#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LTBP1	4052	broad.mit.edu	37	2	33567941	33567941	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr2:33567941G>A	ENST00000404816.2	+	25	4120	c.3767G>A	c.(3766-3768)aGt>aAt	p.S1256N	LTBP1_ENST00000354476.3_Missense_Mutation_p.S1257N|LTBP1_ENST00000402934.1_Missense_Mutation_p.S877N|LTBP1_ENST00000407925.1_Missense_Mutation_p.S930N|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000404525.1_Missense_Mutation_p.S877N|LTBP1_ENST00000390003.4_Missense_Mutation_p.S931N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1256	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTTTGTGACAGTCACGGGTTT	0.443																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(3766-3768)aGt>aAt		latent transforming growth factor beta binding protein 1							168.0	143.0	152.0					2																	33567941		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33567941G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3767G>A	2.37:g.33567941G>A	ENSP00000386043:p.Ser1256Asn					LTBP1_ENST00000354476.3_Missense_Mutation_p.S1257N|LTBP1_ENST00000390003.4_Missense_Mutation_p.S931N|LTBP1_ENST00000404525.1_Missense_Mutation_p.S877N|LTBP1_ENST00000402934.1_Missense_Mutation_p.S877N|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000407925.1_Missense_Mutation_p.S930N	p.S1256N			Q14766	LTBP1_HUMAN			25	4120	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1256			EGF-like 13; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3767G>A	CCDS33177.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.03|11.03	1.517690|1.517690	0.27123|0.27123	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000402934;ENST00000404525;ENST00000407925|ENST00000415140	D;D;D;D;D;D|.	0.92099|.	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97|.	5.91|5.91	3.01|3.01	0.34805|0.34805	.|.	.|.	.|.	.|.	.|.	T|T	0.30479|0.30479	0.0766|0.0766	N|N	0.10837|0.10837	0.055|0.055	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.12013|.	0.0;0.003;0.003;0.005|.	B;B;B;B|.	0.15870|.	0.004;0.005;0.008;0.014|.	T|T	0.03651|0.03651	-1.1016|-1.1016	9|5	0.37606|.	T|.	0.19|.	.|.	5.7451|5.7451	0.18116|0.18116	0.0625:0.2241:0.4821:0.2313|0.0625:0.2241:0.4821:0.2313	.|.	877;930;931;1257|.	Q14766-3;Q14766-2;Q14766-5;Q14766-4|.	.;.;.;.|.	N|I	1256;1257;931;877;877;930|218	ENSP00000386043:S1256N;ENSP00000346467:S1257N;ENSP00000374653:S931N;ENSP00000384373:S877N;ENSP00000385359:S877N;ENSP00000384091:S930N|.	ENSP00000346467:S1257N|.	S|V	+|+	2|1	0|0	LTBP1|LTBP1	33421445|33421445	0.996000|0.996000	0.38824|0.38824	0.945000|0.945000	0.38365|0.38365	0.997000|0.997000	0.91878|0.91878	1.188000|1.188000	0.32102|0.32102	0.344000|0.344000	0.23847|0.23847	0.557000|0.557000	0.71058|0.71058	AGT|GTC		0.443	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		7	50	0	0	0	1	0	7	50				
ZBTB34	403341	broad.mit.edu	37	9	129642399	129642399	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr9:129642399A>C	ENST00000373452.2	+	1	773	c.709A>C	c.(709-711)Aag>Cag	p.K237Q	ZBTB34_ENST00000319119.4_Missense_Mutation_p.K241Q			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GGTGAAAGTGAAGATGGAGAA	0.547																																						ENST00000319119.4																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(721-723)Aag>Cag		zinc finger and BTB domain containing 34							102.0	110.0	107.0					9																	129642399		2039	4169	6208	SO:0001583	missense	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129642399A>C	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.709A>C	9.37:g.129642399A>C	ENSP00000362551:p.Lys237Gln					ZBTB34_ENST00000373452.2_Missense_Mutation_p.K237Q	p.K241Q	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN			2	806	+			237					Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	c.721A>C	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299820	0.81136	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.12984	2.63;2.64	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.24275	0.0588	L	0.27053	0.805	0.58432	D	0.999997	D	0.71674	0.998	D	0.73708	0.981	T	0.02526	-1.1146	10	0.31617	T	0.26	.	15.682	0.77376	1.0:0.0:0.0:0.0	.	237	Q8NCN2	ZBT34_HUMAN	Q	241;237	ENSP00000317534:K241Q;ENSP00000362551:K237Q	ENSP00000317534:K241Q	K	+	1	0	ZBTB34	128682220	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.601000	0.90864	2.160000	0.67779	0.533000	0.62120	AAG		0.547	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		6	67	0	0	0	1	0	6	67				
GDI2	2665	broad.mit.edu	37	10	5827219	5827219	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr10:5827219C>T	ENST00000380191.4	-	6	895	c.605G>A	c.(604-606)tGt>tAt	p.C202Y	GDI2_ENST00000380181.3_Missense_Mutation_p.C157Y|GDI2_ENST00000380132.4_Missense_Mutation_p.C206Y	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	202					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						GGTTTCATAACACGGTTGATC	0.348																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(604-606)tGt>tAt		GDP dissociation inhibitor 2							86.0	91.0	89.0					10																	5827219		2203	4300	6503	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5827219C>T	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.605G>A	10.37:g.5827219C>T	ENSP00000369538:p.Cys202Tyr					GDI2_ENST00000380181.3_Missense_Mutation_p.C157Y|GDI2_ENST00000380132.4_Missense_Mutation_p.C206Y	p.C202Y	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN			6	895	-			202					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.605G>A	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018677	0.54576	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000447751;ENST00000380132;ENST00000380181;ENST00000456041	D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.90456	0.7011	M	0.71581	2.175	0.80722	D	1	B;B;B	0.31383	0.321;0.049;0.142	B;B;B	0.42851	0.4;0.111;0.18	D	0.90037	0.4139	10	0.72032	D	0.01	-10.6383	19.0435	0.93011	0.0:1.0:0.0:0.0	.	206;157;202	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	Y	202;35;30;206;157;192	ENSP00000369538:C202Y;ENSP00000387565:C30Y;ENSP00000369475:C206Y;ENSP00000369528:C157Y;ENSP00000401733:C192Y	ENSP00000369475:C206Y	C	-	2	0	GDI2	5867225	1.000000	0.71417	0.995000	0.50966	0.658000	0.38924	7.630000	0.83225	2.672000	0.90937	0.591000	0.81541	TGT		0.348	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		6	87	0	0	0	1	0	6	87				
NPY2R	4887	broad.mit.edu	37	4	156135481	156135481	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr4:156135481G>T	ENST00000329476.3	+	2	879	c.390G>T	c.(388-390)caG>caT	p.Q130H	NPY2R_ENST00000506608.1_Missense_Mutation_p.Q130H	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	130					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	CCTATGCCCAGGGCCTGGCAG	0.522																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(388-390)caG>caT		neuropeptide Y receptor Y2							62.0	61.0	61.0					4																	156135481		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135481G>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.390G>T	4.37:g.156135481G>T	ENSP00000332591:p.Gln130His					NPY2R_ENST00000506608.1_Missense_Mutation_p.Q130H	p.Q130H	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	879	+	all_hematologic(180;0.24)	Renal(120;0.0854)	130					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.390G>T	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256235	0.59321	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.37915	1.17;1.17	5.44	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.62572	-0.6826	10	0.87932	D	0	.	8.6249	0.33883	0.2174:0.0:0.7826:0.0	.	130	P49146	NPY2R_HUMAN	H	130	ENSP00000332591:Q130H;ENSP00000426366:Q130H	ENSP00000332591:Q130H	Q	+	3	2	NPY2R	156354931	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.397000	0.44477	2.709000	0.92574	0.643000	0.83706	CAG		0.522	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		8	56	1	0	0.0381472	1	0.0430023	8	56				
CCDC148	130940	broad.mit.edu	37	2	159170404	159170404	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr2:159170404T>C	ENST00000283233.5	-	8	1080	c.767A>G	c.(766-768)aAc>aGc	p.N256S	CCDC148_ENST00000536771.1_Missense_Mutation_p.N170S|CCDC148_ENST00000409187.1_Missense_Mutation_p.N265S	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	256										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TAGTTGACAGTTTCTAGAAGC	0.388																																						ENST00000283233.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(766-768)aAc>aGc		coiled-coil domain containing 148							85.0	84.0	84.0					2																	159170404		2203	4300	6503	SO:0001583	missense	130940							g.chr2:159170404T>C		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.767A>G	2.37:g.159170404T>C	ENSP00000283233:p.Asn256Ser					CCDC148_ENST00000409187.1_Missense_Mutation_p.N265S|CCDC148_ENST00000536771.1_Missense_Mutation_p.N170S	p.N256S	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN			8	1080	-			256					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.767A>G	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	T	9.856	1.194997	0.22037	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187;ENST00000536771	T;T;T	0.32023	1.86;1.86;1.47	5.35	5.35	0.76521	.	.	.	.	.	T	0.39009	0.1062	M	0.69823	2.125	0.41614	D	0.988929	D;P;P;P;P	0.55385	0.971;0.835;0.835;0.799;0.799	P;B;B;B;B	0.48270	0.572;0.352;0.435;0.275;0.38	T	0.27020	-1.0086	9	0.20046	T	0.44	-6.8564	13.2892	0.60262	0.0:0.0:0.0:1.0	.	170;104;104;265;256	F5H839;C9JR76;Q8NFR7-2;B8ZZV3;Q8NFR7	.;.;.;.;CC148_HUMAN	S	256;104;265;170	ENSP00000283233:N256S;ENSP00000386674:N265S;ENSP00000443740:N170S	ENSP00000283233:N256S	N	-	2	0	CCDC148	158878650	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.962000	0.49176	2.037000	0.60232	0.460000	0.39030	AAC		0.388	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		4	55	0	0	0	1	0	4	55				
