#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
RERE	473	broad.mit.edu	37	1	8419925	8419925	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:8419925C>T	ENST00000337907.3	-	20	4151	c.3517G>A	c.(3517-3519)Gag>Aag	p.E1173K	RERE_ENST00000377464.1_Missense_Mutation_p.E905K|RERE_ENST00000476556.1_Missense_Mutation_p.E619K|RERE_ENST00000400908.2_Missense_Mutation_p.E1173K|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1173					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E1173K(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGCTCAGCCTCGCGCTTGGCC	0.662																																						uc001ape.2		NaN																	1	Substitution - Missense(1)		cervix(1)	ovary(1)|central_nervous_system(1)	2						c.(3517-3519)GAG>AAG		atrophin-1 like protein isoform a							51.0	52.0	52.0					1																	8419925		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8419925C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3517G>A	1.37:g.8419925C>T	ENSP00000338629:p.Glu1173Lys					RERE_uc001apf.2_Missense_Mutation_p.E1173K|RERE_uc001apd.2_Missense_Mutation_p.E619K	p.E1173K	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	20	4327	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1173			Potential.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.3517G>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523074	0.44866	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T;T	0.54279	0.58;2.98;2.98;0.58	5.42	4.51	0.55191	.	.	.	.	.	T	0.60431	0.2268	M	0.70275	2.135	0.58432	D	0.999998	D	0.60160	0.987	P	0.50405	0.64	T	0.64153	-0.6474	9	0.49607	T	0.09	-11.4217	13.206	0.59795	0.0:0.9234:0.0:0.0766	.	1173	Q9P2R6	RERE_HUMAN	K	1173;905;619;1173	ENSP00000338629:E1173K;ENSP00000366684:E905K;ENSP00000422246:E619K;ENSP00000383700:E1173K	ENSP00000338629:E1173K	E	-	1	0	RERE	8342512	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	7.752000	0.85141	1.277000	0.44412	-0.136000	0.14681	GAG		0.662	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1				4	58	0	0	0	0.02938	0	4	58		
EXO5	64789	broad.mit.edu	37	1	40980423	40980423	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:40980423A>G	ENST00000372703.1	+	2	1281	c.207A>G	c.(205-207)atA>atG	p.I69M	EXO5_ENST00000296380.4_Missense_Mutation_p.I69M|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Missense_Mutation_p.I69M|RP11-656D10.6_ENST00000437060.1_RNA			Q9H790	EXO5_HUMAN	exonuclease 5	69					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										GATTGGATATATTATCACCCA	0.423																																						uc001cfp.2		NaN																	0					0						c.(205-207)ATA>ATG		defects in morphology 1 homolog							105.0	111.0	109.0					1																	40980423		2203	4300	6503	SO:0001583	missense	64789						DNA binding|exonuclease activity	g.chr1:40980423A>G	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.207A>G	1.37:g.40980423A>G	ENSP00000361788:p.Ile69Met					DEM1_uc001cfq.2_Missense_Mutation_p.I69M|DEM1_uc001cfr.2_Missense_Mutation_p.I69M|DEM1_uc001cfs.2_Missense_Mutation_p.I69M	p.I69M	NM_022774	NP_073611	Q9H790	EXO5_HUMAN			3	412	+			69					D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Missense_Mutation	SNP	ENST00000372703.1	37	c.207A>G	CCDS453.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669212	0.47677	.	.	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000420209;ENST00000296380;ENST00000432259;ENST00000418186;ENST00000415550;ENST00000443729;ENST00000419161	T;T;T;T;T;T;T;T	0.44482	1.52;1.52;1.51;1.52;1.51;0.92;1.51;1.51	5.06	1.08	0.20341	.	0.364044	0.22181	N	0.063504	T	0.18257	0.0438	N	0.08118	0	0.09310	N	1	B	0.25169	0.119	B	0.29440	0.102	T	0.11494	-1.0585	10	0.48119	T	0.1	.	0.9644	0.01403	0.164:0.4119:0.159:0.2651	.	69	Q9H790	EXO5_HUMAN	M	69	ENSP00000351328:I69M;ENSP00000361788:I69M;ENSP00000398437:I69M;ENSP00000296380:I69M;ENSP00000391240:I69M;ENSP00000413565:I69M;ENSP00000409715:I69M;ENSP00000392115:I69M	ENSP00000296380:I69M	I	+	3	3	DEM1	40753010	0.000000	0.05858	0.202000	0.23494	0.643000	0.38383	0.095000	0.15127	0.125000	0.18397	-0.127000	0.14921	ATA		0.423	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1		NM_022774		3	100	0	0	0	0.004672	0	3	100		
