#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AMPD1	270	broad.mit.edu	37	1	115222328	115222328	+	Splice_Site	SNP	T	T	C			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:115222328T>C	ENST00000520113.2	-	7	883	c.868A>G	c.(868-870)Aag>Gag	p.K290E	AMPD1_ENST00000353928.6_Splice_Site_p.K257E|AMPD1_ENST00000369538.3_Splice_Site_p.K286E			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	290					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GTATAGGTCTTACTGTGAAAA	0.398																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(856-858)Aag>Gag		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						81.0	88.0	85.0					1																	115222328		2203	4300	6503	SO:0001630	splice_region_variant	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115222328T>C	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.867-1A>G	1.37:g.115222328T>C						AMPD1_ENST00000520113.2_Splice_Site_p.K290E|AMPD1_ENST00000353928.6_Splice_Site_p.K257E	p.K286E	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	903	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	257					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Splice_Site	SNP	ENST00000520113.2	37	c.856A>G	CCDS876.2	.	.	.	.	.	.	.	.	.	.	T	33	5.238876	0.95240	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.85556	-2.0;-2.0;-2.0	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.92825	0.7718	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.99;0.987	D	0.94220	0.7466	10	0.87932	D	0	-25.1626	16.1485	0.81594	0.0:0.0:0.0:1.0	.	286;257	Q5TF02;P23109	.;AMPD1_HUMAN	E	290;286;257	ENSP00000430075:K290E;ENSP00000358551:K286E;ENSP00000316520:K257E	ENSP00000316520:K257E	K	-	1	0	AMPD1	115023851	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.997000	0.88414	2.281000	0.76405	0.533000	0.62120	AAG		0.398	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4		Missense_Mutation	32	64	32	64	---	---	---	---
RUSC1	23623	broad.mit.edu	37	1	155296881	155296881	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:155296881C>T	ENST00000368352.5	+	8	2523	c.2372C>T	c.(2371-2373)cCt>cTt	p.P791L	RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.P381L|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.P685L|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000292254.4_Missense_Mutation_p.P322L|RUSC1_ENST00000368349.4_Missense_Mutation_p.P322L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	791					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TTTGGAGTGCCTGGGGGCCCC	0.562																																						ENST00000368352.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(2371-2373)cCt>cTt		RUN and SH3 domain containing 1							41.0	50.0	47.0					1																	155296881		2160	4274	6434	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155296881C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2372C>T	1.37:g.155296881C>T	ENSP00000357336:p.Pro791Leu					RUSC1_ENST00000368349.4_Missense_Mutation_p.P322L|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.P381L|RUSC1_ENST00000292254.4_Missense_Mutation_p.P322L|RUSC1_ENST00000368354.3_Missense_Mutation_p.P685L	p.P791L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		8	2523	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		791					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.2372C>T	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257787	0.39896	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.32023	1.92;1.9;1.47;1.49;1.49	4.9	3.99	0.46301	.	33.929500	0.00520	N	0.000191	T	0.34948	0.0915	L	0.57536	1.79	0.43050	D	0.994652	B;P;B;D;P;B;B	0.57257	0.418;0.554;0.418;0.979;0.736;0.128;0.22	B;B;B;P;B;B;B	0.54270	0.069;0.145;0.069;0.747;0.159;0.046;0.05	T	0.14008	-1.0488	10	0.66056	D	0.02	-7.4468	10.5429	0.45043	0.0:0.9092:0.0:0.0908	.	289;322;322;216;381;290;791	B4DQB8;Q9BVN2-2;Q5T9U9;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;.;RUSC1_HUMAN	L	685;791;381;322;322	ENSP00000357338:P685L;ENSP00000357336:P791L;ENSP00000357331:P381L;ENSP00000357333:P322L;ENSP00000292254:P322L	ENSP00000292254:P322L	P	+	2	0	RUSC1	153563505	0.442000	0.25633	0.976000	0.42696	0.008000	0.06430	0.970000	0.29383	1.439000	0.47511	-0.218000	0.12543	CCT		0.562	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			20	41	20	41	---	---	---	---
ARF1	375	broad.mit.edu	37	1	228284842	228284842	+	Silent	SNP	C	C	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:228284842C>T	ENST00000541182.1	+	2	289	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ARF1_ENST00000272102.5_Silent_p.F9F|ARF1_ENST00000478424.1_3'UTR|MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000540651.1_Silent_p.F9F	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	9					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCAACCTCTTCAAGGGCCTTT	0.542																																						ENST00000541182.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10						c.(25-27)ttC>ttT		ADP-ribosylation factor 1							118.0	98.0	105.0					1																	228284842		2203	4300	6503	SO:0001819	synonymous_variant	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228284842C>T	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.27C>T	1.37:g.228284842C>T						ARF1_ENST00000272102.5_Silent_p.F9F|ARF1_ENST00000540651.1_Silent_p.F9F|ARF1_ENST00000478424.1_3'UTR	p.F9F	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN			2	289	+		Prostate(94;0.0405)	9					P10947|P32889	Silent	SNP	ENST00000541182.1	37	c.27C>T	CCDS1565.1																																																																																				0.542	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		28	68	28	68	---	---	---	---
GALNT14	79623	broad.mit.edu	37	2	31155004	31155004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr2:31155004G>A	ENST00000349752.5	-	10	1627	c.988C>T	c.(988-990)Cga>Tga	p.R330*	GALNT14_ENST00000324589.5_Nonsense_Mutation_p.R335*|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Nonsense_Mutation_p.R297*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.R310*|GALNT14_ENST00000420311.2_Nonsense_Mutation_p.R295*	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	330	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGCCCCACTCGGCTGCAGGGG	0.577																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(988-990)Cga>Tga		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							96.0	89.0	91.0					2																	31155004		2203	4300	6503	SO:0001587	stop_gained	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31155004G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.988C>T	2.37:g.31155004G>A	ENSP00000288988:p.Arg330*					GALNT14_ENST00000324589.5_Nonsense_Mutation_p.R335*|GALNT14_ENST00000420311.2_Nonsense_Mutation_p.R295*|GALNT14_ENST00000356174.3_Nonsense_Mutation_p.R297*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.R310*|GALNT14_ENST00000486564.1_5'UTR	p.R330*	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			10	1627	-	Acute lymphoblastic leukemia(172;0.155)		330			Catalytic subdomain B.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Nonsense_Mutation	SNP	ENST00000349752.5	37	c.988C>T	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	G	35	5.490456	0.96339	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	.	.	.	4.98	2.05	0.26809	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8242	0.63340	0.0:0.0:0.6012:0.3988	.	.	.	.	X	330;335;310;297;295;297	.	ENSP00000314500:R335X	R	-	1	2	GALNT14	31008508	1.000000	0.71417	0.981000	0.43875	0.964000	0.63967	2.440000	0.44855	0.111000	0.17947	-0.310000	0.09108	CGA		0.577	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		20	38	20	38	---	---	---	---
