:P41L;ENSP00000419951:P41L	ENSP00000295902:P41L	P	-	2	0	PRICKLE2	64159522	1.000000	0.71417	0.973000	0.42090	0.763000	0.43281	9.805000	0.99149	2.670000	0.90874	0.650000	0.86243	CCG		0.512	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		18	39	0	0	0	1	0	18	39				
IGLL1	3543	broad.mit.edu	37	22	23915576	23915576	+	Silent	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr22:23915576G>A	ENST00000330377.2	-	3	636	c.519C>T	c.(517-519)taC>taT	p.Y173Y	AP000345.2_ENST00000454863.1_RNA|AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	173	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TGCTGGCCGCGTACTTGTTGT	0.607																																						ENST00000330377.2																			0				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						c.(517-519)taC>taT		immunoglobulin lambda-like polypeptide 1							115.0	102.0	106.0					22																	23915576		2203	4300	6503	SO:0001819	synonymous_variant	3543				immune response	extracellular region|membrane		g.chr22:23915576G>A	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.519C>T	22.37:g.23915576G>A						AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	p.Y173Y	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN			3	636	-			173			C region (By similarity to lambda light- chain).|Ig-like C1-type.		Q0P681	Silent	SNP	ENST00000330377.2	37	c.519C>T	CCDS13809.1																																																																																				0.607	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		26	56	0	0	0	1	0	26	56				
CEP250	11190	broad.mit.edu	37	20	34099388	34099388	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr20:34099388G>A	ENST00000397527.1	+	35	7982	c.7262G>A	c.(7261-7263)aGt>aAt	p.S2421N	CEP250_ENST00000342580.4_Missense_Mutation_p.S2365N	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2421					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTGACTCAAAGTCTGACATCC	0.632																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(7261-7263)aGt>aAt		centrosomal protein 250kDa							50.0	50.0	50.0					20																	34099388		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34099388G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.7262G>A	20.37:g.34099388G>A	ENSP00000380661:p.Ser2421Asn					CEP250_ENST00000342580.4_Missense_Mutation_p.S2365N	p.S2421N	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		35	7982	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2421					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.7262G>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690610	0.68271	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.61274	2.33;2.29;0.12	4.75	3.77	0.43336	.	0.101189	0.43919	D	0.000512	T	0.71921	0.3397	M	0.75447	2.3	0.27215	N	0.959806	D	0.71674	0.998	D	0.80764	0.994	T	0.63435	-0.6638	10	0.72032	D	0.01	.	10.0132	0.41999	0.08:0.1386:0.7814:0.0	.	2421	Q9BV73	CP250_HUMAN	N	2421;2365;856	ENSP00000380661:S2421N;ENSP00000341541:S2365N;ENSP00000395992:S856N	ENSP00000341541:S2365N	S	+	2	0	CEP250	33562802	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.935000	0.40173	2.478000	0.83669	0.561000	0.74099	AGT		0.632	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		13	17	0	0	0	1	0	13	17				
SETBP1	26040	broad.mit.edu	37	18	42531452	42531452	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr18:42531452G>A	ENST00000282030.5	+	4	2443	c.2147G>A	c.(2146-2148)aGc>aAc	p.S716N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	716						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ATTAATGTCAGCAAGAGGGGA	0.567									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(2146-2148)aGc>aAc		SET binding protein 1							41.0	43.0	43.0					18																	42531452		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42531452G>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2147G>A	18.37:g.42531452G>A	ENSP00000282030:p.Ser716Asn						p.S716N	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	2443	+			716					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.2147G>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374903	0.61735	.	.	ENSG00000152217	ENST00000282030	D	0.91295	-2.82	6.17	5.3	0.74995	.	0.093992	0.64402	D	0.000001	D	0.91925	0.7443	L	0.59436	1.845	0.40656	D	0.982084	D	0.55800	0.973	P	0.51657	0.676	D	0.93014	0.6434	10	0.87932	D	0	.	15.4602	0.75349	0.066:0.0:0.934:0.0	.	716	Q9Y6X0	SETBP_HUMAN	N	716	ENSP00000282030:S716N	ENSP00000282030:S716N	S	+	2	0	SETBP1	40785450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	1.616000	0.50265	0.655000	0.94253	AGC		0.567	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		3	29	0	0	0	1	0	3	29				
