#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CAMTA1	23261	broad.mit.edu	37	1	7812556	7812556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:7812556C>T	ENST00000303635.7	+	21	5128	c.4921C>T	c.(4921-4923)Cga>Tga	p.R1641*	CAMTA1_ENST00000476864.1_Nonsense_Mutation_p.R205*|CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.R1627*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1641					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCAAGCTGCTCGAAAAATAAT	0.423			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2		NA		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					0				ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(4921-4923)CGA>TGA		calmodulin-binding transcription activator 1							81.0	73.0	76.0					1																	7812556		2203	4300	6503	SO:0001587	stop_gained	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7812556C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4921C>T	1.37:g.7812556C>T	ENSP00000306522:p.Arg1641*					CAMTA1_uc001aok.3_Nonsense_Mutation_p.R684*|CAMTA1_uc001aoj.2_Nonsense_Mutation_p.R604*|CAMTA1_uc009vmf.2_Nonsense_Mutation_p.R231*	p.R1641*	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	21	5128	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1641					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Nonsense_Mutation	SNP	ENST00000303635.7	37	c.4921C>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	C	36	5.835119	0.97003	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000476864	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8147	19.6665	0.95895	0.0:1.0:0.0:0.0	.	.	.	.	X	1641;1627;684;604;205	.	ENSP00000306522:R1641X	R	+	1	2	CAMTA1	7735143	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.571000	0.60879	2.614000	0.88457	0.655000	0.94253	CGA		0.423	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		11	11	0	0	0	0	11	11				
KIAA1522	57648	broad.mit.edu	37	1	33236052	33236052	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:33236052C>T	ENST00000373480.1	+	6	1198	c.1095C>T	c.(1093-1095)acC>acT	p.T365T	KIAA1522_ENST00000373481.3_Silent_p.T376T|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Silent_p.T424T	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	365	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCTCCGACACCATTGTGTCTG	0.652																																						uc001bvv.2		NA																	0					0						c.(1093-1095)ACC>ACT		hypothetical protein LOC57648							25.0	28.0	27.0					1																	33236052		2044	4183	6227	SO:0001819	synonymous_variant	57648							g.chr1:33236052C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1095C>T	1.37:g.33236052C>T						KIAA1522_uc001bvu.1_Silent_p.T424T|KIAA1522_uc010ohm.1_Silent_p.T376T|KIAA1522_uc010ohn.1_Intron	p.T365T	NM_020888	NP_065939	Q9P206	K1522_HUMAN			6	1231	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	365			Ser-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.1095C>T	CCDS55588.1																																																																																				0.652	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			12	17	0	0	0	0	12	17				
KIAA0754	643314	broad.mit.edu	37	1	39879079	39879079	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:39879079A>C	ENST00000530275.1	+	1	2929	c.2734A>C	c.(2734-2736)Acc>Ccc	p.T912P	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	912	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCAGTGCCCACCCCAGAGGA	0.726																																						uc009vvt.1		NA																	0					0						c.(3142-3144)ACC>CCC		hypothetical protein LOC643314							2.0	2.0	2.0					1																	39879079		1274	2978	4252	SO:0001583	missense	643314							g.chr1:39879079A>C			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2734A>C	1.37:g.39879079A>C	ENSP00000431179:p.Thr912Pro					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.T1048P	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	3904	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	912			Ala-rich.|3.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.3142A>C		.	.	.	.	.	.	.	.	.	.	A	11.35	1.613822	0.28712	.	.	ENSG00000255103	ENST00000530275	T	0.25085	1.82	3.48	-4.8	0.03190	.	.	.	.	.	T	0.21674	0.0522	L	0.32530	0.975	0.09310	N	1	P	0.52061	0.95	P	0.52424	0.698	T	0.09292	-1.0681	9	0.48119	T	0.1	.	3.2739	0.06892	0.4738:0.0:0.2487:0.2776	.	912	O94854	K0754_HUMAN	P	912	ENSP00000431179:T912P	ENSP00000431179:T912P	T	+	1	0	RP4-562N20.1	39651666	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.897000	0.04110	-1.085000	0.03088	0.254000	0.18369	ACC		0.726	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		2	5	0	0	0	0	2	5				
DYRK3	8444	broad.mit.edu	37	1	206822243	206822243	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:206822243C>G	ENST00000367109.2	+	3	1868	c.1700C>G	c.(1699-1701)gCt>gGt	p.A567G	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.A547G|DYRK3_ENST00000367108.3_Missense_Mutation_p.A547G	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	567					erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AAGCTTAAAGCTAACTTAATG	0.438																																					Melanoma(164;427 2622 26826 51707)	uc001hej.2		NA																	0				stomach(2)|central_nervous_system(1)	3						c.(1699-1701)GCT>GGT		dual-specificity tyrosine-(Y)-phosphorylation							97.0	89.0	92.0					1																	206822243		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206822243C>G	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1700C>G	1.37:g.206822243C>G	ENSP00000356076:p.Ala567Gly					DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.A547G	p.A567G	NM_003582	NP_003573	O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		3	1868	+	Breast(84;0.183)		567					D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.1700C>G	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562150	0.45590	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.70045	-0.45;-0.45;-0.45	5.44	4.53	0.55603	.	0.146603	0.64402	D	0.000008	T	0.63850	0.2546	L	0.44542	1.39	0.42457	D	0.992772	P;P	0.37352	0.456;0.591	B;B	0.43052	0.23;0.406	T	0.64997	-0.6275	10	0.42905	T	0.14	.	13.1612	0.59544	0.0:0.9239:0.0:0.076	.	567;547	O43781;O43781-2	DYRK3_HUMAN;.	G	567;547;547	ENSP00000356076:A567G;ENSP00000356075:A547G;ENSP00000356073:A547G	ENSP00000356073:A547G	A	+	2	0	DYRK3	204888866	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.725000	0.68507	1.527000	0.49086	0.650000	0.86243	GCT		0.438	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		24	41	0	0	0	0	24	41				
SPATA17	128153	broad.mit.edu	37	1	217955575	217955575	+	Silent	SNP	G	G	A	rs139943258	byFrequency	TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:217955575G>A	ENST00000366933.4	+	8	838	c.783G>A	c.(781-783)acG>acA	p.T261T	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	261						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TGGAGCCAACGTTGCGGGTGG	0.448													G|||	2	0.000399361	0.0	0.0	5008	,	,		14623	0.0		0.001	False		,,,				2504	0.001					uc001hlh.1		NA																	0				pancreas(1)	1						c.(781-783)ACG>ACA		spermatogenesis associated 17							96.0	98.0	97.0					1																	217955575		2203	4300	6503	SO:0001819	synonymous_variant	128153					cytoplasm	calmodulin binding	g.chr1:217955575G>A	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.783G>A	1.37:g.217955575G>A						SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Silent_p.T261T	p.T261T	NM_138796	NP_620151	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	8	809	+			261					A5D6N2	Silent	SNP	ENST00000366933.4	37	c.783G>A	CCDS1519.1																																																																																				0.448	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		20	39	0	0	0	0	20	39				