LOXL3	84695	broad.mit.edu	37	2	74762802	74762802	+	Silent	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr2:74762802G>A	ENST00000264094.3	-	8	1400	c.1329C>T	c.(1327-1329)ggC>ggT	p.G443G	LOXL3_ENST00000409986.1_Silent_p.G298G|LOXL3_ENST00000393937.2_Silent_p.G298G|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409249.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	443	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CACAGATGAGGCCCCAGCGAA	0.642																																						ENST00000264094.3																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1327-1329)ggC>ggT		lysyl oxidase-like 3							55.0	66.0	62.0					2																	74762802		2203	4300	6503	SO:0001819	synonymous_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74762802G>A	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1329C>T	2.37:g.74762802G>A						LOXL3_ENST00000409986.1_Silent_p.G298G|LOXL3_ENST00000393937.2_Silent_p.G298G|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron	p.G443G	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			8	1400	-			443			SRCR 4.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	c.1329C>T	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	G	7.168	0.587036	0.13749	.	.	ENSG00000115318	ENST00000420535	.	.	.	5.02	-0.991	0.10235	.	.	.	.	.	T	0.39860	0.1094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25222	-1.0138	4	.	.	.	.	1.4819	0.02438	0.4103:0.138:0.3099:0.1418	.	.	.	.	S	170	.	.	P	-	1	0	LOXL3	74616310	0.001000	0.12720	0.996000	0.52242	0.984000	0.73092	-0.646000	0.05403	-0.084000	0.12595	-0.253000	0.11424	CCT		0.642	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		45	54	45	54	---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10128872	10128872	+	Nonsense_Mutation	SNP	T	T	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr3:10128872T>A	ENST00000419585.1	+	34	3551	c.3390T>A	c.(3388-3390)tgT>tgA	p.C1130*	FANCD2OS_ENST00000436517.1_5'UTR|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000287647.3_Nonsense_Mutation_p.C1130*|FANCD2_ENST00000383807.1_Nonsense_Mutation_p.C1130*|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.C1130*			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1130					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTTTCCAGTGTGCTCTTTATC	0.378			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(3388-3390)tgT>tgA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							200.0	196.0	197.0					3																	10128872		2203	4300	6503	SO:0001587	stop_gained	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10128872T>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3390T>A	3.37:g.10128872T>A	ENSP00000398754:p.Cys1130*					FANCD2_ENST00000383807.1_Nonsense_Mutation_p.C1130*|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2_ENST00000419585.1_Nonsense_Mutation_p.C1130*|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.C1130*	p.C1130*	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	34	3483	+			1130					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Nonsense_Mutation	SNP	ENST00000419585.1	37	c.3390T>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	T	42	9.335017	0.99140	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	.	.	.	5.54	5.54	0.83059	.	0.203832	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1371	0.53977	0.0:0.0:0.0:1.0	.	.	.	.	X	1130	.	ENSP00000287647:C1130X	C	+	3	2	FANCD2	10103872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.392000	0.20801	2.117000	0.64856	0.529000	0.55759	TGT		0.378	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			19	56	19	56	---	---	---	---
CCDC36	339834	broad.mit.edu	37	3	49294572	49294572	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr3:49294572T>C	ENST00000438782.1	+	8	1878	c.1642T>C	c.(1642-1644)Tcc>Ccc	p.S548P	CCDC36_ENST00000296449.5_Missense_Mutation_p.S548P|RP11-3B7.1_ENST00000440528.3_5'Flank|CCDC36_ENST00000452691.2_Missense_Mutation_p.S548P			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	548										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CTGGCTACTTTCCAGCAGTTC	0.522																																						ENST00000438782.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14						c.(1642-1644)Tcc>Ccc		coiled-coil domain containing 36							73.0	77.0	76.0					3																	49294572		2203	4300	6503	SO:0001583	missense	339834							g.chr3:49294572T>C	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.1642T>C	3.37:g.49294572T>C	ENSP00000391788:p.Ser548Pro					CCDC36_ENST00000296449.5_Missense_Mutation_p.S548P|CCDC36_ENST00000452691.2_Missense_Mutation_p.S548P	p.S548P			Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	8	1878	+			548					C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	ENST00000438782.1	37	c.1642T>C	CCDS33755.2	.	.	.	.	.	.	.	.	.	.	T	18.62	3.663147	0.67700	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.47869	0.83;0.83;0.83	3.97	3.97	0.46021	.	0.644830	0.13419	N	0.389303	T	0.46580	0.1400	N	0.17082	0.46	0.30646	N	0.755939	D	0.69078	0.997	D	0.63793	0.918	T	0.37056	-0.9722	10	0.27785	T	0.31	-2.83	9.4429	0.38679	0.0:0.0:0.0:1.0	.	548	Q8IYA8	CCD36_HUMAN	P	548;548;548;528	ENSP00000296449:S548P;ENSP00000391788:S548P;ENSP00000407837:S548P	ENSP00000296449:S548P	S	+	1	0	CCDC36	49269576	0.018000	0.18449	0.011000	0.14972	0.937000	0.57800	0.206000	0.17375	1.791000	0.52520	0.459000	0.35465	TCC		0.522	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		26	42	26	42	---	---	---	---