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						uc001end.3		NaN																	6	Substitution - coding silent(6)		prostate(2)|kidney(2)|central_nervous_system(2)		0						c.(1150-1152)TTA>TTG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	p.L384L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3		NM_001039703		7	38	0	0	0	0.038147	0	7	38		
PI4KB	5298	broad.mit.edu	37	1	151288629	151288629	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:151288629G>A	ENST00000368873.1	-	2	497	c.329C>T	c.(328-330)tCa>tTa	p.S110L	PI4KB_ENST00000271657.5_Missense_Mutation_p.S122L|PI4KB_ENST00000368872.1_Missense_Mutation_p.S110L|PI4KB_ENST00000368875.2_Missense_Mutation_p.S122L|PI4KB_ENST00000368874.4_Missense_Mutation_p.S110L|PI4KB_ENST00000529142.1_Intron			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	110	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCTGTGCCTGAGGCCACAGC	0.542																																					Colon(154;765 1838 9854 28443 37492)	uc001ext.2		NaN																	0				ovary(2)|skin(2)	4						c.(328-330)TCA>TTA		catalytic phosphatidylinositol 4-kinase beta							92.0	81.0	85.0					1																	151288629		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151288629G>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.329C>T	1.37:g.151288629G>A	ENSP00000357867:p.Ser110Leu					PI4KB_uc001exr.2_Missense_Mutation_p.S122L|PI4KB_uc001exs.2_Missense_Mutation_p.S110L|PI4KB_uc001exu.2_Missense_Mutation_p.S110L|PI4KB_uc010pcw.1_Intron|PI4KB_uc009wmq.1_Missense_Mutation_p.S122L	p.S110L	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	744	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		110					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.329C>T		.	.	.	.	.	.	.	.	.	.	G	9.851	1.193753	0.22037	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.47	4.56	0.56223	.	0.883878	0.09975	N	0.731748	T	0.10165	0.0249	N	0.03608	-0.345	0.32528	N	0.535389	B;B;B	0.22480	0.07;0.0;0.003	B;B;B	0.15870	0.014;0.0;0.004	T	0.13388	-1.0511	10	0.30078	T	0.28	-4.8088	8.2398	0.31654	0.1737:0.0:0.8263:0.0	.	110;110;110	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	L	110;122;122;110;110;110	ENSP00000357868:S110L;ENSP00000357869:S122L;ENSP00000271657:S122L;ENSP00000357867:S110L;ENSP00000357866:S110L;ENSP00000394719:S110L	ENSP00000271657:S122L	S	-	2	0	PI4KB	149555253	0.739000	0.28196	0.827000	0.32855	0.670000	0.39368	3.383000	0.52471	1.551000	0.49450	-0.140000	0.14226	TCA		0.542	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3		NM_002651		8	104	0	0	0	0.058154	0	8	104		
FCGR2A	2212	broad.mit.edu	37	1	161487799	161487799	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:161487799G>C	ENST00000271450.6	+	7	853	c.815G>C	c.(814-816)aGa>aCa	p.R272T	FCGR2A_ENST00000367972.4_Missense_Mutation_p.R271T|RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000486608.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	272					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	atcagaaagagacaacttgaa	0.433																																						uc001gan.2		NaN																	0				ovary(1)	1						c.(814-816)AGA>ACA		Fc fragment of IgG, low affinity IIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						121.0	118.0	119.0					1																	161487799		2203	4300	6503	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161487799G>C	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.815G>C	1.37:g.161487799G>C	ENSP00000271450:p.Arg272Thr					FCGR2A_uc001gam.2_Missense_Mutation_p.R271T|FCGR2A_uc001gao.2_RNA	p.R272T	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	868	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		272			Cytoplasmic (Potential).		Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.815G>C	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	10.70	1.425082	0.25639	.	.	ENSG00000143226	ENST00000367972;ENST00000271450;ENST00000537821;ENST00000461298	T;T	0.01981	4.53;4.52	0.694	0.694	0.18062	.	.	.	.	.	T	0.00637	0.0021	N	0.08118	0	0.23696	N	0.997086	P;P	0.52316	0.92;0.952	B;B	0.44224	0.258;0.444	T	0.58070	-0.7701	7	0.54805	T	0.06	.	.	.	.	.	272;271	P12318;P12318-2	FCG2A_HUMAN;.	T	271;272;7;7	ENSP00000356949:R271T;ENSP00000271450:R272T	ENSP00000271450:R272T	R	+	2	0	FCGR2A	159754423	0.011000	0.17503	0.032000	0.17829	0.031000	0.12232	-0.026000	0.12392	0.647000	0.30713	0.655000	0.94253	AGA		0.433	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3		NM_021642		6	64	0	0	0	0.021553	0	6	64		
ATF6	22926	broad.mit.edu	37	1	161821558	161821558	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:161821558G>A	ENST00000367942.3	+	11	1433	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	456					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	GGTGCTAACTGAAGAACCATT	0.383																																						uc001gbr.2		NaN																	0				ovary(2)|skin(1)	3						c.(1366-1368)GAA>AAA		activating transcription factor 6							238.0	215.0	223.0					1																	161821558		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161821558G>A	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1366G>A	1.37:g.161821558G>A	ENSP00000356919:p.Glu456Lys					ATF6_uc001gbq.1_Missense_Mutation_p.E456K	p.E456K	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		11	1433	+	all_hematologic(112;0.156)		456			Lumenal (Potential).		O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.1366G>A	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738810	0.49045	.	.	ENSG00000118217	ENST00000367942	T	0.14144	2.53	5.85	5.85	0.93711	.	0.095471	0.64402	D	0.000001	T	0.03053	0.0090	N	0.11560	0.145	0.37838	D	0.928954	P;P	0.44578	0.838;0.779	B;B	0.39185	0.194;0.293	T	0.44360	-0.9333	9	0.11794	T	0.64	-17.9971	15.6543	0.77121	0.0:0.0:1.0:0.0	.	456;457	P18850;Q59H30	ATF6A_HUMAN;.	K	456	ENSP00000356919:E456K	ENSP00000356919:E456K	E	+	1	0	ATF6	160088182	1.000000	0.71417	0.748000	0.31131	0.996000	0.88848	4.478000	0.60230	2.767000	0.95098	0.563000	0.77884	GAA		0.383	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2		NM_007348		7	208	0	0	0	0.047766	0	7	208		
PAPPA2	60676	broad.mit.edu	37	1	176679172	176679172	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:176679172G>C	ENST00000367662.3	+	11	4675	c.3511G>C	c.(3511-3513)Gag>Cag	p.E1171Q		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1171					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGAACCTTTTGAGAGAAAAAC	0.428																																						uc001gkz.2		NaN																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(3511-3513)GAG>CAG		pappalysin 2 isoform 1							130.0	122.0	125.0					1																	176679172		1889	4130	6019	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176679172G>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3511G>C	1.37:g.176679172G>C	ENSP00000356634:p.Glu1171Gln					PAPPA2_uc009www.2_RNA	p.E1171Q	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			11	4675	+			1171					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.3511G>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946546	0.73672	.	.	ENSG00000116183	ENST00000367662	T	0.57907	0.37	5.76	5.76	0.90799	.	0.048753	0.85682	D	0.000000	T	0.78091	0.4229	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81125	-0.1075	10	0.87932	D	0	-30.1292	19.571	0.95419	0.0:0.0:1.0:0.0	.	1171	Q9BXP8	PAPP2_HUMAN	Q	1171	ENSP00000356634:E1171Q	ENSP00000356634:E1171Q	E	+	1	0	PAPPA2	174945795	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	8.898000	0.92538	2.713000	0.92767	0.655000	0.94253	GAG		0.428	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1				8	128	0	0	0	0.069234	0	8	128		