SNAP47	116841	broad.mit.edu	37	1	227968341	227968341	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:227968341C>T	ENST00000366759.4	+	5	1776	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D	SNAP47_ENST00000366760.1_Silent_p.D212D	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	454	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGACCATCGACAAGCACAACA	0.622																																						uc001hrf.2		NA																	0				ovary(1)	1						c.(1360-1362)GAC>GAT		synaptosomal-associated protein, 47kDa							136.0	106.0	116.0					1																	227968341		2203	4300	6503	SO:0001819	synonymous_variant	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227968341C>T	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1362C>T	1.37:g.227968341C>T						SNAP47_uc001hra.2_Silent_p.D212D	p.D454D	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN			5	1776	+			454			t-SNARE coiled-coil homology 2.		B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Silent	SNP	ENST00000366759.4	37	c.1362C>T	CCDS1562.1																																																																																				0.622	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		13	19	0	0	0	0	13	19				
C10orf55	414236	broad.mit.edu	37	10	75673068	75673068	+	Intron	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr10:75673068G>A	ENST00000409178.1	-	3	268				PLAU_ENST00000372764.3_Missense_Mutation_p.R130Q|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.R94Q|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000446342.1_Missense_Mutation_p.R113Q	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					AACCGGAGGCGACCCTGGTGC	0.572																																						uc001jwa.2		NA																	0				ovary(2)|kidney(1)	3						c.(388-390)CGA>CAA		plasminogen activator, urokinase isoform 1	Amiloride(DB00594)|Urokinase(DB00013)						113.0	114.0	113.0					10																	75673068		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673068G>A		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-235C>T	10.37:g.75673068G>A						C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Missense_Mutation_p.R113Q|PLAU_uc010qkx.1_Missense_Mutation_p.R44Q|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Missense_Mutation_p.R130Q|PLAU_uc009xrq.1_Missense_Mutation_p.R94Q	p.R130Q	NM_002658	NP_002649	P00749	UROK_HUMAN			6	535	+	Prostate(51;0.0112)		130			Kringle.		Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	c.389G>A	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396792	0.42512	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	T;T;T	0.63417	-0.04;-0.04;-0.04	5.47	0.264	0.15607	Kringle (5);Kringle-like fold (1);Kringle, conserved site (1);	0.609153	0.16615	N	0.206730	T	0.58308	0.2113	L	0.60455	1.87	0.09310	N	0.999997	B;B;P;B	0.49862	0.402;0.41;0.929;0.386	B;B;P;B	0.47044	0.147;0.227;0.535;0.149	T	0.51309	-0.8722	10	0.46703	T	0.11	.	7.7233	0.28744	0.4591:0.0:0.5409:0.0	.	113;94;130;130	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	Q	113;130;94;94	ENSP00000388474:R113Q;ENSP00000361850:R130Q;ENSP00000361848:R94Q	ENSP00000361847:R94Q	R	+	2	0	PLAU	75343074	0.015000	0.18098	0.018000	0.16275	0.333000	0.28666	-0.055000	0.11807	0.243000	0.21327	0.650000	0.86243	CGA		0.572	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		44	61	0	0	0	0	44	61				
GRK5	2869	broad.mit.edu	37	10	121156223	121156223	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr10:121156223C>T	ENST00000392870.2	+	4	607	c.278C>T	c.(277-279)aCt>aTt	p.T93I	GRK5_ENST00000369108.3_5'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	93	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TATGAAGTTACTCCAGATGAA	0.443																																						uc001led.2		NA																	0				lung(2)|stomach(1)	3						c.(277-279)ACT>ATT		G protein-coupled receptor kinase 5							106.0	109.0	108.0					10																	121156223		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121156223C>T	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.278C>T	10.37:g.121156223C>T	ENSP00000376609:p.Thr93Ile					GRK5_uc009xzh.2_5'UTR|GRK5_uc010qta.1_5'UTR	p.T93I	NM_005308	NP_005299	P34947	GRK5_HUMAN		all cancers(201;0.0227)	4	511	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	93			N-terminal.|RGS.		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.278C>T	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937455	0.73557	.	.	ENSG00000198873	ENST00000392870	T	0.02103	4.45	5.32	5.32	0.75619	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.124860	0.34291	U	0.004093	T	0.07954	0.0199	M	0.64404	1.975	0.80722	D	1	P	0.51351	0.944	P	0.51945	0.685	T	0.01549	-1.1327	10	0.87932	D	0	-1.0759	17.758	0.88455	0.0:1.0:0.0:0.0	.	93	P34947	GRK5_HUMAN	I	93	ENSP00000376609:T93I	ENSP00000376609:T93I	T	+	2	0	GRK5	121146213	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.449000	0.52950	2.477000	0.83638	0.591000	0.81541	ACT		0.443	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		31	36	0	0	0	0	31	36				
ADAM10	102	broad.mit.edu	37	15	58974499	58974499	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr15:58974499C>T	ENST00000260408.3	-	3	664	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	74					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CCTCTTCATTCGTAGGTTGAA	0.299																																						uc002afd.1		NA																	0				skin(2)	2						c.(220-222)CGA>CAA		ADAM metallopeptidase domain 10 precursor							75.0	76.0	76.0					15																	58974499		2192	4289	6481	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58974499C>T	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.221G>A	15.37:g.58974499C>T	ENSP00000260408:p.Arg74Gln					ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron|ADAM10_uc002afg.2_Missense_Mutation_p.R74Q	p.R74Q	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	3	665	-			74			Extracellular (Potential).		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.221G>A	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697421	0.88830	.	.	ENSG00000137845	ENST00000260408;ENST00000439637	T;T	0.06449	3.3;3.3	5.67	5.67	0.87782	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.13628	0.0330	M	0.66506	2.035	0.80722	D	1	P;P	0.42518	0.769;0.782	B;B	0.43386	0.322;0.418	T	0.02081	-1.1217	10	0.30854	T	0.27	-29.3089	19.7476	0.96257	0.0:1.0:0.0:0.0	.	74;74	A0AV88;O14672	.;ADA10_HUMAN	Q	74	ENSP00000260408:R74Q;ENSP00000391930:R74Q	ENSP00000260408:R74Q	R	-	2	0	ADAM10	56761791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.699000	0.68310	2.678000	0.91216	0.591000	0.81541	CGA		0.299	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		12	31	0	0	0	0	12	31				
TPSAB1	7177	broad.mit.edu	37	16	1292129	1292129	+	Missense_Mutation	SNP	C	C	T	rs528808259	byFrequency	TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr16:1292129C>T	ENST00000338844.3	+	6	749	c.716C>T	c.(715-717)gCg>gTg	p.A239V	TPSAB1_ENST00000461509.2_Missense_Mutation_p.A246V	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	239	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TGGCTGCAGGCGGGCGTGGTC	0.672													C|||	2	0.000399361	0.0	0.0	5008	,	,		7338	0.0		0.001	False		,,,				2504	0.001					uc002ckz.2		NA																	0					0						c.(715-717)GCG>GTG		tryptase alpha/beta 1 precursor							25.0	26.0	25.0					16																	1292129		2192	4265	6457	SO:0001583	missense	7177				defense response|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr16:1292129C>T	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.716C>T	16.37:g.1292129C>T	ENSP00000343577:p.Ala239Val					TPSAB1_uc010uux.1_Missense_Mutation_p.A175V	p.A239V	NM_003294	NP_003285	Q15661	TRYB1_HUMAN			6	768	+		Hepatocellular(780;0.00369)	239			Peptidase S1.		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	ENST00000338844.3	37	c.716C>T	CCDS10431.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.655322	0.00779	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.87029	-2.2;-2.2	3.08	2.12	0.27331	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.162599	0.28964	N	0.013571	T	0.50069	0.1594	N	0.00788	-1.185	0.37221	D	0.905264	P;P	0.52692	0.944;0.955	B;B	0.32342	0.089;0.144	T	0.64960	-0.6284	10	0.06365	T	0.9	.	5.3673	0.16121	0.0:0.7292:0.0:0.2707	.	230;239	Q15661-2;Q15661	.;TRYB1_HUMAN	V	239;246	ENSP00000343577:A239V;ENSP00000418247:A246V	ENSP00000343577:A239V	A	+	2	0	TPSAB1	1232130	0.119000	0.22226	0.391000	0.26233	0.044000	0.14063	0.634000	0.24614	0.653000	0.30826	0.184000	0.17185	GCG		0.672	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		8	26	0	0	0	0	8	26				
