#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABRA	137735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	107773573	107773573	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr8:107773573G>A	ENST00000311955.3	-	2	892	c.838C>T	c.(838-840)Cac>Tac	p.H280Y		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.H280Y(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TCTCCTTTGTGTAGGCGGGTG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											109.0	94.0	99.0					8																	107773573		2203	4300	6503	SO:0001583	missense	137735			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.838C>T	8.37:g.107773573G>A	ENSP00000311436:p.His280Tyr			Missense_Mutation	SNP	ENST00000311955.3	37	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717630	0.89205	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.06	5.16	0.70880	.	0.046407	0.85682	D	0.000000	T	0.73552	0.3601	M	0.65975	2.015	0.58432	D	0.999998	D	0.63880	0.993	P	0.56563	0.801	T	0.76280	-0.3017	9	0.87932	D	0	-23.3133	16.8247	0.85927	0.0:0.0:0.8709:0.1291	.	280	Q8N0Z2	ABRA_HUMAN	Y	280	.	ENSP00000311436:H280Y	H	-	1	0	ABRA	107842749	1.000000	0.71417	0.957000	0.39632	0.821000	0.46438	8.001000	0.88508	2.882000	0.98803	0.655000	0.94253	CAC		0.517	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1		NM_139166	
ABRA	137735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	107773580	107773580	+	Silent	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr8:107773580G>A	ENST00000311955.3	-	2	885	c.831C>T	c.(829-831)acC>acT	p.T277T		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.T277T(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TGTGTAGGCGGGTGGACATGG	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											110.0	96.0	101.0					8																	107773580		2203	4300	6503	SO:0001819	synonymous_variant	137735			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.831C>T	8.37:g.107773580G>A				Silent	SNP	ENST00000311955.3	37	CCDS6305.1																																																																																				0.512	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1		NM_139166	
ABRA	137735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	107773583	107773583	+	Silent	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr8:107773583G>A	ENST00000311955.3	-	2	882	c.828C>T	c.(826-828)tcC>tcT	p.S276S		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.S276S(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTAGGCGGGTGGACATGGCCA	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											108.0	94.0	99.0					8																	107773583		2203	4300	6503	SO:0001819	synonymous_variant	137735			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.828C>T	8.37:g.107773583G>A				Silent	SNP	ENST00000311955.3	37	CCDS6305.1																																																																																				0.517	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1		NM_139166	
ACSL6	23305	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131323842	131323842	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr5:131323842G>T	ENST00000379240.1	-	7	808	c.655C>A	c.(655-657)Cca>Aca	p.P219T	ACSL6_ENST00000379244.1_Missense_Mutation_p.P219T|ACSL6_ENST00000379264.2_Missense_Mutation_p.P244T|ACSL6_ENST00000543479.1_Missense_Mutation_p.P219T|ACSL6_ENST00000296869.4_Missense_Mutation_p.P244T|ACSL6_ENST00000379255.1_Missense_Mutation_p.P184T|ACSL6_ENST00000544770.1_Missense_Mutation_p.P128T|ACSL6_ENST00000357096.1_Missense_Mutation_p.P184T|ACSL6_ENST00000379272.2_Missense_Mutation_p.P234T|ACSL6_ENST00000379249.3_Missense_Mutation_p.P219T|ACSL6_ENST00000431707.1_Missense_Mutation_p.P199T|ACSL6_ENST00000379246.1_Missense_Mutation_p.P230T			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	219					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.P244T(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGAGGCCTGGAGTCTCCTTC	0.562																																																	2	Substitution - Missense(2)	kidney(2)											335.0	306.0	316.0					5																	131323842		2203	4300	6503	SO:0001583	missense	23305			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.655C>A	5.37:g.131323842G>T	ENSP00000368542:p.Pro219Thr		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37		.	.	.	.	.	.	.	.	.	.	G	21.8	4.201965	0.79127	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099	T;T;T;T;T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.92	5.92	0.95590	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.73217	2.22	0.80722	D	1	B;B;B;B;B;B;B	0.28820	0.042;0.188;0.224;0.124;0.181;0.019;0.188	B;B;B;B;B;B;B	0.39152	0.098;0.292;0.257;0.191;0.172;0.292;0.167	T	0.01904	-1.1250	10	0.52906	T	0.07	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	219;234;209;219;184;244;244	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	T	219;244;234;184;184;244;230;219;128;219;199;219;184	ENSP00000368551:P219T;ENSP00000368566:P244T;ENSP00000368574:P234T;ENSP00000349608:P184T;ENSP00000368557:P184T;ENSP00000296869:P244T;ENSP00000368548:P230T;ENSP00000368546:P219T;ENSP00000445154:P128T;ENSP00000368542:P219T;ENSP00000413329:P199T;ENSP00000442124:P219T;ENSP00000397507:P184T	ENSP00000296869:P244T	P	-	1	0	ACSL6	131351741	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	9.687000	0.98667	2.811000	0.96726	0.555000	0.69702	CCA		0.562	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1		NM_015256	
ALG12	79087	hgsc.bcm.edu	37	22	50297496	50297497	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr22:50297496_50297497insG	ENST00000330817.6	-	10	1729_1730	c.1456_1457insC	c.(1456-1458)cggfs	p.R486fs	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	486					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TCAGGACGGCCGGGGGAGCCTC	0.594																																																	0																																										SO:0001589	frameshift_variant	79087			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1457dupC	22.37:g.50297501_50297501dupG	ENSP00000333813:p.Arg486fs		A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Frame_Shift_Ins	INS	ENST00000330817.6	37	CCDS14081.1																																																																																				0.594	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2		NM_024105	
ANKRD20A1	84210	hgsc.bcm.edu	37	9	67938638	67938641	+	Frame_Shift_Del	DEL	TACT	TACT	-	rs28645645		TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	TACT	TACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr9:67938638_67938641delTACT	ENST00000377477.2	+	6	885_888	c.773_776delTACT	c.(772-777)atacttfs	p.IL258fs	RNU6-368P_ENST00000391117.1_RNA	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	258						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AAAAAGAAGATACTTAAAAAGGAG	0.245																																																	0																																										SO:0001589	frameshift_variant	84210			AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.773_776delTACT	9.37:g.67938638_67938641delTACT	ENSP00000366697:p.Ile258fs		Q9H0H6	Frame_Shift_Del	DEL	ENST00000377477.2	37	CCDS6620.1																																																																																				0.245	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1			
ANKRD50	57182	broad.mit.edu;ucsc.edu	37	4	125590998	125590998	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr4:125590998T>G	ENST00000504087.1	-	4	4471	c.3434A>C	c.(3433-3435)gAt>gCt	p.D1145A	ANKRD50_ENST00000515641.1_Missense_Mutation_p.D966A	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1145	Ser-rich.							p.D1145A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AGGCTGCATATCCCCTCCACC	0.428																																																	1	Substitution - Missense(1)	kidney(1)											149.0	142.0	145.0					4																	125590998		2203	4300	6503	SO:0001583	missense	57182			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3434A>C	4.37:g.125590998T>G	ENSP00000425658:p.Asp1145Ala		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.071741	0.36566	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66815	-0.23;-0.19	5.19	5.19	0.71726	.	0.102905	0.64402	D	0.000005	T	0.49729	0.1574	L	0.27053	0.805	0.58432	D	0.999997	B	0.29627	0.252	B	0.24155	0.051	T	0.48317	-0.9046	10	0.08179	T	0.78	.	15.2021	0.73147	0.0:0.0:0.0:1.0	.	1145	Q9ULJ7	ANR50_HUMAN	A	1145;966	ENSP00000425658:D1145A;ENSP00000425355:D966A	ENSP00000425658:D1145A	D	-	2	0	ANKRD50	125810448	1.000000	0.71417	0.852000	0.33557	0.976000	0.68499	7.365000	0.79537	2.179000	0.69175	0.459000	0.35465	GAT		0.428	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1		NM_020337	
ARHGAP30	257106	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	161018362	161018362	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr1:161018362C>T	ENST00000368013.3	-	12	2769	c.2449G>A	c.(2449-2451)Ggt>Agt	p.G817S	USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.G640S|USF1_ENST00000435396.1_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	817	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.G817S(1)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTGTCTTCACCATCTCCTTGG	0.547																																																	1	Substitution - Missense(1)	kidney(1)											199.0	186.0	190.0					1																	161018362		2203	4300	6503	SO:0001583	missense	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2449G>A	1.37:g.161018362C>T	ENSP00000356992:p.Gly817Ser		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	8.150	0.787094	0.16189	.	.	ENSG00000186517	ENST00000368013;ENST00000368015	T;T	0.32515	2.98;1.45	4.58	2.22	0.28083	.	1.012260	0.07934	N	0.978015	T	0.08044	0.0201	L	0.39633	1.23	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.38585	-0.9654	10	0.10902	T	0.67	.	7.209	0.25923	0.0:0.676:0.0:0.324	.	817	Q7Z6I6	RHG30_HUMAN	S	817;640	ENSP00000356992:G817S;ENSP00000356994:G640S	ENSP00000356992:G817S	G	-	1	0	ARHGAP30	159284986	0.000000	0.05858	0.511000	0.27724	0.821000	0.46438	-0.319000	0.08039	0.868000	0.35678	0.455000	0.32223	GGT		0.547	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2		NM_181720	