SOAT1	6646	broad.mit.edu	37	1	179308589	179308589	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:179308589G>A	ENST00000367619.3	+	6	549	c.406G>A	c.(406-408)Gac>Aac	p.D136N	SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Missense_Mutation_p.D71N|SOAT1_ENST00000540564.1_Missense_Mutation_p.D78N	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	136					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GCTTGAAGTGGACCACATCAG	0.313																																						uc001gml.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(406-408)GAC>AAC		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						191.0	181.0	184.0					1																	179308589		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179308589G>A	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.406G>A	1.37:g.179308589G>A	ENSP00000356591:p.Asp136Asn					SOAT1_uc010pni.1_Missense_Mutation_p.D71N|SOAT1_uc001gmm.2_Missense_Mutation_p.D78N|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Missense_Mutation_p.D71N	p.D136N	NM_003101	NP_003092	P35610	SOAT1_HUMAN			6	469	+			136					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.406G>A	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.427802	0.25726	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000367619;ENST00000426956	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.67	5.67	0.87782	.	0.136851	0.64402	D	0.000006	T	0.13114	0.0318	L	0.34521	1.04	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.09662	-1.0664	10	0.26408	T	0.33	-35.7426	10.6555	0.45673	0.0864:0.0:0.9136:0.0	.	78;136	A8K3P4;P35610	.;SOAT1_HUMAN	N	71;78;136;136	ENSP00000441356:D71N;ENSP00000445315:D78N;ENSP00000356591:D136N;ENSP00000411309:D136N	ENSP00000356591:D136N	D	+	1	0	SOAT1	177575212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.651000	0.54431	2.649000	0.89929	0.655000	0.94253	GAC		0.313	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2		NM_003101		5	125	0	0	0	0.038147	0	5	125		
HEATR1	55127	broad.mit.edu	37	1	236766632	236766632	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:236766632C>G	ENST00000366582.3	-	3	301	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	HEATR1_ENST00000366579.1_Missense_Mutation_p.E63Q|HEATR1_ENST00000366581.2_Missense_Mutation_p.E63Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	63					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCAAACTGCTCAAAGGAAGGA	0.393																																						uc001hyd.1		NaN																	0				ovary(2)|skin(1)	3						c.(187-189)GAG>CAG		protein BAP28							136.0	132.0	134.0					1																	236766632		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236766632C>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.187G>C	1.37:g.236766632C>G	ENSP00000355541:p.Glu63Gln					HEATR1_uc001hye.1_Missense_Mutation_p.E63Q	p.E63Q	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		3	312	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	63					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.187G>C	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594018	0.66219	.	.	ENSG00000119285	ENST00000366582;ENST00000366581;ENST00000366579	T;T;T	0.42900	0.96;0.96;0.96	5.39	4.42	0.53409	.	0.343402	0.31167	N	0.008137	T	0.29882	0.0747	N	0.21282	0.65	0.36918	D	0.891248	B	0.18863	0.031	B	0.12156	0.007	T	0.16453	-1.0402	10	0.14252	T	0.57	.	17.7177	0.88342	0.0:0.8672:0.1328:0.0	.	63	Q9H583	HEAT1_HUMAN	Q	63	ENSP00000355541:E63Q;ENSP00000355540:E63Q;ENSP00000355538:E63Q	ENSP00000355538:E63Q	E	-	1	0	HEATR1	234833255	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.921000	0.56454	2.533000	0.85409	0.563000	0.77884	GAG		0.393	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1		XM_375853		3	95	0	0	0	0.004672	0	3	95		