CREBBP	1387	broad.mit.edu	37	16	3828020	3828020	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr16:3828020C>G	ENST00000262367.5	-	10	2914	c.2105G>C	c.(2104-2106)aGa>aCa	p.R702T	CREBBP_ENST00000382070.3_Missense_Mutation_p.R664T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	702					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACTTGGAGGTCTCACAGGTTG	0.502			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(2104-2106)AGA>ACA		CREB binding protein isoform a							96.0	109.0	105.0					16																	3828020		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3828020C>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2105G>C	16.37:g.3828020C>G	ENSP00000262367:p.Arg702Thr					CREBBP_uc002cvw.2_Missense_Mutation_p.R664T	p.R702T	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	10	2309	-		Ovarian(90;0.0266)	702					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.2105G>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594909	0.66219	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83673	-1.75;-1.68	5.61	5.61	0.85477	.	0.138532	0.48286	D	0.000188	D	0.89308	0.6678	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.985;0.994	D	0.85050	0.0928	10	0.20519	T	0.43	-17.5051	19.9989	0.97403	0.0:1.0:0.0:0.0	.	732;702	Q4LE28;Q92793	.;CBP_HUMAN	T	702;732;664	ENSP00000262367:R702T;ENSP00000371502:R664T	ENSP00000262367:R702T	R	-	2	0	CREBBP	3768021	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	7.320000	0.79064	2.805000	0.96524	0.460000	0.39030	AGA		0.502	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		30	131	0	0	0	0	30	131				
DRC7	84229	broad.mit.edu	37	16	57734141	57734141	+	Missense_Mutation	SNP	G	G	A	rs201048078		TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr16:57734141G>A	ENST00000360716.3	+	5	684	c.463G>A	c.(463-465)Gac>Aac	p.D155N	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Missense_Mutation_p.D155N|CCDC135_ENST00000336825.8_Missense_Mutation_p.D155N			Q8IY82	CC135_HUMAN		155					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GTTTGTCTCCGACTTCCTCAC	0.582													g|||	1	0.000199681	0.0	0.0	5008	,	,		15495	0.0		0.001	False		,,,				2504	0.0					uc002emi.2		NA																	0				central_nervous_system(1)	1						c.(463-465)GAC>AAC		coiled-coil domain containing 135							105.0	93.0	97.0					16																	57734141		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57734141G>A																												ENST00000360716.3:c.463G>A	16.37:g.57734141G>A	ENSP00000353942:p.Asp155Asn					CCDC135_uc002emj.2_Missense_Mutation_p.D155N|CCDC135_uc002emk.2_Missense_Mutation_p.D155N	p.D155N	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			4	552	+			155					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.463G>A	CCDS10787.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.83	3.486325	0.63962	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.76709	-1.04;-1.04;-1.04	5.25	5.25	0.73442	.	0.100168	0.64402	D	0.000003	T	0.76169	0.3950	M	0.61703	1.905	0.58432	D	0.999994	P;P	0.44090	0.487;0.826	B;B	0.41946	0.098;0.371	T	0.73946	-0.3822	10	0.17369	T	0.5	-45.7065	17.8304	0.88680	0.0:0.0:1.0:0.0	.	155;155	Q8IY82-2;Q8IY82	.;CC135_HUMAN	N	155	ENSP00000377869:D155N;ENSP00000338938:D155N;ENSP00000353942:D155N	ENSP00000338938:D155N	D	+	1	0	CCDC135	56291642	1.000000	0.71417	0.982000	0.44146	0.966000	0.64601	5.363000	0.66104	2.436000	0.82500	0.453000	0.30009	GAC		0.582	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			29	89	0	0	0	0	29	89				
MYH13	8735	broad.mit.edu	37	17	10204957	10204957	+	Missense_Mutation	SNP	C	C	T	rs572120351		TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr17:10204957C>T	ENST00000418404.3	-	39	5894	c.5731G>A	c.(5731-5733)Gcg>Acg	p.A1911T	MYH13_ENST00000252172.4_Missense_Mutation_p.A1911T|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1911					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCCTCTCCGCGGCCTCCTCT	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17713	0.001		0.0	False		,,,				2504	0.0					uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(5731-5733)GCG>ACG		myosin, heavy polypeptide 13, skeletal muscle							70.0	76.0	74.0					17																	10204957		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10204957C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5731G>A	17.37:g.10204957C>T	ENSP00000404570:p.Ala1911Thr						p.A1911T	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			40	5821	-			1911			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5731G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683278	0.29872	.	.	ENSG00000006788	ENST00000252172	T	0.77489	-1.1	3.76	3.76	0.43208	Myosin tail (1);	.	.	.	.	T	0.51024	0.1650	N	0.00841	-1.15	0.23776	N	0.996871	B	0.09022	0.002	B	0.10450	0.005	T	0.50767	-0.8789	9	0.87932	D	0	.	11.8189	0.52226	0.0:0.9098:0.0:0.0902	.	1911	Q9UKX3	MYH13_HUMAN	T	1911	ENSP00000252172:A1911T	ENSP00000252172:A1911T	A	-	1	0	MYH13	10145682	0.766000	0.28496	0.838000	0.33150	0.287000	0.27160	1.498000	0.35660	2.097000	0.63578	0.484000	0.47621	GCG		0.622	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		36	61	0	0	0	0	36	61				
SALL3	27164	broad.mit.edu	37	18	76754998	76754998	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr18:76754998C>T	ENST00000537592.2	+	2	3007	c.3007C>T	c.(3007-3009)Cgg>Tgg	p.R1003W	SALL3_ENST00000536229.3_Intron|SALL3_ENST00000575389.2_Intron	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1003					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TACTAAGGAGCGGCCATTCGT	0.537																																						uc002lmt.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3007-3009)CGG>TGG		sal-like 3							65.0	66.0	65.0					18																	76754998		2202	4300	6502	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754998C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3007C>T	18.37:g.76754998C>T	ENSP00000441823:p.Arg1003Trp					SALL3_uc010dra.2_Intron	p.R1003W	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	3007	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1003					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.3007C>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750940	0.31046	.	.	ENSG00000256463	ENST00000537592	T	0.20332	2.08	5.18	4.3	0.51218	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000309	T	0.57975	0.2090	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.73379	-0.4001	10	0.87932	D	0	-31.7798	15.2772	0.73750	0.1408:0.8592:0.0:0.0	.	1003	Q9BXA9	SALL3_HUMAN	W	1003	ENSP00000441823:R1003W	ENSP00000299466:R1003W	R	+	1	2	SALL3	74855986	1.000000	0.71417	0.915000	0.36163	0.194000	0.23727	2.432000	0.44784	1.149000	0.42402	0.561000	0.74099	CGG		0.537	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		14	37	0	0	0	0	14	37				