TTF1	7270	broad.mit.edu	37	9	135277018	135277018	+	Silent	SNP	G	G	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr9:135277018G>A	ENST00000334270.2	-	2	1230	c.1191C>T	c.(1189-1191)gtC>gtT	p.V397V		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	397					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GTGCCCTTTTGACAGACGTAA	0.463																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1189-1191)gtC>gtT		transcription termination factor, RNA polymerase I							225.0	184.0	198.0					9																	135277018		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277018G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1191C>T	9.37:g.135277018G>A							p.V397V	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1230	-		Myeloproliferative disorder(178;0.204)	397					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.1191C>T	CCDS6948.1																																																																																				0.463	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		8	100	0	0	0	1	0	8	100				
ANKRD39	51239	broad.mit.edu	37	2	97514153	97514153	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr2:97514153C>T	ENST00000393537.4	-	4	544	c.437G>A	c.(436-438)tGc>tAc	p.C146Y		NM_016466.5	NP_057550.3	Q53RE8	ANR39_HUMAN	ankyrin repeat domain 39	146										NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	6						GAGGAGGGAGCAGATGTCCCC	0.607																																						ENST00000393537.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	6						c.(436-438)tGc>tAc		ankyrin repeat domain 39							87.0	76.0	80.0					2																	97514153		2203	4300	6503	SO:0001583	missense	51239							g.chr2:97514153C>T	BC031303	CCDS2028.1	2q11.2	2013-01-10			ENSG00000213337	ENSG00000213337		"""Ankyrin repeat domain containing"""	28640	protein-coding gene	gene with protein product						11042152	Standard	NM_016466		Approved	MGC41816	uc002sxd.4	Q53RE8	OTTHUMG00000130530	ENST00000393537.4:c.437G>A	2.37:g.97514153C>T	ENSP00000377170:p.Cys146Tyr						p.C146Y	NM_016466.5	NP_057550.3	Q53RE8	ANR39_HUMAN			4	544	-			146					Q59FU2|Q8N5X5|Q9P0S5	Missense_Mutation	SNP	ENST00000393537.4	37	c.437G>A	CCDS2028.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252100	0.80135	.	.	ENSG00000213337	ENST00000393537	T	0.64085	-0.08	5.52	5.52	0.82312	Ankyrin repeat-containing domain (4);	0.000000	0.85682	U	0.000000	T	0.69142	0.3078	L	0.27053	0.805	0.58432	D	0.999991	D	0.76494	0.999	D	0.74348	0.983	T	0.72357	-0.4318	10	0.72032	D	0.01	-18.5025	16.426	0.83814	0.0:1.0:0.0:0.0	.	146	Q53RE8	ANR39_HUMAN	Y	146	ENSP00000377170:C146Y	ENSP00000377170:C146Y	C	-	2	0	ANKRD39	96877880	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	5.273000	0.65564	2.626000	0.88956	0.585000	0.79938	TGC		0.607	ANKRD39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252951.2	NM_016466		8	49	0	0	0	1	0	8	49				
CYP2D6	1565	broad.mit.edu	37	22	42525788	42525788	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr22:42525788G>A	ENST00000360608.5	-	2	418	c.304C>T	c.(304-306)Ccg>Tcg	p.P102S	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.P102S|CYP2D6_ENST00000359033.4_Missense_Mutation_p.P102S|NDUFA6-AS1_ENST00000608288.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	102					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GGCACAGGCGGGCGGTCGGCG	0.697																																						ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(304-306)Ccg>Tcg		cytochrome P450, family 2, subfamily D, polypeptide 6							19.0	22.0	21.0					22																	42525788		2186	4277	6463	SO:0001583	missense	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42525788G>A	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.304C>T	22.37:g.42525788G>A	ENSP00000353820:p.Pro102Ser					CYP2D6_ENST00000389970.3_Missense_Mutation_p.P102S|CYP2D6_ENST00000359033.4_Missense_Mutation_p.P102S|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA	p.P102S	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN			2	418	-			102					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.304C>T	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.425460	0.83667	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.80994	-1.44;-1.44;4.9	3.46	3.46	0.39613	.	0.000000	0.64402	D	0.000001	D	0.90456	0.7011	M	0.89715	3.055	0.80722	D	1	P;D	0.89917	0.933;1.0	D;D	0.71870	0.91;0.975	D	0.92425	0.5949	10	0.66056	D	0.02	.	14.6963	0.69124	0.0:0.0:1.0:0.0	.	102;102	Q6NXU8;Q6NWU0	.;.	S	102;102;51;102;102	ENSP00000353820:P102S;ENSP00000374620:P102S;ENSP00000351927:P102S	ENSP00000351927:P102S	P	-	1	0	CYP2D6	40855732	0.997000	0.39634	0.713000	0.30519	0.042000	0.13812	2.843000	0.48238	2.218000	0.71995	0.484000	0.47621	CCG		0.697	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			3	29	0	0	0	1	0	3	29				
ETAA1	54465	broad.mit.edu	37	2	67626364	67626364	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr2:67626364C>G	ENST00000272342.5	+	2	417	c.287C>G	c.(286-288)cCt>cGt	p.P96R		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	96						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTCAGTTCTCCTAATGATCCA	0.318																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(286-288)cCt>cGt		Ewing tumor-associated antigen 1							72.0	70.0	71.0					2																	67626364		2203	4300	6503	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67626364C>G	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.287C>G	2.37:g.67626364C>G	ENSP00000272342:p.Pro96Arg						p.P96R	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			2	417	+			96					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.287C>G	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157060	0.78114	.	.	ENSG00000143971	ENST00000272342	T	0.40756	1.02	5.42	5.42	0.78866	.	0.056811	0.64402	D	0.000001	T	0.66346	0.2780	M	0.73962	2.25	0.41776	D	0.989795	D	0.89917	1.0	D	0.97110	1.0	T	0.68678	-0.5345	10	0.56958	D	0.05	-1.601	18.2253	0.89915	0.0:1.0:0.0:0.0	.	96	Q9NY74	ETAA1_HUMAN	R	96	ENSP00000272342:P96R	ENSP00000272342:P96R	P	+	2	0	ETAA1	67479868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.090000	0.64498	2.539000	0.85634	0.650000	0.86243	CCT		0.318	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		5	40	0	0	0	1	0	5	40				
CARD11	84433	broad.mit.edu	37	7	2984095	2984095	+	Silent	SNP	C	C	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr7:2984095C>T	ENST00000396946.4	-	5	838	c.435G>A	c.(433-435)aaG>aaA	p.K145K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	145					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTTGCAGGTCCTTGGCCTTCA	0.617			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(433-435)aaG>aaA		caspase recruitment domain family, member 11							94.0	86.0	89.0					7																	2984095		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2984095C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.435G>A	7.37:g.2984095C>T						AC004906.3_ENST00000423194.1_RNA	p.K145K	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	838	-		Ovarian(82;0.0115)	145					A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.435G>A	CCDS5336.2																																																																																				0.617	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		7	72	0	0	0	1	0	7	72				
FMN2	56776	broad.mit.edu	37	1	240371373	240371373	+	Silent	SNP	A	A	T	rs199766654	byFrequency	TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr1:240371373A>T	ENST00000319653.9	+	5	3491	c.3261A>T	c.(3259-3261)ccA>ccT	p.P1087P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1087	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCATACCCCCACCTCCCCCTC	0.726																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3259-3261)ccA>ccT		formin 2							4.0	5.0	4.0					1																	240371373		1745	3543	5288	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371373A>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3261A>T	1.37:g.240371373A>T							p.P1087P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3491	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1087			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3261A>T	CCDS31069.2																																																																																				0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		3	9	0	0	0	1	0	3	9				
EPSTI1	94240	broad.mit.edu	37	13	43500540	43500540	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr13:43500540G>T	ENST00000398762.3	-	7	588	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	EPSTI1_ENST00000313624.7_Missense_Mutation_p.L197M|EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313640.7_Missense_Mutation_p.L197M			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	197										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TCTGTGTTCAGTTTGCTCAAG	0.428																																						ENST00000313640.7																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17						c.(589-591)Ctg>Atg		epithelial stromal interaction 1 (breast)							242.0	229.0	233.0					13																	43500540		2203	4300	6503	SO:0001583	missense	94240							g.chr13:43500540G>T	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.589C>A	13.37:g.43500540G>T	ENSP00000381746:p.Leu197Met					EPSTI1_ENST00000313624.7_Missense_Mutation_p.L197M|EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000398762.3_Missense_Mutation_p.L197M	p.L197M	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	7	653	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	197					Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	37	c.589C>A	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.691286	0.30052	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762;ENST00000537828	T	0.21932	1.98	5.06	3.17	0.36434	.	0.206952	0.31821	N	0.007006	T	0.17492	0.0420	L	0.50333	1.59	0.25817	N	0.984324	P;P	0.52061	0.944;0.95	B;B	0.43301	0.415;0.324	T	0.12502	-1.0545	10	0.40728	T	0.16	-2.8414	4.4018	0.11390	0.1932:0.0:0.6311:0.1757	.	197;197	Q96J88-2;Q96J88-3	.;.	M	197;197;197;70	ENSP00000318982:L197M	ENSP00000318643:L197M	L	-	1	2	EPSTI1	42398540	0.999000	0.42202	0.892000	0.35008	0.078000	0.17371	0.638000	0.24674	0.695000	0.31675	0.655000	0.94253	CTG		0.428	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		8	132	1	0	1.12685e-05	1	1.42581e-05	8	132				
