#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
SIDT2	51092	broad.mit.edu	37	11	117058406	117058406	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr11:117058406G>A	ENST00000324225.4	+	12	1681	c.1150G>A	c.(1150-1152)Ggt>Agt	p.G384S	SIDT2_ENST00000431081.2_Missense_Mutation_p.G388S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	384					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCTCTCTTACGGTTACCAGGG	0.592																																						uc001pqg.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1150-1152)Ggt>Agt		Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA.							98.0	84.0	89.0					11																	117058406		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117058406G>A	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1150G>A	11.37:g.117058406G>A	ENSP00000314023:p.Gly384Ser		Somatic				SIDT2_uc010rxe.1_Missense_Mutation_p.G384S|SIDT2_uc001pqh.1_Missense_Mutation_p.G384S|SIDT2_uc001pqi.1_Missense_Mutation_p.G388S	p.G384S	NM_001040455	NP_001035545	WXS	Illumina GAIIx	Phase_I	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	11	1191	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	384					Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.1150G>A	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	5.099	0.203917	0.09704	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.20598	2.3;2.23;2.06	4.54	-2.79	0.05841	.	0.631387	0.16746	N	0.201237	T	0.10809	0.0264	L	0.28274	0.84	0.27269	N	0.958429	B;B;B;B	0.13594	0.002;0.007;0.008;0.005	B;B;B;B	0.10450	0.002;0.004;0.005;0.001	T	0.41360	-0.9513	10	0.07030	T	0.85	0.3993	11.4117	0.49929	0.5543:0.0:0.4457:0.0	.	384;388;384;384	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	S	384;384;388	ENSP00000314023:G384S;ENSP00000278951:G384S;ENSP00000399635:G388S	ENSP00000278951:G384S	G	+	1	0	SIDT2	116563616	0.000000	0.05858	0.172000	0.22920	0.690000	0.40134	-0.423000	0.07034	-0.772000	0.04602	0.462000	0.41574	GGT		0.592	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		16	81	0	0	0	1	0	16	81				
OR2M5	127059	broad.mit.edu	37	1	248309215	248309215	+	Missense_Mutation	SNP	T	T	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:248309215T>A	ENST00000366476.1	+	1	766	c.766T>A	c.(766-768)Ttg>Atg	p.L256M		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGGAGCAGGTTTGTTCATGTA	0.507																																						uc010pze.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(766-768)Ttg>Atg		Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.							217.0	198.0	204.0					1																	248309215		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309215T>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.766T>A	1.37:g.248309215T>A	ENSP00000355432:p.Leu256Met		Somatic					p.L256M	NM_001004690	NP_001004690	WXS	Illumina GAIIx	Phase_I	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		0	766	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		256						Missense_Mutation	SNP	ENST00000366476.1	37	c.766T>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	t	0.007	-2.011014	0.00422	.	.	ENSG00000162727	ENST00000366476	T	0.45276	0.9	3.13	-6.26	0.02033	GPCR, rhodopsin-like superfamily (1);	0.686149	0.10987	U	0.612049	T	0.13157	0.0319	N	0.04820	-0.15	0.09310	N	1	B	0.16802	0.019	B	0.23018	0.043	T	0.21314	-1.0249	10	0.07990	T	0.79	.	1.7427	0.02955	0.2365:0.1862:0.0863:0.491	.	256	A3KFT3	OR2M5_HUMAN	M	256	ENSP00000355432:L256M	ENSP00000355432:L256M	L	+	1	2	OR2M5	246375838	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-6.032000	0.00084	-2.617000	0.00442	-0.600000	0.04104	TTG		0.507	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		82	202	0	0	0	1	0	82	202				
PHLPP2	23035	broad.mit.edu	37	16	71683236	71683236	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr16:71683236T>C	ENST00000568954.1	-	19	3907	c.3529A>G	c.(3529-3531)Agg>Ggg	p.R1177G	PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R1177G|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R1212G|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000393524.2_Missense_Mutation_p.R1110G			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1177					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TCCAGATCCCTCCCCCTGCAG	0.542																																						uc002fax.3																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3529-3531)Agg>Ggg		Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.							74.0	70.0	71.0					16																	71683236		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71683236T>C	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3529A>G	16.37:g.71683236T>C	ENSP00000457991:p.Arg1177Gly		Somatic				PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Missense_Mutation_p.R1110G|PHLPP2_uc021tkv.1_5'Flank	p.R1177G	NM_015020	NP_055835	WXS	Illumina GAIIx	Phase_I	Q6ZVD8	PHLP2_HUMAN			17	3535	-			1177					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.3529A>G	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	T	3.552	-0.091485	0.07053	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.46819	1.39;0.86	6.03	1.01	0.19927	.	0.269566	0.40222	N	0.001158	T	0.36358	0.0964	L	0.44542	1.39	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.31668	-0.9935	10	0.72032	D	0.01	-4.2487	8.8001	0.34903	0.0:0.0637:0.3629:0.5733	.	1110;1177	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	G	1177;1110	ENSP00000348611:R1177G;ENSP00000377159:R1110G	ENSP00000348611:R1177G	R	-	1	2	PHLPP2	70240737	0.010000	0.17322	0.012000	0.15200	0.090000	0.18270	0.258000	0.18387	-0.105000	0.12132	-0.291000	0.09656	AGG		0.542	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		3	108	0	0	0	1	0	3	108				