FCAR	2204	broad.mit.edu	37	19	55396849	55396849	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr19:55396849C>T	ENST00000355524.3	+	3	283	c.273C>T	c.(271-273)gaC>gaT	p.D91D	FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Silent_p.D91D|FCAR_ENST00000391725.3_Silent_p.D91D|FCAR_ENST00000391724.3_Silent_p.D79D|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391726.3_Silent_p.D79D|FCAR_ENST00000359272.4_Silent_p.D79D|FCAR_ENST00000391723.3_Silent_p.D79D|FCAR_ENST00000469767.1_Silent_p.D91D	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	91	Ig-like C2-type 1.				immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		ACCACATGGACGCAAACAAGG	0.483																																						uc002qhr.1		NA																	0				ovary(1)|skin(1)	2						c.(271-273)GAC>GAT		Fc alpha receptor isoform a precursor							110.0	96.0	101.0					19																	55396849		2203	4300	6503	SO:0001819	synonymous_variant	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55396849C>T	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.273C>T	19.37:g.55396849C>T						FCAR_uc002qhq.2_Silent_p.D91D|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Silent_p.D64D|FCAR_uc010esi.1_Silent_p.D64D|FCAR_uc002qhu.1_Silent_p.D91D|FCAR_uc002qhv.1_Silent_p.D91D|FCAR_uc002qhw.1_Silent_p.D79D|FCAR_uc002qhx.1_Silent_p.D79D|FCAR_uc002qhy.1_Silent_p.D79D|FCAR_uc002qhz.1_Silent_p.D79D|FCAR_uc002qia.1_Intron	p.D91D	NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	3	470	+			91			Extracellular (Potential).|Ig-like C2-type 1.		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Silent	SNP	ENST00000355524.3	37	c.273C>T	CCDS12907.1																																																																																				0.483	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		14	35	0	0	0	0	14	35				
ATAD2B	54454	broad.mit.edu	37	2	24111244	24111244	+	Silent	SNP	A	A	G			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr2:24111244A>G	ENST00000238789.5	-	3	737	c.394T>C	c.(394-396)Tta>Cta	p.L132L		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	132						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTTGGTAATGTAGCACCA	0.313																																						uc002rek.3		NA																	0				central_nervous_system(1)	1						c.(394-396)TTA>CTA		ATPase family, AAA domain containing 2B							33.0	32.0	32.0					2																	24111244		1836	4090	5926	SO:0001819	synonymous_variant	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24111244A>G	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.394T>C	2.37:g.24111244A>G						ATAD2B_uc010yki.1_RNA|ATAD2B_uc010exx.1_Silent_p.L132L	p.L132L	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			3	688	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		132					B9ZVQ5|Q6ZNA6|Q8N9E7	Silent	SNP	ENST00000238789.5	37	c.394T>C	CCDS46227.1																																																																																				0.313	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		2	13	0	0	0	0	2	13				
SOS1	6654	broad.mit.edu	37	2	39283893	39283893	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr2:39283893G>A	ENST00000426016.1	-	5	546	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	SOS1_ENST00000428721.2_Missense_Mutation_p.H97Y|SOS1_ENST00000402219.2_Missense_Mutation_p.H154Y|SOS1_ENST00000395038.2_Missense_Mutation_p.H154Y			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	154					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATTTCATAATGCCGTATATTT	0.313									Noonan syndrome																													uc002rrk.3		NA																	0				ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(460-462)CAT>TAT		son of sevenless homolog 1							162.0	179.0	174.0					2																	39283893		2203	4299	6502	SO:0001583	missense	6654	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	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39283893G>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.460C>T	2.37:g.39283893G>A	ENSP00000387784:p.His154Tyr					SOS1_uc010ynr.1_RNA	p.H154Y	NM_005633	NP_005624	Q07889	SOS1_HUMAN			4	501	-		all_hematologic(82;0.21)	154					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.460C>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183012	0.94885	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721;ENST00000451331	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.94	5.94	0.96194	Histone-fold (2);Histone core (1);	0.103731	0.64402	D	0.000004	D	0.83533	0.5275	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84202	0.0451	10	0.87932	D	0	.	20.3552	0.98837	0.0:0.0:1.0:0.0	.	154	Q07889	SOS1_HUMAN	Y	154;154;154;154;97;97	ENSP00000387784:H154Y;ENSP00000384675:H154Y;ENSP00000378479:H154Y;ENSP00000399992:H97Y;ENSP00000393899:H97Y	ENSP00000263879:H154Y	H	-	1	0	SOS1	39137397	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.731000	0.98807	2.812000	0.96745	0.557000	0.71058	CAT		0.313	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		68	133	0	0	0	0	68	133				
DQX1	165545	broad.mit.edu	37	2	74746713	74746713	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr2:74746713C>T	ENST00000404568.3	-	10	1995	c.1776G>A	c.(1774-1776)caG>caA	p.Q592Q	DQX1_ENST00000393951.2_Silent_p.Q592Q	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	592						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CCAGTGCTTTCTGAAGGTCTC	0.483																																						uc010yrw.1		NA																	0				ovary(2)	2						c.(1774-1776)CAG>CAA		DEAQ box polypeptide 1 (RNA-dependent ATPase)							134.0	135.0	135.0					2																	74746713		2203	4300	6503	SO:0001819	synonymous_variant	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74746713C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1776G>A	2.37:g.74746713C>T						DQX1_uc002smc.2_Silent_p.Q153Q	p.Q592Q	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN			10	1941	-			592					Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	c.1776G>A	CCDS1949.2																																																																																				0.483	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		42	68	0	0	0	0	42	68				
OBSL1	23363	broad.mit.edu	37	2	220432968	220432968	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr2:220432968A>C	ENST00000404537.1	-	2	1147	c.1091T>G	c.(1090-1092)gTa>gGa	p.V364G	OBSL1_ENST00000373873.4_Missense_Mutation_p.V364G|OBSL1_ENST00000289656.3_5'UTR|OBSL1_ENST00000373876.1_Missense_Mutation_p.V364G|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_Missense_Mutation_p.V364G|OBSL1_ENST00000603926.1_Missense_Mutation_p.V364G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	364	Ig-like 4.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGAGTTGGGTACTTTACATTC	0.662											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc010fwk.2		NA																	0					0						c.(1090-1092)GTA>GGA		obscurin-like 1							28.0	34.0	32.0					2																	220432968		1974	4142	6116	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220432968A>C	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1091T>G	2.37:g.220432968A>C	ENSP00000385636:p.Val364Gly		OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2266	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.V364G|OBSL1_uc002vmj.2_5'UTR	p.V364G	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	2	1148	-		Renal(207;0.0376)	364			Ig-like 4.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.1091T>G	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.491286	0.84962	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.17	5.17	0.71159	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86863	0.6035	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88974	0.3403	9	0.87932	D	0	.	15.1702	0.72865	1.0:0.0:0.0:0.0	.	364;364	O75147;O75147-2	OBSL1_HUMAN;.	G	364	ENSP00000265318:V364G;ENSP00000385636:V364G;ENSP00000362983:V364G;ENSP00000362980:V364G	ENSP00000265318:V364G	V	-	2	0	OBSL1	220141212	1.000000	0.71417	0.950000	0.38849	0.999000	0.98932	8.887000	0.92456	2.175000	0.68902	0.528000	0.53228	GTA		0.662	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			9	15	0	0	0	0	9	15				