ASGR2	433	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7010447	7010447	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr17:7010447C>A	ENST00000380952.2	-	7	799	c.535G>T	c.(535-537)Gtc>Ttc	p.V179F	ASGR2_ENST00000254850.7_Missense_Mutation_p.V155F|ASGR2_ENST00000446679.2_Missense_Mutation_p.V160F|ASGR2_ENST00000355035.5_Missense_Mutation_p.V179F	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	179	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)	p.V179F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	ACCCAGTTGACGGGGCAGCAG	0.662																																																	1	Substitution - Missense(1)	kidney(1)											79.0	75.0	76.0					17																	7010447		2203	4300	6503	SO:0001583	missense	433			M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.535G>T	17.37:g.7010447C>A	ENSP00000370339:p.Val179Phe		A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588127	0.28268	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	4.45	0.559	0.17272	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.193267	0.25487	N	0.030327	T	0.18800	0.0451	L	0.37630	1.12	0.09310	N	1	D;P;P;D;P	0.60575	0.988;0.905;0.77;0.974;0.955	P;P;P;P;P	0.60068	0.868;0.692;0.562;0.746;0.692	T	0.07046	-1.0793	10	0.37606	T	0.19	.	2.3379	0.04252	0.1736:0.4643:0.2495:0.1127	.	155;179;174;160;179	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	F	179;155;179;160	ENSP00000347140:V179F;ENSP00000254850:V155F;ENSP00000370339:V179F;ENSP00000405844:V160F	ENSP00000254850:V155F	V	-	1	0	ASGR2	6951171	0.000000	0.05858	0.109000	0.21407	0.052000	0.14988	-1.024000	0.03603	0.400000	0.25396	-0.170000	0.13304	GTC		0.662	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1		NM_080914	
BAP1	8314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52439306	52439306	+	Silent	SNP	A	A	C			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr3:52439306A>C	ENST00000460680.1	-	11	1407	c.936T>G	c.(934-936)ggT>ggG	p.G312G	BAP1_ENST00000296288.5_Silent_p.G294G	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G312G(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCTCCTCTGCACCATCTGAGA	0.592			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Substitution - coding silent(1)	kidney(1)											85.0	88.0	87.0					3																	52439306		2203	4300	6503	SO:0001819	synonymous_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.936T>G	3.37:g.52439306A>C			B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP	ENST00000460680.1	37	CCDS2853.1																																																																																				0.592	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			
ATP13A5	344905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	193007828	193007828	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr3:193007828G>T	ENST00000342358.4	-	26	2986	c.2869C>A	c.(2869-2871)Cca>Aca	p.P957T	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	957						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.P957T(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GCCAGCTTTGGGTAGGCATGA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											98.0	98.0	98.0					3																	193007828		2203	4300	6503	SO:0001583	missense	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2869C>A	3.37:g.193007828G>T	ENSP00000341942:p.Pro957Thr		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287035	0.59867	.	.	ENSG00000187527	ENST00000342358	D	0.89617	-2.54	5.61	4.74	0.60224	.	0.073585	0.64402	D	0.000019	D	0.87561	0.6208	M	0.66297	2.02	0.35403	D	0.791746	P	0.45672	0.864	B	0.43194	0.411	D	0.88715	0.3225	10	0.27082	T	0.32	-6.7864	12.2734	0.54719	0.0821:0.0:0.9179:0.0	.	957	Q4VNC0	AT135_HUMAN	T	957	ENSP00000341942:P957T	ENSP00000341942:P957T	P	-	1	0	ATP13A5	194490522	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.666000	0.61554	1.380000	0.46344	-0.142000	0.14014	CCA		0.378	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1		NM_198505	
CACNA1I	8911	broad.mit.edu;ucsc.edu	37	22	40075845	40075845	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr22:40075845G>A	ENST00000402142.3	+	33	5513	c.5513G>A	c.(5512-5514)tGc>tAc	p.C1838Y	CACNA1I_ENST00000404898.1_Missense_Mutation_p.C1803Y|CACNA1I_ENST00000336649.4_Missense_Mutation_p.C1844Y|CACNA1I_ENST00000407673.1_Missense_Mutation_p.C1803Y|CACNA1I_ENST00000401624.1_Missense_Mutation_p.C1838Y|CACNA1I_ENST00000400164.3_Missense_Mutation_p.C1803Y	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1838					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.C1838Y(1)|p.C1803Y(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGCCGGCTGCAAGAAGTGT	0.612																																																	2	Substitution - Missense(2)	kidney(2)											36.0	40.0	39.0					22																	40075845		2029	4184	6213	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5513G>A	22.37:g.40075845G>A	ENSP00000385019:p.Cys1838Tyr		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	g	6.941	0.543442	0.13250	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97430	-4.36;-4.33;-4.29;-4.25;-4.38;-4.3	4.13	1.89	0.25635	.	1.713560	0.03567	N	0.227921	D	0.96661	0.8910	M	0.62723	1.935	0.35331	D	0.785666	B;B;P;P	0.42620	0.207;0.4;0.785;0.679	B;B;P;B	0.48063	0.221;0.221;0.565;0.362	D	0.88675	0.3198	10	0.18276	T	0.48	.	9.6877	0.40109	0.1824:0.0:0.8176:0.0	.	1803;1838;1803;1838	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	Y	1838;1803;1838;1803;1844;1803	ENSP00000385019:C1838Y;ENSP00000384093:C1803Y;ENSP00000383887:C1838Y;ENSP00000385680:C1803Y;ENSP00000337829:C1844Y;ENSP00000383028:C1803Y	ENSP00000337829:C1844Y	C	+	2	0	CACNA1I	38405791	1.000000	0.71417	0.041000	0.18516	0.000000	0.00434	6.289000	0.72696	0.265000	0.21872	-1.163000	0.01768	TGC		0.612	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1		NM_001003406	
CNTN2	6900	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205041696	205041696	+	Silent	SNP	A	A	C			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr1:205041696A>C	ENST00000331830.4	+	21	3101	c.2817A>C	c.(2815-2817)cgA>cgC	p.R939R		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	939	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.R939R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCCCTTTCCGAAATGAGTCTG	0.532																																					Melanoma(183;2548 2817 37099 41192)												1	Substitution - coding silent(1)	kidney(1)											66.0	64.0	65.0					1																	205041696		2203	4300	6503	SO:0001819	synonymous_variant	6900			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2817A>C	1.37:g.205041696A>C			P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	CCDS1449.1																																																																																				0.532	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3		NM_005076	
CSNK1G2	1455	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1980183	1980183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr19:1980183C>A	ENST00000255641.8	+	12	1724	c.1229C>A	c.(1228-1230)tCg>tAg	p.S410*		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	410					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)	p.S410*(1)		endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAGAAAATCGCTGCAGCGA	0.662																																					Ovarian(91;880 1392 21236 36928 37598)												1	Substitution - Nonsense(1)	kidney(1)											53.0	55.0	54.0					19																	1980183		2203	4300	6503	SO:0001587	stop_gained	1455			AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.1229C>A	19.37:g.1980183C>A	ENSP00000255641:p.Ser410*		B5BU42|O00704|Q8WUB1	Nonsense_Mutation	SNP	ENST00000255641.8	37	CCDS12077.1	.	.	.	.	.	.	.	.	.	.	.	40	8.426199	0.98806	.	.	ENSG00000133275	ENST00000255641	.	.	.	4.52	3.4	0.38934	.	0.488453	0.19072	U	0.123472	.	.	.	.	.	.	0.40149	D	0.976926	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0155	0.47687	0.0:0.8106:0.1894:0.0	.	.	.	.	X	410	.	ENSP00000255641:S410X	S	+	2	0	CSNK1G2	1931183	0.982000	0.34865	0.743000	0.31040	0.660000	0.38997	3.185000	0.50934	2.053000	0.61076	0.462000	0.41574	TCG		0.662	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449287.1		NM_001319	
DHX36	170506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	154018456	154018456	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr3:154018456T>A	ENST00000496811.1	-	11	1468	c.1388A>T	c.(1387-1389)gAa>gTa	p.E463V	DHX36_ENST00000308361.6_Missense_Mutation_p.E463V|DHX36_ENST00000329463.5_Missense_Mutation_p.E463V|DHX36_ENST00000544526.1_Missense_Mutation_p.E463V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	463					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.E463V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTCCATCATTTCTATAACATC	0.308																																																	1	Substitution - Missense(1)	kidney(1)											116.0	112.0	113.0					3																	154018456		2203	4297	6500	SO:0001583	missense	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1388A>T	3.37:g.154018456T>A	ENSP00000417078:p.Glu463Val		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179727	0.57800	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.02944	4.1;4.1;4.1;4.1;4.1	5.75	4.59	0.56863	.	0.136539	0.64402	D	0.000002	T	0.04907	0.0132	L	0.46157	1.445	0.38015	D	0.934673	B;B;B	0.30146	0.27;0.27;0.177	B;B;B	0.37015	0.239;0.239;0.12	T	0.41197	-0.9522	10	0.41790	T	0.15	.	12.1564	0.54079	0.0:0.0671:0.0:0.9329	.	463;463;463	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	V	463;463;463;463;377	ENSP00000417078:E463V;ENSP00000309296:E463V;ENSP00000444247:E463V;ENSP00000330113:E463V;ENSP00000419862:E377V	ENSP00000309296:E463V	E	-	2	0	DHX36	155501150	1.000000	0.71417	0.933000	0.37362	0.938000	0.57974	5.771000	0.68881	1.097000	0.41459	0.528000	0.53228	GAA		0.308	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1		NM_020865	
DISP1	84976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	223178568	223178568	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr1:223178568T>C	ENST00000284476.6	+	8	3993	c.3829T>C	c.(3829-3831)Tac>Cac	p.Y1277H		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1277					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.Y1277H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCCAGATGCCTACAAACACTT	0.517																																																	1	Substitution - Missense(1)	kidney(1)											134.0	123.0	127.0					1																	223178568		2203	4300	6503	SO:0001583	missense	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3829T>C	1.37:g.223178568T>C	ENSP00000284476:p.Tyr1277His		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.883490	0.51908	.	.	ENSG00000154309	ENST00000284476	D	0.92752	-3.1	5.82	5.82	0.92795	.	0.321128	0.31145	N	0.008169	D	0.88175	0.6366	L	0.34521	1.04	0.32011	N	0.602141	B	0.18461	0.028	B	0.17433	0.018	D	0.87728	0.2577	10	0.87932	D	0	-31.4258	14.7488	0.69508	0.0:0.0:0.0:1.0	.	1277	Q96F81	DISP1_HUMAN	H	1277	ENSP00000284476:Y1277H	ENSP00000284476:Y1277H	Y	+	1	0	DISP1	221245191	1.000000	0.71417	0.792000	0.32020	0.350000	0.29205	3.640000	0.54350	2.225000	0.72522	0.459000	0.35465	TAC		0.517	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1		NM_032890	
