#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PIK3CD	5293	broad.mit.edu	37	1	9775907	9775907	+	Splice_Site	SNP	G	G	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr1:9775907G>A	ENST00000377346.4	+	5	566	c.371G>A	c.(370-372)gGc>gAc	p.G124D	PIK3CD_ENST00000361110.2_Splice_Site_p.G124D|PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000536656.1_Splice_Site_p.G124D	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	124					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CACCCCGCAGGCCTCCACGAG	0.682																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(370-372)gGc>gAc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							13.0	15.0	15.0					1																	9775907		2196	4294	6490	SO:0001630	splice_region_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9775907G>A		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.371-1G>A	1.37:g.9775907G>A						PIK3CD_ENST00000377346.4_Splice_Site_p.G124D|PIK3CD_ENST00000361110.2_Splice_Site_p.G124D	p.G124D			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	5	579	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	124					A6NCG0|G1FFP1|O15445|Q5SR49	Splice_Site	SNP	ENST00000377346.4	37	c.371G>A	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.931385	0.73442	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.45668	0.89;0.89;0.89	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	L	0.60455	1.87	0.80722	D	1	P;D;D	0.89917	0.823;1.0;1.0	B;D;D	0.74674	0.414;0.984;0.984	T	0.58482	-0.7629	9	.	.	.	.	19.5625	0.95378	0.0:0.0:1.0:0.0	.	124;124;124	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	D	124	ENSP00000446444:G124D;ENSP00000366563:G124D;ENSP00000354410:G124D	.	G	+	2	0	PIK3CD	9698494	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	9.424000	0.97464	2.620000	0.88729	0.563000	0.77884	GGC		0.682	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026	Missense_Mutation	3	24	3	24	---	---	---	---
EFCAB7	84455	broad.mit.edu	37	1	63991268	63991268	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr1:63991268G>A	ENST00000371088.4	+	2	271	c.25G>A	c.(25-27)Gca>Aca	p.A9T	ITGB3BP_ENST00000371092.3_5'Flank|ITGB3BP_ENST00000271002.10_5'Flank|ITGB3BP_ENST00000283568.8_5'Flank	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	9							calcium ion binding (GO:0005509)	p.A9T(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						ACGAAGCGATGCAACTTTCTC	0.358																																						ENST00000371088.4																			1	Substitution - Missense(1)	p.A9T(1)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(25-27)Gca>Aca		EF-hand calcium binding domain 7							73.0	80.0	77.0					1																	63991268		2203	4300	6503	SO:0001583	missense	84455						calcium ion binding	g.chr1:63991268G>A	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.25G>A	1.37:g.63991268G>A	ENSP00000360129:p.Ala9Thr						p.A9T	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			2	271	+			9					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.25G>A	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	G	8.199	0.797726	0.16327	.	.	ENSG00000203965	ENST00000371088	T	0.60797	0.16	5.01	0.954	0.19595	.	0.655308	0.15711	N	0.248415	T	0.25606	0.0623	L	0.51422	1.61	0.09310	N	0.999998	B	0.25772	0.134	B	0.17979	0.02	T	0.22695	-1.0209	10	0.72032	D	0.01	-0.4872	5.1033	0.14772	0.294:0.0:0.575:0.1309	.	9	A8K855	EFCB7_HUMAN	T	9	ENSP00000360129:A9T	ENSP00000360129:A9T	A	+	1	0	EFCAB7	63763856	0.047000	0.20315	0.113000	0.21522	0.073000	0.16967	0.752000	0.26362	0.157000	0.19338	-0.300000	0.09419	GCA		0.358	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		6	100	6	100	---	---	---	---
TRIM43	129868	broad.mit.edu	37	2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A	rs201221399		TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398																																						ENST00000272395.2																			2	Substitution - Missense(2)	p.G162R(2)	lung(2)	breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(484-486)Gga>Aga		tripartite motif containing 43							71.0	67.0	68.0					2																	96260870		2203	4300	6503	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96260870G>A	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.484G>A	2.37:g.96260870G>A	ENSP00000272395:p.Gly162Arg						p.G162R	NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN			3	620	+			162					Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.484G>A	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.704919	0.00719	.	.	ENSG00000144015	ENST00000272395	T	0.04603	3.59	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04297	-0.235	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	9	0.08381	T	0.77	5.3819	2.9369	0.05817	0.51:0.0:0.285:0.205	.	162	Q96BQ3	TRI43_HUMAN	R	162	ENSP00000272395:G162R	ENSP00000272395:G162R	G	+	1	0	TRIM43	95624597	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.758000	0.01810	-2.941000	0.00297	-2.114000	0.00352	GGA		0.398	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		4	50	4	50	---	---	---	---