SUN5	140732	broad.mit.edu	37	20	31571672	31571672	+	Silent	SNP	G	G	A	rs572445773	byFrequency	TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr20:31571672G>A	ENST00000356173.3	-	13	1160	c.1068C>T	c.(1066-1068)cgC>cgT	p.R356R	SUN5_ENST00000375523.3_Silent_p.R331R	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	356	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GCACTCGCACGCGGTACAGGC	0.562													G|||	3	0.000599042	0.0	0.0	5008	,	,		17721	0.003		0.0	False		,,,				2504	0.0					uc002wyi.2		NA																	0				skin(1)	1						c.(1066-1068)CGC>CGT		sperm associated antigen 4-like							84.0	92.0	89.0					20																	31571672		2203	4300	6503	SO:0001819	synonymous_variant	140732				spermatogenesis			g.chr20:31571672G>A	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.1068C>T	20.37:g.31571672G>A							p.R356R	NM_080675	NP_542406	Q8TC36	SUN5_HUMAN			13	1161	-			356			SUN.		A6NJ82|Q5T9R0	Silent	SNP	ENST00000356173.3	37	c.1068C>T	CCDS13209.1																																																																																				0.562	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		40	75	0	0	0	0	40	75				
ZCCHC4	29063	broad.mit.edu	37	4	25363860	25363860	+	Silent	SNP	G	G	A	rs200446605		TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr4:25363860G>A	ENST00000302874.4	+	10	1170	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	382			P -> L (in dbSNP:rs3752873).				methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TTTGCTCTCCGTGTCAACGGT	0.338																																						uc003grl.3		NA																	0				ovary(2)	2						c.(1144-1146)CCG>CCA		zinc finger, CCHC domain containing 4		G		0,3696		0,0,1848	119.0	110.0	113.0		1146	0.0	0.1	4		113	1,8183		0,1,4091	no	coding-synonymous	ZCCHC4	NM_024936.2		0,1,5939	AA,AG,GG		0.0122,0.0,0.0084		382/514	25363860	1,11879	1848	4092	5940	SO:0001819	synonymous_variant	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25363860G>A	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.1146G>A	4.37:g.25363860G>A						ZCCHC4_uc003grn.3_Silent_p.P148P	p.P382P	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN			10	1182	+		Breast(46;0.0503)	382					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Silent	SNP	ENST00000302874.4	37	c.1146G>A	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.314221	0.01331	0.0	1.22E-4	ENSG00000168228	ENST00000505412	.	.	.	5.92	0.0445	0.14226	.	.	.	.	.	T	0.68833	0.3044	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66500	-0.5908	4	.	.	.	-1.5916	16.3133	0.82905	0.0:0.6543:0.2386:0.1071	.	.	.	.	M	247	.	.	V	+	1	0	ZCCHC4	24972958	0.032000	0.19561	0.105000	0.21289	0.017000	0.09413	-0.426000	0.07008	-0.335000	0.08451	-1.797000	0.00622	GTG		0.338	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			10	23	0	0	0	0	10	23				
GFPT2	9945	broad.mit.edu	37	5	179765551	179765551	+	Silent	SNP	G	G	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr5:179765551G>T	ENST00000253778.8	-	2	226	c.57C>A	c.(55-57)atC>atA	p.I19I		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	19	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GGGTTTCGAAGATCTCCTTCC	0.557																																						uc003mlw.1		NA																	0				ovary(1)|skin(1)	2						c.(55-57)ATC>ATA		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						43.0	49.0	47.0					5																	179765551		1970	4155	6125	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179765551G>T	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.57C>A	5.37:g.179765551G>T							p.I19I	NM_005110	NP_005101	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	155	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	19			Glutamine amidotransferase type-2.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.57C>A	CCDS43411.1																																																																																				0.557	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		16	18	1	0	8.6e-14	9.38e-14	16	18				
SKIV2L	6499	broad.mit.edu	37	6	31930806	31930806	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr6:31930806C>T	ENST00000375394.2	+	13	1454	c.1341C>T	c.(1339-1341)caC>caT	p.H447H	SKIV2L_ENST00000544581.1_Silent_p.H254H	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	447	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TACCTGACCACGTTTCTATCA	0.617																																						uc003nyn.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(1339-1341)CAC>CAT		superkiller viralicidic activity 2-like homolog							128.0	97.0	108.0					6																	31930806		1511	2708	4219	SO:0001819	synonymous_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31930806C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1341C>T	6.37:g.31930806C>T						SKIV2L_uc011dou.1_Silent_p.H289H|SKIV2L_uc011dov.1_Silent_p.H254H	p.H447H	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			13	1730	+			447			Helicase ATP-binding.		O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	c.1341C>T	CCDS4731.1																																																																																				0.617	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			17	30	0	0	0	0	17	30				
Unknown	0	broad.mit.edu	37	7	63680365	63680365	+	IGR	SNP	C	C	G			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:63680365C>G								GUSBP6 (69266 upstream) : ZNF679 (8486 downstream)																							CCTCAGCCCTCATTTACCACA	0.433																																						uc011kdn.1		NA																	0					0						c.(934-936)CTC>CTG		zinc finger protein 735							20.0	21.0	21.0					7																	63680365		692	1591	2283	SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63680365C>G																													7.37:g.63680365C>G							p.L312L	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			4	936	+			312			C2H2-type 6.			Silent	SNP		37	c.936C>G																																																																																				0	0.433									35	13	0	0	0	0	35	13				
TRRAP	8295	broad.mit.edu	37	7	98547146	98547146	+	Missense_Mutation	SNP	G	G	A	rs3735363	byFrequency	TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:98547146G>A	ENST00000359863.4	+	35	5083	c.4874G>A	c.(4873-4875)cGc>cAc	p.R1625H	TRRAP_ENST00000355540.3_Missense_Mutation_p.R1607H|TRRAP_ENST00000446306.3_Missense_Mutation_p.R1606H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1625					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R1607H(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACGGCTGTGCGCCCCGGTTCG	0.637																																						uc003upp.2		NA																	1	Substitution - Missense(1)	p.R1607H(1)	upper_aerodigestive_tract(1)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(4873-4875)CGC>CAC		transformation/transcription domain-associated																																				SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98547146G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4874G>A	7.37:g.98547146G>A	ENSP00000352925:p.Arg1625His					TRRAP_uc011kis.1_Missense_Mutation_p.R1607H|TRRAP_uc003upr.2_Missense_Mutation_p.R1324H	p.R1625H	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		35	5083	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1625					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.4874G>A	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.10|13.10	2.135105|2.135105	0.37728|0.37728	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.03124	.|4.05;4.04	5.97|5.97	5.09|5.09	0.68999|0.68999	.|.	.|0.053902	.|0.64402	.|N	.|0.000002	T|T	0.05914|0.05914	0.0154|0.0154	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.65815	.|0.995;0.0;0.0	.|P;B;B	.|0.50708	.|0.648;0.0;0.0	T|T	0.50311|0.50311	-0.8843|-0.8843	5|10	.|0.42905	.|T	.|0.14	.|.	15.115|15.115	0.72394|0.72394	0.0678:0.0:0.9322:0.0|0.0678:0.0:0.9322:0.0	.|.	.|1607;1346;1625	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	T|H	1347|1625;1607;1605	.|ENSP00000352925:R1625H;ENSP00000347733:R1607H	.|ENSP00000347733:R1607H	A|R	+|+	1|2	0|0	TRRAP|TRRAP	98385082|98385082	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.043000|0.043000	0.13939|0.13939	9.863000|9.863000	0.99569|0.99569	1.528000|1.528000	0.49103|0.49103	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.637	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		21	34	0	0	0	0	21	34				