DMPK	1760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46281778	46281778	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr19:46281778G>A	ENST00000291270.4	-	5	679	c.554C>T	c.(553-555)tCg>tTg	p.S185L	DMPK_ENST00000600757.1_Missense_Mutation_p.S195L|DMPK_ENST00000343373.4_Missense_Mutation_p.S195L|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000447742.2_Missense_Mutation_p.S185L|DMPK_ENST00000458663.2_Missense_Mutation_p.S185L|DMPK_ENST00000354227.5_Missense_Mutation_p.S185L	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	185	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)	p.S195L(1)|p.S185L(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCGGTGCACCGAGTCTATGGC	0.627																																					Esophageal Squamous(35;307 869 9153 24033 28903)												2	Substitution - Missense(2)	kidney(2)											72.0	66.0	68.0					19																	46281778		2203	4300	6503	SO:0001583	missense	1760			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.554C>T	19.37:g.46281778G>A	ENSP00000291270:p.Ser185Leu		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	g	36	5.601829	0.96614	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.37393	N	0.002120	T	0.73753	0.3627	L	0.46947	1.48	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.95;0.999;0.999;0.998;0.996;1.0;0.996;1.0	T	0.76094	-0.3085	10	0.87932	D	0	.	15.7624	0.78096	0.0:0.0:1.0:0.0	.	185;185;211;185;185;185;232;195	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	L	185;211;185;185;185;195;195;185	ENSP00000401753:S185L;ENSP00000291270:S185L;ENSP00000413417:S185L;ENSP00000345997:S195L;ENSP00000346168:S185L	ENSP00000291270:S185L	S	-	2	0	DMPK	50973618	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	9.308000	0.96247	2.579000	0.87056	0.655000	0.94253	TCG		0.627	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1		NM_004409	
DNAH10	196385	broad.mit.edu;hgsc.bcm.edu	37	12	124371778	124371778	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr12:124371778C>G	ENST00000409039.3	+	51	8584	c.8559C>G	c.(8557-8559)aaC>aaG	p.N2853K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2853	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N2853K(1)|p.N1445K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGATTGAGAACAAAGCGATGA	0.532																																																	2	Substitution - Missense(2)	kidney(2)											63.0	65.0	64.0					12																	124371778		1964	4158	6122	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8559C>G	12.37:g.124371778C>G	ENSP00000386770:p.Asn2853Lys		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	7.755	0.704143	0.15172	.	.	ENSG00000197653	ENST00000409039	T	0.53857	0.6	5.02	4.12	0.48240	Dynein heavy chain, P-loop containing D4 domain (1);	0.064498	0.64402	U	0.000013	T	0.48995	0.1531	M	0.69823	2.125	0.41689	D	0.989337	B	0.28128	0.201	B	0.32090	0.14	T	0.41538	-0.9503	10	0.21014	T	0.42	.	8.2051	0.31449	0.0:0.7083:0.0:0.2917	.	2853	Q8IVF4	DYH10_HUMAN	K	2853	ENSP00000386770:N2853K	ENSP00000386770:N2853K	N	+	3	2	DNAH10	122937731	1.000000	0.71417	0.997000	0.53966	0.231000	0.25187	0.745000	0.26259	1.328000	0.45358	0.591000	0.81541	AAC		0.532	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			
EBNA1BP2	10969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43637236	43637236	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr1:43637236C>A	ENST00000236051.2	-	3	378	c.237G>T	c.(235-237)gaG>gaT	p.E79D	EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.E134D|WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank|EBNA1BP2_ENST00000472982.1_5'UTR	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	79					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E79D(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATCCACCGATCTCCGGTACCG	0.502																																																	1	Substitution - Missense(1)	kidney(1)											171.0	166.0	168.0					1																	43637236		2203	4300	6503	SO:0001583	missense	10969			U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.237G>T	1.37:g.43637236C>A	ENSP00000236051:p.Glu79Asp		Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	CCDS478.1	.	.	.	.	.	.	.	.	.	.	C	4.152	0.026608	0.08054	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.48522	0.81;0.85	5.91	-0.822	0.10819	.	0.298915	0.41294	N	0.000911	T	0.21186	0.0510	N	0.17764	0.52	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.16722	0.016;0.002;0.002	T	0.10497	-1.0627	10	0.12766	T	0.61	-15.3178	0.9693	0.01412	0.2488:0.2352:0.1007:0.4153	.	79;79;79	B4DHA6;Q6IB29;Q99848	.;.;EBP2_HUMAN	D	134;79	ENSP00000407323:E134D;ENSP00000236051:E79D	ENSP00000236051:E79D	E	-	3	2	EBNA1BP2	43409823	0.033000	0.19621	0.000000	0.03702	0.000000	0.00434	-0.032000	0.12266	-0.438000	0.07232	-0.813000	0.03139	GAG		0.502	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			
FLG2	388698	broad.mit.edu;ucsc.edu	37	1	152324635	152324635	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr1:152324635C>A	ENST00000388718.5	-	3	5699	c.5627G>T	c.(5626-5628)aGg>aTg	p.R1876M	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1876					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R1876M(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGATCTCCTTCTTCCAGT	0.507																																																	1	Substitution - Missense(1)	kidney(1)											330.0	294.0	306.0					1																	152324635		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5627G>T	1.37:g.152324635C>A	ENSP00000373370:p.Arg1876Met		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524253	0.44866	.	.	ENSG00000143520	ENST00000388718	T	0.04119	3.7	4.43	3.51	0.40186	.	.	.	.	.	T	0.07279	0.0184	M	0.65975	2.015	0.09310	N	1	D	0.76494	0.999	P	0.62885	0.908	T	0.18935	-1.0321	9	0.46703	T	0.11	-0.9508	8.9474	0.35767	0.0:0.897:0.0:0.103	.	1876	Q5D862	FILA2_HUMAN	M	1876	ENSP00000373370:R1876M	ENSP00000373370:R1876M	R	-	2	0	FLG2	150591259	.	.	0.008000	0.14137	0.026000	0.11368	.	.	1.246000	0.43901	0.543000	0.68304	AGG		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342	
MROH2B	133558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	41064635	41064635	+	Silent	SNP	G	G	T	rs374206277		TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr5:41064635G>T	ENST00000399564.4	-	5	849	c.399C>A	c.(397-399)ctC>ctA	p.L133L		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	133								p.L133L(1)									TTTGCATGGTGAGCAGGGTCA	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											87.0	84.0	84.0					5																	41064635		1936	4164	6100	SO:0001819	synonymous_variant	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.399C>A	5.37:g.41064635G>T			Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	CCDS47202.1																																																																																				0.463	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2		NM_173489	
HEXDC	284004	broad.mit.edu;ucsc.edu	37	17	80394586	80394586	+	Silent	SNP	C	C	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr17:80394586C>T	ENST00000327949.9	+	6	686	c.675C>T	c.(673-675)taC>taT	p.Y225Y	HEXDC_ENST00000337014.6_Silent_p.Y225Y|HEXDC_ENST00000577944.1_Silent_p.Y225Y			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	225					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)	p.Y225Y(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCTGGGACTACACGGCCGACC	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	83.0	78.0					17																	80394586		2150	4269	6419	SO:0001819	synonymous_variant	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.675C>T	17.37:g.80394586C>T			B7UUP6|Q8IYN4|Q8TE81	Silent	SNP	ENST00000327949.9	37																																																																																					0.657	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1		NM_173620	
HLA-E	3133	broad.mit.edu;hgsc.bcm.edu	37	6	30457316	30457316	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr6:30457316A>G	ENST00000376630.4	+	1	73	c.8A>G	c.(7-9)gAt>gGt	p.D3G		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	3					antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)	p.D3G(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						ATCATGGTAGATGGAACCCTC	0.582																																																	1	Substitution - Missense(1)	kidney(1)											78.0	83.0	81.0					6																	30457316		2203	4300	6503	SO:0001583	missense	3133			M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.8A>G	6.37:g.30457316A>G	ENSP00000365817:p.Asp3Gly		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	ENST00000376630.4	37	CCDS34379.1	.	.	.	.	.	.	.	.	.	.	a	4.087	0.014150	0.07959	.	.	ENSG00000204592	ENST00000376630	T	0.00662	5.93	0.885	-1.77	0.07982	.	2412.190000	0.00669	U	0.000627	T	0.00144	0.0004	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50118	-0.8865	10	0.87932	D	0	.	0.0901	0.00039	0.2534:0.237:0.2464:0.2631	.	3	Q6DU44	.	G	3	ENSP00000365817:D3G	ENSP00000365817:D3G	D	+	2	0	HLA-E	30565295	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.899000	0.04101	-1.716000	0.01387	-1.112000	0.02068	GAT		0.582	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2		NM_005516	
IGSF10	285313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	151165112	151165112	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr3:151165112G>A	ENST00000282466.3	-	4	2656	c.2657C>T	c.(2656-2658)aCc>aTc	p.T886I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	886					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.T886I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGTTGATTGGTTGTGCCTTG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											358.0	357.0	357.0					3																	151165112		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2657C>T	3.37:g.151165112G>A	ENSP00000282466:p.Thr886Ile		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	9.795	1.179102	0.21787	.	.	ENSG00000152580	ENST00000282466	T	0.68903	-0.36	5.41	-2.63	0.06133	.	1.367560	0.04948	N	0.459768	T	0.39253	0.1071	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.11421	-1.0588	10	0.34782	T	0.22	.	0.8884	0.01249	0.2716:0.102:0.2872:0.3392	.	886	Q6WRI0	IGS10_HUMAN	I	886	ENSP00000282466:T886I	ENSP00000282466:T886I	T	-	2	0	IGSF10	152647802	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	-0.802000	0.04545	-0.316000	0.08690	0.591000	0.81541	ACC		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1		NM_178822	
INPP5K	51763	hgsc.bcm.edu	37	17	1401343	1401344	+	Frame_Shift_Ins	INS	-	-	G	rs149283703		TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr17:1401343_1401344insG	ENST00000421807.2	-	8	1237_1238	c.849_850insC	c.(847-852)cccgacfs	p.D284fs	INPP5K_ENST00000397335.3_Frame_Shift_Ins_p.D192fs|INPP5K_ENST00000542125.1_Frame_Shift_Ins_p.D188fs|INPP5K_ENST00000320345.6_Frame_Shift_Ins_p.D208fs|INPP5K_ENST00000406424.4_Frame_Shift_Ins_p.D208fs	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	284	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						ATGGGAGTGTCGGGGCCAGCAC	0.614																																																	0									,,	4,4260		0,4,2128					,,	-8.4	0.0			115	15,8237		0,15,4111	no	frameshift,frameshift,frameshift	INPP5K	NM_130766.2,NM_016532.3,NM_001135642.1	,,	0,19,6239	A1A1,A1R,RR		0.1818,0.0938,0.1518	,,	,,		19,12497				SO:0001589	frameshift_variant	51763				CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"""skeletal muscle and kidney enriched inositol phosphatase"""	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.850dupC	17.37:g.1401347_1401347dupG	ENSP00000413937:p.Asp284fs		B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Frame_Shift_Ins	INS	ENST00000421807.2	37	CCDS11004.1																																																																																				0.614	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4			