ZAP70	7535	broad.mit.edu	37	2	98355918	98355918	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr2:98355918G>A	ENST00000264972.5	+	14	2032	c.1817G>A	c.(1816-1818)gGg>gAg	p.G606E	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.G299E|ZAP70_ENST00000442208.1_Missense_Mutation_p.G480E	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	606					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AAGGTGGAAGGGCCCCCAGGC	0.687																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1816-1818)gGg>gAg		zeta-chain (TCR) associated protein kinase 70kDa							44.0	41.0	42.0					2																	98355918		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98355918G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1817G>A	2.37:g.98355918G>A	ENSP00000264972:p.Gly606Glu					ZAP70_ENST00000451498.2_Missense_Mutation_p.G299E|ZAP70_ENST00000442208.1_Missense_Mutation_p.G480E|ZAP70_ENST00000463643.1_3'UTR	p.G606E	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			14	2032	+			606					A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1817G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461511	0.26248	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.71341	-0.56;-0.56;-0.54	4.51	-2.79	0.05841	.	0.780519	0.10590	U	0.656921	T	0.39545	0.1082	N	0.14661	0.345	0.09310	N	1	B;B	0.14012	0.001;0.009	B;B	0.14023	0.002;0.01	T	0.34551	-0.9824	10	0.02654	T	1	.	1.9424	0.03349	0.21:0.2568:0.4036:0.1297	.	480;606	P43403-3;P43403	.;ZAP70_HUMAN	E	606;480;299	ENSP00000264972:G606E;ENSP00000411141:G480E;ENSP00000400475:G299E	ENSP00000264972:G606E	G	+	2	0	ZAP70	97722350	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.323000	0.07997	-0.531000	0.06340	-0.165000	0.13383	GGG		0.687	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			17	19	17	19	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168067309	168067309	+	De_novo_Start_InFrame	SNP	T	T	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr2:168067309T>A	ENST00000409605.1	+	0	314				XIRP2_ENST00000409043.1_Silent_p.G209G|XIRP2_ENST00000409195.1_Silent_p.G209G|XIRP2_ENST00000295237.9_Silent_p.G209G|XIRP2_ENST00000409728.1_Silent_p.G242G|XIRP2_ENST00000409756.2_Silent_p.G209G|XIRP2_ENST00000420519.1_Silent_p.G242G|XIRP2_ENST00000409273.1_De_novo_Start_InFrame	NM_001199145.1	NP_001186074.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2						actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGGGCGAGGGTGTGTCAGACC	0.552																																						ENST00000409273.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315								xin actin-binding repeat containing 2							122.0	130.0	127.0					2																	168067309		2078	4209	6287			129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168067309T>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027		2.37:g.168067309T>A						XIRP2_ENST00000420519.1_Silent_p.G242G|XIRP2_ENST00000409605.1_De_novo_Start_InFrame|XIRP2_ENST00000409728.1_Silent_p.G242G|XIRP2_ENST00000409043.1_Silent_p.G209G|XIRP2_ENST00000295237.9_Silent_p.G209G|XIRP2_ENST00000409195.1_Silent_p.G209G|XIRP2_ENST00000409756.2_Silent_p.G209G		NM_001199144.1	NP_001186073.1	A4UGR9	XIRP2_HUMAN			0	314	+								A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Translation_Start_Site	SNP	ENST00000409605.1	37		CCDS56145.1																																																																																				0.552	XIRP2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000333553.2	NM_152381		60	60	60	60	---	---	---	---
STAT4	6775	broad.mit.edu	37	2	191897829	191897829	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr2:191897829C>A	ENST00000392320.2	-	21	2213	c.1899G>T	c.(1897-1899)ttG>ttT	p.L633F	STAT4_ENST00000358470.4_Missense_Mutation_p.L633F|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	633	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GCAGAGCAGACAACCGGCCTT	0.428																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1897-1899)ttG>ttT		signal transducer and activator of transcription 4							106.0	107.0	107.0					2																	191897829		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191897829C>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1899G>T	2.37:g.191897829C>A	ENSP00000376134:p.Leu633Phe					STAT4_ENST00000358470.4_Missense_Mutation_p.L633F	p.L633F	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		21	2213	-			633			SH2.		Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.1899G>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610605	0.66558	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.97352	-4.35;-4.35	5.38	3.53	0.40419	SH2 motif (3);	0.000000	0.85682	D	0.000000	D	0.96984	0.9015	L	0.42581	1.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96658	0.9487	10	0.87932	D	0	-25.1617	9.5199	0.39129	0.0:0.7465:0.0:0.2535	.	542;633;633	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	F	633	ENSP00000351255:L633F;ENSP00000376134:L633F	ENSP00000351255:L633F	L	-	3	2	STAT4	191606074	0.997000	0.39634	0.999000	0.59377	0.997000	0.91878	0.659000	0.24994	1.369000	0.46134	0.650000	0.86243	TTG		0.428	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		29	30	29	30	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121248495	121248495	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr3:121248495C>T	ENST00000264233.5	-	7	1233	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	369	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AACTCACCCTCAGCTTGATGA	0.358								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1105-1107)Gag>Aag	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							168.0	163.0	165.0					3																	121248495		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121248495C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1105G>A	3.37:g.121248495C>T	ENSP00000264233:p.Glu369Lys					POLQ_ENST00000488282.1_5'UTR	p.E369K	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	7	1233	-			369			Helicase C-terminal.		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.1105G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	7.173	0.587968	0.13812	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.52057	0.68	5.29	3.48	0.39840	Helicase, C-terminal (1);	1.034350	0.07564	N	0.917502	T	0.39279	0.1072	L	0.41632	1.29	0.25038	N	0.991226	B	0.09022	0.002	B	0.06405	0.002	T	0.29518	-1.0009	10	0.25106	T	0.35	.	8.8329	0.35096	0.0:0.6401:0.2836:0.0763	.	369	O75417	DPOLQ_HUMAN	K	369;504	ENSP00000264233:E369K	ENSP00000264233:E369K	E	-	1	0	POLQ	122731185	.	.	0.378000	0.26068	0.575000	0.36095	.	.	0.595000	0.29777	-0.176000	0.13171	GAG		0.358	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		4	103	4	103	---	---	---	---