LTC4S	4056	broad.mit.edu	37	5	179221091	179221091	+	Missense_Mutation	SNP	G	G	A	rs370555009		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr5:179221091G>A	ENST00000292596.10	+	1	105	c.10G>A	c.(10-12)Gag>Aag	p.E4K	MAML1_ENST00000503050.1_3'UTR|LTC4S_ENST00000401985.3_Missense_Mutation_p.E4K	NM_145867.1	NP_665874.1	Q16873	LTC4S_HUMAN	leukotriene C4 synthase	4					arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	enzyme activator activity (GO:0008047)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|leukotriene-C4 synthase activity (GO:0004464)|lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)	1	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Glutathione(DB00143)	CATGAAGGACGAGGTAGCTCT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		19946	0.001		0.0	False		,,,				2504	0.0					ENST00000292596.10																			0				haematopoietic_and_lymphoid_tissue(1)	1	GRCh37	CM056643	LTC4S	M		c.(10-12)Gag>Aag		leukotriene C4 synthase	Glutathione(DB00143)	G	LYS/GLU	1,4405		0,1,2202	163.0	103.0	124.0		10	3.0	0.4	5		124	0,8600		0,0,4300	no	missense	LTC4S	NM_145867.1	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	4/151	179221091	1,13005	2203	4300	6503	SO:0001583	missense	4056				hormone biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|prostanoid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear outer membrane	enzyme activator activity|glutathione peroxidase activity|leukotriene-C4 synthase activity|lipid binding	g.chr5:179221091G>A	U11552	CCDS34316.1	5q35	2009-07-10			ENSG00000213316	ENSG00000213316	4.4.1.20		6719	protein-coding gene	gene with protein product		246530				8052639	Standard	NM_145867		Approved	MGC33147	uc003mko.3	Q16873	OTTHUMG00000150314	ENST00000292596.10:c.10G>A	5.37:g.179221091G>A	ENSP00000292596:p.Glu4Lys					MAML1_ENST00000503050.1_3'UTR|LTC4S_ENST00000401985.3_Missense_Mutation_p.E4K	p.E4K	NM_145867.1	NP_665874.1	Q16873	LTC4S_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	105	+	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	4					Q8N6P0|Q9UC73|Q9UD18	Missense_Mutation	SNP	ENST00000292596.10	37	c.10G>A	CCDS34316.1	.	.	.	.	.	.	.	.	.	.	G	9.458	1.092277	0.20471	2.27E-4	0.0	ENSG00000213316	ENST00000292596;ENST00000401985	T;T	0.70045	-0.45;-0.27	3.9	3.02	0.34903	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.319966	0.28499	U	0.015140	T	0.53899	0.1825	L	0.54323	1.7	0.26611	N	0.972832	P	0.38078	0.617	B	0.31016	0.123	T	0.46857	-0.9161	10	0.36615	T	0.2	-1.1156	8.8056	0.34936	0.1099:0.0:0.8901:0.0	.	4	Q16873	LTC4S_HUMAN	K	4	ENSP00000292596:E4K;ENSP00000385627:E4K	ENSP00000292596:E4K	E	+	1	0	LTC4S	179153697	0.978000	0.34361	0.390000	0.26220	0.081000	0.17604	3.473000	0.53122	0.754000	0.32968	0.462000	0.41574	GAG		0.617	LTC4S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317536.2	NM_000897		9	28	9	28	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32017326	32017326	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr6:32017326C>A	ENST00000375244.3	-	28	9679	c.9478G>T	c.(9478-9480)Gcc>Tcc	p.A3160S	TNXB_ENST00000375247.2_Missense_Mutation_p.A3158S			P22105	TENX_HUMAN	tenascin XB	3205	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCTCCGGGGCCTCAGTGCTG	0.657																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9478-9480)Gcc>Tcc		tenascin XB							37.0	41.0	40.0					6																	32017326		1164	2504	3668	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32017326C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9478G>T	6.37:g.32017326C>A	ENSP00000364393:p.Ala3160Ser					TNXB_ENST00000375247.2_Missense_Mutation_p.A3158S	p.A3160S			P22105	TENX_HUMAN			28	9679	-			3205			Fibronectin type-III 23.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.9478G>T		.	.	.	.	.	.	.	.	.	.	C	13.29	2.193524	0.38707	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58210	0.5;0.35	3.87	3.87	0.44632	.	0.000000	0.46758	D	0.000269	T	0.54240	0.1846	M	0.79805	2.47	0.22571	N	0.998972	D	0.56287	0.975	P	0.62560	0.904	T	0.47799	-0.9089	10	0.18276	T	0.48	.	11.246	0.48998	0.0:1.0:0.0:0.0	.	3158	P22105-3	.	S	3160;3158	ENSP00000364393:A3160S;ENSP00000364396:A3158S	ENSP00000364393:A3160S	A	-	1	0	TNXB	32125304	0.378000	0.25114	1.000000	0.80357	0.084000	0.17831	0.858000	0.27845	2.006000	0.58801	0.306000	0.20318	GCC		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	30	10	30	---	---	---	---
MANEA	79694	broad.mit.edu	37	6	96054103	96054103	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr6:96054103A>G	ENST00000358812.4	+	5	1345	c.1211A>G	c.(1210-1212)gAg>gGg	p.E404G		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	404	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TCTTTTAATGAGTGGCATGAA	0.418																																						ENST00000358812.4																			0				breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1210-1212)gAg>gGg		mannosidase, endo-alpha							60.0	61.0	61.0					6																	96054103		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96054103A>G	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1211A>G	6.37:g.96054103A>G	ENSP00000351669:p.Glu404Gly						p.E404G	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1345	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	404			Catalytic (Probable).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.1211A>G	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.814975	0.90790	.	.	ENSG00000172469	ENST00000358812	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82834	0.5123	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86549	0.1833	9	0.87932	D	0	-18.1636	16.0034	0.80327	1.0:0.0:0.0:0.0	.	404	Q5SRI9	MANEA_HUMAN	G	404	.	ENSP00000351669:E404G	E	+	2	0	MANEA	96160824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.371000	0.80710	0.533000	0.62120	GAG		0.418	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		15	33	15	33	---	---	---	---
CTAGE9	643854	broad.mit.edu	37	6	132032076	132032076	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr6:132032076C>A	ENST00000314099.8	-	1	130	c.82G>T	c.(82-84)Gag>Tag	p.E28*	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	28						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CTCATACTCTCAGGTAGTGCT	0.522																																						ENST00000314099.8																			0				endometrium(1)|lung(1)	2						c.(82-84)Gag>Tag		CTAGE family, member 9							105.0	183.0	165.0					6																	132032076		482	1572	2054	SO:0001587	stop_gained	643854					integral to membrane		g.chr6:132032076C>A		CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.82G>T	6.37:g.132032076C>A	ENSP00000395587:p.Glu28*					ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	p.E28*	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN			1	130	-			28						Nonsense_Mutation	SNP	ENST00000314099.8	37	c.82G>T	CCDS47475.1	.	.	.	.	.	.	.	.	.	.	-	11.36	1.614956	0.28712	.	.	ENSG00000236761	ENST00000314099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	.	.	.	.	.	.	.	X	28	.	ENSP00000395587:E28X	E	-	1	0	CTAGE9	132073769	1.000000	0.71417	0.007000	0.13788	0.000000	0.00434	0.559000	0.23485	0.497000	0.27926	0.000000	0.15137	GAG		0.522	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1	NM_001145659		16	41	16	41	---	---	---	---