GABRA2	2555	broad.mit.edu	37	4	46307679	46307679	+	Silent	SNP	A	A	G			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr4:46307679A>G	ENST00000510861.1	-	7	782	c.609T>C	c.(607-609)tcT>tcC	p.S203S	GABRA2_ENST00000356504.1_Silent_p.S203S|GABRA2_ENST00000514090.1_Silent_p.S203S|GABRA2_ENST00000515082.1_Silent_p.S203S|GABRA2_ENST00000381620.4_Silent_p.S203S|GABRA2_ENST00000540012.1_Silent_p.S148S|GABRA2_ENST00000507069.1_Silent_p.S203S			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	203					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTACTGAATCAGATGCATTGT	0.358																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(607-609)tcT>tcC		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						108.0	108.0	108.0					4																	46307679		2203	4300	6503	SO:0001819	synonymous_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46307679A>G		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.609T>C	4.37:g.46307679A>G						GABRA2_ENST00000356504.1_Silent_p.S203S|GABRA2_ENST00000507069.1_Silent_p.S203S|GABRA2_ENST00000540012.1_Silent_p.S148S|GABRA2_ENST00000381620.4_Silent_p.S203S|GABRA2_ENST00000514090.1_Silent_p.S203S|GABRA2_ENST00000515082.1_Silent_p.S203S	p.S203S			P47869	GBRA2_HUMAN			7	782	-			203					A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	37	c.609T>C	CCDS3471.1																																																																																				0.358	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			4	49	0	0	0	1	0	4	49				
NIPBL	25836	broad.mit.edu	37	5	36985988	36985988	+	Silent	SNP	A	A	G			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr5:36985988A>G	ENST00000282516.8	+	10	3205	c.2706A>G	c.(2704-2706)aaA>aaG	p.K902K	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.K902K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	902					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTCTAATAAATCAAGATCTG	0.393																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(2704-2706)aaA>aaG		Nipped-B homolog (Drosophila)							52.0	55.0	54.0					5																	36985988		2203	4300	6503	SO:0001819	synonymous_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36985988A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2706A>G	5.37:g.36985988A>G						NIPBL_ENST00000448238.2_Silent_p.K902K|NIPBL_ENST00000504430.1_3'UTR	p.K902K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	3205	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		902					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.2706A>G	CCDS3920.1																																																																																				0.393	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		5	52	0	0	0	1	0	5	52				
PMFBP1	83449	broad.mit.edu	37	16	72159281	72159281	+	Silent	SNP	T	T	G			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr16:72159281T>G	ENST00000237353.10	-	16	2538	c.2277A>C	c.(2275-2277)acA>acC	p.T759T	PMFBP1_ENST00000537792.1_5'Flank|PMFBP1_ENST00000355636.6_Silent_p.T614T|PMFBP1_ENST00000537465.1_Silent_p.T764T	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	764						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCAGGCTCTTTGTCTCTGAGG	0.483											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(2290-2292)acA>acC		polyamine modulated factor 1 binding protein 1							197.0	194.0	195.0					16																	72159281		2198	4300	6498	SO:0001819	synonymous_variant	83449							g.chr16:72159281T>G	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2277A>C	16.37:g.72159281T>G			OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	PMFBP1_ENST00000355636.6_Silent_p.T614T|PMFBP1_ENST00000237353.10_Silent_p.T759T	p.T764T			Q8TBY8	PMFBP_HUMAN			16	2450	-		Ovarian(137;0.179)	764					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	ENST00000237353.10	37	c.2292A>C	CCDS32483.1																																																																																				0.483	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		12	181	0	0	0	1	0	12	181				
ZSCAN21	7589	broad.mit.edu	37	7	99662274	99662274	+	3'UTR	SNP	A	A	C			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr7:99662274A>C	ENST00000292450.4	+	0	1620				ZSCAN21_ENST00000456748.2_Nonstop_Mutation_p.*451Y|ZSCAN21_ENST00000543588.1_Nonstop_Mutation_p.*451Y|ZNF3_ENST00000413658.2_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21						positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CGTTGTTTTAAACTTTAGAAT	0.453																																						ENST00000543588.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(1351-1353)taA>taC		zinc finger and SCAN domain containing 21							45.0	47.0	46.0					7																	99662274		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99662274A>C	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.*34A>C	7.37:g.99662274A>C						ZSCAN21_ENST00000292450.4_3'UTR|ZSCAN21_ENST00000456748.2_Nonstop_Mutation_p.*451Y|ZNF3_ENST00000413658.2_3'UTR	p.*451Y			Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	1597	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		0					A4D2A6|D6W5T9|Q9H0B5	Nonstop_Mutation	SNP	ENST00000292450.4	37	c.1353A>C	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	A	8.229	0.804152	0.16467	.	.	ENSG00000166529	ENST00000543588;ENST00000456748	.	.	.	3.43	2.25	0.28309	.	.	.	.	.	.	.	.	.	.	.	0.38524	D	0.948808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5503	0.27793	0.8084:0.0:0.0:0.1916	.	.	.	.	Y	451	.	.	X	+	3	2	ZSCAN21	99500210	0.000000	0.05858	0.038000	0.18304	0.103000	0.19146	0.107000	0.15375	0.693000	0.31634	0.459000	0.35465	TAA		0.453	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		3	43	0	0	0	1	0	3	43				
ZNF366	167465	broad.mit.edu	37	5	71739939	71739939	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr5:71739939C>T	ENST00000318442.5	-	5	2369	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	627	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGCTCCACCTCGTAGCAGTTA	0.667																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1879-1881)Gag>Aag		zinc finger protein 366							96.0	110.0	105.0					5																	71739939		2203	4300	6503	SO:0001583	missense	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739939C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1879G>A	5.37:g.71739939C>T	ENSP00000313158:p.Glu627Lys						p.E627K	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2369	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	627					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1879G>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030953	0.75504	.	.	ENSG00000178175	ENST00000318442	T	0.08984	3.03	5.78	5.78	0.91487	.	0.162606	0.43416	D	0.000572	T	0.06325	0.0163	L	0.32530	0.975	0.41074	D	0.985473	P	0.42161	0.772	B	0.27887	0.084	T	0.18903	-1.0322	10	0.62326	D	0.03	-34.0917	13.5635	0.61804	0.0:0.9289:0.0:0.0711	.	627	Q8N895	ZN366_HUMAN	K	627	ENSP00000313158:E627K	ENSP00000313158:E627K	E	-	1	0	ZNF366	71775695	0.998000	0.40836	0.139000	0.22197	0.229000	0.25112	4.141000	0.58038	2.894000	0.99253	0.655000	0.94253	GAG		0.667	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			7	120	0	0	0	1	0	7	120				
CWF19L2	143884	broad.mit.edu	37	11	107207333	107207333	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr11:107207333C>A	ENST00000282251.5	-	15	2336	c.2309G>T	c.(2308-2310)tGt>tTt	p.C770F		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	770							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AAGAGGAATACATTCATAAAC	0.328																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(2308-2310)tGt>tTt		CWF19-like 2, cell cycle control (S. pombe)							109.0	109.0	109.0					11																	107207333		2201	4296	6497	SO:0001583	missense	143884						catalytic activity	g.chr11:107207333C>A	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2309G>T	11.37:g.107207333C>A	ENSP00000282251:p.Cys770Phe						p.C770F	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	15	2336	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	770					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.2309G>T	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268897	0.59540	.	.	ENSG00000152404	ENST00000282251;ENST00000409771	T	0.13089	2.62	5.72	5.72	0.89469	Histidine triad-like motif (1);Cwf19-like, C-terminal domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.44808	0.1311	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.41770	-0.9490	10	0.56958	D	0.05	-10.8303	18.8633	0.92281	0.0:1.0:0.0:0.0	.	770	Q2TBE0	C19L2_HUMAN	F	770;28	ENSP00000282251:C770F	ENSP00000282251:C770F	C	-	2	0	CWF19L2	106712543	1.000000	0.71417	0.950000	0.38849	0.183000	0.23260	7.789000	0.85783	2.695000	0.91970	0.655000	0.94253	TGT		0.328	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		4	23	1	0	0.00024832	1	0.000296074	4	23				
LGR5	8549	broad.mit.edu	37	12	71833921	71833921	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr12:71833921G>T	ENST00000266674.5	+	1	372	c.61G>T	c.(61-63)Ggg>Tgg	p.G21W	TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000540815.2_Missense_Mutation_p.G21W|LGR5_ENST00000536515.1_Missense_Mutation_p.G21W			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	21					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCTGGCGACCGGGGGCAGCTC	0.682																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(61-63)Ggg>Tgg		leucine-rich repeat containing G protein-coupled receptor 5							50.0	49.0	49.0					12																	71833921		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71833921G>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.61G>T	12.37:g.71833921G>T	ENSP00000266674:p.Gly21Trp					TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000536515.1_Missense_Mutation_p.G21W|LGR5_ENST00000540815.2_Missense_Mutation_p.G21W	p.G21W			O75473	LGR5_HUMAN			1	372	+			21					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.61G>T	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055526	0.55325	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.59364	0.34;0.27;0.41	4.7	2.71	0.32032	.	1.017350	0.07874	N	0.968371	T	0.50000	0.1590	N	0.08118	0	0.23802	N	0.996802	D;D	0.64830	0.994;0.99	P;P	0.56916	0.809;0.648	T	0.46105	-0.9215	10	0.66056	D	0.02	.	7.4339	0.27143	0.0984:0.1738:0.7278:0.0	.	21;21	O75473-2;O75473	.;LGR5_HUMAN	W	21	ENSP00000266674:G21W;ENSP00000443033:G21W;ENSP00000441035:G21W	ENSP00000266674:G21W	G	+	1	0	LGR5	70120188	0.891000	0.30450	0.983000	0.44433	0.651000	0.38670	1.937000	0.40193	2.325000	0.78763	0.561000	0.74099	GGG		0.682	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		3	43	1	0	0.115264	1	0.119106	3	43				