SEL1L3	23231	broad.mit.edu	37	4	25785888	25785888	+	Missense_Mutation	SNP	G	G	C	rs372755436		TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr4:25785888G>C	ENST00000399878.3	-	14	2364	c.2242C>G	c.(2242-2244)Cgg>Ggg	p.R748G	SEL1L3_ENST00000502949.1_Missense_Mutation_p.R595G|SEL1L3_ENST00000264868.5_Missense_Mutation_p.R713G	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	748						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGGCAAGCCGTCTGTTCTTT	0.438																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2242-2244)Cgg>Ggg		sel-1 suppressor of lin-12-like 3 (C. elegans)							238.0	232.0	234.0					4																	25785888		1980	4155	6135	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25785888G>C	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2242C>G	4.37:g.25785888G>C	ENSP00000382767:p.Arg748Gly					SEL1L3_ENST00000264868.5_Missense_Mutation_p.R713G|SEL1L3_ENST00000502949.1_Missense_Mutation_p.R595G	p.R748G	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			14	2364	-			748					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.2242C>G	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432892	0.43224	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.50813	0.73;0.73;0.73	5.58	3.65	0.41850	Tetratricopeptide-like helical (1);	0.376195	0.27362	N	0.019715	T	0.34395	0.0896	N	0.14661	0.345	0.33505	D	0.590385	B;P	0.42908	0.181;0.793	B;P	0.44696	0.223;0.458	T	0.48714	-0.9011	10	0.34782	T	0.22	-13.5142	11.8596	0.52459	0.0:0.0:0.4266:0.5734	.	155;748	B4DTH5;Q68CR1	.;SE1L3_HUMAN	G	748;713;595	ENSP00000382767:R748G;ENSP00000264868:R713G;ENSP00000425438:R595G	ENSP00000264868:R713G	R	-	1	2	SEL1L3	25394986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.109000	0.41863	1.348000	0.45733	0.555000	0.69702	CGG		0.438	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		93	141	93	141	---	---	---	---
EDNRA	1909	broad.mit.edu	37	4	148453712	148453712	+	Silent	SNP	A	A	G			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr4:148453712A>G	ENST00000324300.5	+	4	1118	c.603A>G	c.(601-603)gtA>gtG	p.V201V	EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000339690.5_Missense_Mutation_p.N159D|EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000503721.1_3'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	201					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TTCCTTTGGTAACTGCCATTG	0.443																																						ENST00000339690.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17						c.(475-477)Aac>Gac		endothelin receptor type A	Bosentan(DB00559)						183.0	167.0	172.0					4																	148453712		2203	4300	6503	SO:0001819	synonymous_variant	1909				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	g.chr4:148453712A>G	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.603A>G	4.37:g.148453712A>G						EDNRA_ENST00000324300.5_Silent_p.V201V|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000511804.1_5'UTR	p.N159D			P25101	EDNRA_HUMAN		GBM - Glioblastoma multiforme(119;0.154)	3	1005	+	all_hematologic(180;0.151)		0					B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	ENST00000324300.5	37	c.475A>G	CCDS3769.1	.	.	.	.	.	.	.	.	.	.	A	7.166	0.586713	0.13749	.	.	ENSG00000151617	ENST00000339690	D	0.81579	-1.51	5.55	1.33	0.21861	.	.	.	.	.	T	0.59810	0.2221	.	.	.	0.23023	N	0.99842	B	0.02656	0.0	B	0.01281	0.0	T	0.37126	-0.9719	8	0.07325	T	0.83	-14.723	9.5744	0.39447	0.153:0.7434:0.0:0.1036	.	159	P25101-2	.	D	159	ENSP00000341556:N159D	ENSP00000341556:N159D	N	+	1	0	EDNRA	148673162	0.759000	0.28416	0.993000	0.49108	0.948000	0.59901	-0.162000	0.10012	-0.075000	0.12798	-1.329000	0.01275	AAC		0.443	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			55	90	55	90	---	---	---	---
SEC63	11231	broad.mit.edu	37	6	108214759	108214759	+	Missense_Mutation	SNP	T	T	G	rs371342202		TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr6:108214759T>G	ENST00000369002.4	-	16	1780	c.1601A>C	c.(1600-1602)aAa>aCa	p.K534T		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	534	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TGTAGGTTTTTTTTTTAAAGG	0.358																																						ENST00000369002.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1600-1602)aAa>aCa		SEC63 homolog (S. cerevisiae)							112.0	117.0	115.0					6																	108214759		2202	4300	6502	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108214759T>G	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1601A>C	6.37:g.108214759T>G	ENSP00000357998:p.Lys534Thr						p.K534T	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	16	1780	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	534			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.1601A>C	CCDS5061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.205077|4.205077	0.79127|0.79127	.|.	.|.	ENSG00000025796|ENSG00000025796	ENST00000423697|ENST00000369002;ENST00000437345	.|T	.|0.64085	.|-0.08	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Sec63 domain (2);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.58481|0.58481	0.2125|0.2125	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|P;D	.|0.76494	.|0.854;0.999	.|B;D	.|0.85130	.|0.288;0.997	T|T	0.56366|0.56366	-0.7991|-0.7991	7|10	0.52906|0.18710	T|T	0.07|0.47	-22.8162|-22.8162	15.6841|15.6841	0.77396|0.77396	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|534;534	.|Q9UGP8;B3KQF0	.