IPO9	55705	hgsc.bcm.edu	37	1	201827615	201827623	+	In_Frame_Del	DEL	TGGCTGCTG	TGGCTGCTG	-	rs201551339		TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	TGGCTGCTG	TGGCTGCTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr1:201827615_201827623delTGGCTGCTG	ENST00000361565.4	+	12	1331_1339	c.1262_1270delTGGCTGCTG	c.(1261-1272)ctggctgctgca>cca	p.421_424LAAA>P		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	421					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GCAGCAGCCCTGGCTGCTGCAGCCACTCG	0.435																																																	0																																										SO:0001651	inframe_deletion	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1262_1270delTGGCTGCTG	1.37:g.201827615_201827623delTGGCTGCTG	ENSP00000354742:p.Leu421_Ala424delinsPro		B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	In_Frame_Del	DEL	ENST00000361565.4	37	CCDS1415.1																																																																																				0.435	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1		NM_018085	
IRAK1	3654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153283528	153283528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chrX:153283528G>A	ENST00000369980.3	-	7	1005	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	IRAK1_ENST00000393687.2_Nonsense_Mutation_p.Q280*|IRAK1_ENST00000393682.1_Nonsense_Mutation_p.Q306*|IRAK1_ENST00000429936.2_Nonsense_Mutation_p.Q306*|IRAK1_ENST00000369974.2_Nonsense_Mutation_p.Q280*|IRAK1_ENST00000477274.1_5'UTR|MIR718_ENST00000390190.2_RNA	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.Q280*(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCGTTCTGAGCACAGTAG	0.602																																																	2	Substitution - Nonsense(2)	kidney(2)											125.0	89.0	101.0					X																	153283528		2203	4300	6503	SO:0001587	stop_gained	3654			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.838C>T	X.37:g.153283528G>A	ENSP00000358997:p.Gln280*		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Nonsense_Mutation	SNP	ENST00000369980.3	37	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	32|32	5.112105|5.112105	0.94339|0.94339	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936|ENST00000443220	.|.	.|.	.|.	5.07|5.07	0.958|0.958	0.19619|0.19619	.|.	0.462954|.	0.18626|.	N|.	0.135720|.	.|T	.|0.70535	.|0.3235	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74478	.|-0.3652	.|3	0.54805|.	T|.	0.06|.	-10.2744|-10.2744	18.1033|18.1033	0.89513|0.89513	0.0:0.7255:0.2745:0.0|0.0:0.7255:0.2745:0.0	.|.	.|.	.|.	.|.	X|L	280;280;306;280;306|50	.|.	ENSP00000358991:Q280X|.	Q|S	-|-	1|2	0|0	IRAK1|IRAK1	152936722|152936722	0.670000|0.670000	0.27512|0.27512	0.099000|0.099000	0.21106|0.21106	0.529000|0.529000	0.34654|0.34654	1.251000|1.251000	0.32862|0.32862	0.041000|0.041000	0.15688|0.15688	0.529000|0.529000	0.55759|0.55759	CAG|TCA		0.602	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			
KLHL1	57626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	70681442	70681442	+	Silent	SNP	C	C	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr13:70681442C>A	ENST00000377844.4	-	1	1149	c.390G>T	c.(388-390)gtG>gtT	p.V130V	ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	130					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.V130V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCATGCCTGGCACCACCTCCT	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											97.0	79.0	85.0					13																	70681442		2203	4300	6503	SO:0001819	synonymous_variant	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.390G>T	13.37:g.70681442C>A			A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	CCDS9445.1																																																																																				0.582	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3		NM_020866	
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																																	3	Deletion - In frame(3)	prostate(2)|central_nervous_system(1)								1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1		NM_006121	
LARP4	113251	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	50821653	50821653	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr12:50821653T>A	ENST00000398473.2	+	2	239	c.127T>A	c.(127-129)Tgg>Agg	p.W43R	LARP4_ENST00000347328.5_Missense_Mutation_p.W43R|LARP4_ENST00000518444.1_Missense_Mutation_p.W42R|LARP4_ENST00000518561.1_5'UTR|LARP4_ENST00000293618.8_Missense_Mutation_p.W43R|LARP4_ENST00000429001.3_Missense_Mutation_p.W43R|LARP4_ENST00000522085.1_Missense_Mutation_p.W43R	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	43					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.W43R(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TGAAAGCTCTTGGCATGAAAT	0.398																																																	1	Substitution - Missense(1)	kidney(1)											94.0	88.0	90.0					12																	50821653		1865	4103	5968	SO:0001583	missense	113251			AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.127T>A	12.37:g.50821653T>A	ENSP00000381490:p.Trp43Arg		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.438936	0.83885	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000548174;ENST00000398473;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000551886;ENST00000520064;ENST00000347328;ENST00000550260	T;T;T;T;T;T	0.58210	1.05;0.79;0.86;0.35;0.9;0.97	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.71221	0.3314	M	0.69823	2.125	0.48901	D	0.999727	D;D;P;D;D	0.89917	1.0;0.999;0.569;1.0;1.0	D;D;P;D;D	0.97110	0.999;0.997;0.55;0.999;1.0	T	0.74799	-0.3542	10	0.87932	D	0	.	14.0867	0.64962	0.0:0.0:0.0:1.0	.	42;43;43;43;43	Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	R	43;43;51;43;43;43;42;43;42;43;42	ENSP00000293618:W43R;ENSP00000415464:W43R;ENSP00000381490:W43R;ENSP00000429781:W43R;ENSP00000429077:W42R;ENSP00000340901:W43R	ENSP00000293618:W43R	W	+	1	0	LARP4	49107920	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.452000	0.60054	2.126000	0.65437	0.533000	0.62120	TGG		0.398	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1		NM_052879	
LETMD1	25875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	51450212	51450212	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr12:51450212C>G	ENST00000262055.4	+	7	881	c.842C>G	c.(841-843)aCt>aGt	p.T281S	LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.T225S|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000552739.1_Missense_Mutation_p.T164S|LETMD1_ENST00000547008.1_Missense_Mutation_p.T157S|LETMD1_ENST00000418425.2_Missense_Mutation_p.T294S	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	281	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.T281S(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ACTCATACAACTGTGATTCAC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											143.0	127.0	133.0					12																	51450212		2203	4300	6503	SO:0001583	missense	25875			AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.842C>G	12.37:g.51450212C>G	ENSP00000262055:p.Thr281Ser		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	CCDS8806.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	2.899|2.899|2.899	-0.228013|-0.228013|-0.228013	0.06022|0.06022|0.06022	.|.|.	.|.|.	ENSG00000050426|ENSG00000050426|ENSG00000050426	ENST00000551931|ENST00000553043|ENST00000551477;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000548251;ENST00000550814;ENST00000547660;ENST00000418425;ENST00000448283;ENST00000547008;ENST00000552739;ENST00000547256	.|.|T;T;T;T;T;T;T;T;T	.|.|0.40756	.|.|1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.49|5.49|5.49	3.66|3.66|3.66	0.41972|0.41972|0.41972	.|.|LETM1-like (1);	.|.|0.688768	.|.|0.15028	.|.|N	.|.|0.284649	T|T|T	0.30665|0.30665|0.30665	0.0772|0.0772|0.0772	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	0.21499|0.21499|0.21499	N|N|N	0.99967|0.99967|0.99967	.|B;B|B;B;P;B;B	.|0.18610|0.48089	.|0.029;0.022|0.328;0.125;0.905;0.274;0.125	.|B;B|B;B;P;B;B	.|0.13407|0.45276	.|0.009;0.008|0.085;0.183;0.475;0.16;0.119	T|T|T	0.06789|0.06789|0.06789	-1.0807|-1.0807|-1.0807	5|8|10	.|0.87932|0.16896	.|D|T	.|0|0.51	-1.2913|-1.2913|-1.2913	4.6194|4.6194|4.6194	0.12442|0.12442|0.12442	0.0:0.5955:0.1688:0.2357|0.0:0.5955:0.1688:0.2357|0.0:0.5955:0.1688:0.2357	.|.|.	.|118;118|231;294;157;164;281	.|B7Z9A7;F8W6J0|F8VVQ3;B3KXK7;F8W1Z2;F8VP71;Q6P1Q0	.|.;.|.;.;.;.;LTMD1_HUMAN	V|K|S	65|49|248;225;281;231;164;89;36;294;231;157;164;63	.|.|ENSP00000446862:T248S;ENSP00000450163:T225S;ENSP00000262055:T281S;ENSP00000449896:T231S;ENSP00000447166:T164S;ENSP00000450391:T36S;ENSP00000389903:T294S;ENSP00000447419:T157S;ENSP00000450333:T164S	.|ENSP00000369478:N118K|ENSP00000262055:T281S	L|N|T	+|+|+	1|3|2	2|2|0	LETMD1|LETMD1|LETMD1	49736479|49736479|49736479	0.027000|0.027000|0.027000	0.19231|0.19231|0.19231	0.943000|0.943000|0.943000	0.38184|0.38184|0.38184	0.021000|0.021000|0.021000	0.10359|0.10359|0.10359	0.386000|0.386000|0.386000	0.20702|0.20702|0.20702	1.473000|1.473000|1.473000	0.48159|0.48159|0.48159	-0.140000|-0.140000|-0.140000	0.14226|0.14226|0.14226	CTG|AAC|ACT		0.488	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1		NM_015416	
LIFR	3977	hgsc.bcm.edu;ucsc.edu	37	5	38486023	38486023	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr5:38486023delC	ENST00000263409.4	-	17	2557	c.2395delG	c.(2395-2397)gctfs	p.A799fs	LIFR_ENST00000453190.2_Frame_Shift_Del_p.A799fs	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	799	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGAAGATCAGCAATTCTCAGT	0.398			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													125.0	115.0	118.0					5																	38486023		2203	4300	6503	SO:0001589	frameshift_variant	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2395delG	5.37:g.38486023delC	ENSP00000263409:p.Ala799fs		Q6LCD9	Frame_Shift_Del	DEL	ENST00000263409.4	37	CCDS3927.1																																																																																				0.398	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1		NM_002310	