CNTNAP4	85445	broad.mit.edu	37	16	76556036	76556036	+	Silent	SNP	G	G	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr16:76556036G>A	ENST00000476707.1	+	16	2785	c.2646G>A	c.(2644-2646)gtG>gtA	p.V882V	CNTNAP4_ENST00000377504.4_Silent_p.V830V|CNTNAP4_ENST00000478060.1_Silent_p.V806V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Silent_p.V878V			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	879	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGCACCATGTGAGGGTTGAAA	0.527																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2632-2634)gtG>gtA		contactin associated protein-like 4							148.0	148.0	148.0					16																	76556036		2052	4228	6280	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76556036G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2646G>A	16.37:g.76556036G>A						CNTNAP4_ENST00000478060.1_Silent_p.V806V|CNTNAP4_ENST00000476707.1_Silent_p.V882V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.V830V	p.V878V	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			18	3019	+			879			Laminin G-like 3.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.2634G>A																																																																																					0.527	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		11	102	0	0	0	1	0	11	102				
PCDHA3	56145	broad.mit.edu	37	5	140182956	140182956	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr5:140182956C>A	ENST00000522353.2	+	1	2174	c.2174C>A	c.(2173-2175)gCg>gAg	p.A725E	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A725E|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	725					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGCTCCGCGCCGCCAACC	0.637																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(2173-2175)gCg>gAg									75.0	80.0	78.0					5																	140182956		2203	4300	6503	SO:0001583	missense	56145							g.chr5:140182956C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2174C>A	5.37:g.140182956C>A	ENSP00000429808:p.Ala725Glu					PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A725E|PCDHA2_ENST00000520672.2_Intron	p.A725E	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2174	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.2174C>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	6.159	0.397442	0.11638	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.80393	-1.37;-1.37	4.05	4.05	0.47172	.	0.620672	0.12972	U	0.424065	T	0.81302	0.4794	M	0.87381	2.88	0.09310	N	1	B;B	0.24426	0.103;0.03	B;B	0.27796	0.083;0.04	T	0.70472	-0.4862	10	0.30854	T	0.27	.	8.0422	0.30527	0.0:0.8126:0.0:0.1874	.	725;725	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	E	725	ENSP00000429808:A725E;ENSP00000434086:A725E	ENSP00000429808:A725E	A	+	2	0	PCDHA3	140163140	0.028000	0.19301	0.124000	0.21820	0.010000	0.07245	0.878000	0.28126	1.972000	0.57404	0.467000	0.42956	GCG		0.637	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		7	104	1	0	0.0381472	1	0.0430023	7	104				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	29	0	0	0	1	0	3	29				
AHNAK	79026	broad.mit.edu	37	11	62287901	62287901	+	Missense_Mutation	SNP	G	G	A	rs188789758		TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr11:62287901G>A	ENST00000378024.4	-	5	14262	c.13988C>T	c.(13987-13989)cCt>cTt	p.P4663L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4663					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGAAGCCAGGCATGCTGAA	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21170	0.0		0.0	False		,,,				2504	0.0					ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13987-13989)cCt>cTt		AHNAK nucleoprotein		G	LEU/PRO,	1,4403	2.1+/-5.4	0,1,2201	244.0	251.0	249.0		13988,	5.2	1.0	11		249	3,8595	3.0+/-9.4	0,3,4296	no	missense,intron	AHNAK	NM_001620.1,NM_024060.2	98,	0,4,6497	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging,	4663/5891,	62287901	4,12998	2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62287901G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13988C>T	11.37:g.62287901G>A	ENSP00000367263:p.Pro4663Leu					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P4663L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	14262	-		Melanoma(852;0.155)	4663					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13988C>T	CCDS31584.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.08	3.298944	0.60195	2.27E-4	3.49E-4	ENSG00000124942	ENST00000378024	T	0.03004	4.08	5.16	5.16	0.70880	.	0.137466	0.49305	D	0.000157	T	0.26484	0.0647	M	0.93420	3.415	0.48511	D	0.999661	D	0.65815	0.995	D	0.71184	0.972	T	0.20773	-1.0265	10	0.51188	T	0.08	-7.6355	17.4185	0.87507	0.0:0.0:1.0:0.0	.	4663	Q09666	AHNK_HUMAN	L	4663	ENSP00000367263:P4663L	ENSP00000367263:P4663L	P	-	2	0	AHNAK	62044477	1.000000	0.71417	0.991000	0.47740	0.888000	0.51559	6.957000	0.76019	2.397000	0.81536	0.549000	0.68633	CCT		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		9	322	0	0	0	1	0	9	322				
TAS2R30	259293	broad.mit.edu	37	12	11286073	11286073	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr12:11286073C>A	ENST00000539585.1	-	1	1170	c.771G>T	c.(769-771)aaG>aaT	p.K257N	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	257					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AGACAGGTTGCTTTTCCAGCC	0.388																																						ENST00000539585.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						c.(769-771)aaG>aaT		taste receptor, type 2, member 30							133.0	143.0	139.0					12																	11286073		2202	4299	6501	SO:0001583	missense	259293							g.chr12:11286073C>A	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.771G>T	12.37:g.11286073C>A	ENSP00000444736:p.Lys257Asn					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.K257N	NM_001097643.1	NP_001091112.1					1	1170	-								Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	c.771G>T	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-3.327820	0.00017	.	.	ENSG00000256188	ENST00000539585	T	0.00705	5.81	2.04	-4.08	0.03963	.	.	.	.	.	T	0.00241	0.0007	N	0.00885	-1.115	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41270	-0.9518	9	0.02654	T	1	.	0.9834	0.01441	0.4631:0.1751:0.1248:0.237	.	257	P59541	T2R30_HUMAN	N	257	ENSP00000444736:K257N	ENSP00000444736:K257N	K	-	3	2	TAS2R30	11177340	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.836000	0.00740	-3.707000	0.00118	-0.666000	0.03841	AAG		0.388	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		7	133	1	0	0.00198382	1	0.00232069	7	133				
WDR82	80335	broad.mit.edu	37	3	52304734	52304734	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr3:52304734T>C	ENST00000296490.3	-	2	534	c.253A>G	c.(253-255)Ata>Gta	p.I85V	MIRLET7G_ENST00000362280.1_RNA	NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	85					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TTACCGTCTATTTTGTTAGAG	0.378																																						ENST00000296490.3																			0											c.(253-255)Ata>Gta		WD repeat domain 82							218.0	195.0	202.0					3																	52304734		1857	4102	5959	SO:0001583	missense	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52304734T>C	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.253A>G	3.37:g.52304734T>C	ENSP00000296490:p.Ile85Val						p.I85V	NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	2	534	-			85					A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	37	c.253A>G	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	T	10.84	1.464366	0.26335	.	.	ENSG00000164091	ENST00000296490	T	0.17528	2.27	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.07863	0.0197	N	0.01874	-0.695	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.34900	-0.9810	10	0.23302	T	0.38	-20.6676	16.0699	0.80919	0.0:0.0:0.0:1.0	.	85	Q6UXN9	WDR82_HUMAN	V	85	ENSP00000296490:I85V	ENSP00000296490:I85V	I	-	1	0	WDR82	52279774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.960000	0.87893	2.195000	0.70347	0.528000	0.53228	ATA		0.378	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222		14	128	0	0	0	1	0	14	128				
RNF6	6049	broad.mit.edu	37	13	26788214	26788214	+	Missense_Mutation	SNP	C	C	A	rs368287151		TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr13:26788214C>A	ENST00000381588.4	-	5	2557	c.1805G>T	c.(1804-1806)cGa>cTa	p.R602L	RNF6_ENST00000346166.3_Missense_Mutation_p.R602L|RNF6_ENST00000381570.3_Missense_Mutation_p.R602L|RNF6_ENST00000399762.2_Missense_Mutation_p.R246L|RNF6_ENST00000468480.1_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	602					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ACCACGTATTCGATCATCATC	0.373																																						ENST00000381588.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(1804-1806)cGa>cTa		ring finger protein (C3H2C3 type) 6							155.0	148.0	150.0					13																	26788214		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26788214C>A	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1805G>T	13.37:g.26788214C>A	ENSP00000371000:p.Arg602Leu					RNF6_ENST00000399762.2_Missense_Mutation_p.R246L|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.R602L|RNF6_ENST00000346166.3_Missense_Mutation_p.R602L	p.R602L	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	2557	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	602					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.1805G>T	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651390	0.29336	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	T;T;T;T	0.15372	3.02;3.02;3.02;2.43	5.01	-5.83	0.02325	.	0.577552	0.18802	N	0.130754	T	0.08268	0.0206	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.08055	0.002;0.003	T	0.11275	-1.0594	10	0.46703	T	0.11	-0.0125	4.3338	0.11076	0.085:0.2005:0.2084:0.5061	.	246;602	B4DDP0;Q9Y252	.;RNF6_HUMAN	L	602;602;602;246	ENSP00000342121:R602L;ENSP00000371000:R602L;ENSP00000370982:R602L;ENSP00000382665:R246L	ENSP00000342121:R602L	R	-	2	0	RNF6	25686214	0.052000	0.20516	0.000000	0.03702	0.946000	0.59487	-0.159000	0.10056	-1.251000	0.02494	0.557000	0.71058	CGA		0.373	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		8	107	1	0	1.12685e-05	1	1.42581e-05	8	107				