LILRA2	11027	broad.mit.edu	37	19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T	rs532565720	byFrequency	TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	289	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647													c|||	6	0.00119808	0.0	0.0014	5008	,	,		16291	0.0		0.0	False		,,,				2504	0.0051					ENST00000251377.3																			1	Substitution - Missense(1)	p.H289Y(1)	kidney(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(865-867)Cac>Tac		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							49.0	51.0	50.0					19																	55086932		2203	4299	6502	SO:0001583	missense	11027							g.chr19:55086932C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.865C>T	19.37:g.55086932C>T	ENSP00000251377:p.His289Tyr					LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y	p.H289Y						GBM - Glioblastoma multiforme(193;0.0963)	6	998	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.865C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	8.190	0.795735	0.16327	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00824	5.65;5.65;5.65;5.65;5.65	2.8	2.8	0.32819	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.843870	0.10052	N	0.722156	T	0.02767	0.0083	M	0.81179	2.53	0.25235	N	0.989797	B;B;B;B	0.17038	0.018;0.02;0.009;0.001	B;B;B;B	0.38458	0.274;0.077;0.077;0.015	T	0.36648	-0.9739	10	0.28530	T	0.3	.	9.2391	0.37484	0.0:1.0:0.0:0.0	.	289;277;289;289	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	289;289;289;289;277	ENSP00000388131:H289Y;ENSP00000251377:H289Y;ENSP00000375618:H289Y;ENSP00000251376:H289Y;ENSP00000375617:H277Y	ENSP00000251376:H289Y	H	+	1	0	LILRA2	59778744	0.000000	0.05858	0.006000	0.13384	0.119000	0.20118	0.417000	0.21214	1.570000	0.49709	0.400000	0.26472	CAC		0.647	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			3	60	0	0	0	1	0	3	60				
ASRGL1	80150	broad.mit.edu	37	11	62124546	62124546	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr11:62124546A>G	ENST00000415229.2	+	4	636	c.421A>G	c.(421-423)Aca>Gca	p.T141A	ASRGL1_ENST00000535727.1_Missense_Mutation_p.T13A|ASRGL1_ENST00000528206.1_3'UTR|ASRGL1_ENST00000301776.5_Missense_Mutation_p.T141A	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	141					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	AAAACTGGTGACAGAGAGAAA	0.463																																						ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(421-423)Aca>Gca		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						62.0	71.0	68.0					11																	62124546		2202	4299	6501	SO:0001583	missense	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62124546A>G		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.421A>G	11.37:g.62124546A>G	ENSP00000400057:p.Thr141Ala					ASRGL1_ENST00000535727.1_Missense_Mutation_p.T13A|ASRGL1_ENST00000528206.1_3'UTR|ASRGL1_ENST00000301776.5_Missense_Mutation_p.T141A	p.T141A	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN			4	636	+			141					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	ENST00000415229.2	37	c.421A>G	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	a	17.94	3.512034	0.64522	.	.	ENSG00000162174	ENST00000415229;ENST00000535727;ENST00000301776	D;D;D	0.89270	-2.49;-2.49;-2.49	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.94384	0.8194	M	0.91920	3.255	0.58432	D	0.999991	P	0.45474	0.859	P	0.54706	0.759	D	0.95271	0.8377	10	0.87932	D	0	-25.4919	14.1149	0.65146	1.0:0.0:0.0:0.0	.	141	Q7L266	ASGL1_HUMAN	A	141;13;141	ENSP00000400057:T141A;ENSP00000443284:T13A;ENSP00000301776:T141A	ENSP00000301776:T141A	T	+	1	0	ASRGL1	61881122	1.000000	0.71417	0.346000	0.25655	0.228000	0.25075	4.826000	0.62715	2.221000	0.72209	0.451000	0.29950	ACA		0.463	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		20	26	0	0	0	1	0	20	26				
EHMT1	79813	broad.mit.edu	37	9	140693307	140693307	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr9:140693307G>C	ENST00000460843.1	+	17	2575	c.2548G>C	c.(2548-2550)Ggc>Cgc	p.G850R		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	850					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGCCAAGAAAGGCCACTACGA	0.532																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2548-2550)Ggc>Cgc		euchromatic histone-lysine N-methyltransferase 1							198.0	165.0	176.0					9																	140693307		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140693307G>C	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2548G>C	9.37:g.140693307G>C	ENSP00000417980:p.Gly850Arg						p.G850R	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	17	2575	+	all_cancers(76;0.164)		850					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.2548G>C	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	30	5.056876	0.93846	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	T	0.73258	-0.73	5.61	5.61	0.85477	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85948	0.1462	10	0.87932	D	0	.	19.6207	0.95654	0.0:0.0:1.0:0.0	.	850	Q9H9B1	EHMT1_HUMAN	R	819;850	ENSP00000417980:G850R	ENSP00000360453:G819R	G	+	1	0	EHMT1	139813128	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.170000	0.94795	2.646000	0.89796	0.561000	0.74099	GGC		0.532	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		18	41	0	0	0	1	0	18	41				