MCF2	4168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	138713618	138713618	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chrX:138713618T>A	ENST00000370576.4	-	3	433	c.224A>T	c.(223-225)cAa>cTa	p.Q75L	MCF2_ENST00000370578.4_Missense_Mutation_p.Q220L|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000520602.1_Missense_Mutation_p.Q135L|MCF2_ENST00000338585.6_Missense_Mutation_p.Q75L|MCF2_ENST00000414978.1_Missense_Mutation_p.Q135L|MCF2_ENST00000519895.1_Missense_Mutation_p.Q135L|MCF2_ENST00000370573.4_Missense_Mutation_p.Q75L	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	75	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q75L(2)|p.Q135L(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGGGGTTAATTGCTTGTCATC	0.408																																																	3	Substitution - Missense(3)	kidney(3)											178.0	141.0	154.0					X																	138713618		2203	4300	6503	SO:0001583	missense	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.224A>T	X.37:g.138713618T>A	ENSP00000359608:p.Gln75Leu		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575638	0.86645	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.91	5.91	0.95273	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84179	0.5415	M	0.88450	2.955	0.48696	D	0.999694	D;D;D;D;D;D	0.76494	0.999;0.994;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.83275	0.996;0.953;0.994;0.996;0.973;0.996	D	0.87229	0.2259	10	0.87932	D	0	.	13.9959	0.64402	0.0:0.0:0.0:1.0	.	135;220;75;220;75;75	E9PH77;B7Z3Z2;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;MCF2_HUMAN	L	135;75;220;135;135;75;75	ENSP00000427745:Q135L;ENSP00000359608:Q75L;ENSP00000359610:Q220L;ENSP00000397055:Q135L;ENSP00000430276:Q135L;ENSP00000359605:Q75L;ENSP00000342204:Q75L	ENSP00000342204:Q75L	Q	-	2	0	MCF2	138541284	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.391000	0.79828	1.986000	0.57962	0.481000	0.45027	CAA		0.408	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1		NM_005369	
MEFV	4210	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3304667	3304667	+	Missense_Mutation	SNP	G	G	A	rs377250147		TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr16:3304667G>A	ENST00000219596.1	-	2	440	c.401C>T	c.(400-402)cCg>cTg	p.P134L	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	134					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.P134L(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GCCCCCGTACGGCCGAGGGCC	0.692																																																	1	Substitution - Missense(1)	kidney(1)						G	,LEU/PRO	1,4357		0,1,2178	16.0	18.0	18.0		,401	0.6	0.0	16		18	0,8522		0,0,4261	no	intron,missense	MEFV	NM_001198536.1,NM_000243.2	,98	0,1,6439	AA,AG,GG		0.0,0.0229,0.0078	,benign	,134/782	3304667	1,12879	2179	4261	6440	SO:0001583	missense	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.401C>T	16.37:g.3304667G>A	ENSP00000219596:p.Pro134Leu		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347675	0.24426	2.29E-4	0.0	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.62941	-0.01	4.08	0.61	0.17580	.	0.440226	0.19374	N	0.115839	T	0.33030	0.0849	N	0.08118	0	0.09310	N	1	B	0.25105	0.118	B	0.14578	0.011	T	0.11567	-1.0582	10	0.33940	T	0.23	-15.6301	4.9534	0.14027	0.0:0.1027:0.3087:0.5887	.	134	O15553	MEFV_HUMAN	L	134	ENSP00000219596:P134L	ENSP00000219596:P134L	P	-	2	0	MEFV	3244668	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.448000	0.21726	0.065000	0.16485	-0.470000	0.05040	CCG		0.692	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1		NM_000243	
MFSD1	64747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	158523240	158523240	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr3:158523240G>T	ENST00000264266.8	+	3	368	c.306G>T	c.(304-306)ttG>ttT	p.L102F	MFSD1_ENST00000392813.4_Intron|MFSD1_ENST00000415822.2_Missense_Mutation_p.L151F			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	102					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.L102F(1)|p.L151F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTGGCTTTTTGATAGACCGAG	0.358																																					Pancreas(62;1186 1654 36636 37908)												2	Substitution - Missense(2)	kidney(2)											212.0	196.0	201.0					3																	158523240		2203	4300	6503	SO:0001583	missense	64747			BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.306G>T	3.37:g.158523240G>T	ENSP00000264266:p.Leu102Phe		B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37		.	.	.	.	.	.	.	.	.	.	G	18.03	3.531458	0.64972	.	.	ENSG00000118855	ENST00000486568;ENST00000465739;ENST00000415822;ENST00000264266;ENST00000361159;ENST00000474670;ENST00000482835	T;D;T;T;T;D	0.85861	-0.33;-2.04;-0.29;-0.29;-0.29;-2.04	5.57	3.77	0.43336	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91375	0.7279	M	0.81239	2.535	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.91362	0.5112	10	0.52906	T	0.07	.	11.5025	0.50446	0.1505:0.0:0.8495:0.0	.	102	Q9H3U5	MFSD1_HUMAN	F	86;29;151;102;102;75;91	ENSP00000417414:L86F;ENSP00000418055:L29F;ENSP00000403117:L151F;ENSP00000264266:L102F;ENSP00000419708:L75F;ENSP00000418503:L91F	ENSP00000264266:L102F	L	+	3	2	MFSD1	160005934	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.644000	0.37228	1.358000	0.45922	-0.262000	0.10625	TTG		0.358	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1		NM_022736	
MVP	9961	broad.mit.edu	37	16	29853112	29853112	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr16:29853112C>A	ENST00000357402.5	+	9	1525	c.1387C>A	c.(1387-1389)Ccc>Acc	p.P463T	MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.P463T	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	463					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)	p.P463T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CTACCGCGTGCCCCACAACGC	0.662																																																	1	Substitution - Missense(1)	kidney(1)											46.0	41.0	43.0					16																	29853112		2197	4300	6497	SO:0001583	missense	9961			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1387C>A	16.37:g.29853112C>A	ENSP00000349977:p.Pro463Thr		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160328	0.78226	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.39592	1.07;1.07	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.73768	0.3629	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79415	-0.1813	10	0.72032	D	0.01	-16.8814	17.825	0.88662	0.0:1.0:0.0:0.0	.	463	Q14764	MVP_HUMAN	T	463	ENSP00000349977:P463T;ENSP00000378760:P463T	ENSP00000349977:P463T	P	+	1	0	MVP	29760613	1.000000	0.71417	0.181000	0.23098	0.377000	0.30045	6.447000	0.73465	2.797000	0.96272	0.655000	0.94253	CCC		0.662	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3		NM_005115	
NCOR1	9611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	15964798	15964798	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr17:15964798A>G	ENST00000268712.3	-	37	6055	c.5798T>C	c.(5797-5799)aTa>aCa	p.I1933T	NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.I517T	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1933	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|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)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.I1933T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GATCACGTCTATGAAGTTAGC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											304.0	278.0	287.0					17																	15964798		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5798T>C	17.37:g.15964798A>G	ENSP00000268712:p.Ile1933Thr		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.490693	0.84962	.	.	ENSG00000141027	ENST00000268712;ENST00000395849;ENST00000395857	T;T	0.56275	0.47;0.47	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.72676	0.3490	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.997;0.994;0.999;1.0	D;D;D;D	0.87578	0.993;0.985;0.991;0.998	T	0.75642	-0.3247	10	0.66056	D	0.02	-11.622	15.4474	0.75240	1.0:0.0:0.0:0.0	.	743;1837;1933;453	B4DZ48;E7EVK1;O75376;Q86YY1	.;.;NCOR1_HUMAN;.	T	1933;1837;517	ENSP00000268712:I1933T;ENSP00000379198:I517T	ENSP00000268712:I1933T	I	-	2	0	NCOR1	15905523	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.901000	0.92560	2.247000	0.74100	0.528000	0.53228	ATA		0.478	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311	
NELL1	4745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	21250960	21250960	+	Silent	SNP	C	C	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr11:21250960C>T	ENST00000357134.5	+	14	1661	c.1509C>T	c.(1507-1509)acC>acT	p.T503T	NELL1_ENST00000298925.5_Silent_p.T531T|NELL1_ENST00000532434.1_Silent_p.T503T|NELL1_ENST00000325319.5_Silent_p.T446T	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	503	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.T503T(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACAGCTGCACCTGCAAACCGG	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											108.0	77.0	88.0					11																	21250960		2203	4300	6503	SO:0001819	synonymous_variant	4745			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1509C>T	11.37:g.21250960C>T			B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	CCDS7855.1																																																																																				0.572	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1		NM_006157	
NOP14	8602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	2955338	2955338	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr4:2955338T>C	ENST00000314262.6	-	5	695	c.647A>G	c.(646-648)gAg>gGg	p.E216G	NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.E216G|NOP14_ENST00000416614.2_Missense_Mutation_p.E216G|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.E216G	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	216					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.E216G(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTCCGTGAGCTCGAGGGCATC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											260.0	242.0	248.0					4																	2955338		2203	4300	6503	SO:0001583	missense	8602			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.647A>G	4.37:g.2955338T>C	ENSP00000315674:p.Glu216Gly		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.672890	0.67928	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	4.64	4.64	0.57946	.	0.055041	0.64402	D	0.000001	T	0.60650	0.2285	M	0.88704	2.975	0.53688	D	0.99997	D;D	0.67145	0.992;0.996	D;D	0.65874	0.939;0.939	T	0.67039	-0.5771	10	0.87932	D	0	-39.3663	8.7496	0.34607	0.0:0.0867:0.0:0.9133	.	216;216	E9PFK5;P78316	.;NOP14_HUMAN	G	216;216;216;216;115	ENSP00000405068:E216G;ENSP00000315674:E216G;ENSP00000427415:E216G;ENSP00000381146:E216G	ENSP00000315674:E216G	E	-	2	0	NOP14	2925136	1.000000	0.71417	0.995000	0.50966	0.671000	0.39405	7.540000	0.82074	1.867000	0.54127	0.402000	0.26972	GAG		0.478	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2		NM_003703	