FLG	2312	broad.mit.edu	37	1	152280000	152280000	+	Silent	SNP	C	C	T	rs144122917	byFrequency	TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr1:152280000C>T	ENST00000368799.1	-	3	7397	c.7362G>A	c.(7360-7362)acG>acA	p.T2454T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2454	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTTGGGACGTTGAGTGCC	0.577									Ichthyosis				C|||	2	0.000399361	0.0008	0.0	5008	,	,		21489	0.0		0.001	False		,,,				2504	0.0					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7360-7362)acG>acA		filaggrin		C		0,4406		0,0,2203	343.0	314.0	324.0		7362	-5.6	0.0	1	dbSNP_134	324	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	FLG	NM_002016.1		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		2454/4062	152280000	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280000C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7362G>A	1.37:g.152280000C>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.T2454T	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7397	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2454			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.7362G>A	CCDS30860.1																																																																																				0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		13	397	0	0	0	1	0	13	397				
PGLYRP2	114770	broad.mit.edu	37	19	15587145	15587145	+	Silent	SNP	C	C	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr19:15587145C>T	ENST00000340880.4	-	2	816	c.336G>A	c.(334-336)ctG>ctA	p.L112L	PGLYRP2_ENST00000292609.4_Silent_p.L112L	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	112					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CATCAGGTGCCAGCACCACCC	0.617																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(334-336)ctG>ctA		peptidoglycan recognition protein 2							166.0	122.0	137.0					19																	15587145		2203	4300	6503	SO:0001819	synonymous_variant	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15587145C>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.336G>A	19.37:g.15587145C>T						PGLYRP2_ENST00000340880.4_Silent_p.L112L	p.L112L			Q96PD5	PGRP2_HUMAN			2	465	-			112					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	c.336G>A	CCDS12330.2																																																																																				0.617	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		11	91	0	0	0	1	0	11	91				
MGAT4C	25834	broad.mit.edu	37	12	86373569	86373569	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr12:86373569A>G	ENST00000604798.1	-	8	2139	c.935T>C	c.(934-936)aTg>aCg	p.M312T	MGAT4C_ENST00000552435.2_Silent_p.H100H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.M341T|MGAT4C_ENST00000549405.2_Missense_Mutation_p.M312T|MGAT4C_ENST00000548651.1_Missense_Mutation_p.M312T|MGAT4C_ENST00000332156.1_Missense_Mutation_p.M312T|MGAT4C_ENST00000552808.2_Missense_Mutation_p.M312T			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	312					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATAATAGCCCATGTGCTGAAA	0.408																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(934-936)aTg>aCg		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							80.0	78.0	78.0					12																	86373569		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373569A>G		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.935T>C	12.37:g.86373569A>G	ENSP00000474896:p.Met312Thr					MGAT4C_ENST00000393205.2_Missense_Mutation_p.M341T|MGAT4C_ENST00000332156.1_Missense_Mutation_p.M312T|MGAT4C_ENST00000548651.1_Missense_Mutation_p.M312T|MGAT4C_ENST00000552435.2_Silent_p.H100H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.M312T|MGAT4C_ENST00000549405.2_Missense_Mutation_p.M312T	p.M312T			Q9UBM8	MGT4C_HUMAN			8	2139	-			312					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.935T>C	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562415	0.45694	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.75	5.75	0.90469	.	0.041776	0.85682	D	0.000000	T	0.66096	0.2755	M	0.81802	2.56	0.58432	D	0.999999	P;P	0.52577	0.954;0.921	P;P	0.56514	0.8;0.746	T	0.68739	-0.5329	10	0.46703	T	0.11	-24.5606	16.1254	0.81392	1.0:0.0:0.0:0.0	.	341;312	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	T	312;341;312;312;312;312;312	ENSP00000331664:M312T;ENSP00000376900:M341T;ENSP00000449022:M312T;ENSP00000446647:M312T;ENSP00000447253:M312T;ENSP00000449172:M312T	ENSP00000331664:M312T	M	-	2	0	MGAT4C	84897700	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	9.332000	0.96446	2.195000	0.70347	0.529000	0.55759	ATG		0.408	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		10	69	0	0	0	1	0	10	69				
KPNA4	3840	broad.mit.edu	37	3	160227623	160227623	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr3:160227623T>A	ENST00000334256.4	-	14	1479	c.1174A>T	c.(1174-1176)Ata>Tta	p.I392L		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	392	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AAGTTACTTATGGCCCAAGCA	0.318																																						ENST00000334256.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22						c.(1174-1176)Ata>Tta		karyopherin alpha 4 (importin alpha 3)							144.0	145.0	145.0					3																	160227623		2203	4300	6503	SO:0001583	missense	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160227623T>A	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.1174A>T	3.37:g.160227623T>A	ENSP00000334373:p.Ile392Leu						p.I392L	NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		14	1479	-			392			NLS binding site (minor) (By similarity).		A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	c.1174A>T	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193526	0.78902	.	.	ENSG00000186432	ENST00000334256	T	0.39406	1.08	5.0	5.0	0.66597	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	L	0.38649	1.16	0.80722	D	1	B	0.10296	0.003	B	0.39119	0.291	T	0.48364	-0.9042	10	0.72032	D	0.01	-0.337	14.1788	0.65559	0.0:0.0:0.0:1.0	.	392	O00629	IMA4_HUMAN	L	392	ENSP00000334373:I392L	ENSP00000334373:I392L	I	-	1	0	KPNA4	161710317	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.798000	0.85924	2.019000	0.59389	0.254000	0.18369	ATA		0.318	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		24	115	0	0	0	1	0	24	115				
TERT	7015	broad.mit.edu	37	5	1272370	1272370	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr5:1272370G>A	ENST00000310581.5	-	7	2369	c.2312C>T	c.(2311-2313)cCg>cTg	p.P771L	TERT_ENST00000296820.5_Intron|TERT_ENST00000334602.6_Missense_Mutation_p.P771L|TERT_ENST00000508104.2_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	771	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	TCGCATGTACGGCTGGAGGTC	0.632									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(2311-2313)cCg>cTg		telomerase reverse transcriptase							32.0	38.0	36.0					5																	1272370		2060	4202	6262	SO:0001583	missense	7015	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1272370G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2312C>T	5.37:g.1272370G>A	ENSP00000309572:p.Pro771Leu					TERT_ENST00000508104.2_Intron|TERT_ENST00000334602.6_Missense_Mutation_p.P771L|TERT_ENST00000296820.5_Intron	p.P771L	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		7	2369	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		771			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.2312C>T	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574426	0.45902	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.96967	-4.19;-4.12	4.26	4.26	0.50523	Reverse transcriptase (2);	0.222321	0.39544	N	0.001333	D	0.97657	0.9232	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97835	1.0265	10	0.59425	D	0.04	-24.5724	12.5378	0.56152	0.0:0.0:1.0:0.0	.	771;771	O14746-3;O14746	.;TERT_HUMAN	L	771	ENSP00000309572:P771L;ENSP00000334346:P771L	ENSP00000309572:P771L	P	-	2	0	TERT	1325370	1.000000	0.71417	0.942000	0.38095	0.223000	0.24884	5.063000	0.64332	2.080000	0.62538	0.462000	0.41574	CCG		0.632	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			3	12	0	0	0	1	0	3	12				
DNAH5	1767	broad.mit.edu	37	5	13814775	13814775	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr5:13814775A>C	ENST00000265104.4	-	43	7273	c.7169T>G	c.(7168-7170)gTc>gGc	p.V2390G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2390	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					atttcttgagacggtggcagg	0.393									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(7168-7170)gTc>gGc		dynein, axonemal, heavy chain 5							75.0	67.0	70.0					5																	13814775		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13814775A>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7169T>G	5.37:g.13814775A>C	ENSP00000265104:p.Val2390Gly						p.V2390G	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			43	7273	-	Lung NSC(4;0.00476)		2390			AAA 2 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.7169T>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.482702	0.84747	.	.	ENSG00000039139	ENST00000265104	T	0.46819	0.86	5.28	5.28	0.74379	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.81959	0.4933	H	0.99357	4.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89788	0.3966	10	0.87932	D	0	.	15.2214	0.73313	1.0:0.0:0.0:0.0	.	2390	Q8TE73	DYH5_HUMAN	G	2390	ENSP00000265104:V2390G	ENSP00000265104:V2390G	V	-	2	0	DNAH5	13867775	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	9.279000	0.95777	1.998000	0.58463	0.528000	0.53228	GTC		0.393	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		6	64	0	0	0	1	0	6	64				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						ENST00000546471.1																			0																																																			730092							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A														0	1601	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		3	19	0	0	0	1	0	3	19				