ATP9A	10079	broad.mit.edu	37	20	50329586	50329586	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr20:50329586G>A	ENST00000338821.5	-	4	619	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	ATP9A_ENST00000402822.1_Missense_Mutation_p.R119C|ATP9A_ENST00000311637.5_Missense_Mutation_p.R104C	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	119					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACCGCCTCACGGATGACAGTG	0.622																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(355-357)Cgt>Tgt		ATPase, class II, type 9A							88.0	60.0	69.0					20																	50329586		2203	4299	6502	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50329586G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.355C>T	20.37:g.50329586G>A	ENSP00000342481:p.Arg119Cys					ATP9A_ENST00000402822.1_Missense_Mutation_p.R119C|ATP9A_ENST00000311637.5_Missense_Mutation_p.R104C	p.R119C	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			4	619	-			119					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.355C>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358727	0.82243	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.77620	-1.11;-1.11;-1.11	4.8	4.8	0.61643	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.118282	0.56097	D	0.000022	D	0.89588	0.6758	M	0.86502	2.82	0.42362	D	0.992419	D;D	0.76494	0.991;0.999	P;D	0.76575	0.727;0.988	D	0.91827	0.5472	10	0.72032	D	0.01	-7.5447	17.8464	0.88731	0.0:0.0:1.0:0.0	.	119;119	O75110-2;O75110	.;ATP9A_HUMAN	C	104;119;119	ENSP00000309086:R104C;ENSP00000342481:R119C;ENSP00000385875:R119C	ENSP00000309086:R104C	R	-	1	0	ATP9A	49762993	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	3.500000	0.53318	2.216000	0.71823	0.557000	0.71058	CGT		0.622	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		3	22	0	0	0	1	0	3	22				
IL15RA	3601	broad.mit.edu	37	10	5995110	5995110	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr10:5995110C>A	ENST00000379977.3	-	7	849	c.752G>T	c.(751-753)tGg>tTg	p.W251L	IL15RA_ENST00000397250.2_Missense_Mutation_p.W153L|IL15RA_ENST00000397251.3_Missense_Mutation_p.W186L|IL15RA_ENST00000528354.1_Missense_Mutation_p.W218L|IL15RA_ENST00000525219.2_Missense_Mutation_p.W215L|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397248.2_Missense_Mutation_p.W215L			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	251					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GCTGGTCCCCCAAGTCACCGG	0.557																																						ENST00000525219.2																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(643-645)tGg>tTg		interleukin 15 receptor, alpha							81.0	81.0	81.0					10																	5995110		2203	4300	6503	SO:0001583	missense	3601				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity	g.chr10:5995110C>A	U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"""Interleukins and interleukin receptors"", ""CD molecules"""	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.752G>T	10.37:g.5995110C>A	ENSP00000369312:p.Trp251Leu					IL15RA_ENST00000379977.3_Missense_Mutation_p.W251L|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397251.3_Missense_Mutation_p.W186L|IL15RA_ENST00000528354.1_Missense_Mutation_p.W218L|IL15RA_ENST00000397250.2_Missense_Mutation_p.W153L|IL15RA_ENST00000397248.2_Missense_Mutation_p.W215L	p.W215L	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN			7	938	-			251					B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Missense_Mutation	SNP	ENST00000379977.3	37	c.644G>T	CCDS7074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.414|6.414	0.444477|0.444477	0.12164|0.12164	.|.	.|.	ENSG00000134470|ENSG00000134470	ENST00000532039|ENST00000397251;ENST00000379977;ENST00000397248;ENST00000319465;ENST00000528354;ENST00000397250	.|T;T;T;T;T	.|0.40225	.|1.04;1.05;1.06;2.04;1.04	3.4|3.4	1.4|1.4	0.22301|0.22301	.|.	.|0.556218	.|0.14484	.|N	.|0.316770	T|T	0.18882|0.18882	0.0453|0.0453	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.19095|0.19095	-1.0316|-1.0316	5|10	.|0.23891	.|T	.|0.37	-24.3979|-24.3979	5.6406|5.6406	0.17562|0.17562	0.2388:0.5506:0.2106:0.0|0.2388:0.5506:0.2106:0.0	.|.	.|218;251	.|Q13261-3;Q13261	.|.;I15RA_HUMAN	W|L	193|186;251;215;215;218;153	.|ENSP00000380423:W186L;ENSP00000369312:W251L;ENSP00000380421:W215L;ENSP00000435454:W218L;ENSP00000380422:W153L	.|ENSP00000322245:W215L	G|W	-|-	1|2	0|0	IL15RA|IL15RA	6035116|6035116	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.285000|-0.285000	0.08410|0.08410	0.373000|0.373000	0.24621|0.24621	0.313000|0.313000	0.20887|0.20887	GGG|TGG		0.557	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046615.2	NM_172200, NM_002189		6	64	1	0	0.00116845	1	0.00116845	6	64				