|SEC63_HUMAN;.	N|T	393|534;185	.|ENSP00000357998:K534T	ENSP00000394572:K393N|ENSP00000357998:K534T	K|K	-|-	3|2	2|0	SEC63|SEC63	108321452|108321452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	5.934000|5.934000	0.70138|0.70138	2.162000|2.162000	0.67917|0.67917	0.460000|0.460000	0.39030|0.39030	AAA|AAA		0.358	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		73	84	73	84	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48314144	48314144	+	Silent	SNP	T	T	C			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr7:48314144T>C	ENST00000435803.1	+	17	4905	c.4881T>C	c.(4879-4881)gcT>gcC	p.A1627A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1627					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAATGAAAGCTACAGGTCTTG	0.368																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(4879-4881)gcT>gcC		ATP-binding cassette, sub-family A (ABC1), member 13							167.0	163.0	164.0					7																	48314144		1861	4090	5951	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314144T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4881T>C	7.37:g.48314144T>C							p.A1627A	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	4905	+			1627					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.4881T>C	CCDS47584.1																																																																																				0.368	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		68	84	68	84	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113599319	113599319	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr8:113599319A>C	ENST00000297405.5	-	23	4105	c.3861T>G	c.(3859-3861)caT>caG	p.H1287Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.H1183Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.H1247Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.H1287Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1287	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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						CTTGTGCTAAATGAAATGTTC	0.308										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(3859-3861)caT>caG		CUB and Sushi multiple domains 3							121.0	110.0	114.0					8																	113599319		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113599319A>C	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.3861T>G	8.37:g.113599319A>C	ENSP00000297405:p.His1287Gln	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.H1247Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.H1287Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.H1183Q	p.H1287Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			23	4105	-			1287			CUB 7.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3861T>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	6.441	0.449588	0.12223	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	4.08	1.74	0.24563	CUB (5);	0.197424	0.38663	N	0.001615	T	0.06872	0.0175	N	0.04787	-0.16	0.24573	N	0.993914	B;B;B	0.23128	0.065;0.08;0.04	B;B;B	0.24006	0.03;0.05;0.032	T	0.38993	-0.9635	10	0.17832	T	0.49	.	7.8831	0.29633	0.6751:0.0:0.3249:0.0	.	1183;1287;1247	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	1247;1287;627;1183;1287	ENSP00000345799:H1247Q;ENSP00000297405:H1287Q;ENSP00000341558:H627Q;ENSP00000412263:H1183Q;ENSP00000343124:H1287Q	ENSP00000297405:H1287Q	H	-	3	2	CSMD3	113668495	0.963000	0.33076	1.000000	0.80357	0.997000	0.91878	0.389000	0.20751	0.727000	0.32360	0.482000	0.46254	CAT		0.308	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		27	26	27	26	---	---	---	---
KIAA2026	158358	broad.mit.edu	37	9	6007388	6007388	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr9:6007388C>A	ENST00000399933.3	-	1	399	c.400G>T	c.(400-402)Gga>Tga	p.G134*	MIR4665_ENST00000581132.1_RNA|KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.G134*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	134										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATGCCCTGTCCGGGCTGCTGC	0.692																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(400-402)Gga>Tga		KIAA2026							18.0	21.0	20.0					9																	6007388		1894	4092	5986	SO:0001587	stop_gained	158358							g.chr9:6007388C>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.400G>T	9.37:g.6007388C>A	ENSP00000382815:p.Gly134*					KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.G134*	p.G134*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	1	399	-		Acute lymphoblastic leukemia(23;0.158)	134					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Nonsense_Mutation	SNP	ENST00000399933.3	37	c.400G>T		.	.	.	.	.	.	.	.	.	.	C	15.10	2.731737	0.48939	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	4.43	2.54	0.30619	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	6.1805	0.20468	0.0:0.6172:0.1981:0.1847	.	.	.	.	X	134	.	ENSP00000370870:G134X	G	-	1	0	KIAA2026	5997388	0.007000	0.16637	0.033000	0.17914	0.206000	0.24218	0.812000	0.27211	0.419000	0.25927	-0.224000	0.12420	GGA		0.692	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		10	14	10	14	---	---	---	---