SEPSECS	51091	broad.mit.edu	37	4	25125832	25125832	+	Silent	SNP	C	C	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr4:25125832C>A	ENST00000382103.2	-	11	1299	c.1227G>T	c.(1225-1227)ggG>ggT	p.G409G	SEPSECS_ENST00000515272.1_5'Flank|SEPSECS_ENST00000302922.3_Silent_p.G330G	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	409					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				TTTGCATGGACCCAAGAGGCA	0.388																																						uc003grg.3																			0				endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8						c.(1225-1227)ggG>ggT		Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	Pyridoxal Phosphate(DB00114)						80.0	75.0	77.0					4																	25125832		2203	4300	6503	SO:0001819	synonymous_variant	51091				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|tRNA binding|transferase activity, transferring selenium-containing groups	g.chr4:25125832C>A	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.1227G>T	4.37:g.25125832C>A			Somatic				SEPSECS_uc003gri.3_Silent_p.G408G|SEPSECS_uc003grh.3_Silent_p.G330G	p.G409G	NM_016955	NP_058651	WXS	Illumina GAIIx	Phase_I	Q9HD40	SPCS_HUMAN			10	1440	-		Breast(46;0.173)	409					A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Silent	SNP	ENST00000382103.2	37	c.1227G>T	CCDS3432.2																																																																																				0.388	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955		7	46	0	0	0	1	0	7	46				
RAB5C	5878	broad.mit.edu	37	17	40282394	40282394	+	Missense_Mutation	SNP	T	T	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:40282394T>G	ENST00000346213.4	-	2	339	c.127A>C	c.(127-129)Aag>Cag	p.K43Q	RAB5C_ENST00000547517.1_Missense_Mutation_p.K76Q|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.K43Q|RAB5C_ENST00000393860.3_Missense_Mutation_p.K43Q	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	43					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AACTGTCCCTTGACAAAGCGG	0.547																																						uc010cxx.3																			0				large_intestine(1)|lung(4)|prostate(1)|skin(1)	7						c.(226-228)Aag>Cag		Homo sapiens RAB5C, member RAS oncogene family (RAB5C), transcript variant 3, mRNA.							98.0	83.0	88.0					17																	40282394		2203	4300	6503	SO:0001583	missense	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40282394T>G	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"""RAB, member RAS oncogene"""	9785	protein-coding gene	gene with protein product	"""RAB, member of RAS oncogene family-like"", ""RAB5C, member of RAS oncogene family"""	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.127A>C	17.37:g.40282394T>G	ENSP00000345689:p.Lys43Gln		Somatic				RAB5C_uc002hyz.3_Missense_Mutation_p.K43Q|RAB5C_uc002hza.3_Missense_Mutation_p.K43Q	p.K76Q	NM_001252039	NP_001238968	WXS	Illumina GAIIx	Phase_I	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	2	583	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	43					F8W1H5|Q6FH55|Q9P0Y5	Missense_Mutation	SNP	ENST00000346213.4	37	c.226A>C	CCDS11419.1	.	.	.	.	.	.	.	.	.	.	T	19.44	3.827569	0.71143	.	.	ENSG00000108774	ENST00000346213;ENST00000393860;ENST00000547517;ENST00000552162;ENST00000550504;ENST00000550406	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.86	4.86	0.63082	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74061	0.3667	N	0.03983	-0.305	0.80722	D	1	P;D	0.59357	0.941;0.985	P;D	0.69824	0.807;0.966	T	0.81398	-0.0951	10	0.62326	D	0.03	-24.8243	14.6261	0.68621	0.0:0.0:0.0:1.0	.	76;43	F8W1H5;P51148	.;RAB5C_HUMAN	Q	43;43;76;43;43;43	ENSP00000345689:K43Q;ENSP00000377440:K43Q;ENSP00000447053:K76Q;ENSP00000449612:K43Q;ENSP00000449777:K43Q;ENSP00000448314:K43Q	ENSP00000345689:K43Q	K	-	1	0	RAB5C	37535920	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	7.868000	0.87116	2.039000	0.60335	0.383000	0.25322	AAG		0.547	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		23	94	0	0	0	1	0	23	94				
RYR2	6262	broad.mit.edu	37	1	237791321	237791321	+	Silent	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:237791321G>A	ENST00000366574.2	+	41	6698	c.6381G>A	c.(6379-6381)cgG>cgA	p.R2127R	RYR2_ENST00000542537.1_Silent_p.R2111R|RYR2_ENST00000360064.6_Silent_p.R2125R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2127	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCAGATTCGGTCCCTGCTGA	0.483																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6379-6381)cgG>cgA		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							107.0	115.0	113.0					1																	237791321		2001	4173	6174	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237791321G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6381G>A	1.37:g.237791321G>A			Somatic					p.R2127R	NM_001035	NP_001026	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		40	6501	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2127			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6381G>A	CCDS55691.1																																																																																				0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	70	0	0	0	1	0	3	70				
ZBTB9	221504	broad.mit.edu	37	6	33423522	33423522	+	Silent	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:33423522G>A	ENST00000395064.2	+	2	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552																																						uc003oeq.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(643-645)gaG>gaA		Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.							61.0	61.0	61.0					6																	33423522		2203	4300	6503	SO:0001819	synonymous_variant	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423522G>A	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.645G>A	6.37:g.33423522G>A			Somatic				ZBTB9_uc021ywp.1_Silent_p.E215E	p.E215E	NM_152735	NP_689948	WXS	Illumina GAIIx	Phase_I	Q96C00	ZBTB9_HUMAN			1	913	+			215					A2AB19	Silent	SNP	ENST00000395064.2	37	c.645G>A	CCDS4780.1																																																																																				0.552	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		3	97	0	0	0	1	0	3	97				