PRKD1	5587	broad.mit.edu	37	14	30100144	30100144	+	Silent	SNP	G	G	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr14:30100144G>A	ENST00000331968.5	-	10	1705	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	PRKD1_ENST00000415220.2_Silent_p.F500F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	492	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TAGTGATTTCGAAACAATGAG	0.398																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(1474-1476)ttC>ttT		protein kinase D1							130.0	121.0	124.0					14																	30100144		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30100144G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1476C>T	14.37:g.30100144G>A						PRKD1_ENST00000415220.2_Silent_p.F500F	p.F492F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	10	1705	-	Hepatocellular(127;0.0604)		492			PH.		A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.1476C>T	CCDS9637.1																																																																																				0.398	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		17	75	0	0	0	1	0	17	75				
TBC1D9	23158	broad.mit.edu	37	4	141591969	141591969	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr4:141591969G>C	ENST00000442267.2	-	7	1245	c.1171C>G	c.(1171-1173)Cta>Gta	p.L391V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	391							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCTGCACTAGAAAGTCTCTA	0.453																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(1171-1173)Cta>Gta		TBC1 domain family, member 9 (with GRAM domain)							151.0	151.0	151.0					4																	141591969		1905	4113	6018	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141591969G>C	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1171C>G	4.37:g.141591969G>C	ENSP00000411197:p.Leu391Val						p.L391V	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			7	1245	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	391					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.1171C>G	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888561	0.72524	.	.	ENSG00000109436	ENST00000442267	T	0.10573	2.86	5.45	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.22704	0.0548	M	0.65320	2	0.80722	D	1	P	0.50819	0.939	P	0.58013	0.831	T	0.00981	-1.1492	10	0.35671	T	0.21	-4.1014	11.3372	0.49511	0.1577:0.0:0.8423:0.0	.	391	Q6ZT07	TBCD9_HUMAN	V	391	ENSP00000411197:L391V	ENSP00000411197:L391V	L	-	1	2	TBC1D9	141811419	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	4.760000	0.62235	1.333000	0.45449	0.650000	0.86243	CTA		0.453	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		5	86	0	0	0	1	0	5	86				
COL9A1	1297	broad.mit.edu	37	6	71009773	71009773	+	Missense_Mutation	SNP	T	T	C	rs571366196		TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr6:71009773T>C	ENST00000357250.6	-	4	430	c.272A>G	c.(271-273)aAt>aGt	p.N91S	COL9A1_ENST00000370496.3_Missense_Mutation_p.N91S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	91	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GTCTACATTATTTCCCAACTT	0.363													T|||	1	0.000199681	0.0	0.0	5008	,	,		14766	0.0		0.0	False		,,,				2504	0.001					ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(271-273)aAt>aGt		collagen, type IX, alpha 1							84.0	82.0	83.0					6																	71009773		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:71009773T>C		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.272A>G	6.37:g.71009773T>C	ENSP00000349790:p.Asn91Ser					COL9A1_ENST00000370496.3_Missense_Mutation_p.N91S	p.N91S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			4	430	-			91			Nonhelical region (NC4).|TSP N-terminal.		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.272A>G	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	T	5.343	0.248608	0.10130	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.02050	4.48;4.48	5.66	-0.734	0.11140	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.580147	0.18021	N	0.154260	T	0.00328	0.0010	N	0.04018	-0.295	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33420	-0.9869	10	0.07325	T	0.83	.	7.826	0.29315	0.0:0.438:0.2223:0.3397	.	91	P20849	CO9A1_HUMAN	S	91	ENSP00000349790:N91S;ENSP00000359527:N91S	ENSP00000349790:N91S	N	-	2	0	COL9A1	71066494	0.438000	0.25602	0.927000	0.36925	0.876000	0.50452	0.047000	0.14056	-0.268000	0.09312	0.528000	0.53228	AAT		0.363	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			7	43	0	0	0	1	0	7	43				
PBRM1	55193	broad.mit.edu	37	3	52643860	52643860	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr3:52643860C>T	ENST00000296302.7	-	16	2037	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	PBRM1_ENST00000337303.4_Missense_Mutation_p.R679H|PBRM1_ENST00000409114.3_Missense_Mutation_p.R694H|PBRM1_ENST00000410007.1_Missense_Mutation_p.R679H|PBRM1_ENST00000409057.1_Missense_Mutation_p.R679H|PBRM1_ENST00000356770.4_Missense_Mutation_p.R647H|PBRM1_ENST00000409767.1_Missense_Mutation_p.R694H|PBRM1_ENST00000394830.3_Missense_Mutation_p.R679H			Q86U86	PB1_HUMAN	polybromo 1	679	Bromo 5. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R678_R679delRR(2)|p.R646_R647delRR(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGCACTGAGGCGGCGACCCCT	0.413			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		3	Deletion - In frame(3)	p.R678_R679delRR(2)|p.R646_R647delRR(1)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1939-1941)cGc>cAc		polybromo 1							111.0	124.0	120.0					3																	52643860		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52643860C>T	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2036G>A	3.37:g.52643860C>T	ENSP00000296302:p.Arg679His					PBRM1_ENST00000394830.3_Missense_Mutation_p.R679H|PBRM1_ENST00000337303.4_Missense_Mutation_p.R679H|PBRM1_ENST00000409767.1_Missense_Mutation_p.R694H|PBRM1_ENST00000409114.3_Missense_Mutation_p.R694H|PBRM1_ENST00000409057.1_Missense_Mutation_p.R679H|PBRM1_ENST00000296302.7_Missense_Mutation_p.R679H|PBRM1_ENST00000410007.1_Missense_Mutation_p.R679H	p.R647H			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	15	1942	-			679					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.1940G>A		.	.	.	.	.	.	.	.	.	.	C	19.22	3.784723	0.70222	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	6.17	6.17	0.99709	Bromodomain (5);	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	L	0.41906	1.305	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;1.0;0.999;1.0;1.0;0.999;1.0	D;D;P;P;D;D;P;D;P;D;D	0.80764	0.988;0.984;0.897;0.842;0.952;0.988;0.858;0.994;0.89;0.973;0.981	T	0.22765	-1.0207	10	0.44086	T	0.13	-31.1517	20.8794	0.99867	0.0:1.0:0.0:0.0	.	679;54;679;679;679;679;694;694;679;647;679	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	H	647;679;679;679;679;679;694;694;679;638	ENSP00000349213:R647H;ENSP00000378307:R679H;ENSP00000296302:R679H;ENSP00000338302:R679H;ENSP00000386593:R679H;ENSP00000386529:R679H;ENSP00000386643:R694H;ENSP00000386601:R694H;ENSP00000387775:R679H;ENSP00000397662:R638H	ENSP00000296302:R679H	R	-	2	0	PBRM1	52618900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.065000	0.71176	2.941000	0.99782	0.655000	0.94253	CGC		0.413	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		12	87	0	0	0	1	0	12	87				
SDK1	221935	broad.mit.edu	37	7	4218155	4218155	+	Missense_Mutation	SNP	G	G	A	rs141831391	byFrequency	TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr7:4218155G>A	ENST00000404826.2	+	35	5174	c.5035G>A	c.(5035-5037)Gcc>Acc	p.A1679T	SDK1_ENST00000389531.3_Missense_Mutation_p.A1659T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1679	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AATAATGACCGCCTATAACAT	0.547													G|||	8	0.00159744	0.0015	0.0029	5008	,	,		18190	0.0		0.004	False		,,,				2504	0.0					ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(5035-5037)Gcc>Acc		sidekick cell adhesion molecule 1		G	THR/ALA	5,4401	6.2+/-15.9	1,3,2199	101.0	112.0	108.0		5035	5.1	0.9	7	dbSNP_134	108	50,8550	31.2+/-83.2	0,50,4250	yes	missense	SDK1	NM_152744.3	58	1,53,6449	AA,AG,GG		0.5814,0.1135,0.4229	possibly-damaging	1679/2214	4218155	55,12951	2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4218155G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5035G>A	7.37:g.4218155G>A	ENSP00000385899:p.Ala1679Thr					SDK1_ENST00000389531.3_Missense_Mutation_p.A1659T	p.A1679T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	35	5174	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1679			Fibronectin type-III 10.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.5035G>A	CCDS34590.1	6	0.0027472527472527475	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	G	16.79	3.220897	0.58560	0.001135	0.005814	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.76448	-0.27;-1.02	5.09	5.09	0.68999	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.84570	0.5501	M	0.86864	2.845	0.48452	D	0.999654	D;D;D	0.71674	0.976;0.981;0.998	P;P;P	0.62491	0.526;0.802;0.903	D	0.85799	0.1372	10	0.33141	T	0.24	.	17.0409	0.86489	0.0:0.0:1.0:0.0	.	1659;166;1679	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	T	1679;1659	ENSP00000385899:A1679T;ENSP00000374182:A1659T	ENSP00000374182:A1659T	A	+	1	0	SDK1	4184681	0.990000	0.36364	0.929000	0.37066	0.213000	0.24496	4.555000	0.60767	2.525000	0.85131	0.655000	0.94253	GCC		0.547	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		6	121	0	0	0	1	0	6	121				