CDK20	23552	broad.mit.edu	37	9	90585482	90585482	+	Splice_Site	SNP	C	C	G			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr9:90585482C>G	ENST00000325303.8	-	5	869		c.e5+1		CDK20_ENST00000336654.5_Intron|CDK20_ENST00000375883.3_Intron|CDK20_ENST00000605159.1_Intron|CDK20_ENST00000375871.4_Intron	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20						cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			skin(1)	1						AGGGGTCTCACCACAGATCGA	0.592																																						ENST00000325303.8																			0				skin(1)	1						c.e5+1		cyclin-dependent kinase 20							48.0	42.0	44.0					9																	90585482		2203	4300	6503	SO:0001630	splice_region_variant	23552				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr9:90585482C>G	AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.563+1G>C	9.37:g.90585482C>G						CDK20_ENST00000336654.5_Intron|CDK20_ENST00000375883.3_Intron|CDK20_ENST00000605159.1_Intron|CDK20_ENST00000375871.4_Intron		NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN			5	869	-								A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Splice_Site	SNP	ENST00000325303.8	37		CCDS35060.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992773	0.54041	.	.	ENSG00000156345	ENST00000325303	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5849	0.61924	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK20	89775302	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	5.690000	0.68241	2.354000	0.79902	0.561000	0.74099	.		0.592	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	NM_012119	Intron	7	21	7	21	---	---	---	---
PALD1	27143	broad.mit.edu	37	10	72291081	72291081	+	Silent	SNP	G	G	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr10:72291081G>A	ENST00000263563.6	+	5	772	c.504G>A	c.(502-504)gtG>gtA	p.V168V		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	168						cytosol (GO:0005829)											AGGAACCTGTGCTTTTCCTGC	0.592																																						ENST00000263563.6																			0											c.(502-504)gtG>gtA		phosphatase domain containing, paladin 1							173.0	134.0	147.0					10																	72291081		2203	4300	6503	SO:0001819	synonymous_variant	27143							g.chr10:72291081G>A	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.504G>A	10.37:g.72291081G>A							p.V168V	NM_014431.2	NP_055246.2					5	772	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	c.504G>A	CCDS31215.1																																																																																				0.592	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		22	46	22	46	---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64678137	64678137	+	Missense_Mutation	SNP	C	C	T	rs574229883		TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr11:64678137C>T	ENST00000377264.3	-	12	1770	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	ATG2A_ENST00000421419.2_Missense_Mutation_p.R553Q	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	553					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCGCAGGGCCGAGCTGAGGC	0.677																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1657-1659)cGg>cAg		autophagy related 2A							54.0	53.0	53.0					11																	64678137		2195	4291	6486	SO:0001583	missense	23130						protein binding	g.chr11:64678137C>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1658G>A	11.37:g.64678137C>T	ENSP00000366475:p.Arg553Gln					ATG2A_ENST00000377264.3_Missense_Mutation_p.R553Q	p.R553Q			Q2TAZ0	ATG2A_HUMAN			12	1772	-			553					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1658G>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	8.795	0.931559	0.18131	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.06294	3.32;3.32	4.97	0.836	0.18891	.	0.279739	0.32608	N	0.005880	T	0.03390	0.0098	L	0.28115	0.83	0.31892	N	0.61705	B	0.23316	0.083	B	0.10450	0.005	T	0.38478	-0.9659	10	0.17832	T	0.49	.	3.6105	0.08058	0.1727:0.5308:0.0:0.2965	.	553	Q2TAZ0	ATG2A_HUMAN	Q	553	ENSP00000410522:R553Q;ENSP00000366475:R553Q	ENSP00000366475:R553Q	R	-	2	0	ATG2A	64434713	0.438000	0.25602	0.930000	0.37139	0.621000	0.37620	0.166000	0.16583	-0.033000	0.13736	0.462000	0.41574	CGG		0.677	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		5	8	5	8	---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109948242	109948242	+	Missense_Mutation	SNP	C	C	G	rs375635592		TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr12:109948242C>G	ENST00000342494.3	+	17	2430	c.1835C>G	c.(1834-1836)cCc>cGc	p.P612R	UBE3B_ENST00000434735.2_Missense_Mutation_p.P612R|UBE3B_ENST00000280774.5_Missense_Mutation_p.P612R|UBE3B_ENST00000535900.1_3'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	612					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CGCTTCACCCCCGAGGACCAC	0.647																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(1834-1836)cCc>cGc		ubiquitin protein ligase E3B							32.0	29.0	30.0					12																	109948242		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109948242C>G	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1835C>G	12.37:g.109948242C>G	ENSP00000340596:p.Pro612Arg					UBE3B_ENST00000434735.2_Missense_Mutation_p.P612R|UBE3B_ENST00000280774.5_Missense_Mutation_p.P612R|UBE3B_ENST00000535900.1_3'UTR	p.P612R	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			17	2430	+			612					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.1835C>G	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895764	0.91962	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494;ENST00000539584	T;T;T;T	0.59906	0.95;0.23;1.04;0.95	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	M	0.77486	2.375	0.80722	D	1	D	0.69078	0.997	P	0.61132	0.884	T	0.79052	-0.1961	10	0.87932	D	0	-11.3364	17.4677	0.87638	0.0:1.0:0.0:0.0	.	612	Q7Z3V4	UBE3B_HUMAN	R	612;612;612;612;39	ENSP00000391529:P612R;ENSP00000280774:P612R;ENSP00000443131:P612R;ENSP00000340596:P612R	ENSP00000280774:P612R	P	+	2	0	UBE3B	108432625	1.000000	0.71417	0.978000	0.43139	0.982000	0.71751	7.440000	0.80464	2.370000	0.80446	0.462000	0.41574	CCC		0.647	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		6	10	6	10	---	---	---	---