C7orf60	154743	broad.mit.edu	37	7	112462373	112462373	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr7:112462373G>A	ENST00000297145.4	-	5	809	c.644C>T	c.(643-645)gCa>gTa	p.A215V	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	215							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						AGCATCCTGTGCAAGCTGGAG	0.388																																						ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(643-645)gCa>gTa		chromosome 7 open reading frame 60							43.0	44.0	44.0					7																	112462373		1860	4102	5962	SO:0001583	missense	154743							g.chr7:112462373G>A		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.644C>T	7.37:g.112462373G>A	ENSP00000297145:p.Ala215Val						p.A215V	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			5	809	-			215					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.644C>T	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129141	0.77549	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	L	0.57536	1.79	0.80722	D	1	D;D	0.69078	0.997;0.984	D;P	0.75020	0.985;0.829	T	0.78214	-0.2291	9	0.72032	D	0.01	-10.0621	20.0044	0.97430	0.0:0.0:1.0:0.0	.	162;215	B4DST1;Q1RMZ1	.;CG060_HUMAN	V	215;197;162	.	ENSP00000297145:A215V	A	-	2	0	C7orf60	112249609	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.714000	0.92807	0.650000	0.86243	GCA		0.388	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		20	31	20	31	---	---	---	---
DCLRE1C	64421	broad.mit.edu	37	10	14995921	14995921	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr10:14995921A>G	ENST00000378278.2	-	1	126	c.89T>C	c.(88-90)tTc>tCc	p.F30S	DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000378246.2_5'UTR|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.F30S|DCLRE1C_ENST00000378249.1_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	30					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GTGGGACAGGAAGTAGGCGCG	0.652								Non-homologous end-joining																														ENST00000378289.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(88-90)tTc>tCc	Non-homologous end-joining	DNA cross-link repair 1C							56.0	60.0	58.0					10																	14995921		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14995921A>G	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.89T>C	10.37:g.14995921A>G	ENSP00000367527:p.Phe30Ser					DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378246.2_5'UTR|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.F30S|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378249.1_5'UTR	p.F30S			Q96SD1	DCR1C_HUMAN			1	510	-			30					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.89T>C	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	A	36	5.948575	0.97134	.	.	ENSG00000152457	ENST00000378289;ENST00000378278	T;T	0.77229	-1.08;-1.08	5.74	5.74	0.90152	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.92182	0.7521	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94606	0.7800	10	0.87932	D	0	.	15.9917	0.80211	1.0:0.0:0.0:0.0	.	30;30	Q96SD1-4;Q96SD1	.;DCR1C_HUMAN	S	30	ENSP00000367538:F30S;ENSP00000367527:F30S	ENSP00000367527:F30S	F	-	2	0	DCLRE1C	15035927	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.148000	0.89630	2.317000	0.78254	0.459000	0.35465	TTC		0.652	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		11	29	11	29	---	---	---	---
CD81	975	broad.mit.edu	37	11	2416275	2416275	+	Splice_Site	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:2416275A>G	ENST00000263645.5	+	4	609	c.353A>G	c.(352-354)cAg>cGg	p.Q118R	CD81_ENST00000524805.1_3'UTR|CD81_ENST00000481687.1_Splice_Site_p.Q124R|CD81_ENST00000526072.1_Splice_Site_p.Q47R|CD81_ENST00000381036.3_Splice_Site_p.Q156R|CD81_ENST00000492627.1_Splice_Site_p.Q47R	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	118					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		AACAAGGACCAGGTGAGCCTG	0.662																																						ENST00000263645.5																			0				endometrium(1)|lung(3)|skin(1)	5						c.(352-354)cAg>cGg		CD81 molecule							57.0	54.0	55.0					11																	2416275		2201	4297	6498	SO:0001630	splice_region_variant	975				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding	g.chr11:2416275A>G		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"""CD molecules"", ""Tetraspanins"""	1701	protein-coding gene	gene with protein product		186845	"""CD81 antigen (target of antiproliferative antibody 1)"""	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.354+1A>G	11.37:g.2416275A>G						CD81_ENST00000526072.1_Splice_Site_p.Q47R|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000492627.1_Splice_Site_p.Q47R|CD81_ENST00000381036.3_Splice_Site_p.Q156R|CD81_ENST00000481687.1_Splice_Site_p.Q124R	p.Q118R	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)	4	609	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	118					P18582|Q5U0J6	Splice_Site	SNP	ENST00000263645.5	37	c.353A>G	CCDS7734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.23|17.23	3.335520|3.335520	0.60853|0.60853	.|.	.|.	ENSG00000110651|ENSG00000110651	ENST00000475945;ENST00000530648;ENST00000263645;ENST00000533417;ENST00000492627;ENST00000527343;ENST00000381036;ENST00000492252;ENST00000526072;ENST00000481687|ENST00000464784	T;T;T;T;T;T;T;T;T;T|.	0.80480|.	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38|.	3.52|3.52	3.52|3.52	0.40303|0.40303	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);|.	0.147233|.	0.46442|.	D|.	0.000297|.	T|T	0.56790|0.56790	0.2009|0.2009	L|L	0.43646|0.43646	1.37|1.37	0.48975|0.48975	D|D	0.999738|0.999738	P;P|.	0.41947|.	0.766;0.533|.	P;B|.	0.45071|.	0.468;0.334|.	T|T	0.53885|0.53885	-0.8375|-0.8375	10|5	0.37606|.	T|.	0.19|.	.|.	11.3267|11.3267	0.49452|0.49452	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	156;118|.	A6NMH8;P60033|.	.;CD81_HUMAN|.	R|G	47;47;118;113;47;107;156;111;47;124|103	ENSP00000433178:Q47R;ENSP00000432723:Q47R;ENSP00000263645:Q118R;ENSP00000435633:Q113R;ENSP00000437242:Q47R;ENSP00000433767:Q107R;ENSP00000370424:Q156R;ENSP00000432249:Q111R;ENSP00000431780:Q47R;ENSP00000432033:Q124R|.	ENSP00000263645:Q118R|.	