HMCN1	83872	broad.mit.edu	37	1	186114607	186114607	+	Missense_Mutation	SNP	G	G	A	rs111360184		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:186114607G>A	ENST00000271588.4	+	92	14568	c.14339G>A	c.(14338-14340)cGg>cAg	p.R4780Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4780Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4780	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGATGCGGCGGTACCGCACA	0.557																																						uc001grq.1																			0		p.R4780W(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14338-14340)cGg>cAg		Homo sapiens hemicentin 1 (HMCN1), mRNA.							97.0	87.0	91.0					1																	186114607		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114607G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14339G>A	1.37:g.186114607G>A	ENSP00000271588:p.Arg4780Gln		Somatic				MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R349Q	p.R4780Q	NM_031935	NP_114141	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			91	14568	+			4780			TSP type-1 5.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14339G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	34	5.404657	0.96051	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.80738	-1.41;-1.41	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92916	0.6351	10	0.87932	D	0	.	19.2606	0.93967	0.0:0.0:1.0:0.0	.	4780	Q96RW7	HMCN1_HUMAN	Q	4780	ENSP00000271588:R4780Q;ENSP00000356462:R4780Q	ENSP00000271588:R4780Q	R	+	2	0	HMCN1	184381230	1.000000	0.71417	0.994000	0.49952	0.752000	0.42762	9.338000	0.96553	2.551000	0.86045	0.655000	0.94253	CGG		0.557	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		25	50	0	0	0	1	0	25	50				
SIGLEC6	946	broad.mit.edu	37	19	52023341	52023341	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr19:52023341T>A	ENST00000425629.3	-	8	1511	c.1357A>T	c.(1357-1359)Aag>Tag	p.K453*	SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000343300.4_3'UTR|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000346477.3_Nonsense_Mutation_p.K437*|SIGLEC6_ENST00000436458.1_Nonsense_Mutation_p.K401*|SIGLEC6_ENST00000474054.1_5'UTR	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	453					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ATTCCTCACTTGTGTATCTTG	0.478																																						uc002pwy.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(1357-1359)Aag>Tag		Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.							122.0	119.0	120.0					19																	52023341		1968	4144	6112	SO:0001587	stop_gained	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52023341T>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1357A>T	19.37:g.52023341T>A	ENSP00000401502:p.Lys453*		Somatic				SIGLEC6_uc002pwz.3_Nonsense_Mutation_p.K437*|SIGLEC6_uc010ydb.2_Nonsense_Mutation_p.K401*|SIGLEC6_uc010ydc.2_3'UTR|SIGLEC6_uc002pxa.3_3'UTR|SIGLEC6_uc010eoz.2_3'UTR	p.K453*	NM_001245	NP_001236	WXS	Illumina GAIIx	Phase_I	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	7	1565	-		all_neural(266;0.0199)	453					A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Nonsense_Mutation	SNP	ENST00000425629.3	37	c.1357A>T	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	.	17.90	3.501032	0.64298	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000436458	.	.	.	2.45	1.39	0.22231	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4434	0.11586	0.0:0.1683:0.0:0.8317	.	.	.	.	X	426;437;453;401	.	ENSP00000344064:K426X	K	-	1	0	SIGLEC6	56715153	0.005000	0.15991	0.007000	0.13788	0.065000	0.16274	-0.560000	0.05964	0.337000	0.23665	0.496000	0.49642	AAG		0.478	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		8	114	0	0	0	1	0	8	114				
C1orf27	54953	broad.mit.edu	37	1	186359875	186359875	+	Silent	SNP	A	A	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:186359875A>G	ENST00000287859.6	+	7	632	c.507A>G	c.(505-507)caA>caG	p.Q169Q	C1orf27_ENST00000367470.3_Silent_p.Q169Q|C1orf27_ENST00000432021.3_Silent_p.Q169Q|C1orf27_ENST00000419367.3_Silent_p.Q137Q	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	169						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GGAAGTATCAAAGTGGATTAT	0.373																																						uc021pgj.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						c.(505-507)caA>caG		Homo sapiens chromosome 1 open reading frame 27 (C1orf27), transcript variant 1, mRNA.							138.0	125.0	129.0					1																	186359875		1873	4117	5990	SO:0001819	synonymous_variant	54953					integral to membrane	oxidoreductase activity|zinc ion binding	g.chr1:186359875A>G	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"""transactivated by recombinant transforming growth factor beta"""	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.507A>G	1.37:g.186359875A>G			Somatic				MIR548F1_uc021pgf.1_Intron|C1orf27_uc021pgg.1_Silent_p.Q169Q|C1orf27_uc021pgh.1_Silent_p.Q169Q|C1orf27_uc021pgi.1_Silent_p.Q137Q|C1orf27_uc021pgk.1_Silent_p.Q169Q|C1orf27_uc021pgl.1_Silent_p.Q137Q	p.Q169Q	NM_017847	NP_060317	WXS	Illumina GAIIx	Phase_I	Q5SWX8	ODR4_HUMAN			5	526	+			169					B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Silent	SNP	ENST00000287859.6	37	c.507A>G	CCDS53448.1																																																																																				0.373	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847		27	34	0	0	0	1	0	27	34				
AASDH	132949	broad.mit.edu	37	4	57215792	57215792	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr4:57215792C>G	ENST00000205214.6	-	11	2305	c.2125G>C	c.(2125-2127)Gac>Cac	p.D709H	AASDH_ENST00000602986.1_Missense_Mutation_p.D556H|AASDH_ENST00000451613.1_Missense_Mutation_p.D709H|AASDH_ENST00000434343.2_Missense_Mutation_p.D224H|AASDH_ENST00000513376.1_Missense_Mutation_p.D609H|AASDH_ENST00000502617.1_Missense_Mutation_p.D709H	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	709					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GAAACTGAGTCAGAAGGACAG	0.378																																						uc003hbn.3																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(2125-2127)Gac>Cac		Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.							62.0	64.0	63.0					4																	57215792		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding	g.chr4:57215792C>G	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2125G>C	4.37:g.57215792C>G	ENSP00000205214:p.Asp709His		Somatic				AASDH_uc010ihb.3_Missense_Mutation_p.D224H|AASDH_uc003hbo.3_Missense_Mutation_p.D609H|AASDH_uc011caa.2_Missense_Mutation_p.D556H|AASDH_uc011cab.2_Missense_Mutation_p.D224H|AASDH_uc010ihc.3_Missense_Mutation_p.D709H|AASDH_uc003hbp.3_Missense_Mutation_p.D709H	p.D709H	NM_181806	NP_861522	WXS	Illumina GAIIx	Phase_I	Q4L235	ACSF4_HUMAN			10	2278	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	709					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.2125G>C	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329566	0.24167	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.66280	-0.2;-0.06;2.15;0.34;0.36	5.52	4.66	0.58398	.	0.706131	0.15236	N	0.273175	T	0.71056	0.3295	M	0.66939	2.045	0.09310	N	1	D;D;D;D	0.65815	0.995;0.989;0.989;0.98	P;P;P;P	0.57468	0.821;0.799;0.799;0.707	T	0.61357	-0.7079	10	0.37606	T	0.19	-6.7075	10.6796	0.45807	0.0:0.908:0.0:0.092	.	556;709;709;709	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	H	709;609;224;709;556;709	ENSP00000205214:D709H;ENSP00000423760:D609H;ENSP00000392158:D224H;ENSP00000409656:D709H;ENSP00000421171:D709H	ENSP00000205214:D709H	D	-	1	0	AASDH	56910549	0.001000	0.12720	0.007000	0.13788	0.049000	0.14656	0.707000	0.25704	1.496000	0.48567	0.650000	0.86243	GAC		0.378	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		4	81	0	0	0	1	0	4	81				