SERPINE1	5054	broad.mit.edu	37	7	100779013	100779013	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:100779013G>A	ENST00000223095.4	+	7	1175	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	SERPINE1_ENST00000445463.2_Missense_Mutation_p.V325I	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	340					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V340I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCCTCTCCACGTCGCGCAGGC	0.582																																						uc003uxt.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1018-1020)GTC>ATC		plasminogen activator inhibitor-1 isoform 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						88.0	82.0	84.0					7																	100779013		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100779013G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1018G>A	7.37:g.100779013G>A	ENSP00000223095:p.Val340Ile					SERPINE1_uc011kkj.1_Missense_Mutation_p.V325I|SERPINE1_uc003uxu.1_3'UTR	p.V340I	NM_000602	NP_000593	P05121	PAI1_HUMAN			7	1166	+	Lung NSC(181;0.136)|all_lung(186;0.182)		340					B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.1018G>A	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572893	0.65765	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	D;D	0.85411	-1.98;-1.98	5.53	5.53	0.82687	Serpin domain (3);	0.000000	0.64402	D	0.000001	D	0.85487	0.5708	L	0.46614	1.455	0.80722	D	1	P;P	0.44195	0.793;0.828	B;P	0.48840	0.434;0.592	T	0.83257	-0.0050	10	0.28530	T	0.3	.	16.9514	0.86246	0.0:0.0:1.0:0.0	.	325;340	F8WD53;P05121	.;PAI1_HUMAN	I	340;325;117	ENSP00000223095:V340I;ENSP00000396766:V325I	ENSP00000223095:V340I	V	+	1	0	SERPINE1	100565733	0.998000	0.40836	0.071000	0.20095	0.161000	0.22273	2.733000	0.47360	2.588000	0.87417	0.561000	0.74099	GTC		0.582	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		16	58	0	0	0	0	16	58				
CNTNAP2	26047	broad.mit.edu	37	7	146741040	146741040	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:146741040C>T	ENST00000361727.3	+	4	960	c.444C>T	c.(442-444)caC>caT	p.H148H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	148	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.H148H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGTCCGGCACGAATTACAGC	0.423										HNSCC(39;0.1)																												uc003weu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(442-444)CAC>CAT		cell recognition molecule Caspr2 precursor							172.0	148.0	156.0					7																	146741040		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146741040C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.444C>T	7.37:g.146741040C>T		HNSCC(39;0.1)					p.H148H	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		4	960	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	148			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.444C>T	CCDS5889.1																																																																																				0.423	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			29	88	0	0	0	0	29	88				
ZNF862	643641	broad.mit.edu	37	7	149545305	149545305	+	Silent	SNP	A	A	C			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:149545305A>C	ENST00000223210.4	+	4	968	c.723A>C	c.(721-723)atA>atC	p.I241I		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	241					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)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						ATTGCCCCATATTCTACCCCC	0.607																																						uc010lpn.2		NA																	0				skin(1)	1						c.(721-723)ATA>ATC		zinc finger protein 862							25.0	27.0	26.0					7																	149545305		1861	4104	5965	SO:0001819	synonymous_variant	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149545305A>C	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.723A>C	7.37:g.149545305A>C						ZNF862_uc003wgm.2_RNA	p.I241I	NM_001099220	NP_001092690	O60290	ZN862_HUMAN			4	915	+			241					A0AUL8	Silent	SNP	ENST00000223210.4	37	c.723A>C	CCDS47741.1																																																																																				0.607	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		8	14	0	0	0	0	8	14				
DLC1	10395	broad.mit.edu	37	8	12950234	12950234	+	Silent	SNP	G	G	A	rs142586910		TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr8:12950234G>A	ENST00000276297.4	-	13	4036	c.3627C>T	c.(3625-3627)agC>agT	p.S1209S	DLC1_ENST00000512044.2_Silent_p.S806S|DLC1_ENST00000358919.2_Silent_p.S772S|DLC1_ENST00000520226.1_Silent_p.S698S|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1209	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.		S -> C (in dbSNP:rs1044094). {ECO:0000269|PubMed:10649492, ECO:0000269|PubMed:9605766}.		actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTGTGACATCGCTCAGGAAAT	0.562																																						uc003wwm.2		NA																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(3625-3627)AGC>AGT		deleted in liver cancer 1 isoform 1		G	,,	0,4406		0,0,2203	94.0	80.0	85.0		2094,2316,3627	0.1	1.0	8	dbSNP_134	85	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,	698/1018,772/1092,1209/1529	12950234	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12950234G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3627C>T	8.37:g.12950234G>A						DLC1_uc003wwk.1_Silent_p.S772S|DLC1_uc003wwl.1_Silent_p.S806S|DLC1_uc011kxx.1_Silent_p.S698S	p.S1209S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			13	4071	-			1209			Rho-GAP.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.3627C>T	CCDS5989.1																																																																																				0.562	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		10	18	0	0	0	0	10	18				
MROH6	642475	broad.mit.edu	37	8	144652142	144652142	+	Silent	SNP	C	C	T	rs368637582		TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr8:144652142C>T	ENST00000398882.3	-	7	1393	c.1137G>A	c.(1135-1137)acG>acA	p.T379T	MROH6_ENST00000533679.1_5'Flank|MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000534459.1_5'Flank|MROH6_ENST00000524906.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	379	Leu-rich.							p.T379T(2)									AGGCCATAGCCGTGAGACGCT	0.657																																						uc010mff.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1135-1137)ACG>ACA		hypothetical protein LOC642475							46.0	58.0	54.0					8																	144652142		2118	4228	6346	SO:0001819	synonymous_variant	642475						binding	g.chr8:144652142C>T	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1137G>A	8.37:g.144652142C>T						C8orf73_uc010mfg.1_Missense_Mutation_p.G392S	p.T379T	NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		7	1181	-	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		379			Leu-rich.		A8MWB1	Silent	SNP	ENST00000398882.3	37	c.1137G>A	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	c	12.39	1.924625	0.34002	.	.	ENSG00000204839	ENST00000529971	T	0.35236	1.32	5.23	-10.5	0.00291	.	.	.	.	.	T	0.23532	0.0569	.	.	.	0.41168	D	0.986143	B	0.19706	0.038	B	0.15052	0.012	T	0.21415	-1.0246	8	0.87932	D	0	-48.7274	11.3296	0.49468	0.0:0.103:0.4256:0.4714	.	392	E9PPP7	.	S	392	ENSP00000436959:G392S	ENSP00000436959:G392S	G	-	1	0	C8orf73	144723285	0.000000	0.05858	0.341000	0.25589	0.845000	0.48019	-3.973000	0.00322	-1.975000	0.00997	-0.273000	0.10243	GGC		0.657	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		12	26	0	0	0	0	12	26				