Q|R	+|+	2|1	0|2	CD81|CD81	2372851|2372851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.287000|3.287000	0.51732|0.51732	1.621000|1.621000	0.50320|0.50320	0.459000|0.459000	0.35465|0.35465	CAG|AGA		0.662	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356	Missense_Mutation	3	40	3	40	---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9838385	9838385	+	Splice_Site	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:9838385A>G	ENST00000256190.8	-	29	4116		c.e29+1			NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2						cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAGAAATCTTACCCTTAGTTG	0.403																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.e29+1		SET binding factor 2							73.0	61.0	65.0					11																	9838385		2201	4294	6495	SO:0001630	splice_region_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9838385A>G	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3978+1T>C	11.37:g.9838385A>G								NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	29	4116	-								Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Splice_Site	SNP	ENST00000256190.8	37		CCDS31427.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409863	0.83340	.	.	ENSG00000133812	ENST00000256190;ENST00000530741	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5179	0.75840	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SBF2	9794961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.071000	0.62044	0.460000	0.39030	.		0.403	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	Intron	14	34	14	34	---	---	---	---
RAG1	5896	broad.mit.edu	37	11	36595191	36595191	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:36595191A>G	ENST00000299440.5	+	2	449	c.337A>G	c.(337-339)Atc>Gtc	p.I113V		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	113	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TCTCTGCCGCATCTGTGGGAA	0.443									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(337-339)Atc>Gtc		recombination activating gene 1							112.0	107.0	108.0					11																	36595191		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595191A>G	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.337A>G	11.37:g.36595191A>G	ENSP00000299440:p.Ile113Val						p.I113V	NM_000448.2	NP_000439	P15918	RAG1_HUMAN			2	449	+	all_lung(20;0.226)	all_hematologic(20;0.107)	113			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.337A>G	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473434	0.43942	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.73897	-0.79;-0.79	6.14	6.14	0.99180	.	0.120828	0.56097	D	0.000035	D	0.83575	0.5284	M	0.75150	2.29	0.42510	D	0.992965	P	0.42409	0.779	P	0.53266	0.722	D	0.85289	0.1066	10	0.87932	D	0	.	16.806	0.85666	1.0:0.0:0.0:0.0	.	113	P15918	RAG1_HUMAN	V	113	ENSP00000434610:I113V;ENSP00000299440:I113V	ENSP00000299440:I113V	I	+	1	0	RAG1	36551767	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.214000	0.42853	2.367000	0.80283	0.529000	0.55759	ATC		0.443	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		29	37	29	37	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2622020	2622020	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr12:2622020T>A	ENST00000347598.4	+	9	1260	c.1260T>A	c.(1258-1260)gaT>gaA	p.D420E	CACNA1C_ENST00000399638.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D420E|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D420E|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D420E	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	420					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCGGGGAGATTTCCAGAAGC	0.567																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1258-1260)gaT>gaA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						29.0	35.0	33.0					12																	2622020		2143	4267	6410	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2622020T>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1260T>A	12.37:g.2622020T>A	ENSP00000266376:p.Asp420Glu					CACNA1C_ENST00000399606.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D420E|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D420E|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D420E|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D420E	p.D420E	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	9	1525	+			420					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.1260T>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957016	0.53293	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35	4.67	-1.97	0.07503	.	0.046376	0.85682	D	0.000000	D	0.95818	0.8639	L	0.31476	0.935	0.46725	D	0.999171	B;D;D;B;D;D;D;D;B;P;D;D;B;D;D;D;D;P;D;P;D;D;D;D;D	0.76494	0.141;0.999;0.996;0.169;0.957;0.998;0.996;0.998;0.014;0.907;0.998;0.996;0.074;0.996;0.994;0.996;0.996;0.699;0.993;0.494;0.996;0.998;0.998;0.996;0.996	B;D;D;B;D;D;D;D;B;P;D;D;B;D;D;D;D;B;D;B;D;D;D;D;D	0.81914	0.155;0.994;0.99;0.084;0.96;0.995;0.99;0.995;0.174;0.664;0.995;0.99;0.219;0.995;0.978;0.99;0.987;0.174;0.975;0.174;0.987;0.995;0.995;0.987;0.99	D	0.92073	0.5666	10	0.24483	T	0.36	.	11.8398	0.52346	0.0:0.5324:0.0:0.4676	.	49;420;417;420;420;420;420;420;420;420;420;420;391;420;420;420;420;420;420;420;420;420;420;420;420	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	E	420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;261	ENSP00000336982:D420E;ENSP00000382563:D420E;ENSP00000437936:D420E;ENSP00000382552:D420E;ENSP00000382547:D420E;ENSP00000382506:D420E;ENSP00000382530:D420E;ENSP00000382546:D420E;ENSP00000382500:D420E;ENSP00000382549:D420E;ENSP00000266376:D420E;ENSP00000382515:D420E;ENSP00000382510:D420E;ENSP00000341092:D420E;ENSP00000382537:D420E;ENSP00000329877:D420E;ENSP00000382557:D420E;ENSP00000385724:D420E;ENSP00000382512:D420E;ENSP00000382542:D420E;ENSP00000382526:D420E;ENSP00000385896:D420E;ENSP00000382504:D420E	ENSP00000323129:D261E	D	+	3	2	CACNA1C	2492281	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	0.829000	0.27449	-0.196000	0.10366	-0.290000	0.09829	GAT		0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		3	14	3	14	---	---	---	---
CHTF18	63922	broad.mit.edu	37	16	844192	844192	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr16:844192G>T	ENST00000262315.9	+	15	2004	c.1941G>T	c.(1939-1941)aaG>aaT	p.K647N	CHTF18_ENST00000455171.2_Missense_Mutation_p.K675N|CHTF18_ENST00000317063.6_Missense_Mutation_p.K856N	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	647					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				AGCACGAGAAGGTGGTCCAGG	0.682																																						ENST00000317063.6																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(2566-2568)aaG>aaT		CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)							37.0	43.0	41.0					16																	844192		2155	4258	6413	SO:0001583	missense	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:844192G>T	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.1941G>T	16.37:g.844192G>T	ENSP00000262315:p.Lys647Asn					CHTF18_ENST00000455171.2_Missense_Mutation_p.K675N|CHTF18_ENST00000262315.9_Missense_Mutation_p.K647N	p.K856N			Q8WVB6	CTF18_HUMAN			17	2568	+		Hepatocellular(780;0.00335)	647					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	c.2568G>T	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281200	0.59758	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.13420	2.62;2.6;2.59	5.47	3.49	0.39957	.	