PCDHB7	56129	broad.mit.edu	37	5	140553586	140553586	+	Silent	SNP	C	C	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr5:140553586C>T	ENST00000231137.3	+	1	1344	c.1170C>T	c.(1168-1170)ccC>ccT	p.P390P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	390	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGATGTCCCCTTCATCCTGA	0.473																																						uc003lit.3																			0		p.P390S(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1168-1170)ccC>ccT		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							74.0	75.0	75.0					5																	140553586		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553586C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1170C>T	5.37:g.140553586C>T			Somatic					p.P390P	NM_018940	NP_061763	WXS	Illumina GAIIx	Phase_I	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1344	+			390			Cadherin 4.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1170C>T	CCDS4249.1																																																																																				0.473	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		8	63	0	0	0	1	0	8	63				
SLCO3A1	28232	broad.mit.edu	37	15	92706034	92706034	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr15:92706034G>A	ENST00000318445.6	+	10	2016	c.1802G>A	c.(1801-1803)tGc>tAc	p.C601Y	SLCO3A1_ENST00000555549.1_3'UTR|RP11-152L20.3_ENST00000561674.1_RNA|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.C601Y	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	601					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GACTCCACCTGCCTGTTCTGG	0.572																																						uc002bqx.2																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1801-1803)tGc>tAc		Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.							72.0	58.0	63.0					15																	92706034		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92706034G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1802G>A	15.37:g.92706034G>A	ENSP00000320634:p.Cys601Tyr		Somatic				SLCO3A1_uc002bqy.2_Missense_Mutation_p.C601Y|SLCO3A1_uc002bqz.1_Missense_Mutation_p.C543Y	p.C601Y	NM_013272	NP_037404	WXS	Illumina GAIIx	Phase_I	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		9	2003	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		601					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1802G>A	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862017	0.71949	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.78481	-1.18;-1.18	5.65	4.73	0.59995	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91656	0.7363	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.94278	0.7517	10	0.87932	D	0	.	16.7137	0.85392	0.0:0.1293:0.8707:0.0	.	543;601;601	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	Y	601;601;320	ENSP00000320634:C601Y;ENSP00000387846:C601Y	ENSP00000320634:C601Y	C	+	2	0	SLCO3A1	90507038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.195000	0.94971	1.366000	0.46076	0.655000	0.94253	TGC		0.572	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		4	90	0	0	0	1	0	4	90				
FHL1	2273	broad.mit.edu	37	X	135288575	135288575	+	5'UTR	SNP	G	G	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chrX:135288575G>T	ENST00000345434.3	+	0	65				FHL1_ENST00000370676.3_Missense_Mutation_p.S11I|FHL1_ENST00000394153.2_5'UTR|FHL1_ENST00000394155.2_5'UTR|FHL1_ENST00000539015.1_Missense_Mutation_p.S24I|FHL1_ENST00000543669.1_5'UTR|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000370690.3_5'UTR|FHL1_ENST00000535737.1_5'UTR|FHL1_ENST00000370683.1_Missense_Mutation_p.S11I			Q13642	FHL1_HUMAN	four and a half LIM domains 1						cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GGTCCCTCCAGCTACAAGGTG	0.592																																						uc011mwa.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(70-72)aGc>aTc		Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 5, mRNA.							106.0	100.0	102.0					X																	135288575		2203	4300	6503	SO:0001623	5_prime_UTR_variant	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135288575G>T	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.-17G>T	X.37:g.135288575G>T			Somatic				FHL1_uc010nrz.2_5'UTR|FHL1_uc004ezq.2_5'UTR|FHL1_uc004ezo.3_5'UTR|FHL1_uc004ezm.2_Non-coding_Transcript|FHL1_uc004ezl.2_5'UTR|FHL1_uc011mvy.1_5'UTR|FHL1_uc004ezn.2_5'UTR|FHL1_uc022ceu.1_5'UTR|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Missense_Mutation_p.S11I|FHL1_uc004ezr.2_5'Flank	p.S24I	NM_001159701	NP_001153173	WXS	Illumina GAIIx	Phase_I	Q13642	FHL1_HUMAN			1	120	+	Acute lymphoblastic leukemia(192;0.000127)		0					B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	ENST00000345434.3	37	c.71G>T	CCDS55507.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564826	0.45694	.	.	ENSG00000022267	ENST00000456218;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704	T;T;T	0.62232	0.04;0.08;0.24	5.73	4.81	0.61882	.	.	.	.	.	T	0.49115	0.1538	L	0.45352	1.415	0.58432	D	0.999991	B;B	0.18310	0.027;0.007	B;B	0.17722	0.019;0.003	T	0.38156	-0.9674	9	0.13853	T	0.58	.	8.8522	0.35206	0.0799:0.1471:0.773:0.0	.	24;11	B7Z793;B7Z5T4	.;.	I	35;24;11;11;11	ENSP00000437673:S24I;ENSP00000359717:S11I;ENSP00000359710:S11I	ENSP00000359710:S11I	S	+	2	0	FHL1	135116241	1.000000	0.71417	0.777000	0.31699	0.939000	0.58152	3.558000	0.53749	2.396000	0.81511	0.600000	0.82982	AGC		0.592	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		14	251	0	0	0	1	0	14	251				