FAM101A	144347	broad.mit.edu	37	12	124798835	124798835	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr12:124798835G>A	ENST00000389727.3	+	3	415	c.415G>A	c.(415-417)Gtg>Atg	p.V139M	FAM101A_ENST00000324038.3_Missense_Mutation_p.V58M|FAM101A_ENST00000338359.4_Missense_Mutation_p.V58M|FAM101A_ENST00000546355.1_Missense_Mutation_p.V58M			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	139										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CGAGACCATCGTGGCAGCACC	0.637																																						ENST00000324038.3																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(172-174)Gtg>Atg		family with sequence similarity 101, member A							104.0	91.0	96.0					12																	124798835		2203	4300	6503	SO:0001583	missense	144347							g.chr12:124798835G>A		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.415G>A	12.37:g.124798835G>A	ENSP00000374377:p.Val139Met					FAM101A_ENST00000338359.4_Missense_Mutation_p.V58M|FAM101A_ENST00000546355.1_Missense_Mutation_p.V58M|FAM101A_ENST00000389727.3_Missense_Mutation_p.V139M	p.V58M	NM_181709.4	NP_859060.3	Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	3	415	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		139					A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37	c.172G>A		.	.	.	.	.	.	.	.	.	.	G	10.36	1.328395	0.24080	.	.	ENSG00000178882	ENST00000324038;ENST00000541200;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	0.831	0.18860	.	0.134143	0.50627	D	0.000120	T	0.35422	0.0931	L	0.55481	1.735	0.41956	D	0.990681	P	0.38300	0.626	B	0.27170	0.077	T	0.12293	-1.0553	9	0.62326	D	0.03	-22.7475	3.5012	0.07673	0.5057:0.2061:0.2881:0.0	.	139	Q6ZTI6	F101A_HUMAN	M	58;58;139;58;58	.	ENSP00000315626:V58M	V	+	1	0	FAM101A	123364788	1.000000	0.71417	0.709000	0.30452	0.041000	0.13682	2.782000	0.47758	0.049000	0.15920	0.555000	0.69702	GTG		0.637	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		4	99	4	99	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47600972	47600972	+	Silent	SNP	C	C	T			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr14:47600972C>T	ENST00000399232.2	-	5	1027	c.663G>A	c.(661-663)agG>agA	p.R221R	MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000439988.3_Silent_p.R290R|MDGA2_ENST00000426342.1_5'UTR	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	221	Ig-like 2.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TACATACATTCCTCACTGAAG	0.328																																						ENST00000399232.2																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(661-663)agG>agA		MAM domain containing glycosylphosphatidylinositol anchor 2							126.0	112.0	117.0					14																	47600972		1861	4092	5953	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47600972C>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.663G>A	14.37:g.47600972C>T						MDGA2_ENST00000439988.3_Silent_p.R290R|MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000357362.3_5'UTR	p.R221R	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN			5	1027	-			152			Ig-like 2.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.663G>A		.	.	.	.	.	.	.	.	.	.	C	9.219	1.032962	0.19590	.	.	ENSG00000139915	ENST00000554762	.	.	.	5.34	4.45	0.53987	.	.	.	.	.	T	0.59878	0.2226	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57734	-0.7760	4	.	.	.	.	9.4306	0.38608	0.0:0.8359:0.0:0.1641	.	.	.	.	K	24	.	.	E	-	1	0	MDGA2	46670722	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.442000	0.35046	1.391000	0.46566	-0.237000	0.12165	GAA		0.328	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		42	50	42	50	---	---	---	---
GLDN	342035	broad.mit.edu	37	15	51696652	51696652	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr15:51696652G>C	ENST00000335449.6	+	10	1413	c.1357G>C	c.(1357-1359)Gat>Cat	p.D453H	GLDN_ENST00000396399.2_Missense_Mutation_p.D329H	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	453	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGCACAACTGGATGAGAGGAC	0.463																																						ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1357-1359)Gat>Cat		gliomedin							166.0	152.0	157.0					15																	51696652		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696652G>C	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1357G>C	15.37:g.51696652G>C	ENSP00000335196:p.Asp453His					GLDN_ENST00000396399.2_Missense_Mutation_p.D329H	p.D453H	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1413	+			453			Olfactomedin-like.		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.1357G>C	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860481	0.71834	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.91351	-2.83;-2.83	5.71	5.71	0.89125	Olfactomedin-like (3);	0.503892	0.16522	N	0.210747	D	0.94971	0.8373	M	0.67517	2.055	0.80722	D	1	D	0.69078	0.997	D	0.69307	0.963	D	0.94581	0.7779	10	0.66056	D	0.02	.	19.8534	0.96748	0.0:0.0:1.0:0.0	.	453	Q6ZMI3	GLDN_HUMAN	H	453;329;329	ENSP00000335196:D453H;ENSP00000379681:D329H	ENSP00000335196:D453H	D	+	1	0	GLDN	49483944	1.000000	0.71417	0.996000	0.52242	0.713000	0.41058	7.639000	0.83342	2.711000	0.92665	0.563000	0.77884	GAT		0.463	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		29	87	29	87	---	---	---	---