NRBP1	29959	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27663740	27663740	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr2:27663740C>T	ENST00000233557.3	+	15	2094	c.1262C>T	c.(1261-1263)aCa>aTa	p.T421I	NRBP1_ENST00000379863.3_Missense_Mutation_p.T429I|KRTCAP3_ENST00000288873.3_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|NRBP1_ENST00000379852.3_Missense_Mutation_p.T421I|KRTCAP3_ENST00000543753.1_5'Flank			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	421					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.T421I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GAGGAGGTGACATCACCTGTC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											62.0	63.0	63.0					2																	27663740		2203	4300	6503	SO:0001583	missense	29959			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1262C>T	2.37:g.27663740C>T	ENSP00000233557:p.Thr421Ile		B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895344	0.33442	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.29142	1.58;1.58;1.58	5.95	5.95	0.96441	.	0.044063	0.85682	D	0.000000	T	0.14313	0.0346	N	0.02539	-0.55	0.35126	D	0.767502	B;B;B	0.20459	0.045;0.0;0.0	B;B;B	0.21546	0.035;0.004;0.002	T	0.21759	-1.0236	10	0.33141	T	0.24	-8.8035	12.6205	0.56600	0.2561:0.7439:0.0:0.0	.	401;429;421	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	I	421;401;421;429	ENSP00000233557:T421I;ENSP00000369181:T421I;ENSP00000369192:T429I	ENSP00000233557:T421I	T	+	2	0	NRBP1	27517244	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.151000	0.58105	2.821000	0.97095	0.561000	0.74099	ACA		0.602	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1		NM_013392	
NRXN1	9378	broad.mit.edu	37	2	50724852	50724852	+	Splice_Site	SNP	C	C	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr2:50724852C>G	ENST00000406316.2	-	14	3974	c.2498G>C	c.(2497-2499)gGt>gCt	p.G833A	NRXN1_ENST00000401669.2_Splice_Site_p.G833A|NRXN1_ENST00000404971.1_Splice_Site_p.G873A|NRXN1_ENST00000402717.3_Splice_Site_p.G825A|NRXN1_ENST00000405472.3_Splice_Site_p.G825A|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Splice_Site_p.G833A|NRXN1_ENST00000401710.1_5'Flank	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	833	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G874A(1)|p.G873A(1)|p.G833A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCCATTTGACCTAAAAGAGA	0.373																																																	3	Substitution - Missense(3)	kidney(3)											69.0	64.0	66.0					2																	50724852		1877	4098	5975	SO:0001630	splice_region_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2498-1G>C	2.37:g.50724852C>G			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359664	0.82353	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.86188	0.5873	M	0.67569	2.06	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.974;1.0;1.0	T	0.79619	-0.1728	10	0.08179	T	0.78	.	20.434	0.99088	0.0:1.0:0.0:0.0	.	873;833;825	Q9ULB1-3;F8WB18;A7E294	.;.;.	A	873;833;825;833;874;825;833	ENSP00000385142:G873A;ENSP00000384311:G833A;ENSP00000434015:G825A;ENSP00000385017:G833A;ENSP00000385434:G825A;ENSP00000385681:G833A	ENSP00000385017:G833A	G	-	2	0	NRXN1	50578356	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.625000	0.83145	2.838000	0.97847	0.561000	0.74099	GGT		0.373	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			Missense_Mutation
OR4N2	390429	hgsc.bcm.edu	37	14	20296055	20296056	+	Frame_Shift_Ins	INS	-	-	T	rs149523724		TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr14:20296055_20296056insT	ENST00000315947.1	+	1	448_449	c.448_449insT	c.(448-450)cttfs	p.L150fs	OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.L150fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTCTGTGGCTTGGGGGTTTT	0.53																																																	0																																										SO:0001589	frameshift_variant	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.450dupT	14.37:g.20296057_20296057dupT	ENSP00000319601:p.Leu150fs		Q6IEY9|Q6IFA2	Frame_Shift_Ins	INS	ENST00000315947.1	37	CCDS32022.1																																																																																				0.530	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			
OR51F1	256892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4790883	4790883	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr11:4790883A>T	ENST00000380383.1	-	1	285	c.286T>A	c.(286-288)Ttt>Att	p.F96I	MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.F89I|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F89I(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CGTGCCTCAAACCAGAGGATA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											76.0	73.0	74.0					11																	4790883		2201	4298	6499	SO:0001583	missense	256892			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.286T>A	11.37:g.4790883A>T	ENSP00000369744:p.Phe96Ile			Missense_Mutation	SNP	ENST00000380383.1	37		.	.	.	.	.	.	.	.	.	.	a	10.75	1.438561	0.25900	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.02763	4.17;4.17	4.91	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	0.268827	0.27048	N	0.021197	T	0.06645	0.0170	M	0.89658	3.05	0.26680	N	0.971567	P	0.51147	0.942	B	0.43251	0.413	T	0.35276	-0.9795	10	0.62326	D	0.03	.	3.3022	0.06987	0.6496:0.0:0.1801:0.1703	.	96	A6NGY5	O51F1_HUMAN	I	89;96	ENSP00000345163:F89I;ENSP00000369744:F96I	ENSP00000345163:F89I	F	-	1	0	OR51F1	4747459	0.651000	0.27340	0.996000	0.52242	0.255000	0.26057	1.199000	0.32235	0.914000	0.36822	-0.369000	0.07265	TTT		0.428	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001004752	
ORC4	5000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	148693257	148693257	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr2:148693257T>C	ENST00000392857.5	-	14	1240	c.1133A>G	c.(1132-1134)cAc>cGc	p.H378R	ORC4_ENST00000535373.1_Missense_Mutation_p.H378R|ORC4_ENST00000488761.1_5'Flank|ORC4_ENST00000540442.1_Missense_Mutation_p.H304R|ORC4_ENST00000542387.1_Missense_Mutation_p.H161R|ORC4_ENST00000536575.1_Missense_Mutation_p.H294R|ORC4_ENST00000392858.1_Missense_Mutation_p.H378R|ORC4_ENST00000264169.2_Missense_Mutation_p.H378R	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	378					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.H378R(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TTGCTGCAAGTGTTCAAAAGC	0.383																																																	1	Substitution - Missense(1)	kidney(1)											84.0	87.0	86.0					2																	148693257		2203	4300	6503	SO:0001583	missense	5000			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"""ATPases / AAA-type"""	8490	protein-coding gene	gene with protein product		603056	"""origin recognition complex, subunit 4 (yeast homolog)-like"", ""origin recognition complex, subunit 4-like (yeast)"", ""origin recognition complex, subunit 4-like (S. cerevisiae)"", ""origin recognition complex, subunit 4 homolog (S. cerevisiae)"""	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.1133A>G	2.37:g.148693257T>C	ENSP00000376597:p.His378Arg		B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	ENST00000392857.5	37	CCDS2187.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015545	0.75161	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857;ENST00000542387	T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.46	5.46	0.80206	.	0.095179	0.64402	D	0.000001	T	0.81828	0.4905	L	0.50993	1.605	0.80722	D	1	D	0.71674	0.998	P	0.61940	0.896	T	0.77744	-0.2473	10	0.12103	T	0.63	-12.5317	15.5338	0.75986	0.0:0.0:0.0:1.0	.	378	O43929	ORC4_HUMAN	R	378;378;378;304;294;378;161	ENSP00000264169:H378R;ENSP00000441953:H378R;ENSP00000376598:H378R;ENSP00000438326:H304R;ENSP00000441502:H294R;ENSP00000376597:H378R;ENSP00000437440:H161R	ENSP00000264169:H378R	H	-	2	0	ORC4	148409727	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.519000	0.81809	2.058000	0.61347	0.528000	0.53228	CAC		0.383	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3		NM_181742	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52620674	52620674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr3:52620674G>A	ENST00000296302.7	-	20	3155	c.3154C>T	c.(3154-3156)Cga>Tga	p.R1052*	PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1067*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1052*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1052*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1067*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R1027*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R1027*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R1020*			Q86U86	PB1_HUMAN	polybromo 1	1052	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				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.R1052*(3)|p.R1020*(2)		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)		TCCTCATCTCGGAAGTTTTCT	0.378			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	5	Substitution - Nonsense(5)	kidney(3)|central_nervous_system(2)											59.0	64.0	62.0					3																	52620674		2203	4300	6503	SO:0001587	stop_gained	55193			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.3154C>T	3.37:g.52620674G>A	ENSP00000296302:p.Arg1052*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	38	6.964974	0.97967	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.24	0.945	0.19543	.	0.148125	0.43747	D	0.000526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-38.8081	10.2479	0.43352	0.0:0.1033:0.4046:0.4922	.	.	.	.	X	1020;1027;1052;1052;1052;1027;1067;1067;1051;1010	.	ENSP00000296302:R1052X	R	-	1	2	PBRM1	52595714	0.990000	0.36364	0.995000	0.50966	0.972000	0.66771	0.386000	0.20702	0.160000	0.19432	-0.324000	0.08512	CGA		0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDHA13	56136	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140263639	140263639	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr5:140263639G>A	ENST00000289272.2	+	1	1786	c.1786G>A	c.(1786-1788)Gcg>Acg	p.A596T	PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A596T|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	596	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A596T(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGTGCGCGCGGTGGACGC	0.706																																					Melanoma(147;1739 1852 5500 27947 37288)												1	Substitution - Missense(1)	kidney(1)											62.0	67.0	65.0					5																	140263639		2202	4298	6500	SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1786G>A	5.37:g.140263639G>A	ENSP00000289272:p.Ala596Thr		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422154	0.62622	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.61392	0.11;0.11	4.21	4.21	0.49690	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85195	0.5641	H	0.98295	4.195	0.37234	D	0.905811	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.99;0.996;0.998	D	0.92959	0.6387	9	0.87932	D	0	.	16.3687	0.83346	0.0:0.0:1.0:0.0	.	596;596;596	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	T	596	ENSP00000386821:A596T;ENSP00000289272:A596T	ENSP00000289272:A596T	A	+	1	0	PCDHA13	140243823	1.000000	0.71417	0.985000	0.45067	0.423000	0.31445	5.333000	0.65917	2.144000	0.66660	0.655000	0.94253	GCG		0.706	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1		NM_018904	