0.093553	0.64402	D	0.000001	T	0.40196	0.1107	M	0.88979	2.995	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.39800	-0.9596	10	0.56958	D	0.05	-46.4313	10.2235	0.43212	0.1666:0.0:0.8334:0.0	.	675;647	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	N	856;675;647	ENSP00000313029:K856N;ENSP00000406252:K675N;ENSP00000262315:K647N	ENSP00000262315:K647N	K	+	3	2	CHTF18	784193	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.612000	0.24283	1.318000	0.45170	0.655000	0.94253	AAG		0.682	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		10	24	10	24	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30722964	30722964	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr16:30722964A>G	ENST00000262518.4	+	11	1776	c.1391A>G	c.(1390-1392)gAt>gGt	p.D464G	SRCAP_ENST00000344771.4_Missense_Mutation_p.D464G|SRCAP_ENST00000395059.2_Missense_Mutation_p.D464G|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	464	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCAGTGAAGATGAGGATGAA	0.517																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(1390-1392)gAt>gGt		Snf2-related CREBBP activator protein							106.0	105.0	106.0					16																	30722964		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30722964A>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1391A>G	16.37:g.30722964A>G	ENSP00000262518:p.Asp464Gly					SRCAP_ENST00000344771.4_Missense_Mutation_p.D464G|SRCAP_ENST00000395059.2_Missense_Mutation_p.D464G	p.D464G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		11	1776	+			464			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.1391A>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	A	8.727	0.915738	0.17907	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91843	-2.92;-2.89;-2.89	4.32	4.32	0.51571	.	0.846637	0.10461	N	0.671966	D	0.85957	0.5818	N	0.24115	0.695	0.25307	N	0.989238	B;B;B	0.21606	0.017;0.058;0.01	B;B;B	0.20767	0.031;0.031;0.014	T	0.76421	-0.2965	10	0.44086	T	0.13	-0.7918	9.6343	0.39798	0.8246:0.1754:0.0:0.0	.	464;464;464	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	G	464	ENSP00000262518:D464G;ENSP00000378499:D464G;ENSP00000343042:D464G	ENSP00000262518:D464G	D	+	2	0	SRCAP	30630465	0.987000	0.35691	0.813000	0.32504	0.463000	0.32649	3.082000	0.50128	1.937000	0.56155	0.460000	0.39030	GAT		0.517	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		21	68	21	68	---	---	---	---
CCL15	6359	broad.mit.edu	37	17	34324881	34324881	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr17:34324881C>A	ENST00000354059.4	-	4	816	c.264G>T	c.(262-264)aaG>aaT	p.K88N	CCL14_ENST00000536149.1_De_novo_Start_OutOfFrame|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.K88N	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	88					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGCCGCCCCTTCTTGGTGA	0.507																																						ENST00000536149.1																			0				large_intestine(1)|lung(6)	7								chemokine (C-C motif) ligand 14							54.0	53.0	53.0					17																	34324881		2203	4300	6503	SO:0001583	missense	6358				cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	g.chr17:34324881C>A	AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"""Chemokine ligands"", ""Endogenous ligands"""	10613	protein-coding gene	gene with protein product	"""leukotactin 1"", ""CC chemokine 3"", ""macrophage inflammatory protein 5"", ""chemokine CC-2"", ""MIP-1 delta"""	601393	"""small inducible cytokine subfamily A (Cys-Cys), member 15"""	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.264G>T	17.37:g.34324881C>A	ENSP00000293276:p.Lys88Asn					CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.K88N|CCL15_ENST00000354059.4_Missense_Mutation_p.K88N				Q16627	CCL14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	0	832	-		Ovarian(249;0.17)						B2RU34|E1P651|Q9UM74	Translation_Start_Site	SNP	ENST00000354059.4	37		CCDS11304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.69|14.69	2.610942|2.610942	0.46631|0.46631	.|.	.|.	ENSG00000161574|ENSG00000161574	ENST00000354059|ENST00000394506	T|.	0.05382|.	3.45|.	4.72|4.72	-6.98|-6.98	0.01611|0.01611	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);|.	0.796847|.	0.10653|.	N|.	0.649640|.	T|T	0.31071|0.31071	0.0785|0.0785	L|L	0.52823|0.52823	1.66|1.66	0.09310|0.09310	N|N	1|1	B|.	0.29481|.	0.245|.	B|.	0.35039|.	0.194|.	T|T	0.36480|0.36480	-0.9746|-0.9746	10|5	0.54805|.	T|.	0.06|.	.|.	0.9572|0.9572	0.01388|0.01388	0.3366:0.1609:0.1108:0.3916|0.3366:0.1609:0.1108:0.3916	.|.	88|.	Q16663|.	CCL15_HUMAN|.	N|M	88|36	ENSP00000293276:K88N|.	ENSP00000293276:K88N|.	K|R	-|-	3|2	2|0	CCL15|CCL15	31348994|31348994	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.038000|0.038000	0.13279|0.13279	-1.099000|-1.099000	0.03343|0.03343	-1.254000|-1.254000	0.02485|0.02485	0.591000|0.591000	0.81541|0.81541	AAG|AGG		0.507	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256584.2	NM_004167		13	32	13	32	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696689	47696689	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr17:47696689A>T	ENST00000393328.2	-	5	624	c.259T>A	c.(259-261)Tac>Aac	p.Y87N	SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N|SPOP_ENST00000393331.3_Missense_Mutation_p.Y87N|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000513080.1_5'UTR	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.Y87N(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AGTAACAGGTAAAGTGACAGG	0.403										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.Y87N(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(259-261)Tac>Aac		speckle-type POZ protein							113.0	106.0	108.0					17																	47696689		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696689A>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.259T>A	17.37:g.47696689A>T	ENSP00000377001:p.Tyr87Asn	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.Y87N|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N|SPOP_ENST00000513080.1_5'UTR	p.Y87N	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	729	-			87			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.259T>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.737620	0.89573	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.86163	0.5867	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89503	0.3765	10	0.66056	D	0.02	-9.2801	15.4649	0.75390	1.0:0.0:0.0:0.0	.	87	O43791	SPOP_HUMAN	N	87;87;87;87;87;40;87;87;87;87;87	ENSP00000377001:Y87N;ENSP00000377004:Y87N;ENSP00000240327:Y87N;ENSP00000425905:Y87N;ENSP00000420908:Y87N;ENSP00000426986:Y87N;ENSP00000420960:Y87N;ENSP00000426262:Y87N;ENSP00000424119:Y87N;ENSP00000426537:Y87N	ENSP00000240327:Y87N	Y	-	1	0	SPOP	45051688	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TAC		0.403	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		20	55	20	55	---	---	---	---