MKL2	57496	broad.mit.edu	37	16	14355248	14355248	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr16:14355248A>G	ENST00000341243.5	+	15	3214	c.3214A>G	c.(3214-3216)Atg>Gtg	p.M1072V	MKL2_ENST00000574045.1_Missense_Mutation_p.M1033V|MKL2_ENST00000571589.1_Missense_Mutation_p.M1083V|MKL2_ENST00000318282.5_Missense_Mutation_p.M1033V			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	1072					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGCGCCGAGCATGTTCTCTGC	0.502																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(3247-3249)Atg>Gtg		MKL/myocardin-like 2							69.0	69.0	69.0					16																	14355248		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14355248A>G	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.3214A>G	16.37:g.14355248A>G	ENSP00000345841:p.Met1072Val					MKL2_ENST00000574045.1_Missense_Mutation_p.M1033V|MKL2_ENST00000341243.5_Missense_Mutation_p.M1072V|MKL2_ENST00000318282.5_Missense_Mutation_p.M1033V	p.M1083V	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			17	3419	+			1072					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.3247A>G		.	.	.	.	.	.	.	.	.	.	A	0.011	-1.719782	0.00700	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.72	2.32	0.28847	.	0.243335	0.42682	N	0.000666	T	0.11665	0.0284	N	0.03050	-0.425	0.26704	N	0.971113	B;B	0.09022	0.0;0.002	B;B	0.08055	0.0;0.003	T	0.35176	-0.9799	9	0.02654	T	1	-13.1569	7.7932	0.29133	0.6811:0.0:0.3189:0.0	.	1083;1033	B4DGT8;Q9ULH7-4	.;.	V	1033;1072	.	ENSP00000339086:M1033V	M	+	1	0	MKL2	14262749	0.196000	0.23350	0.527000	0.27925	0.036000	0.12997	0.555000	0.23422	0.452000	0.26830	-0.326000	0.08463	ATG		0.502	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		20	49	20	49	---	---	---	---
ENKD1	84080	broad.mit.edu	37	16	67699024	67699024	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr16:67699024C>A	ENST00000243878.4	-	3	649	c.328G>T	c.(328-330)Gag>Tag	p.E110*	ENKD1_ENST00000602409.1_5'UTR|ENKD1_ENST00000602644.1_Nonsense_Mutation_p.E110*|C16orf86_ENST00000403458.4_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	110						cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											TTCTGAATCTCCCTGATCCGC	0.602																																						ENST00000243878.4																			0											c.(328-330)Gag>Tag		enkurin domain containing 1							167.0	181.0	176.0					16																	67699024		2198	4300	6498	SO:0001587	stop_gained	84080							g.chr16:67699024C>A	BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 48"""	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.328G>T	16.37:g.67699024C>A	ENSP00000243878:p.Glu110*					ENKD1_ENST00000602409.1_5'UTR|ENKD1_ENST00000602644.1_Nonsense_Mutation_p.E110*	p.E110*	NM_032140.1	NP_115516.1					3	649	-								Q6UWD7	Nonsense_Mutation	SNP	ENST00000243878.4	37	c.328G>T	CCDS10844.1	.	.	.	.	.	.	.	.	.	.	C	39	7.306565	0.98200	.	.	ENSG00000124074	ENST00000243878	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-15.5497	19.213	0.93765	0.0:1.0:0.0:0.0	.	.	.	.	X	110	.	ENSP00000243878:E110X	E	-	1	0	C16orf48	66256525	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.971000	0.76105	2.653000	0.90120	0.563000	0.77884	GAG		0.602	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140		8	102	8	102	---	---	---	---
MCM8	84515	broad.mit.edu	37	20	5965438	5965438	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr20:5965438C>A	ENST00000378896.3	+	15	2122	c.1745C>A	c.(1744-1746)gCa>gAa	p.A582E	MCM8_ENST00000378883.1_Missense_Mutation_p.A535E|MCM8_ENST00000265187.4_Missense_Mutation_p.A566E|MCM8_ENST00000378886.2_Missense_Mutation_p.A622E	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	582	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ATGGGGAGTGCACTACTATCC	0.353																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(1744-1746)gCa>gAa		minichromosome maintenance complex component 8							147.0	135.0	139.0					20																	5965438		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5965438C>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1745C>A	20.37:g.5965438C>A	ENSP00000368174:p.Ala582Glu					MCM8_ENST00000378886.2_Missense_Mutation_p.A622E|MCM8_ENST00000265187.4_Missense_Mutation_p.A566E|MCM8_ENST00000378883.1_Missense_Mutation_p.A535E	p.A582E	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			15	2122	+			582			MCM.		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.1745C>A	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926575	0.92319	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.78	5.78	0.91487	ATPase, AAA+ type, core (1);	0.049083	0.85682	D	0.000000	T	0.49304	0.1549	M	0.91510	3.215	0.80722	D	1	D;D;P;D	0.76494	0.999;0.963;0.796;0.966	D;D;P;P	0.74674	0.984;0.931;0.826;0.892	T	0.57388	-0.7820	10	0.87932	D	0	-11.4711	20.3754	0.98918	0.0:1.0:0.0:0.0	.	535;622;566;582	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	E	582;535;622;566	ENSP00000368174:A582E;ENSP00000368161:A535E;ENSP00000368164:A622E;ENSP00000265187:A566E	ENSP00000265187:A566E	A	+	2	0	MCM8	5913438	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.171000	0.77595	2.894000	0.99253	0.591000	0.81541	GCA		0.353	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		4	60	4	60	---	---	---	---
BPIFA1	51297	broad.mit.edu	37	20	31825867	31825867	+	Missense_Mutation	SNP	G	G	A	rs375396851		TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr20:31825867G>A	ENST00000354297.4	+	3	238	c.167G>A	c.(166-168)aGc>aAc	p.S56N	BPIFA1_ENST00000375413.4_Missense_Mutation_p.S56N|BPIFA1_ENST00000375422.2_Missense_Mutation_p.S56N	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	56					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										CCAGCCCTCAGCAATGGCCTG	0.602																																						ENST00000354297.4																			0											c.(166-168)aGc>aAc		BPI fold containing family A, member 1		G	ASN/SER,ASN/SER	1,4405	2.1+/-5.4	0,1,2202	44.0	45.0	45.0		167,167	0.9	1.0	20		45	0,8600		0,0,4300	no	missense,missense	BPIFA1	NM_016583.3,NM_130852.2	46,46	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	56/257,56/257	31825867	1,13005	2203	4300	6503	SO:0001583	missense	51297				innate immune response	extracellular region	lipid binding	g.chr20:31825867G>A	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.167G>A	20.37:g.31825867G>A	ENSP00000346251:p.Ser56Asn					BPIFA1_ENST00000375413.4_Missense_Mutation_p.S56N|BPIFA1_ENST00000375422.2_Missense_Mutation_p.S56N	p.S56N	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN			3	238	+			56					A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	c.167G>A	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519514	0.27211	2.27E-4	0.0	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.12672	2.66;2.66;2.66	5.54	0.896	0.19253	.	