SPIN1	10927	broad.mit.edu	37	9	91041469	91041469	+	Silent	SNP	C	C	T	rs201369257		TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr9:91041469C>T	ENST00000375859.3	+	2	293	c.15C>T	c.(13-15)ttC>ttT	p.F5F	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Silent_p.F5F	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	5					chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						AGACCCCATTCGGAAAGACAC	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		15804	0.0		0.001	False		,,,				2504	0.0					uc010mqj.2		NA																	0					0						c.(13-15)TTC>TTT		spindlin		C		0,3660		0,0,1830	33.0	35.0	34.0		15	0.4	1.0	9		34	2,8150		0,2,4074	no	coding-synonymous	SPIN1	NM_006717.2		0,2,5904	TT,TC,CC		0.0245,0.0,0.0169		5/263	91041469	2,11810	1830	4076	5906	SO:0001819	synonymous_variant	10927				cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding	g.chr9:91041469C>T	AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"""spindlin"""	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.15C>T	9.37:g.91041469C>T						SPIN1_uc004apy.2_Silent_p.F5F|SPIN1_uc004apz.2_Silent_p.F5F|SPIN1_uc010mqk.2_Silent_p.F5F	p.F5F	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN			2	515	+			5					A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Silent	SNP	ENST00000375859.3	37	c.15C>T	CCDS43843.1																																																																																				0.388	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	NM_006717		11	23	0	0	0	0	11	23				
FAM47A	158724	broad.mit.edu	37	X	34150181	34150181	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:34150181C>T	ENST00000346193.3	-	1	266	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	72								p.R72H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTCGTCACGGCGACAAACGAG	0.537																																						uc004ddg.2		NA																	1	Substitution - Missense(1)	p.R72H(1)	ovary(1)	ovary(4)|central_nervous_system(1)	5						c.(214-216)CGC>CAC		hypothetical protein LOC158724							89.0	84.0	86.0					X																	34150181		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150181C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.215G>A	X.37:g.34150181C>T	ENSP00000345029:p.Arg72His						p.R72H	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	248	-			72					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.215G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	3.358	-0.131099	0.06753	.	.	ENSG00000185448	ENST00000346193	T	0.21191	2.02	1.17	1.17	0.20885	.	.	.	.	.	T	0.13415	0.0325	L	0.57536	1.79	0.09310	N	1	P	0.38280	0.625	B	0.24974	0.057	T	0.18023	-1.0350	9	0.14252	T	0.57	.	5.3637	0.16101	0.0:1.0:0.0:0.0	.	72	Q5JRC9	FA47A_HUMAN	H	72	ENSP00000345029:R72H	ENSP00000345029:R72H	R	-	2	0	FAM47A	34060102	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.184000	0.09698	0.880000	0.35969	0.544000	0.68410	CGC		0.537	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		28	58	0	0	0	0	28	58				
FAM47A	158724	broad.mit.edu	37	X	34150220	34150220	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:34150220C>T	ENST00000346193.3	-	1	227	c.176G>A	c.(175-177)cGc>cAc	p.R59H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	59										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACAGCCGTAGCGGAAGTCGTC	0.557																																						uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(175-177)CGC>CAC		hypothetical protein LOC158724							77.0	75.0	76.0					X																	34150220		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150220C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.176G>A	X.37:g.34150220C>T	ENSP00000345029:p.Arg59His						p.R59H	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	209	-			59					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.176G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107374	0.37145	.	.	ENSG00000185448	ENST00000346193	T	0.21191	2.02	1.17	1.17	0.20885	.	.	.	.	.	T	0.19087	0.0458	L	0.53617	1.68	0.09310	N	1	P	0.49253	0.921	B	0.42163	0.378	T	0.15235	-1.0444	9	0.59425	D	0.04	.	5.3637	0.16101	0.0:1.0:0.0:0.0	.	59	Q5JRC9	FA47A_HUMAN	H	59	ENSP00000345029:R59H	ENSP00000345029:R59H	R	-	2	0	FAM47A	34060141	0.001000	0.12720	0.006000	0.13384	0.008000	0.06430	0.162000	0.16501	0.880000	0.35969	0.544000	0.68410	CGC		0.557	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		32	47	0	0	0	0	32	47				
MED12	9968	broad.mit.edu	37	X	70347218	70347218	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:70347218G>A	ENST00000374080.3	+	21	2914	c.2882G>A	c.(2881-2883)cGg>cAg	p.R961Q	MED12_ENST00000462984.1_3'UTR|MED12_ENST00000374102.1_Missense_Mutation_p.R961Q|MED12_ENST00000333646.6_Missense_Mutation_p.R961Q			Q93074	MED12_HUMAN	mediator complex subunit 12	961			R -> W (in OKS). {ECO:0000269|PubMed:17334363}.		androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGATGAACCGGTCCGATGGC	0.522			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2881-2883)CGG>CAG		mediator complex subunit 12							82.0	81.0	82.0					X																	70347218		2068	4171	6239	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70347218G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2882G>A	X.37:g.70347218G>A	ENSP00000363193:p.Arg961Gln					MED12_uc011mpq.1_Missense_Mutation_p.R961Q|MED12_uc004dyz.2_Missense_Mutation_p.R961Q|MED12_uc004dza.2_Missense_Mutation_p.R808Q|MED12_uc010nla.2_5'Flank	p.R961Q	NM_005120	NP_005111	Q93074	MED12_HUMAN			21	3081	+	Renal(35;0.156)		961		R -> W (in OKS).			O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.2882G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	27.2	4.808695	0.90707	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.0	5.0	0.66597	.	0.067470	0.64402	D	0.000010	T	0.69450	0.3112	N	0.22421	0.69	0.49687	D	0.999815	P;D;D;D	0.57257	0.891;0.979;0.979;0.961	B;B;B;B	0.43445	0.41;0.182;0.403;0.42	T	0.75505	-0.3294	10	0.62326	D	0.03	-20.8211	17.5016	0.87733	0.0:0.0:1.0:0.0	.	961;808;961;961	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Q	961;961;961;961;929	ENSP00000333125:R961Q;ENSP00000363215:R961Q;ENSP00000363193:R961Q;ENSP00000414203:R929Q	ENSP00000333125:R961Q	R	+	2	0	MED12	70263943	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	4.072000	0.57563	2.316000	0.78162	0.529000	0.55759	CGG		0.522	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		10	23	0	0	0	0	10	23				
TENM1	10178	broad.mit.edu	37	X	123538975	123538975	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:123538975G>A	ENST00000371130.3	-	26	5339	c.5276C>T	c.(5275-5277)tCa>tTa	p.S1759L	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.S1766L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1759					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S1761L(1)									TCCGGGCAATGAGATGTTGCA	0.562																																						uc004euj.2		NA																	1	Substitution - Missense(1)		cervix(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(5275-5277)TCA>TTA		odz, odd Oz/ten-m homolog 1 isoform 3							144.0	118.0	127.0					X																	123538975		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123538975G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5276C>T	X.37:g.123538975G>A	ENSP00000360171:p.Ser1759Leu					ODZ1_uc011muj.1_Missense_Mutation_p.S1765L|ODZ1_uc010nqy.2_Missense_Mutation_p.S1766L	p.S1759L	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			26	5340	-			1759			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.5276C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711231	0.68730	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86097	-2.07;-2.03	5.63	5.63	0.86233	.	0.243792	0.41938	D	0.000781	D	0.82291	0.5005	L	0.59436	1.845	0.58432	D	0.999998	P;B;B	0.36282	0.546;0.361;0.411	B;B;B	0.26770	0.073;0.036;0.05	D	0.83497	0.0073	10	0.59425	D	0.04	.	18.7039	0.91630	0.0:0.0:1.0:0.0	.	1765;1766;1759	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	L	1759;1766	ENSP00000360171:S1759L;ENSP00000403954:S1766L	ENSP00000360171:S1759L	S	-	2	0	ODZ1	123366656	1.000000	0.71417	0.966000	0.40874	0.996000	0.88848	6.223000	0.72257	2.362000	0.80069	0.600000	0.82982	TCA		0.562	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		44	83	0	0	0	0	44	83				