EXD2	55218	broad.mit.edu	37	14	69707775	69707775	+	Silent	SNP	G	G	C			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr14:69707775G>C	ENST00000409018.3	+	9	1952	c.1824G>C	c.(1822-1824)ctG>ctC	p.L608L	EXD2_ENST00000409675.1_Silent_p.L483L|EXD2_ENST00000449989.1_Silent_p.L483L|EXD2_ENST00000409242.1_Silent_p.L483L|EXD2_ENST00000312994.5_Silent_p.L608L|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409949.1_Silent_p.L483L|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409014.1_Silent_p.L483L	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	608							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						ATCAGAAGCTGCTCCGGAAAT	0.567																																						uc001xky.3																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(1822-1824)ctG>ctC		Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.							52.0	47.0	49.0					14																	69707775		2203	4300	6503	SO:0001819	synonymous_variant	55218				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69707775G>C	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1824G>C	14.37:g.69707775G>C			Somatic				EXD2_uc001xkt.3_Silent_p.L483L|EXD2_uc001xkv.3_Silent_p.L608L|EXD2_uc001xkw.3_Silent_p.L483L|EXD2_uc001xku.3_Silent_p.L353L|EXD2_uc001xkx.3_Silent_p.L483L|EXD2_uc010aqt.3_Silent_p.L608L|EXD2_uc010tte.2_Silent_p.L608L	p.L608L	NM_001193360	NP_060669	WXS	Illumina GAIIx	Phase_I	Q9NVH0	EXD2_HUMAN			9	2070	+			483					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Silent	SNP	ENST00000409018.3	37	c.1824G>C	CCDS53902.1																																																																																				0.567	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			3	61	0	0	0	1	0	3	61				
PCSK2	5126	broad.mit.edu	37	20	17445952	17445952	+	Intron	SNP	C	C	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr20:17445952C>G	ENST00000262545.2	+	11	1517				PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Intron|PCSK2_ENST00000377899.1_Intron	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2						cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCCTCTTGCTCTCTGCTTCCT	0.522																																						uc002wpn.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(145-147)tCt>tGt		Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 2, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						50.0	39.0	43.0					20																	17445952		2203	4300	6503	SO:0001627	intron_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17445952C>G	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1203-19C>G	20.37:g.17445952C>G			Somatic				PCSK2_uc002wpl.3_Intron|PCSK2_uc002wpm.3_Intron|PCSK2_uc010zrm.2_Intron	p.S49C	NM_001201529	NP_001188458	WXS	Illumina GAIIx	Phase_I	P16519	NEC2_HUMAN			0	1875	+			397					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.146C>G	CCDS13125.1																																																																																				0.522	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		6	21	0	0	0	1	0	6	21				
TRIM39	56658	broad.mit.edu	37	6	30297528	30297528	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:30297528A>G	ENST00000396547.1	+	2	594	c.434A>G	c.(433-435)gAt>gGt	p.D145G	TRIM39_ENST00000376659.5_Missense_Mutation_p.D145G|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.D57G|TRIM39_ENST00000396548.1_Missense_Mutation_p.D145G|HCG18_ENST00000426882.1_RNA|HCG18_ENST00000413358.2_RNA|HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000396551.3_Missense_Mutation_p.D145G|TRIM39_ENST00000376656.4_Missense_Mutation_p.D145G|TRIM39_ENST00000540416.1_Missense_Mutation_p.D145G			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	145					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CCACTGGACGATGCTACACAG	0.542																																						uc010jrz.3																			0											c.(433-435)gAt>gGt		Homo sapiens tripartite motif containing 39 (TRIM39), transcript variant 1, mRNA.							60.0	64.0	63.0					6																	30297528		1508	2707	4215	SO:0001583	missense	202658					intracellular	zinc ion binding	g.chr6:30297528A>G	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.434A>G	6.37:g.30297528A>G	ENSP00000379796:p.Asp145Gly		Somatic				HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39-RPP21_uc003npz.3_Missense_Mutation_p.D145G|TRIM39-RPP21_uc003nqb.3_Missense_Mutation_p.D145G|TRIM39-RPP21_uc003nqc.3_Missense_Mutation_p.D145G|TRIM39-RPP21_uc010jsa.2_Missense_Mutation_p.D145G	p.D145G	NM_021253	NP_067076	WXS	Illumina GAIIx	Phase_I	A6ZJ12	A6ZJ12_HUMAN			2	746	+			57					Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.434A>G	CCDS34377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.56|17.56	3.420802|3.420802	0.62622|0.62622	.|.	.|.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167|ENSG00000204599	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556|ENST00000420746	T;T;T;T;T;T;T;T|.	0.58358|.	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.094359|.	0.44285|.	D|.	0.000471|.	T|T	0.51244|0.51244	0.1663|0.1663	L|L	0.49126|0.49126	1.545|1.545	0.47037|0.47037	D|D	0.999293|0.999293	B;B;P|.	0.37061|.	0.288;0.128;0.58|.	B;B;B|.	0.42030|.	0.118;0.101;0.373|.	T|T	0.51364|0.51364	-0.8715|-0.8715	10|5	0.87932|.	D|.	0|.	.|.	13.3341|13.3341	0.60507|0.60507	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	59;145;145|.	F5H2V3;Q9HCM9;Q9HCM9-2|.	.;TRI39_HUMAN;.|.	G|V	145;145;145;145;145;59;145;145;145;145;57|75	ENSP00000379800:D145G;ENSP00000365844:D145G;ENSP00000439400:D145G;ENSP00000406019:D145G;ENSP00000379797:D145G;ENSP00000365847:D145G;ENSP00000379796:D145G;ENSP00000424048:D57G|.	ENSP00000365844:D145G|.	D|M	+|+	2|1	0|0	TRIM39-RPP21;TRIM39|TRIM39	30405507|30405507	1.000000|1.000000	0.71417|0.71417	0.574000|0.574000	0.28523|0.28523	0.941000|0.941000	0.58515|0.58515	6.364000|6.364000	0.73086|0.73086	2.253000|2.253000	0.74438|0.74438	0.454000|0.454000	0.30748|0.30748	GAT|ATG		0.542	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		7	67	0	0	0	1	0	7	67				