PDP2	57546	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	66919397	66919397	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr16:66919397G>A	ENST00000311765.2	+	2	1544	c.1210G>A	c.(1210-1212)Gat>Aat	p.D404N	PDP2_ENST00000568720.1_Intron|RP11-61A14.2_ENST00000561475.1_lincRNA	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	404					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)	p.D404N(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GAGGCCCCAGGATAAGTTCCT	0.582																																																	1	Substitution - Missense(1)	kidney(1)											113.0	101.0	105.0					16																	66919397		2200	4300	6500	SO:0001583	missense	57546			AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.1210G>A	16.37:g.66919397G>A	ENSP00000309548:p.Asp404Asn		A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833657	0.91036	.	.	ENSG00000172840	ENST00000311765	T	0.26067	1.76	5.65	5.65	0.86999	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65965	-0.6040	10	0.59425	D	0.04	-17.2222	19.7268	0.96166	0.0:0.0:1.0:0.0	.	404	Q9P2J9	PDP2_HUMAN	N	404	ENSP00000309548:D404N	ENSP00000309548:D404N	D	+	1	0	PDP2	65476898	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.843000	0.99491	2.676000	0.91093	0.563000	0.77884	GAT		0.582	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2		NM_020786	
PXDN	7837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1664726	1664726	+	Silent	SNP	G	G	A	rs558268059		TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr2:1664726G>A	ENST00000252804.4	-	14	1814	c.1764C>T	c.(1762-1764)gaC>gaT	p.D588D		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	588	Ig-like C2-type 4.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.D588D(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGCGACCTGCGTCTGCAGGGC	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		20076	0.001		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											98.0	102.0	101.0					2																	1664726		2039	4181	6220	SO:0001819	synonymous_variant	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1764C>T	2.37:g.1664726G>A			A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	0.068	-1.207619	0.01568	.	.	ENSG00000130508	ENST00000433670	.	.	.	5.05	-6.55	0.01854	.	.	.	.	.	T	0.62196	0.2408	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65319	-0.6197	4	.	.	.	-25.229	15.011	0.71550	0.725:0.0:0.275:0.0	.	.	.	.	M	584	.	.	T	-	2	0	PXDN	1643733	0.003000	0.15002	0.002000	0.10522	0.012000	0.07955	-0.830000	0.04410	-1.250000	0.02497	-0.229000	0.12294	ACG		0.527	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1		XM_056455	
PYCR2	29920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	226109762	226109762	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr1:226109762C>A	ENST00000343818.6	-	4	484	c.336G>T	c.(334-336)caG>caT	p.Q112H	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Intron	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	112					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)	p.Q112H(1)		kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	TGGGGGCTGGCTGGAATGCCA	0.607																																																	1	Substitution - Missense(1)	kidney(1)											41.0	42.0	42.0					1																	226109762		2203	4300	6503	SO:0001583	missense	29920			AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.336G>T	1.37:g.226109762C>A	ENSP00000342502:p.Gln112His		A8K798|Q7Z515|Q9Y5J4	Missense_Mutation	SNP	ENST00000343818.6	37	CCDS31043.1	.	.	.	.	.	.	.	.	.	.	c	1.502	-0.551859	0.03996	.	.	ENSG00000143811	ENST00000343818;ENST00000316940;ENST00000316918	T	0.63417	-0.04	4.79	2.92	0.33932	NAD(P)-binding domain (1);	0.175044	0.52532	D	0.000070	T	0.40015	0.1100	N	0.16903	0.455	0.26780	N	0.969618	B;B	0.11235	0.001;0.004	B;B	0.15052	0.004;0.012	T	0.21655	-1.0239	10	0.44086	T	0.13	.	4.568	0.12196	0.174:0.6431:0.0:0.1829	.	112;111	Q96C36;E7EUS9	P5CR2_HUMAN;.	H	112;111;65	ENSP00000342502:Q112H	ENSP00000321499:Q65H	Q	-	3	2	PYCR2	224176385	0.909000	0.30893	0.987000	0.45799	0.185000	0.23345	0.010000	0.13242	0.733000	0.32492	0.655000	0.94253	CAG		0.607	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1		NM_013328	
RBM27	54439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	145610355	145610355	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr5:145610355T>C	ENST00000265271.5	+	6	891	c.725T>C	c.(724-726)gTg>gCg	p.V242A	RBM27_ENST00000506502.1_Missense_Mutation_p.V242A	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	242					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V242A(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGTTACTGTGATCGCACCT	0.463																																																	1	Substitution - Missense(1)	kidney(1)											141.0	121.0	127.0					5																	145610355		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.725T>C	5.37:g.145610355T>C	ENSP00000265271:p.Val242Ala		Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.537360	0.65085	.	.	ENSG00000091009	ENST00000265271	T	0.48522	0.81	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000004	T	0.49201	0.1543	L	0.59436	1.845	0.58432	D	0.999999	P;D	0.55605	0.93;0.972	P;P	0.49085	0.482;0.6	T	0.48885	-0.8995	10	0.06757	T	0.87	-7.8814	15.5301	0.75952	0.0:0.0:0.0:1.0	.	242;242	Q9P2N5;B3KY61	RBM27_HUMAN;.	A	242	ENSP00000265271:V242A	ENSP00000265271:V242A	V	+	2	0	RBM27	145590548	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.237000	0.65360	2.071000	0.62044	0.460000	0.39030	GTG		0.463	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1		XM_291128	
RBM27	54439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	145610357	145610357	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr5:145610357A>T	ENST00000265271.5	+	6	893	c.727A>T	c.(727-729)Atc>Ttc	p.I243F	RBM27_ENST00000506502.1_Missense_Mutation_p.I243F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	243					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I243F(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTACTGTGATCGCACCTGC	0.463																																																	1	Substitution - Missense(1)	kidney(1)											142.0	122.0	128.0					5																	145610357		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.727A>T	5.37:g.145610357A>T	ENSP00000265271:p.Ile243Phe		Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.031690	0.54790	.	.	ENSG00000091009	ENST00000265271	T	0.47528	0.84	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.51109	0.1655	L	0.55481	1.735	0.47214	D	0.99935	P;D	0.60160	0.838;0.987	B;P	0.53912	0.218;0.737	T	0.46247	-0.9205	10	0.12430	T	0.62	-8.8832	11.455	0.50176	0.9278:0.0:0.0722:0.0	.	243;243	Q9P2N5;B3KY61	RBM27_HUMAN;.	F	243	ENSP00000265271:I243F	ENSP00000265271:I243F	I	+	1	0	RBM27	145590550	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.151000	0.50670	2.071000	0.62044	0.460000	0.39030	ATC		0.463	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1		XM_291128	
RTTN	25914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	67776858	67776858	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr18:67776858A>G	ENST00000255674.6	-	28	4065	c.3779T>C	c.(3778-3780)cTg>cCg	p.L1260P	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.L1260P	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1260					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.L1260P(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAGGGACGGCAGGCCATAGAA	0.517																																																	1	Substitution - Missense(1)	kidney(1)											73.0	74.0	74.0					18																	67776858		1974	4160	6134	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3779T>C	18.37:g.67776858A>G	ENSP00000255674:p.Leu1260Pro		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207914	0.79240	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.63744	-0.06;-0.06	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000002	T	0.77909	0.4201	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80781	-0.1229	10	0.72032	D	0.01	.	14.8771	0.70501	1.0:0.0:0.0:0.0	.	1260	Q86VV8	RTTN_HUMAN	P	1260	ENSP00000255674:L1260P;ENSP00000399520:L1260P	ENSP00000255674:L1260P	L	-	2	0	RTTN	65927838	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.771000	0.85420	1.917000	0.55516	0.460000	0.39030	CTG		0.517	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1		NM_173630	
SH3KBP1	30011	hgsc.bcm.edu	37	X	19560246	19560247	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chrX:19560246_19560247insG	ENST00000397821.3	-	16	1978_1979	c.1688_1689insC	c.(1687-1689)ccafs	p.P563fs	SH3KBP1_ENST00000541422.1_Frame_Shift_Ins_p.P302fs|SH3KBP1_ENST00000379716.1_Frame_Shift_Ins_p.P325fs|SH3KBP1_ENST00000379698.4_Frame_Shift_Ins_p.P526fs	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	563					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						ACAGAGGGGCTGGCCCACCGCC	0.653																																																	0																																										SO:0001589	frameshift_variant	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1689dupC	X.37:g.19560248_19560248dupG	ENSP00000380921:p.Pro563fs		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Frame_Shift_Ins	INS	ENST00000397821.3	37	CCDS14193.1																																																																																				0.653	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1		NM_031892	
SPTBN1	6711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	54883108	54883108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr2:54883108G>T	ENST00000356805.4	+	29	6300	c.6019G>T	c.(6019-6021)Gaa>Taa	p.E2007*	SPTBN1_ENST00000333896.5_Nonsense_Mutation_p.E1994*	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2007	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.E1994*(1)|p.E2007*(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGACAAGTGGGAAGACCGATG	0.388																																																	2	Substitution - Nonsense(2)	kidney(2)											127.0	115.0	119.0					2																	54883108		2203	4300	6503	SO:0001587	stop_gained	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6019G>T	2.37:g.54883108G>T	ENSP00000349259:p.Glu2007*		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Nonsense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	50	16.226723	0.99858	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	20.6087	0.99469	0.0:0.0:1.0:0.0	.	.	.	.	X	2007;1994	.	ENSP00000334156:E1994X	E	+	1	0	SPTBN1	54736612	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.802000	0.99131	2.866000	0.98385	0.650000	0.86243	GAA		0.388	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			