KIAA1217	56243	broad.mit.edu	37	10	24762442	24762442	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr10:24762442G>A	ENST00000376454.3	+	6	1162	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N	KIAA1217_ENST00000396446.1_Missense_Mutation_p.D96N|KIAA1217_ENST00000458595.1_Missense_Mutation_p.D378N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.D378N|KIAA1217_ENST00000376451.2_Missense_Mutation_p.D96N|KIAA1217_ENST00000396445.1_Missense_Mutation_p.D96N|KIAA1217_ENST00000430453.2_Missense_Mutation_p.D299N|KIAA1217_ENST00000307544.6_Missense_Mutation_p.D96N|KIAA1217_ENST00000376462.1_Missense_Mutation_p.D298N	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	378					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCCTGATGAAGACATGAGTGG	0.493																																						uc001iru.3		NaN																	0				ovary(5)|skin(2)	7						c.(1132-1134)GAC>AAC		sickle tail isoform 1							123.0	117.0	119.0					10																	24762442		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762442G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1132G>A	10.37:g.24762442G>A	ENSP00000365637:p.Asp378Asn					KIAA1217_uc001irs.2_Missense_Mutation_p.D298N|KIAA1217_uc001irt.3_Missense_Mutation_p.D378N|KIAA1217_uc010qcy.1_Missense_Mutation_p.D378N|KIAA1217_uc010qcz.1_Missense_Mutation_p.D378N|KIAA1217_uc001irv.1_Missense_Mutation_p.D228N|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.D96N|KIAA1217_uc001irz.2_Missense_Mutation_p.D96N|KIAA1217_uc001irx.2_Missense_Mutation_p.D96N|KIAA1217_uc001iry.2_Missense_Mutation_p.D96N	p.D378N	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			6	1535	+			378					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.1132G>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932175	0.92389	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.74	5.74	0.90152	.	0.088622	0.85682	D	0.000000	T	0.67979	0.2951	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.999;1.0;0.999;0.999;0.998;0.974	T	0.68716	-0.5335	10	0.87932	D	0	.	19.9037	0.96999	0.0:0.0:1.0:0.0	.	378;378;96;96;96;96;378;378	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	N	298;378;378;96;378;378;228;299;96;96;96;96;96	ENSP00000365645:D298N;ENSP00000365639:D378N;ENSP00000392625:D378N;ENSP00000365637:D378N;ENSP00000365635:D378N;ENSP00000404798:D228N;ENSP00000389680:D299N;ENSP00000302343:D96N;ENSP00000379722:D96N;ENSP00000365634:D96N;ENSP00000379723:D96N	ENSP00000302343:D96N	D	+	1	0	KIAA1217	24802448	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.230000	0.95299	2.723000	0.93209	0.650000	0.86243	GAC		0.493	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2		NM_019590		7	161	0	0	0	0.038147	0	7	161		
ANO9	338440	broad.mit.edu	37	11	431763	431763	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr11:431763T>C	ENST00000332826.6	-	7	554	c.470A>G	c.(469-471)gAg>gGg	p.E157G		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	157					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CAGGCGTCCCTCCCCCTGGCT	0.647																																						uc001lpi.2		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(469-471)GAG>GGG		tumor protein p53 inducible protein 5							58.0	58.0	58.0					11																	431763		2203	4298	6501	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:431763T>C	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.470A>G	11.37:g.431763T>C	ENSP00000332788:p.Glu157Gly					ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_Missense_Mutation_p.E13G	p.E157G	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			7	555	-			157			Cytoplasmic (Potential).		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.470A>G	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167925	0.57476	.	.	ENSG00000185101	ENST00000332826	T	0.69435	-0.4	4.25	4.25	0.50352	.	1.072170	0.07407	U	0.891802	T	0.56337	0.1978	L	0.29908	0.895	0.23889	N	0.996556	B	0.26577	0.153	B	0.19391	0.025	T	0.41016	-0.9532	10	0.28530	T	0.3	.	12.9873	0.58598	0.0:0.0:0.0:1.0	.	157	A1A5B4	ANO9_HUMAN	G	157	ENSP00000332788:E157G	ENSP00000332788:E157G	E	-	2	0	ANO9	421763	0.078000	0.21339	0.025000	0.17156	0.030000	0.12068	2.690000	0.47001	1.930000	0.55929	0.397000	0.26171	GAG		0.647	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1		NM_001012302		3	57	0	0	0	0.004672	0	3	57		