USHBP1	83878	broad.mit.edu	37	19	17374839	17374839	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:17374839C>A	ENST00000252597.3	-	3	348	c.175G>T	c.(175-177)Gag>Tag	p.E59*	USHBP1_ENST00000598570.1_Intron|USHBP1_ENST00000431146.2_Intron	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCACTGACCTCCTCCATGGGG	0.617																																						ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(175-177)Gag>Tag		Usher syndrome 1C binding protein 1							40.0	34.0	36.0					19																	17374839		2203	4300	6503	SO:0001587	stop_gained	83878						PDZ domain binding	g.chr19:17374839C>A	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.175G>T	19.37:g.17374839C>A	ENSP00000252597:p.Glu59*					USHBP1_ENST00000598570.1_Intron|USHBP1_ENST00000431146.2_Intron	p.E59*	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			3	348	-			59						Nonsense_Mutation	SNP	ENST00000252597.3	37	c.175G>T	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156143	0.57259	.	.	ENSG00000130307	ENST00000252597;ENST00000324554	.	.	.	2.63	1.56	0.23342	.	0.229900	0.22396	N	0.060609	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-7.4936	7.3558	0.26719	0.0:0.7264:0.2736:0.0	.	.	.	.	X	59	.	ENSP00000252597:E59X	E	-	1	0	USHBP1	17235839	0.014000	0.17966	0.005000	0.12908	0.002000	0.02628	0.725000	0.25970	0.659000	0.30945	-0.302000	0.09304	GAG		0.617	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		3	14	3	14	---	---	---	---
SLC27A5	10998	broad.mit.edu	37	19	59012735	59012735	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:59012735A>T	ENST00000263093.2	-	4	1209	c.1100T>A	c.(1099-1101)tTc>tAc	p.F367Y	SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.F283Y|SLC27A5_ENST00000599700.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	367					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GTCATCCCAGAAGCAGGAAGT	0.532																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1099-1101)tTc>tAc		solute carrier family 27 (fatty acid transporter), member 5							86.0	85.0	86.0					19																	59012735		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59012735A>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1100T>A	19.37:g.59012735A>T	ENSP00000263093:p.Phe367Tyr					SLC27A5_ENST00000601355.1_Missense_Mutation_p.F283Y	p.F367Y	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	4	1209	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	367					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1100T>A	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475268	0.84640	.	.	ENSG00000083807	ENST00000263093	T	0.42900	0.96	4.9	3.87	0.44632	AMP-dependent synthetase/ligase (1);	0.110859	0.64402	N	0.000008	T	0.47655	0.1457	M	0.64676	1.99	0.34566	D	0.712878	P	0.35944	0.529	P	0.46585	0.521	T	0.58885	-0.7557	10	0.45353	T	0.12	-23.1816	8.258	0.31769	0.8237:0.0:0.0:0.1763	.	367	Q9Y2P5	S27A5_HUMAN	Y	367	ENSP00000263093:F367Y	ENSP00000263093:F367Y	F	-	2	0	SLC27A5	63704547	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	6.172000	0.71932	0.795000	0.33922	0.460000	0.39030	TTC		0.532	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		22	49	22	49	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47987298	47987298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr21:47987298G>A	ENST00000417564.2	+	38	4500	c.4479G>A	c.(4477-4479)tgG>tgA	p.W1493*	DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000400274.1_Nonsense_Mutation_p.W1489*|DIP2A_ENST00000318711.7_Nonsense_Mutation_p.W1494*			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1493					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TATTCACCTGGACCAACCTGC	0.592																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(4480-4482)tgG>tgA		DIP2 disco-interacting protein 2 homolog A (Drosophila)							86.0	91.0	90.0					21																	47987298		2203	4300	6503	SO:0001587	stop_gained	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47987298G>A	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4479G>A	21.37:g.47987298G>A	ENSP00000392066:p.Trp1493*					DIP2A_ENST00000400274.1_Nonsense_Mutation_p.W1489*|DIP2A_ENST00000417564.2_Nonsense_Mutation_p.W1493*|DIP2A_ENST00000479654.1_3'UTR	p.W1494*	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	38	4665	+	Breast(49;0.0933)		1493					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Nonsense_Mutation	SNP	ENST00000417564.2	37	c.4482G>A	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	46	12.724119	0.99691	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8398	19.0426	0.93006	0.0:0.0:1.0:0.0	.	.	.	.	X	1489;1494;1493	.	ENSP00000323633:W1494X	W	+	3	0	DIP2A	46811726	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.627000	0.98412	2.748000	0.94277	0.655000	0.94253	TGG		0.592	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		18	79	18	79	---	---	---	---
MID1	4281	broad.mit.edu	37	X	10417583	10417583	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chrX:10417583T>C	ENST00000317552.4	-	10	2229	c.1829A>G	c.(1828-1830)tAt>tGt	p.Y610C	MID1_ENST00000380779.1_Missense_Mutation_p.Y610C|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Missense_Mutation_p.Y610C|MID1_ENST00000380780.1_Missense_Mutation_p.Y610C|MID1_ENST00000380785.1_Missense_Mutation_p.Y610C|MID1_ENST00000380787.1_Missense_Mutation_p.Y610C	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	610	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCGTTATCATAGTCCAGCAG	0.557																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1828-1830)tAt>tGt		midline 1 (Opitz/BBB syndrome)							125.0	94.0	105.0					X																	10417583		2203	4300	6503	SO:0001583	missense	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10417583T>C	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1829A>G	X.37:g.10417583T>C	ENSP00000312678:p.Tyr610Cys					MID1_ENST00000453318.2_Missense_Mutation_p.Y610C|MID1_ENST00000380780.1_Missense_Mutation_p.Y610C|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380787.1_Missense_Mutation_p.Y610C|MID1_ENST00000380785.1_Missense_Mutation_p.Y610C|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.Y610C	p.Y610C	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			10	2229	-			610			B30.2/SPRY.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1829A>G	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468139	0.63625	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000454373	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	L	0.52573	1.65	0.80722	D	1	P;P;P	0.40066	0.701;0.569;0.557	P;P;P	0.53912	0.737;0.599;0.617	T	0.63739	-0.6569	10	0.18276	T	0.48	.	