ST6GAL1	6480	broad.mit.edu	37	3	186760908	186760908	+	Silent	SNP	C	C	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr3:186760908C>T	ENST00000169298.3	+	4	1091	c.417C>T	c.(415-417)gcC>gcT	p.A139A	ST6GAL1_ENST00000448044.1_Silent_p.A139A|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	139					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GTGCAGAGGCCCTGCGCTGCC	0.507																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(415-417)gcC>gcT		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							72.0	72.0	72.0					3																	186760908		2203	4300	6503	SO:0001819	synonymous_variant	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186760908C>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.417C>T	3.37:g.186760908C>T						ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Silent_p.A139A	p.A139A	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	4	1091	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		139					A8KA14|B2R513|D3DNV3	Silent	SNP	ENST00000169298.3	37	c.417C>T	CCDS3285.1																																																																																				0.507	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		6	47	0	0	0	1	0	6	47				
CD5L	922	broad.mit.edu	37	1	157804318	157804318	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr1:157804318T>G	ENST00000368174.4	-	4	693	c.597A>C	c.(595-597)aaA>aaC	p.K199N	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	199	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.K199K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCAGATGGGTTTTCGGCCAT	0.582																																						ENST00000368174.4																			1	Substitution - coding silent(1)	p.K199K(1)	stomach(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(595-597)aaA>aaC		CD5 molecule-like							78.0	69.0	72.0					1																	157804318		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804318T>G	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.597A>C	1.37:g.157804318T>G	ENSP00000357156:p.Lys199Asn						p.K199N	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	693	-	all_hematologic(112;0.0378)		199			SRCR 2.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.597A>C	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.839702	0.32513	.	.	ENSG00000073754	ENST00000368174	T	0.35421	1.31	4.97	-4.11	0.03928	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.648894	0.13584	N	0.377102	T	0.04679	0.0127	N	0.04335	-0.225	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.35919	-0.9769	10	0.62326	D	0.03	.	5.8749	0.18824	0.0:0.3265:0.2382:0.4353	.	199	O43866	CD5L_HUMAN	N	199	ENSP00000357156:K199N	ENSP00000357156:K199N	K	-	3	2	CD5L	156070942	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.315000	0.00071	-0.697000	0.05092	-0.313000	0.08912	AAA		0.582	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		6	49	0	0	0	1	0	6	49				
IL5RA	3568	broad.mit.edu	37	3	3139681	3139681	+	Silent	SNP	G	G	A	rs375616330		TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr3:3139681G>A	ENST00000446632.2	-	7	1156	c.582C>T	c.(580-582)atC>atT	p.I194I	IL5RA_ENST00000438560.1_Silent_p.I194I|IL5RA_ENST00000311981.8_Silent_p.I194I|IL5RA_ENST00000418488.2_Silent_p.I194I|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000256452.3_Silent_p.I194I|IL5RA_ENST00000383846.1_Silent_p.I194I|IL5RA_ENST00000430514.2_Silent_p.I194I|IL5RA_ENST00000456302.1_Silent_p.I194I	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	194					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		ACCAGCATGCGATATTTCTCC	0.483																																					GBM(169;430 2801 24955 28528)	ENST00000446632.2																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24						c.(580-582)atC>atT		interleukin 5 receptor, alpha							176.0	151.0	160.0					3																	3139681		2203	4300	6503	SO:0001819	synonymous_variant	3568				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3139681G>A	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.582C>T	3.37:g.3139681G>A						IL5RA_ENST00000311981.8_Silent_p.I194I|IL5RA_ENST00000456302.1_Silent_p.I194I|IL5RA_ENST00000256452.3_Silent_p.I194I|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000438560.1_Silent_p.I194I|IL5RA_ENST00000430514.2_Silent_p.I194I|IL5RA_ENST00000383846.1_Silent_p.I194I|IL5RA_ENST00000418488.2_Silent_p.I194I	p.I194I	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	7	1156	-			194					B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Silent	SNP	ENST00000446632.2	37	c.582C>T	CCDS2559.1																																																																																				0.483	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			5	74	0	0	0	1	0	5	74				
HECTD2	143279	broad.mit.edu	37	10	93185163	93185163	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr10:93185163G>T	ENST00000298068.5	+	2	358	c.264G>T	c.(262-264)aaG>aaT	p.K88N	HECTD2_ENST00000371681.4_Missense_Mutation_p.K88N|HECTD2_ENST00000446394.1_Missense_Mutation_p.K88N	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	88					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CTAACATCAAGAATGGtaaat	0.294																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(262-264)aaG>aaT		HECT domain containing E3 ubiquitin protein ligase 2							20.0	20.0	20.0					10																	93185163		2201	4295	6496	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93185163G>T	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.264G>T	10.37:g.93185163G>T	ENSP00000298068:p.Lys88Asn					HECTD2_ENST00000371681.4_Missense_Mutation_p.K88N|HECTD2_ENST00000298068.5_Missense_Mutation_p.K88N	p.K88N			Q5U5R9	HECD2_HUMAN			2	364	+			88					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.264G>T	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626517	0.46840	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.50813	1.18;0.73;1.19	5.14	4.22	0.49857	.	0.067569	0.56097	D	0.000026	T	0.50188	0.1601	L	0.48642	1.525	0.80722	D	1	B;B;D	0.61697	0.155;0.155;0.99	B;B;P	0.57152	0.096;0.096;0.814	T	0.50065	-0.8871	10	0.54805	T	0.06	.	6.1751	0.20439	0.2499:0.0:0.7501:0.0	.	88;88;88	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	N	88	ENSP00000401023:K88N;ENSP00000360746:K88N;ENSP00000298068:K88N	ENSP00000298068:K88N	K	+	3	2	HECTD2	93175143	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.536000	0.53582	2.573000	0.86826	0.655000	0.94253	AAG		0.294	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			4	16	1	0	0.00024832	1	0.000296074	4	16				
WISP3	8838	broad.mit.edu	37	6	112390582	112390582	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr6:112390582C>A	ENST00000368666.2	+	5	1110	c.824C>A	c.(823-825)tCc>tAc	p.S275Y	WISP3_ENST00000368663.3_Missense_Mutation_p.S252Y|WISP3_ENST00000361714.1_Missense_Mutation_p.S293Y|TUBE1_ENST00000604814.1_5'Flank|WISP3_ENST00000604763.1_Missense_Mutation_p.S275Y|WISP3_ENST00000230529.5_Missense_Mutation_p.S275Y|WISP3_ENST00000409166.1_Missense_Mutation_p.S51Y	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	275	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TTCCAACTCTCCAAAGCTGAA	0.328																																						ENST00000361714.1																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(877-879)tCc>tAc		WNT1 inducible signaling pathway protein 3							68.0	70.0	69.0					6																	112390582		2202	4300	6502	SO:0001583	missense	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112390582C>A	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.824C>A	6.37:g.112390582C>A	ENSP00000357655:p.Ser275Tyr					WISP3_ENST00000368666.2_Missense_Mutation_p.S275Y|WISP3_ENST00000230529.5_Missense_Mutation_p.S275Y|WISP3_ENST00000368663.3_Missense_Mutation_p.S252Y|WISP3_ENST00000604763.1_Missense_Mutation_p.S275Y|WISP3_ENST00000409166.1_Missense_Mutation_p.S51Y	p.S293Y			O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	5	923	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	275			CTCK.		Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	c.878C>A	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	C	7.208	0.594934	0.13875	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000541491;ENST00000361714;ENST00000368663;ENST00000409166	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	5.59	2.64	0.31445	Cystine knot (1);Cystine knot, C-terminal (2);	0.679486	0.16138	N	0.227877	T	0.80602	0.4654	L	0.61218	1.895	0.09310	N	1	P;B	0.41784	0.762;0.272	B;B	0.36719	0.231;0.185	T	0.71006	-0.4717	10	0.62326	D	0.03	.	11.0746	0.48023	0.0:0.8109:0.0:0.1891	.	293;275	O95389-2;O95389	.;WISP3_HUMAN	Y	275;275;51;293;252;51	ENSP00000357655:S275Y;ENSP00000230529:S275Y;ENSP00000354734:S293Y;ENSP00000357652:S252Y;ENSP00000386467:S51Y	ENSP00000230529:S275Y	S	+	2	0	WISP3	112497275	0.980000	0.34600	0.353000	0.25747	0.159000	0.22180	2.541000	0.45735	0.213000	0.20722	-0.140000	0.14226	TCC		0.328	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		3	44	1	0	0.115264	1	0.119106	3	44				
NMT1	4836	broad.mit.edu	37	17	43182277	43182277	+	Missense_Mutation	SNP	C	C	A	rs556448466		TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr17:43182277C>A	ENST00000592782.1	+	12	1514	c.1383C>A	c.(1381-1383)ttC>ttA	p.F461L	NMT1_ENST00000258960.2_Missense_Mutation_p.F461L			P30419	NMT1_HUMAN	N-myristoyltransferase 1	461					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				ACAAAACCTTCCTGGAGAAGC	0.502																																						ENST00000592782.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8						c.(1381-1383)ttC>ttA		N-myristoyltransferase 1							151.0	140.0	143.0					17																	43182277		2203	4300	6503	SO:0001583	missense	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43182277C>A		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1383C>A	17.37:g.43182277C>A	ENSP00000468424:p.Phe461Leu					NMT1_ENST00000258960.2_Missense_Mutation_p.F461L	p.F461L			P30419	NMT1_HUMAN			12	1514	+		Prostate(33;0.155)	461					A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	c.1383C>A	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639418	0.87760	.	.	ENSG00000136448	ENST00000258960	T	0.51817	0.69	5.93	4.97	0.65823	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71324	0.3326	M	0.90309	3.105	0.58432	D	0.999999	D	0.65815	0.995	D	0.68039	0.955	T	0.77239	-0.2661	10	0.87932	D	0	-14.7415	11.3313	0.49477	0.0:0.8613:0.0:0.1387	.	461	P30419	NMT1_HUMAN	L	461	ENSP00000258960:F461L	ENSP00000258960:F461L	F	+	3	2	NMT1	40537803	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.189000	0.50965	1.518000	0.48934	0.561000	0.74099	TTC		0.502	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		3	38	1	0	0.115264	1	0.119106	3	38				