SPHKAP	80309	broad.mit.edu	37	2	228883997	228883997	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr2:228883997C>A	ENST00000392056.3	-	7	1619	c.1573G>T	c.(1573-1575)Gtc>Ttc	p.V525F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V525F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	525						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAGTTCGAGACCACTTGCTCC	0.507																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1573-1575)Gtc>Ttc		SPHK1 interactor, AKAP domain containing							62.0	55.0	57.0					2																	228883997		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883997C>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1573G>T	2.37:g.228883997C>A	ENSP00000375909:p.Val525Phe					SPHKAP_ENST00000344657.5_Missense_Mutation_p.V525F	p.V525F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1619	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	525					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1573G>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.324897	0.24080	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.47869	0.83;0.83	6.03	5.15	0.70609	.	0.665289	0.15267	N	0.271469	T	0.48077	0.1480	M	0.63428	1.95	0.09310	N	1	B;P	0.36282	0.437;0.546	B;B	0.35073	0.099;0.195	T	0.46386	-0.9195	10	0.54805	T	0.06	.	14.4043	0.67071	0.0:0.9298:0.0:0.0702	.	525;525	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	F	525	ENSP00000375909:V525F;ENSP00000339886:V525F	ENSP00000339886:V525F	V	-	1	0	SPHKAP	228592241	0.000000	0.05858	0.613000	0.29037	0.164000	0.22412	-0.318000	0.08050	1.558000	0.49541	0.655000	0.94253	GTC		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		3	51	1	0	0.00024832	1	0.00025608	3	51				
ATR	545	broad.mit.edu	37	3	142281438	142281438	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr3:142281438A>G	ENST00000350721.4	-	4	927	c.806T>C	c.(805-807)tTt>tCt	p.F269S	ATR_ENST00000383101.3_Missense_Mutation_p.F269S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	269					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGAGCTGAAAAAAGTGCTAGC	0.358								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(805-807)tTt>tCt	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							64.0	68.0	66.0					3																	142281438		2203	4299	6502	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281438A>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.806T>C	3.37:g.142281438A>G	ENSP00000343741:p.Phe269Ser					ATR_ENST00000383101.3_Missense_Mutation_p.F269S	p.F269S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			4	927	-			269					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.806T>C	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.880760	0.51801	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.67345	-0.26;-0.2	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74306	0.3699	L	0.32530	0.975	0.33893	D	0.637635	D	0.76494	0.999	D	0.80764	0.994	T	0.82508	-0.0422	10	0.87932	D	0	-21.7403	15.7097	0.77615	1.0:0.0:0.0:0.0	.	269	Q13535	ATR_HUMAN	S	269	ENSP00000343741:F269S;ENSP00000372581:F269S	ENSP00000343741:F269S	F	-	2	0	ATR	143764128	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.865000	0.75500	2.113000	0.64589	0.482000	0.46254	TTT		0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		23	44	0	0	0	1	0	23	44				
TOX3	27324	broad.mit.edu	37	16	52473705	52473705	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr16:52473705A>T	ENST00000219746.9	-	7	1447	c.1163T>A	c.(1162-1164)tTa>tAa	p.L388*	TOX3_ENST00000407228.3_Nonsense_Mutation_p.L383*	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	388					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TCTCATGGTTAAGGGTTTGGG	0.517																																						ENST00000219746.9																			0				NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(1162-1164)tTa>tAa		TOX high mobility group box family member 3							305.0	301.0	302.0					16																	52473705		2118	4248	6366	SO:0001587	stop_gained	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52473705A>T	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1163T>A	16.37:g.52473705A>T	ENSP00000219746:p.Leu388*					TOX3_ENST00000407228.3_Nonsense_Mutation_p.L383*	p.L388*	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			7	1447	-			388					B4DRD0|B5MCW4	Nonsense_Mutation	SNP	ENST00000219746.9	37	c.1163T>A	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	A	37	6.366011	0.97507	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	.	.	.	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.056	0.80805	1.0:0.0:0.0:0.0	.	.	.	.	X	388;383	.	ENSP00000219746:L388X	L	-	2	0	TOX3	51031206	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.178000	0.69098	0.533000	0.62120	TTA		0.517	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		9	165	0	0	0	1	0	9	165				