GANAB	23193	broad.mit.edu	37	11	62407194	62407194	+	Silent	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr11:62407194C>G	ENST00000356638.3	-	2	64	c.48G>C	c.(46-48)gcG>gcC	p.A16A	GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000540933.1_5'UTR|GANAB_ENST00000346178.4_Silent_p.A16A|GANAB_ENST00000534779.1_Intron	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	16					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GTACCAAAGACGCCCAAGACC	0.473																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(46-48)GCG>GCC		neutral alpha-glucosidase AB isoform 2							62.0	62.0	62.0					11																	62407194		2202	4299	6501	SO:0001819	synonymous_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62407194C>G	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.48G>C	11.37:g.62407194C>G						GANAB_uc001nua.2_Silent_p.A16A|GANAB_uc001nuc.2_5'UTR|GANAB_uc010rma.1_Intron|GANAB_uc010rmb.1_Intron	p.A16A	NM_198334	NP_938148	Q14697	GANAB_HUMAN			2	81	-			16					A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	c.48G>C	CCDS8026.1																																																																																				0.473	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1		NM_198334		3	89	0	0	0	0.004672	0	3	89		
PCF11	51585	broad.mit.edu	37	11	82877510	82877510	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr11:82877510C>G	ENST00000298281.4	+	5	2023	c.1571C>G	c.(1570-1572)tCt>tGt	p.S524C		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	524					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATTCGCCAATCTGGAGCTAAG	0.443																																						uc001ozx.3		NaN																	0				ovary(1)	1						c.(1570-1572)TCT>TGT		pre-mRNA cleavage complex II protein Pcf11							126.0	121.0	123.0					11																	82877510		1961	4145	6106	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877510C>G	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1571C>G	11.37:g.82877510C>G	ENSP00000298281:p.Ser524Cys					PCF11_uc010rsu.1_Missense_Mutation_p.S524C	p.S524C	NM_015885	NP_056969	O94913	PCF11_HUMAN			5	1916	+			524					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.1571C>G	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263577	0.39995	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.47869	1.83;0.84;0.83	6.07	6.07	0.98685	.	0.000000	0.49916	D	0.000136	T	0.49712	0.1573	L	0.27053	0.805	0.09310	N	1	D;P	0.71674	0.998;0.947	P;P	0.57324	0.818;0.527	T	0.45056	-0.9287	9	.	.	.	.	14.2203	0.65823	0.0:0.9239:0.0:0.0761	.	524;524	E9PQ01;O94913	.;PCF11_HUMAN	C	524	ENSP00000298281:S524C;ENSP00000434540:S524C;ENSP00000431567:S524C	.	S	+	2	0	PCF11	82555158	0.770000	0.28543	0.975000	0.42487	0.981000	0.71138	3.370000	0.52372	2.885000	0.99019	0.655000	0.94253	TCT		0.443	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2		NM_015885		6	140	0	0	0	0.02938	0	6	140		
SIK2	23235	broad.mit.edu	37	11	111558730	111558730	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr11:111558730C>G	ENST00000304987.3	+	4	495	c.322C>G	c.(322-324)Ctt>Gtt	p.L108V		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TACAGACTATCTTGCTAATCA	0.368																																						uc001plt.2		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(322-324)CTT>GTT		SNF1-like kinase 2							86.0	84.0	85.0					11																	111558730		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111558730C>G	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.322C>G	11.37:g.111558730C>G	ENSP00000305976:p.Leu108Val						p.L108V	NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN			4	440	+			108			Protein kinase.		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.322C>G	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012227	0.75046	.	.	ENSG00000170145	ENST00000304987	T	0.69806	-0.43	6.07	5.16	0.70880	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	0.85682	D	0.000000	T	0.68155	0.2970	N	0.25286	0.73	0.80722	D	1	D	0.62365	0.991	D	0.68039	0.955	T	0.71676	-0.4521	10	0.87932	D	0	.	9.8667	0.41148	0.1405:0.7902:0.0:0.0693	.	108	Q9H0K1	SIK2_HUMAN	V	108	ENSP00000305976:L108V	ENSP00000305976:L108V	L	+	1	0	SIK2	111063940	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.613000	0.61176	1.561000	0.49584	0.655000	0.94253	CTT		0.368	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3		NM_015191		4	91	0	0	0	0.021553	0	4	91		