CSMD3	114788	broad.mit.edu	37	8	113267520	113267520	+	Silent	SNP	T	T	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr8:113267520T>A	ENST00000297405.5	-	62	10243	c.9999A>T	c.(9997-9999)gcA>gcT	p.A3333A	CSMD3_ENST00000352409.3_Silent_p.A3263A|CSMD3_ENST00000455883.2_Silent_p.A3164A|CSMD3_ENST00000343508.3_Silent_p.A3293A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3333	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTGCCATCTGCTTGACATA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9997-9999)gcA>gcT		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							133.0	120.0	124.0					8																	113267520		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113267520T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9999A>T	8.37:g.113267520T>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_uc003yns.3_Silent_p.A2535A|CSMD3_uc003ynt.3_Silent_p.A3293A|CSMD3_uc011lhx.2_Silent_p.A3164A	p.A3333A	NM_198123	NP_937756	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			61	10158	-			3333			Sushi 26.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9999A>T	CCDS6315.1																																																																																				0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		34	72	0	0	0	1	0	34	72				
TBC1D4	9882	broad.mit.edu	37	13	75930351	75930351	+	Silent	SNP	G	G	T	rs377252828		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr13:75930351G>T	ENST00000377636.3	-	4	1553	c.1207C>A	c.(1207-1209)Cgg>Agg	p.R403R	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Silent_p.R403R|TBC1D4_ENST00000377625.2_Silent_p.R403R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	403	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGAGACTCCCGGCAGATAAAG	0.413																																						uc001vjl.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1207-1209)Cgg>Agg		Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.							62.0	60.0	60.0					13																	75930351		1912	4137	6049	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75930351G>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1207C>A	13.37:g.75930351G>T			Somatic				TBC1D4_uc010aer.2_Silent_p.R403R|TBC1D4_uc010aes.2_Silent_p.R403R	p.R403R	NM_014832	NP_055647	WXS	Illumina GAIIx	Phase_I	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	3	1554	-		Prostate(6;0.014)|Breast(118;0.0982)	403			PID 2.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.1207C>A	CCDS41901.1																																																																																				0.413	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		5	45	0	0	0	1	0	5	45				
FMNL1	752	broad.mit.edu	37	17	43318854	43318854	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:43318854G>A	ENST00000331495.3	+	14	1774	c.1438G>A	c.(1438-1440)Gtg>Atg	p.V480M	CTD-2020K17.3_ENST00000393507.2_RNA|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.V58M|FMNL1_ENST00000328118.3_Missense_Mutation_p.V480M	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	480	Pro-rich.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GGAGCTGAAGGTGGAGGAGCT	0.682																																					GBM(164;1247 1997 8702 11086 51972)	uc002iin.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(1438-1440)Gtg>Atg		Homo sapiens formin-like 1 (FMNL1), mRNA.							13.0	8.0	10.0					17																	43318854		2093	4123	6216	SO:0001583	missense	752				actin cytoskeleton organization		Rho GTPase binding|actin binding	g.chr17:43318854G>A	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1438G>A	17.37:g.43318854G>A	ENSP00000329219:p.Val480Met		Somatic				FMNL1_uc002iiq.3_Missense_Mutation_p.V58M|FMNL1_uc010dag.3_5'Flank|FMNL1_uc021tyj.1_5'Flank	p.V480M	NM_005892	NP_005883	WXS	Illumina GAIIx	Phase_I	O95466	FMNL_HUMAN			13	1638	+			480			Pro-rich.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.1438G>A	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892971	0.52121	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.80033	-1.33;-1.33	4.45	0.94	0.19513	.	0.416849	0.23330	N	0.049356	T	0.62368	0.2422	L	0.34521	1.04	0.33355	D	0.571547	B	0.29716	0.255	B	0.28305	0.088	T	0.56288	-0.8004	10	0.23891	T	0.37	.	2.2943	0.04146	0.1113:0.3288:0.3669:0.193	.	480	O95466	FMNL_HUMAN	M	480;480;198	ENSP00000327442:V480M;ENSP00000329219:V480M	ENSP00000327442:V480M	V	+	1	0	FMNL1	40674637	0.826000	0.29277	1.000000	0.80357	0.887000	0.51463	0.000000	0.12993	0.822000	0.34565	0.407000	0.27541	GTG		0.682	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		3	4	0	0	0	1	0	3	4				
PRDM4	11108	broad.mit.edu	37	12	108128006	108128006	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:108128006G>T	ENST00000228437.5	-	12	2846	c.2387C>A	c.(2386-2388)tCt>tAt	p.S796Y	RP11-864J10.4_ENST00000546829.1_RNA|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	796					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGCAGAAAGAGACTCATCCGC	0.378																																						uc001tmp.3																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(2386-2388)tCt>tAt		Homo sapiens PR domain containing 4 (PRDM4), mRNA.							130.0	126.0	128.0					12																	108128006		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108128006G>T	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2387C>A	12.37:g.108128006G>T	ENSP00000228437:p.Ser796Tyr		Somatic				PRDM4_uc001tmq.3_Non-coding_Transcript	p.S796Y	NM_012406	NP_036538	WXS	Illumina GAIIx	Phase_I	Q9UKN5	PRDM4_HUMAN			11	2824	-			796					Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.2387C>A	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387628	0.42308	.	.	ENSG00000110851	ENST00000228437	T	0.11930	2.73	6.03	5.1	0.69264	.	0.456216	0.27147	N	0.020717	T	0.09949	0.0244	N	0.24115	0.695	0.19300	N	0.999977	B	0.32693	0.38	B	0.31751	0.135	T	0.22138	-1.0225	10	0.41790	T	0.15	-0.1345	11.5022	0.50444	0.076:0.1385:0.7855:0.0	.	796	Q9UKN5	PRDM4_HUMAN	Y	796	ENSP00000228437:S796Y	ENSP00000228437:S796Y	S	-	2	0	PRDM4	106652136	0.151000	0.22747	0.811000	0.32455	0.865000	0.49528	2.089000	0.41672	2.868000	0.98415	0.555000	0.69702	TCT		0.378	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		13	138	0	0	0	1	0	13	138				