LLGL1	3996	broad.mit.edu	37	17	18138460	18138460	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr17:18138460A>G	ENST00000316843.4	+	10	1214	c.1118A>G	c.(1117-1119)gAc>gGc	p.D373G		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	373					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GTGGTGCTGGACCTGCAGACT	0.652																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1117-1119)gAc>gGc		lethal giant larvae homolog 1 (Drosophila)							45.0	44.0	44.0					17																	18138460		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18138460A>G		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1118A>G	17.37:g.18138460A>G	ENSP00000321537:p.Asp373Gly						p.D373G	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			10	1214	+	all_neural(463;0.228)		373					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.1118A>G	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.979217	0.92982	.	.	ENSG00000131899	ENST00000316843	T	0.17054	2.3	5.92	5.92	0.95590	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64067	-0.6494	10	0.72032	D	0.01	-45.1886	15.3822	0.74669	1.0:0.0:0.0:0.0	.	373	Q15334	L2GL1_HUMAN	G	373	ENSP00000321537:D373G	ENSP00000321537:D373G	D	+	2	0	LLGL1	18079185	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.238000	0.95380	2.275000	0.75901	0.529000	0.55759	GAC		0.652	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			4	18	0	0	0	1	0	4	18				
ZNF507	22847	broad.mit.edu	37	19	32843786	32843786	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr19:32843786A>G	ENST00000311921.4	+	2	242	c.50A>G	c.(49-51)cAg>cGg	p.Q17R	ZNF507_ENST00000544431.1_Missense_Mutation_p.Q17R|ZNF507_ENST00000355898.5_Missense_Mutation_p.Q17R	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	17					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ATTGGGGAACAGGAAGCTATA	0.358																																						ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(49-51)cAg>cGg		zinc finger protein 507							93.0	92.0	92.0					19																	32843786		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32843786A>G	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.50A>G	19.37:g.32843786A>G	ENSP00000312277:p.Gln17Arg					ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000544431.1_Missense_Mutation_p.Q17R|ZNF507_ENST00000355898.5_Missense_Mutation_p.Q17R	p.Q17R	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	242	+	Esophageal squamous(110;0.162)		17					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.50A>G	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100557	0.37048	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.08370	3.41;3.41;3.1	5.5	4.48	0.54585	.	0.405610	0.28156	N	0.016394	T	0.11836	0.0288	L	0.55481	1.735	0.30303	N	0.789277	P;P	0.45827	0.671;0.867	B;B	0.44044	0.188;0.439	T	0.02654	-1.1128	10	0.51188	T	0.08	-9.0046	11.2739	0.49155	0.71:0.29:0.0:0.0	.	17;17	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	R	17	ENSP00000348162:Q17R;ENSP00000312277:Q17R;ENSP00000441549:Q17R	ENSP00000312277:Q17R	Q	+	2	0	ZNF507	37535626	1.000000	0.71417	0.982000	0.44146	0.949000	0.60115	4.473000	0.60196	0.985000	0.38656	0.402000	0.26972	CAG		0.358	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		23	49	0	0	0	1	0	23	49				
MALT1	10892	broad.mit.edu	37	18	56411728	56411728	+	Splice_Site	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr18:56411728G>A	ENST00000348428.3	+	15	2169		c.e15+1		RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Splice_Site	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1						activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TTTTCCACTTGTGAGTCTCTT	0.289			T	BIRC3	MALT																																	ENST00000348428.3				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.e15+1		mucosa associated lymphoid tissue lymphoma translocation gene 1							110.0	108.0	109.0					18																	56411728		2203	4300	6503	SO:0001630	splice_region_variant	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56411728G>A		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1911+1G>A	18.37:g.56411728G>A						MALT1_ENST00000345724.3_Splice_Site|RP11-126O1.4_ENST00000588835.1_RNA		NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN			15	2169	+								Q9NTB7|Q9ULX4	Splice_Site	SNP	ENST00000348428.3	37		CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351283	0.61183	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2112	0.89871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MALT1	54562708	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	5.295000	0.65692	2.456000	0.83038	0.591000	0.81541	.		