SV2C	22987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	75427933	75427933	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr5:75427933C>T	ENST00000502798.2	+	2	800	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	SV2C_ENST00000322285.7_Missense_Mutation_p.R120W	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	120					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.R120W(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GTACAAGGACCGGCGGGAGCT	0.547																																																	1	Substitution - Missense(1)	kidney(1)											95.0	112.0	106.0					5																	75427933		2068	4208	6276	SO:0001583	missense	22987			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.358C>T	5.37:g.75427933C>T	ENSP00000423541:p.Arg120Trp		Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461230	0.84317	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.46063	0.88;0.88	5.71	5.71	0.89125	Major facilitator superfamily domain, general substrate transporter (1);	0.477209	0.23746	N	0.044969	T	0.61974	0.2390	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	P	0.61658	0.892	T	0.62478	-0.6846	10	0.66056	D	0.02	-12.5835	19.8415	0.96690	0.0:1.0:0.0:0.0	.	120	Q496J9	SV2C_HUMAN	W	120	ENSP00000423541:R120W;ENSP00000316983:R120W	ENSP00000316983:R120W	R	+	1	2	SV2C	75463689	1.000000	0.71417	0.998000	0.56505	0.803000	0.45373	2.855000	0.48333	2.700000	0.92200	0.655000	0.94253	CGG		0.547	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			
TAF1	6872	broad.mit.edu;hgsc.bcm.edu	37	X	70613248	70613248	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chrX:70613248G>A	ENST00000373790.4	+	21	3197	c.3146G>A	c.(3145-3147)cGt>cAt	p.R1049H	TAF1_ENST00000449580.1_Missense_Mutation_p.R1049H|TAF1_ENST00000276072.3_Missense_Mutation_p.R1070H|TAF1_ENST00000423759.1_Missense_Mutation_p.R1070H	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1049					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R1049H(1)|p.R1070H(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAATTTGCCCGTGGATCAAGG	0.483																																																	2	Substitution - Missense(2)	kidney(2)											117.0	105.0	109.0					X																	70613248		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3146G>A	X.37:g.70613248G>A	ENSP00000362895:p.Arg1049His		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	34	5.302956	0.95601	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.18016	2.26;2.35;2.29;2.24	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.49508	0.1561	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.56080	-0.8038	10	0.87932	D	0	.	18.8318	0.92143	0.0:0.0:1.0:0.0	.	1049;1049;1070	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	H	1049;1049;1070;1070	ENSP00000362895:R1049H;ENSP00000389000:R1049H;ENSP00000406549:R1070H;ENSP00000276072:R1070H	ENSP00000276072:R1070H	R	+	2	0	TAF1	70529973	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	9.209000	0.95087	2.394000	0.81467	0.600000	0.82982	CGT		0.483	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2		NM_004606	
TERT	7015	broad.mit.edu	37	5	1255447	1255447	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr5:1255447C>T	ENST00000310581.5	-	14	3169	c.3112G>A	c.(3112-3114)Gac>Aac	p.D1038N	TERT_ENST00000334602.6_Missense_Mutation_p.D975N|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1038	CTE.				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)	p.D1026N(1)|p.D1038N(1)		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)	GAGGCCGTGTCAGAGATGACG	0.567									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								2	Substitution - Missense(2)	kidney(2)											72.0	78.0	76.0					5																	1255447		2124	4235	6359	SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	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.3112G>A	5.37:g.1255447C>T	ENSP00000309572:p.Asp1038Asn		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	c	9.944	1.218370	0.22373	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.96802	-4.13;-4.01	4.63	3.74	0.42951	.	0.111988	0.64402	N	0.000016	D	0.93106	0.7805	L	0.49640	1.575	0.80722	D	1	B;B	0.27732	0.185;0.187	B;B	0.29716	0.106;0.063	D	0.88801	0.3285	10	0.33940	T	0.23	-32.4099	7.4942	0.27479	0.0:0.7322:0.1696:0.0982	.	975;1038	O14746-3;O14746	.;TERT_HUMAN	N	1038;975	ENSP00000309572:D1038N;ENSP00000334346:D975N	ENSP00000309572:D1038N	D	-	1	0	TERT	1308447	0.967000	0.33354	0.027000	0.17364	0.010000	0.07245	2.287000	0.43505	0.909000	0.36697	0.655000	0.94253	GAC		0.567	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			
TSC1	7248	hgsc.bcm.edu;ucsc.edu	37	9	135782693	135782693	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr9:135782693delC	ENST00000298552.3	-	13	1549	c.1328delG	c.(1327-1329)ggafs	p.G443fs	TSC1_ENST00000545250.1_Frame_Shift_Del_p.G392fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.G443fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	443					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TTTACCTGATCCTCTGTCATT	0.363			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)											145.0	127.0	133.0					9																	135782693		2203	4300	6503	SO:0001589	frameshift_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1328delG	9.37:g.135782693delC	ENSP00000298552:p.Gly443fs		B7Z897|Q5VVN5	Frame_Shift_Del	DEL	ENST00000298552.3	37	CCDS6956.1																																																																																				0.363	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			
VHL	7428	broad.mit.edu	37	3	10191470	10191470	+	Splice_Site	SNP	G	G	A	rs5030817		TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr3:10191470G>A	ENST00000256474.2	+	3	1303		c.e3-1		VHL_ENST00000345392.2_Splice_Site|VHL_ENST00000477538.1_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(23)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGCCCTTCCAGTGTATACTCT	0.493		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	23	Unknown(23)	kidney(21)|soft_tissue(2)	GRCh37	CS071276|CS941547|CS961706	VHL	S	rs5030817						88.0	80.0	83.0					3																	10191470		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.464-1G>A	3.37:g.10191470G>A			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983329	0.35036	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2774	0.73753	0.0:0.0:1.0:0.0	rs5030817	.	.	.	.	-1	.	.	.	+	.	.	VHL	10166470	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	7.062000	0.76706	2.535000	0.85469	0.655000	0.94253	.		0.493	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	Intron
ZNF646	9726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31087733	31087733	+	Missense_Mutation	SNP	C	C	G	rs201805037	byFrequency	TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr16:31087733C>G	ENST00000394979.2	+	1	511	c.88C>G	c.(88-90)Ctc>Gtc	p.L30V	ZNF668_ENST00000538906.1_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.L30V|ZNF668_ENST00000300849.4_5'Flank|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000394983.2_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	30					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L30V(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCGAGAACTGCTCCATCCATC	0.647																																																	1	Substitution - Missense(1)	kidney(1)											110.0	97.0	102.0					16																	31087733		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.88C>G	16.37:g.31087733C>G	ENSP00000378429:p.Leu30Val		Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	C	16.50	3.141177	0.56936	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979	T;T;T	0.08370	3.39;3.1;3.13	5.9	5.9	0.94986	.	.	.	.	.	T	0.14141	0.0342	N	0.24115	0.695	0.25379	N	0.988631	D	0.53619	0.961	P	0.54590	0.756	T	0.19031	-1.0318	9	0.35671	T	0.21	-4.8001	17.7661	0.88478	0.0:1.0:0.0:0.0	.	30	O15015-2	.	V	30	ENSP00000391271:L30V;ENSP00000300850:L30V;ENSP00000378429:L30V	ENSP00000300850:L30V	L	+	1	0	ZNF646	30995234	0.991000	0.36638	1.000000	0.80357	0.883000	0.51084	2.543000	0.45752	2.793000	0.96121	0.563000	0.77884	CTC		0.647	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2		NM_014699	
ZNF75D	7626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	134427942	134427942	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chrX:134427942T>G	ENST00000370766.3	-	3	2834	c.125A>C	c.(124-126)aAt>aCt	p.N42T	ZNF75D_ENST00000370764.1_Missense_Mutation_p.N42T|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	42					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.N42T(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGGACCAAGATTCTCTATTTT	0.488																																																	1	Substitution - Missense(1)	kidney(1)											103.0	96.0	98.0					X																	134427942		2203	4300	6503	SO:0001583	missense	7626			S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.125A>C	X.37:g.134427942T>G	ENSP00000359802:p.Asn42Thr		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.583432	0.00872	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.05855	3.38;3.38	3.13	0.112	0.14623	Retrovirus capsid, C-terminal (1);	.	.	.	.	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.002	B;B	0.09377	0.004;0.004	T	0.48375	-0.9041	9	0.18710	T	0.47	.	5.1785	0.15148	0.0:0.4896:0.0:0.5104	.	42;42	P51815;A6NK62	ZN75D_HUMAN;.	T	42	ENSP00000359802:N42T;ENSP00000359800:N42T	ENSP00000359800:N42T	N	-	2	0	ZNF75D	134255608	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.403000	0.07214	-0.080000	0.12685	-0.300000	0.09419	AAT		0.488	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1		NM_007131	
ZNF91	7644	broad.mit.edu;hgsc.bcm.edu	37	19	23543382	23543382	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr19:23543382C>T	ENST00000300619.7	-	4	2604	c.2399G>A	c.(2398-2400)tGt>tAt	p.C800Y	ZNF91_ENST00000397082.2_Missense_Mutation_p.C768Y|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	800					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C800Y(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACATTCTTCACATTTGTAGGG	0.393																																																	1	Substitution - Missense(1)	kidney(1)											64.0	69.0	67.0					19																	23543382		2179	4283	6462	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2399G>A	19.37:g.23543382C>T	ENSP00000300619:p.Cys800Tyr		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295369	0.40594	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	D;D	0.85088	-1.94;-1.94	1.52	1.52	0.23074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93006	0.7774	M	0.93594	3.435	0.40082	D	0.976143	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92946	0.6376	9	0.87932	D	0	.	9.9557	0.41666	0.0:1.0:0.0:0.0	.	768;800	Q05481-2;Q05481	.;ZNF91_HUMAN	Y	800;768	ENSP00000300619:C800Y;ENSP00000380272:C768Y	ENSP00000300619:C800Y	C	-	2	0	ZNF91	23335222	0.987000	0.35691	0.115000	0.21578	0.107000	0.19398	3.702000	0.54800	0.798000	0.33994	0.205000	0.17691	TGT		0.393	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1		NM_003430	