SREBF1	6720	broad.mit.edu	37	17	17721595	17721595	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:17721595G>A	ENST00000261646.5	-	6	1346	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	SREBF1_ENST00000338854.5_Missense_Mutation_p.R388C|SREBF1_ENST00000435530.2_Missense_Mutation_p.R388C|SREBF1_ENST00000355815.4_Missense_Mutation_p.R418C|SREBF1_ENST00000395757.1_Missense_Mutation_p.R134C|SREBF1_ENST00000583732.1_5'Flank	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	388	Interaction with LMNA. {ECO:0000250}.|Leucine-zipper.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						ACAGCAGTGCGCAGACTTAGG	0.542																																						uc002grt.2																			0		p.L417L(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(1252-1254)Cgc>Tgc		Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 1, mRNA.							134.0	109.0	118.0					17																	17721595		2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17721595G>A	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1162C>T	17.37:g.17721595G>A	ENSP00000261646:p.Arg388Cys		Somatic				SREBF1_uc002grp.2_5'UTR|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Missense_Mutation_p.R134C|SREBF1_uc002grs.2_Missense_Mutation_p.R364C|SREBF1_uc002gru.2_Missense_Mutation_p.R388C|SREBF1_uc010cpp.1_Missense_Mutation_p.R364C|SREBF1_uc010cpq.1_Missense_Mutation_p.R388C	p.R418C	NM_001005291	NP_001005291	WXS	Illumina GAIIx	Phase_I	P36956	SRBP1_HUMAN			6	1446	-			388			Interaction with LMNA (By similarity).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.1252C>T	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.725971|4.725971	0.89298|0.89298	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530	.|T;T;T;T;T	.|0.79141	.|0.47;0.48;0.48;0.92;-1.24	5.13|5.13	4.1|4.1	0.47936|0.47936	.|Helix-loop-helix DNA-binding (2);	.|0.066648	.|0.64402	.|D	.|0.000005	D|D	0.82692|0.82692	0.5092|0.5092	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.72338	.|0.977;0.96;0.912;0.959	D|D	0.83619|0.83619	0.0138|0.0138	5|10	.|0.87932	.|D	.|0	-19.4068|-19.4068	10.314|10.314	0.43725|0.43725	0.0:0.0:0.5691:0.4309|0.0:0.0:0.5691:0.4309	.|.	.|388;364;388;418	.|B0I4X3;B0I4X4;P36956;P36956-4	.|.;.;SRBP1_HUMAN;.	V|C	395|388;418;388;134;225;314;388	.|ENSP00000345822:R388C;ENSP00000348069:R418C;ENSP00000261646:R388C;ENSP00000379106:R134C;ENSP00000413389:R388C	.|ENSP00000261646:R388C	A|R	-|-	2|1	0|0	SREBF1|SREBF1	17662320|17662320	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.946000|0.946000	0.59487|0.59487	5.568000|5.568000	0.67385|0.67385	2.402000|2.402000	0.81655|0.81655	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.542	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		4	121	0	0	0	1	0	4	121				
Unknown	0	broad.mit.edu	37	6	28244794	28244794	+	IGR	SNP	G	G	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:28244794G>T								NKAPL (16058 upstream) : PGBD1 (4519 downstream)																							TATCAGTGTAGTGAATGTGGA	0.423																																						uc011dlc.2																			0											c.(1357-1359)aGt>aTt		Homo sapiens zinc finger protein 187 (ZNF187), transcript variant a, mRNA.							81.0	77.0	78.0					6																	28244794		1990	4189	6179	SO:0001628	intergenic_variant	7741				viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28244794G>T																													6.37:g.28244794G>T			Somatic				ZNF187_uc003nku.4_Missense_Mutation_p.S319I|ZNF187_uc003nkw.4_Missense_Mutation_p.S300I|ZNF187_uc011dle.2_Missense_Mutation_p.S300I|ZNF187_uc011dlf.2_Missense_Mutation_p.S245I|ZNF187_uc011dld.2_Missense_Mutation_p.S452I|ZNF187_uc011dlg.2_Missense_Mutation_p.S300I	p.S453I	NM_001023560	NP_001018854	WXS	Illumina GAIIx	Phase_I	Q16670	ZN187_HUMAN			4	1628	+			453						Missense_Mutation	SNP		37	c.1358G>T																																																																																				0	0.423									5	97	0	0	0	1	0	5	97				
COL11A1	1301	broad.mit.edu	37	1	103496733	103496733	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:103496733C>A	ENST00000370096.3	-	5	1031	c.719G>T	c.(718-720)aGt>aTt	p.S240I	COL11A1_ENST00000358392.2_Missense_Mutation_p.S240I|COL11A1_ENST00000353414.4_Missense_Mutation_p.S240I|COL11A1_ENST00000512756.1_Missense_Mutation_p.S240I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	240	Laminin G-like.|Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACAGTCTGGACTATAATGCTC	0.453																																						uc001dum.3																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(718-720)aGt>aTt		Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.							110.0	97.0	101.0					1																	103496733		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103496733C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.719G>T	1.37:g.103496733C>A	ENSP00000359114:p.Ser240Ile		Somatic				COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.S240I|COL11A1_uc001dun.3_Missense_Mutation_p.S240I|COL11A1_uc009weh.3_Missense_Mutation_p.S240I	p.S240I	NM_080629	NP_542196	WXS	Illumina GAIIx	Phase_I	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	4	1037	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	240			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.719G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467084	0.43839	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	D;D;D;D;D;T	0.89270	-2.42;-2.44;-2.48;-2.49;-2.13;3.15	5.59	5.59	0.84812	Concanavalin A-like lectin/glucanase (1);	0.181870	0.64402	D	0.000018	T	0.76205	0.3955	L	0.41027	1.25	0.48830	D	0.999717	B;B;B;B	0.16603	0.0;0.004;0.018;0.002	B;B;B;B	0.12156	0.002;0.005;0.007;0.002	T	0.71364	-0.4615	10	0.17832	T	0.49	.	14.4336	0.67266	0.1474:0.8526:0.0:0.0	.	240;240;240;240	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	I	240;240;240;240;240;167	ENSP00000359114:S240I;ENSP00000351163:S240I;ENSP00000302551:S240I;ENSP00000426533:S240I;ENSP00000408640:S240I;ENSP00000410177:S167I	ENSP00000302551:S240I	S	-	2	0	COL11A1	103269321	1.000000	0.71417	0.944000	0.38274	0.998000	0.95712	3.550000	0.53691	2.631000	0.89168	0.551000	0.68910	AGT		0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	34	0	0	0	1	0	5	34				
PCDHGB3	56102	broad.mit.edu	37	5	140778384	140778384	+	Intron	SNP	C	C	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr5:140778384C>T	ENST00000576222.1	+	1	2546				PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCCGGATCCAGGTAACCG	0.547																																						uc003lkf.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(688-690)atC>atT		Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.							100.0	106.0	104.0					5																	140778384		2017	4175	6192	SO:0001627	intron_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140778384C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26008C>T	5.37:g.140778384C>T			Somatic				PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.I230I	p.I230I	NM_018925	NP_061748	WXS	Illumina GAIIx	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	690	+			230			Cadherin 2.		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.690C>T	CCDS58980.1																																																																																				0.547	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		34	201	0	0	0	1	0	34	201				