0.289	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2		Intron	17	42	0	0	0	1	0	17	42				
KDSR	2531	broad.mit.edu	37	18	61018282	61018282	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr18:61018282C>T	ENST00000406396.3	-	6	839	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	150					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CTGGGGTACACGCTGCCCAGG	0.547																																						ENST00000406396.3																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						c.(448-450)Gtg>Atg		3-ketodihydrosphingosine reductase							72.0	71.0	71.0					18																	61018282		2203	4300	6503	SO:0001583	missense	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61018282C>T		CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	4021	protein-coding gene	gene with protein product	"""3-dehydrosphinganine reductase"", ""short chain dehydrogenase/reductase family 35C, member 1"""	136440	"""follicular lymphoma variant translocation 1"""	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.448G>A	18.37:g.61018282C>T	ENSP00000385083:p.Val150Met					KDSR_ENST00000326575.5_Intron	p.V150M	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN			6	839	-			150					B2R5Y1|B4DMX0	Missense_Mutation	SNP	ENST00000406396.3	37	c.448G>A	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362932	0.95877	.	.	ENSG00000119537	ENST00000406396	D	0.90069	-2.61	5.95	5.95	0.96441	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93337	0.7876	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91362	0.5112	10	0.35671	T	0.21	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	150	Q06136	KDSR_HUMAN	M	150	ENSP00000385083:V150M	ENSP00000385083:V150M	V	-	1	0	KDSR	59169262	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GTG		0.547	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2			4	74	0	0	0	1	0	4	74				
RP11-340I6.7	0	broad.mit.edu	37	7	63351433	63351433	+	lincRNA	DEL	G	G	-			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr7:63351433delG	ENST00000587736.1	-	0	688																											TGCCCCCTCTGGGCAGGTTCC	0.612																																						ENST00000587736.1																			0																																																			0							g.chr7:63351433delG																													7.37:g.63351433delG														0	688	-									RNA	DEL	ENST00000587736.1	37																																																																																						0.612	RP11-340I6.7-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000447757.1			2	4						2	4	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29676174	29676177	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr17:29676174_29676177delCAGT	ENST00000358273.4	+	49	7609_7612	c.7226_7229delCAGT	c.(7225-7230)acagtcfs	p.TV2409fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.TV2388fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.TV122fs|NF1_ENST00000444181.2_Frame_Shift_Del_p.TV202fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2409					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTGCAAGAACAGTCAGAATTTTA	0.353			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(8)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(7225-7230)acfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29676174_29676177delCAGT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7226_7229delCAGT	17.37:g.29676174_29676177delCAGT	ENSP00000351015:p.Thr2409fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000444181.2_Frame_Shift_Del_p.TV202fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.TV122fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.TV2388fs	p.TV2409fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	49	7609_7612	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2409					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.7226_7229delCAGT	CCDS42292.1																																																																																				0.353	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		7	2						7	2	---	---	---	---