ABCB6	10058	broad.mit.edu	37	2	220078333	220078333	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr2:220078333T>C	ENST00000265316.3	-	10	1950	c.1634A>G	c.(1633-1635)aAt>aGt	p.N545S	ABCB6_ENST00000439002.2_Missense_Mutation_p.N499S	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	545	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCAAACCAATTGAGGGGCAT	0.532																																						ENST00000265316.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1633-1635)aAt>aGt		ATP-binding cassette, sub-family B (MDR/TAP), member 6							102.0	103.0	103.0					2																	220078333		2203	4300	6503	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220078333T>C	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1634A>G	2.37:g.220078333T>C	ENSP00000265316:p.Asn545Ser					ABCB6_ENST00000439002.2_Missense_Mutation_p.N499S	p.N545S	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1950	-		Renal(207;0.0474)	545			ABC transmembrane type-1.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.1634A>G	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.25|18.25	3.582916|3.582916	0.65992|0.65992	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000295750|ENST00000265316;ENST00000439002	.|D;D	.|0.94184	.|-3.3;-3.37	5.01|5.01	5.01|5.01	0.66863|0.66863	.|ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96116|0.96116	0.8734|0.8734	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	.|P;P	.|0.51933	.|0.945;0.949	.|P;P	.|0.59424	.|0.857;0.723	D|D	0.96469|0.96469	0.9347|0.9347	5|10	.|0.62326	.|D	.|0.03	-21.3451|-21.3451	14.4008|14.4008	0.67044|0.67044	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|499;545	.|Q9NP58-4;Q9NP58	.|.;ABCB6_HUMAN	V|S	393|545;499	.|ENSP00000265316:N545S;ENSP00000394333:N499S	.|ENSP00000265316:N545S	I|N	-|-	1|2	0|0	ABCB6|ABCB6	219786577|219786577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.917000|7.917000	0.87498|0.87498	1.881000|1.881000	0.54492|0.54492	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.532	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		4	76	0	0	0	1	0	4	76				
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		8	61						8	61	---	---	---	---
CYP4B1	1580	broad.mit.edu	37	1	47283811	47283812	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr1:47283811_47283812delCT	ENST00000271153.4	+	11	1314_1315	c.1278_1279delCT	c.(1276-1281)gactctfs	p.S427fs	CYP4B1_ENST00000452782.2_Frame_Shift_Del_p.S265fs|CYP4B1_ENST00000371919.4_Frame_Shift_Del_p.S413fs|CYP4B1_ENST00000371923.4_Frame_Shift_Del_p.S428fs			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	427					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	AGGTCTTTGACTCTCTGCGCTT	0.584																																						ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(1276-1281)gactfs		cytochrome P450, family 4, subfamily B, polypeptide 1																																				SO:0001589	frameshift_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47283811_47283812delCT	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1278_1279delCT	1.37:g.47283815_47283816delCT	ENSP00000271153:p.Ser427fs					CYP4B1_ENST00000371923.4_Frame_Shift_Del_p.DS427fs|CYP4B1_ENST00000452782.2_Frame_Shift_Del_p.DS264fs|CYP4B1_ENST00000371919.4_Frame_Shift_Del_p.DS412fs	p.DS426fs			P13584	CP4B1_HUMAN			11	1314_1315	+	Acute lymphoblastic leukemia(166;0.155)		426					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Frame_Shift_Del	DEL	ENST00000271153.4	37	c.1278_1279delCT	CCDS542.1																																																																																				0.584	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		8	93						8	93	---	---	---	---
ARL15	54622	broad.mit.edu	37	5	53182535	53182535	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr5:53182535delT	ENST00000504924.1	-	5	564	c.471delA	c.(469-471)aaafs	p.K157fs	ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000502271.1_5'UTR	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	157					small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				GTTCAAAATATTTTTTGATCT	0.363																																						ENST00000504924.1																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(469-471)aafs		ADP-ribosylation factor-like 15							28.0	24.0	25.0					5																	53182535		1807	4074	5881	SO:0001589	frameshift_variant	54622						GTP binding	g.chr5:53182535delT	BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25945	protein-coding gene	gene with protein product			"""ADP-ribosylation factor related protein 2"""	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.471delA	5.37:g.53182535delT	ENSP00000433427:p.Lys157fs					ARL15_ENST00000502271.1_5'UTR|ARL15_ENST00000510591.2_5'UTR	p.K157fs	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN			5	564	-		Lung NSC(810;0.000779)	157					Q6IAD0	Frame_Shift_Del	DEL	ENST00000504924.1	37	c.471delA	CCDS54850.1																																																																																				0.363	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368432.2	NM_019087		2	4						2	4	---	---	---	---
TMEM38B	55151	broad.mit.edu	37	9	108484899	108484900	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr9:108484899_108484900insA	ENST00000374692.3	+	4	656_657	c.539_540insA	c.(538-543)tcatacfs	p.Y181fs	TMEM38B_ENST00000374688.1_Frame_Shift_Ins_p.Y127fs	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	181						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CTGAAGATGTCATAGTAAGTTG	0.342																																						ENST00000374688.1																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(376-378)ttafs		transmembrane protein 38B																																				SO:0001589	frameshift_variant	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108484899_108484900insA	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.540dupA	9.37:g.108484900_108484900dupA	ENSP00000363824:p.Tyr181fs					TMEM38B_ENST00000374692.3_Frame_Shift_Ins_p.L180fs	p.L126fs			Q9NVV0	TM38B_HUMAN			4	1087_1088	+			180					Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Frame_Shift_Ins	INS	ENST00000374692.3	37	c.377_378insA	CCDS6768.1																																																																																				0.342	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		8	69						8	69	---	---	---	---
C11orf48	79081	broad.mit.edu	37	11	62435132	62435134	+	In_Frame_Del	DEL	TCT	TCT	-	rs566996567		TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr11:62435132_62435134delTCT	ENST00000431002.2	-	2	2210_2212	c.477_479delAGA	c.(475-480)gaagat>gat	p.E159del	C11orf48_ENST00000354588.3_In_Frame_Del_p.E133del|METTL12_ENST00000532971.1_3'UTR|C11orf83_ENST00000531323.1_5'Flank|C11orf48_ENST00000524958.1_5'Flank|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000532208.1_In_Frame_Del_p.E133del|C11orf48_ENST00000525675.1_5'Flank|SNORA57_ENST00000383870.1_RNA			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	159										endometrium(1)|lung(5)|urinary_tract(1)	7						CCAACAAGCATCTTCTTCATCCT	0.537																																						ENST00000431002.2																			0				endometrium(1)|lung(5)|urinary_tract(1)	7						c.(475-480)gat>ga		chromosome 11 open reading frame 48				16,4248		8,0,2124						-3.7	0.0			232	60,8192		28,4,4094	no	coding	C11orf48	NM_024099.3		36,4,6218	A1A1,A1R,RR		0.7271,0.3752,0.6072				76,12440				SO:0001651	inframe_deletion	79081							g.chr11:62435132_62435134delTCT	BC001434	CCDS8028.1	11q12.3	2014-02-12			ENSG00000162194	ENSG00000162194			28351	protein-coding gene	gene with protein product						12477932	Standard	NM_024099		Approved	MGC2477	uc001nuf.3	Q9BQE6	OTTHUMG00000167588	ENST00000431002.2:c.477_479delAGA	11.37:g.62435135_62435137delTCT	ENSP00000416856:p.Glu159del					C11orf48_ENST00000532208.1_In_Frame_Del_p.ED133del|C11orf48_ENST00000354588.3_In_Frame_Del_p.ED133del|METTL12_ENST00000532971.1_3'UTR	p.ED159del			Q9BQE6	CK048_HUMAN			2	2210_2212	-			159					Q96NA4	In_Frame_Del	DEL	ENST00000431002.2	37	c.477_479delAGA																																																																																					0.537	C11orf48-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000395233.1	NM_024099		15	266						15	266	---	---	---	---
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-	rs371197465		TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)catdel	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	521	His-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1561-1563)del		cyclin T1				12,4250		0,12,2119						4.8	1.0			307	3,8241		1,1,4120	no	coding	CCNT1	NM_001240.2		1,13,6239	A1A1,A1R,RR		0.0364,0.2816,0.1199				15,12491				SO:0001651	inframe_deletion	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087434_49087436delATG	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1561_1563delCAT	12.37:g.49087443_49087445delATG	ENSP00000261900:p.His521del						p.H521del	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1783_1785	-			521			His-rich.		A9XU13|E7EX76|O60581	In_Frame_Del	DEL	ENST00000261900.3	37	c.1561_1563delCAT	CCDS8766.1																																																																																				0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		8	406						8	406	---	---	---	---