KRR1	11103	broad.mit.edu	37	12	75902108	75902108	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:75902108C>A	ENST00000229214.4	-	2	227	c.204G>T	c.(202-204)agG>agT	p.R68S	KRR1_ENST00000438169.2_Missense_Mutation_p.R68S	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	68					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AGTAAGCTTCCCTGTATTTTG	0.413																																						uc001sxt.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(202-204)agG>agT		Homo sapiens KRR1, small subunit (SSU) processome component, homolog (yeast) (KRR1), mRNA.							117.0	110.0	113.0					12																	75902108		2203	4300	6503	SO:0001583	missense	11103				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75902108C>A	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.204G>T	12.37:g.75902108C>A	ENSP00000229214:p.Arg68Ser		Somatic				KRR1_uc009zsc.3_Missense_Mutation_p.R68S|KRR1_uc010stx.2_Missense_Mutation_p.R68S	p.R68S	NM_007043	NP_008974	WXS	Illumina GAIIx	Phase_I	Q13601	KRR1_HUMAN			1	245	-			68					A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	c.204G>T	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854822	0.71719	.	.	ENSG00000111615	ENST00000229214;ENST00000438169	T;T	0.45276	0.9;0.9	5.96	-0.577	0.11727	.	0.000000	0.85682	D	0.000000	T	0.65719	0.2718	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.64618	-0.6365	10	0.87932	D	0	-15.0909	6.325	0.21239	0.0:0.2694:0.1196:0.6109	.	68;68;68	B4DMS5;E7EUQ0;Q13601	.;.;KRR1_HUMAN	S	68	ENSP00000229214:R68S;ENSP00000411740:R68S	ENSP00000229214:R68S	R	-	3	2	KRR1	74188375	1.000000	0.71417	0.983000	0.44433	0.924000	0.55760	0.578000	0.23773	-0.085000	0.12573	-0.937000	0.02696	AGG		0.413	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		13	60	0	0	0	1	0	13	60				
MAMDC4	158056	broad.mit.edu	37	9	139751442	139751442	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr9:139751442G>A	ENST00000317446.2	+	16	1971	c.1921G>A	c.(1921-1923)Gca>Aca	p.A641T	MAMDC4_ENST00000445819.1_Missense_Mutation_p.A720T|MAMDC4_ENST00000485732.1_3'UTR	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGTGCCAGCAGCACCCACGGA	0.687																																						uc004cjs.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(1921-1923)Gca>Aca		Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.							34.0	38.0	36.0					9																	139751442		2200	4298	6498	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139751442G>A	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.1921G>A	9.37:g.139751442G>A	ENSP00000319388:p.Ala641Thr		Somatic				MAMDC4_uc011mej.2_5'UTR	p.A641T	NM_206920	NP_996803	WXS	Illumina GAIIx	Phase_I	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	15	1971	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	720			MAM 3.			Missense_Mutation	SNP	ENST00000317446.2	37	c.1921G>A	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	5.096|5.096	0.203294|0.203294	0.09704|0.09704	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.01787|.	4.64;4.64|.	5.02|5.02	1.93|1.93	0.25924|0.25924	.|.	0.781182|.	0.11425|.	N|.	0.565398|.	T|T	0.21881|0.21881	0.0527|0.0527	N|N	0.13327|0.13327	0.33|0.33	0.09310|0.09310	N|N	1|1	B|.	0.24618|.	0.107|.	B|.	0.22880|.	0.042|.	T|T	0.23084|0.23084	-1.0198|-1.0198	10|5	0.10111|.	T|.	0.7|.	-4.9669|-4.9669	8.9575|8.9575	0.35827|0.35827	0.2699:0.0:0.7301:0.0|0.2699:0.0:0.7301:0.0	.|.	641|.	Q6UXC1-2|.	.|.	T|N	641;720|705	ENSP00000319388:A641T;ENSP00000411339:A720T|.	ENSP00000319388:A641T|.	A|S	+|+	1|2	0|0	MAMDC4|MAMDC4	138871263|138871263	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	0.224000|0.224000	0.17738|0.17738	0.963000|0.963000	0.38082|0.38082	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.687	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		3	62	0	0	0	1	0	3	62				
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		610	Substitution - Missense(609)|Complex(1)	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61K	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		83	128	0	0	0	1	0	83	128				
AKAP2	11217	broad.mit.edu	37	9	112811016	112811033	+	In_Frame_Del	DEL	CCCCCGGAGTCTCCTGGA	CCCCCGGAGTCTCCTGGA	-	rs551064067	byFrequency	TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr9:112811016_112811033delCCCCCGGAGTCTCCTGGA	ENST00000374525.1	+	1	41_58	c.37_54delCCCCCGGAGTCTCCTGGA	c.(37-54)cccccggagtctcctggadel	p.PPESPG19del	PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000434623.2_In_Frame_Del_p.PPESPG19del|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000302798.7_Intron	NM_001004065.4	NP_001004065.2	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	373										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CGCTCGCCTTCCCCCGGAGTCTCCTGGACCCCCGGAGT	0.789														255	0.0509185	0.0038	0.0375	5008	,	,		10950	0.0417		0.0616	False		,,,				2504	0.1227					uc011lwi.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(37-54)cccccggagtctcctggadel		Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 3, mRNA.																																				SO:0001651	inframe_deletion	445815						enzyme binding	g.chr9:112811016_112811033delCCCCCGGAGTCTCCTGGA	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000374525.1:c.37_54delCCCCCGGAGTCTCCTGGA	9.37:g.112811016_112811033delCCCCCGGAGTCTCCTGGA	ENSP00000363649:p.Pro19_Gly24del		Somatic				PALM2-AKAP2_uc004bei.2_Intron|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron|PALM2-AKAP2_uc004bem.3_In_Frame_Del_p.PPESPG19del	p.PPESPG19del	NM_001198656	NP_001185585	WXS	Illumina GAIIx	Phase_I	Q9Y2D5	AKAP2_HUMAN			0	139_156	+			373					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	In_Frame_Del	DEL	ENST00000374525.1	37	c.37_54delCCCCCGGAGTCTCCTGGA	CCDS43861.1																																																																																				0.789	AKAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053609.3	NM_001004065		3	5						3	5	---	---	---	---