14.7167	0.69275	0.0:0.0:0.0:1.0	.	610;610;560	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	C	610;610;610;610;610;610;560	ENSP00000414521:Y610C;ENSP00000312678:Y610C;ENSP00000370162:Y610C;ENSP00000370156:Y610C;ENSP00000370164:Y610C;ENSP00000370157:Y610C	ENSP00000312678:Y610C	Y	-	2	0	MID1	10377583	1.000000	0.71417	0.977000	0.42913	0.785000	0.44390	7.538000	0.82048	1.857000	0.53885	0.345000	0.21793	TAT		0.557	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			29	15	29	15	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135593232	135593232	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chrX:135593232G>A	ENST00000218364.4	+	9	1502	c.1328G>A	c.(1327-1329)gGt>gAt	p.G443D	HTATSF1_ENST00000535601.1_Missense_Mutation_p.G443D	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	443	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TTTGAAGAAGGTGCTTCTGAA	0.428																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(1327-1329)gGt>gAt		HIV-1 Tat specific factor 1							91.0	101.0	97.0					X																	135593232		2202	4299	6501	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593232G>A	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1328G>A	X.37:g.135593232G>A	ENSP00000218364:p.Gly443Asp					HTATSF1_ENST00000218364.4_Missense_Mutation_p.G443D	p.G443D	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			10	1750	+	Acute lymphoblastic leukemia(192;0.000127)		443			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.1328G>A	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.459679	0.01062	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.19669	2.13;2.13	5.49	-3.36	0.04913	.	1.339880	0.04254	N	0.339135	T	0.06872	0.0175	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31806	-0.9930	10	0.08179	T	0.78	-1.0468	6.1437	0.20273	0.4184:0.2494:0.3322:0.0	.	443	O43719	HTSF1_HUMAN	D	443	ENSP00000442699:G443D;ENSP00000218364:G443D	ENSP00000218364:G443D	G	+	2	0	HTATSF1	135420898	0.001000	0.12720	0.048000	0.18961	0.705000	0.40729	0.220000	0.17660	-0.580000	0.05944	-0.529000	0.04317	GGT		0.428	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		3	53	3	53	---	---	---	---
CDC20	991	broad.mit.edu	37	1	43825955	43825955	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:43825955delC	ENST00000372462.1	+	5	851	c.648delC	c.(646-648)atcfs	p.I216fs	CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Frame_Shift_Del_p.I216fs|RP1-92O14.3_ENST00000424948.1_RNA			Q12834	CDC20_HUMAN	cell division cycle 20	216					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGGTGACATCCTGCAGCTTT	0.537																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)	ENST00000372462.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(646-648)atcfs		cell division cycle 20							132.0	129.0	130.0					1																	43825955		2203	4300	6503	SO:0001589	frameshift_variant	991				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	g.chr1:43825955delC	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.648delC	1.37:g.43825955delC	ENSP00000361540:p.Ile216fs					CDC20_ENST00000310955.6_Frame_Shift_Del_p.I216fs|CDC20_ENST00000478882.1_3'UTR	p.I216fs			Q12834	CDC20_HUMAN			5	851	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	216					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Frame_Shift_Del	DEL	ENST00000372462.1	37	c.648delC	CCDS484.1																																																																																				0.537	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		26	46	26	46	---	---	---	---
NSL1	25936	broad.mit.edu	37	1	212964929	212964930	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:212964929_212964930insTT	ENST00000366977.3	-	1	194_195	c.176_177insAA	c.(175-177)aagfs	p.K59fs	TATDN3_ENST00000526997.1_5'Flank|TATDN3_ENST00000366973.4_5'Flank|NSL1_ENST00000366975.6_Frame_Shift_Ins_p.K59fs|NSL1_ENST00000366976.1_Frame_Shift_Ins_p.K59fs|TATDN3_ENST00000366974.4_5'Flank|TATDN3_ENST00000530441.1_5'Flank|NSL1_ENST00000366978.1_5'Flank|TATDN3_ENST00000526641.1_5'Flank|NSL1_ENST00000422588.2_Frame_Shift_Ins_p.K59fs|NSL1_ENST00000473995.1_5'UTR|TATDN3_ENST00000531963.1_5'Flank|TATDN3_ENST00000532324.1_5'Flank	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	59					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		CGTCCCCGAGCTTTTGCACGAA	0.609																																						ENST00000366977.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(175-177)aagfs		NSL1, MIS12 kinetochore complex component																																				SO:0001589	frameshift_variant	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212964929_212964930insTT	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.175_176dupAA	1.37:g.212964932_212964933dupTT	ENSP00000355944:p.Lys59fs					NSL1_ENST00000366975.6_Frame_Shift_Ins_p.K59fs|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000422588.2_Frame_Shift_Ins_p.K59fs|NSL1_ENST00000366976.1_Frame_Shift_Ins_p.K59fs	p.K59fs	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	1	194_195	-			59					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Frame_Shift_Ins	INS	ENST00000366977.3	37	c.176_177insAA	CCDS1509.1																																																																																				0.609	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		32	165	32	165	---	---	---	---
FBXO38	81545	broad.mit.edu	37	5	147803625	147803626	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr5:147803625_147803626insA	ENST00000340253.5	+	13	1851_1852	c.1683_1684insA	c.(1684-1686)actfs	p.T562fs	FBXO38_ENST00000513826.1_Frame_Shift_Ins_p.T562fs|FBXO38_ENST00000296701.6_Frame_Shift_Ins_p.T562fs|FBXO38_ENST00000394370.3_Frame_Shift_Ins_p.T562fs			Q6PIJ6	FBX38_HUMAN	F-box protein 38	562					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAAATAATACTCCAGCTCA	0.426																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(1684-1686)actfs		F-box protein 38																																				SO:0001589	frameshift_variant	81545					cytoplasm|nucleus		g.chr5:147803625_147803626insA	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1684dupA	5.37:g.147803626_147803626dupA	ENSP00000342023:p.Thr562fs					FBXO38_ENST00000394370.3_Frame_Shift_Ins_p.T562fs|FBXO38_ENST00000513826.1_Frame_Shift_Ins_p.T562fs|FBXO38_ENST00000296701.6_Frame_Shift_Ins_p.T562fs	p.T562fs			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1851_1852	+			562					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Frame_Shift_Ins	INS	ENST00000340253.5	37	c.1683_1684insA																																																																																					0.426	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		36	44	36	44	---	---	---	---