TENM1	10178	broad.mit.edu	37	X	123556319	123556319	+	Missense_Mutation	SNP	T	T	A	rs369933683		TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:123556319T>A	ENST00000371130.3	-	23	4316	c.4253A>T	c.(4252-4254)aAg>aTg	p.K1418M	STAG2_ENST00000469481.1_3'UTR|TENM1_ENST00000422452.2_Missense_Mutation_p.K1425M	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1418					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AATTGCTACCTTGCTGACCAG	0.532																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(4252-4254)AAG>ATG		odz, odd Oz/ten-m homolog 1 isoform 3							119.0	96.0	104.0					X																	123556319		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123556319T>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4253A>T	X.37:g.123556319T>A	ENSP00000360171:p.Lys1418Met					ODZ1_uc011muj.1_Missense_Mutation_p.K1424M|ODZ1_uc010nqy.2_Missense_Mutation_p.K1425M	p.K1418M	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			23	4317	-			1418			NHL 4.|Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4253A>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145654	0.77888	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86865	-2.18;-2.14	5.68	5.68	0.88126	Six-bladed beta-propeller, TolB-like (1);	0.191594	0.46442	D	0.000292	D	0.90480	0.7018	M	0.65975	2.015	0.52099	D	0.999943	D;D;D	0.62365	0.991;0.981;0.988	P;P;P	0.54664	0.747;0.592;0.758	D	0.91239	0.5020	10	0.62326	D	0.03	.	14.9601	0.71151	0.0:0.0:0.0:1.0	.	1424;1425;1418	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	M	1418;1425	ENSP00000360171:K1418M;ENSP00000403954:K1425M	ENSP00000360171:K1418M	K	-	2	0	ODZ1	123384000	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.226000	0.58606	1.915000	0.55452	0.481000	0.45027	AAG		0.532	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		38	51	0	0	0	0	38	51				
WAPAL	23063	broad.mit.edu	37	10	88259577	88259580	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr10:88259577_88259580delTCTT	ENST00000298767.5	-	3	1892_1895	c.1420_1423delAAGA	c.(1420-1425)aagacafs	p.KT474fs		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	474	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTTTTGCTTGTCTTTCTTTCTACT	0.402																																						uc001kdo.2		NA																	0				ovary(1)	1						c.(1420-1425)AAGACAfs		wings apart-like homolog																																				SO:0001589	frameshift_variant	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88259577_88259580delTCTT	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1420_1423delAAGA	10.37:g.88259581_88259584delTCTT	ENSP00000298767:p.Lys474fs					WAPAL_uc001kdn.2_Frame_Shift_Del_p.K517fs|WAPAL_uc009xsw.2_Frame_Shift_Del_p.K474fs	p.K474fs	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			3	1862_1865	-			474_475			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Frame_Shift_Del	DEL	ENST00000298767.5	37	c.1420_1423delAAGA	CCDS7375.1																																																																																				0.402	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		25	43	NA	NA	NA	NA	25	43	---	---	---	---
CASP5	838	broad.mit.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-	rs372526393		TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr11:104879687delT	ENST00000260315.3	-	2	27	c.28delA	c.(28-30)aggfs	p.R11fs	CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Frame_Shift_Del_p.R24fs|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000444749.2_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	11					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388																																						uc010rva.1		NA																	0				ovary(2)|lung(1)	3						c.(28-30)AGGfs		caspase 5 isoform a precursor			,,,	18,749,3497		0,0,18,1,747,1366	101.0	98.0	99.0		,,,	-1.9	0.0	11		107	8,1495,6751		0,0,8,0,1495,2624	no	codingComplex,codingComplex,intron,intron	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	0,0,26,1,2242,3990	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2094,17.9878,18.1339	,,,	,,,	104879687	26,2244,10248	2201	4299	6500	SO:0001589	frameshift_variant	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104879687delT		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.28delA	11.37:g.104879687delT	ENSP00000260315:p.Arg11fs					CASP5_uc010ruz.1_Frame_Shift_Del_p.R23fs|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	p.R10fs	NM_004347	NP_004338	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	2	60	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	10					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	ENST00000260315.3	37	c.28delA	CCDS8328.2																																																																																				0.388	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		12	71	NA	NA	NA	NA	12	71	---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123073283	123073283	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr12:123073283delA	ENST00000333479.7	+	40	4096	c.3919delA	c.(3919-3921)aaafs	p.K1307fs	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1307					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TACATTAGTTAAATCAAGGCA	0.274																																						uc001ucv.2		NA																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(3919-3921)AAAfs		Rough Deal homolog, centromere/kinetochore							31.0	31.0	31.0					12																	123073283		1791	4047	5838	SO:0001589	frameshift_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123073283delA		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3919delA	12.37:g.123073283delA	ENSP00000328236:p.Lys1307fs					KNTC1_uc010taf.1_Intron	p.K1307fs	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	40	4082	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1307					A7E2C4|B3KSG2	Frame_Shift_Del	DEL	ENST00000333479.7	37	c.3919delA	CCDS45002.1																																																																																				0.274	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			2	4	NA	NA	NA	NA	2	4	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41088917	41088919	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:41088917_41088919delACA	ENST00000324545.8	+	43	7949_7951	c.7316_7318delACA	c.(7315-7320)tacaac>tac	p.N2441del	USP9X_ENST00000378308.2_In_Frame_Del_p.N2441del	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2441					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAGTACACTTACAACAATTGGTC	0.438																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	0				lung(3)|breast(2)|ovary(1)	6						c.(7315-7320)TACAAC>TAC		ubiquitin specific protease 9, X-linked isoform																																				SO:0001651	inframe_deletion	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41088917_41088919delACA	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.7316_7318delACA	X.37:g.41088920_41088922delACA	ENSP00000316357:p.Asn2441del					USP9X_uc004dfc.2_In_Frame_Del_p.N2441del	p.N2441del	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			43	7949_7951	+			2441					O75550|Q8WWT3|Q8WX12	In_Frame_Del	DEL	ENST00000324545.8	37	c.7316_7318delACA	CCDS43930.1																																																																																				0.438	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		39	56	NA	NA	NA	NA	39	56	---	---	---	---