0.543878	0.19203	N	0.120125	T	0.14657	0.0354	M	0.61703	1.905	0.23798	N	0.996814	P	0.39665	0.682	B	0.35550	0.205	T	0.15150	-1.0447	10	0.23891	T	0.37	-7.2081	16.3214	0.82952	0.0:0.7321:0.2679:0.0	.	56	Q9NP55	BPIA1_HUMAN	N	56;56;56;42	ENSP00000364571:S56N;ENSP00000346251:S56N;ENSP00000364562:S56N	ENSP00000346251:S56N	S	+	2	0	BPIFA1	31289528	0.297000	0.24408	0.971000	0.41717	0.417000	0.31264	0.310000	0.19356	0.348000	0.23949	0.655000	0.94253	AGC		0.602	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		15	22	15	22	---	---	---	---
ZBTB46	140685	broad.mit.edu	37	20	62421621	62421621	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr20:62421621C>T	ENST00000245663.4	-	2	640	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	ZBTB46_ENST00000302995.2_Missense_Mutation_p.G164R|ZBTB46_ENST00000395104.1_Missense_Mutation_p.G164R|ZBTB46_ENST00000480766.1_5'Flank	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	164					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					ATGCTCCTCCCAGCCATCACG	0.637																																						ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(490-492)Ggg>Agg		zinc finger and BTB domain containing 46							26.0	24.0	24.0					20																	62421621		2203	4300	6503	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421621C>T	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.490G>A	20.37:g.62421621C>T	ENSP00000245663:p.Gly164Arg					ZBTB46_ENST00000302995.2_Missense_Mutation_p.G164R|ZBTB46_ENST00000395104.1_Missense_Mutation_p.G164R	p.G164R	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			2	640	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		164					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.490G>A	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904535	0.33628	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.11604	2.76;2.76;2.76	5.64	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.22898	0.0553	M	0.61703	1.905	0.39925	D	0.974202	D	0.63880	0.993	P	0.59288	0.855	T	0.09292	-1.0681	10	0.14252	T	0.57	.	13.8305	0.63377	0.0:0.9263:0.0:0.0737	.	164	Q86UZ6	ZBT46_HUMAN	R	164	ENSP00000245663:G164R;ENSP00000303102:G164R;ENSP00000378536:G164R	ENSP00000245663:G164R	G	-	1	0	ZBTB46	61892065	1.000000	0.71417	0.092000	0.20876	0.013000	0.08279	7.372000	0.79612	1.400000	0.46741	-0.157000	0.13467	GGG		0.637	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		11	20	11	20	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47847672	47847672	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr21:47847672C>T	ENST00000359568.5	+	34	7564	c.7457C>T	c.(7456-7458)tCc>tTc	p.S2486F	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2486					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGTCACAGCTCCCTGCTCGAA	0.607																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(7456-7458)tCc>tTc		pericentrin							65.0	67.0	66.0					21																	47847672		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47847672C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7457C>T	21.37:g.47847672C>T	ENSP00000352572:p.Ser2486Phe					PCNT_ENST00000480896.1_3'UTR	p.S2486F	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			34	7564	+	Breast(49;0.112)		2486					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.7457C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	0.941	-0.709547	0.03230	.	.	ENSG00000160299	ENST00000359568	T	0.01725	4.67	5.34	-0.974	0.10293	.	1.418280	0.05036	N	0.475508	T	0.01730	0.0055	N	0.25647	0.755	0.09310	N	1	B;B	0.12630	0.006;0.002	B;B	0.16722	0.016;0.001	T	0.49173	-0.8967	10	0.72032	D	0.01	.	3.2595	0.06844	0.2097:0.4542:0.2048:0.1313	.	2368;2486	O95613-2;O95613	.;PCNT_HUMAN	F	2486	ENSP00000352572:S2486F	ENSP00000352572:S2486F	S	+	2	0	PCNT	46672100	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.127000	0.15790	-0.884000	0.03976	-3.308000	0.00045	TCC		0.607	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		7	23	7	23	---	---	---	---
SGSH	6448	broad.mit.edu	37	17	78187632	78187632	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr17:78187632delT	ENST00000326317.6	-	6	802	c.716delA	c.(715-717)cagfs	p.Q239fs	SGSH_ENST00000570923.1_Frame_Shift_Del_p.S251fs|SGSH_ENST00000534910.1_Frame_Shift_Del_p.Q36fs|SGSH_ENST00000572208.1_5'UTR	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	239					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGTGGTGTACTGAGCGGCCAG	0.706																																						ENST00000326317.6																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(715-717)cagfs		N-sulfoglucosamine sulfohydrolase							22.0	28.0	26.0					17																	78187632		2199	4296	6495	SO:0001589	frameshift_variant	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78187632delT	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.716delA	17.37:g.78187632delT	ENSP00000314606:p.Gln239fs					SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000570923.1_Frame_Shift_Del_p.S251fs|SGSH_ENST00000534910.1_Frame_Shift_Del_p.Q36fs	p.Q239fs	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		6	802	-	all_neural(118;0.0952)		239					A8K5E2	Frame_Shift_Del	DEL	ENST00000326317.6	37	c.716delA	CCDS11770.1																																																																																				0.706	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		2	4	2	4	---	---	---	---