KDM5A	5927	broad.mit.edu	37	12	417057	417057	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr12:417057T>C	ENST00000399788.2	-	23	3855	c.3493A>G	c.(3493-3495)Att>Gtt	p.I1165V	KDM5A_ENST00000382815.4_Missense_Mutation_p.I1165V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1165					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTGCGGCAAATGCAAAATTTT	0.453			T	NUP98	AML																																	uc001qif.1		NaN		Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				skin(2)|ovary(1)	3						c.(3493-3495)ATT>GTT		retinoblastoma binding protein 2 isoform 1							122.0	122.0	122.0					12																	417057		1996	4167	6163	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:417057T>C		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3493A>G	12.37:g.417057T>C	ENSP00000382688:p.Ile1165Val					KDM5A_uc001qie.1_Missense_Mutation_p.I1165V	p.I1165V	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			23	3856	-			1165			PHD-type 2.		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3493A>G	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	1.023	-0.684179	0.03353	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.84370	-1.84;-1.84	5.52	3.17	0.36434	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.125595	0.53938	D	0.000055	T	0.64023	0.2561	N	0.05574	-0.02	0.30144	N	0.803665	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.54070	-0.8348	10	0.02654	T	1	-11.7781	8.5474	0.33430	0.0:0.2785:0.0:0.7215	.	1165;1165	P29375;P29375-2	KDM5A_HUMAN;.	V	1165	ENSP00000382688:I1165V;ENSP00000372265:I1165V	ENSP00000372265:I1165V	I	-	1	0	KDM5A	287318	0.993000	0.37304	1.000000	0.80357	0.970000	0.65996	1.219000	0.32479	1.030000	0.39839	0.477000	0.44152	ATT		0.453	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1		NM_005056		7	163	0	0	0	0.038147	0	7	163		
DDX23	9416	broad.mit.edu	37	12	49230553	49230553	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr12:49230553C>G	ENST00000308025.3	-	10	1114	c.1035G>C	c.(1033-1035)aaG>aaC	p.K345N	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	345					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TGGCTTCCTTCTTACGAAGTT	0.532																																						uc001rsm.2		NaN																	0				kidney(3)|ovary(1)|lung(1)|skin(1)	6						c.(1033-1035)AAG>AAC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							179.0	177.0	178.0					12																	49230553		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49230553C>G	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1035G>C	12.37:g.49230553C>G	ENSP00000310723:p.Lys345Asn						p.K345N	NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN			10	1126	-			345					B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.1035G>C	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556663	0.45487	.	.	ENSG00000174243	ENST00000308025	T	0.21361	2.01	5.82	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.18257	0.0438	L	0.51914	1.62	0.58432	D	0.999999	B	0.20671	0.047	B	0.15052	0.012	T	0.03875	-1.0996	10	0.49607	T	0.09	-21.2249	8.2053	0.31452	0.0:0.5946:0.0:0.4054	.	345	Q9BUQ8	DDX23_HUMAN	N	345	ENSP00000310723:K345N	ENSP00000310723:K345N	K	-	3	2	DDX23	47516820	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.663000	0.37429	0.307000	0.22880	-0.367000	0.07326	AAG		0.532	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2		NM_004818		10	236	0	0	0	0.069234	0	10	236		
UHRF1BP1L	23074	broad.mit.edu	37	12	100476855	100476855	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr12:100476855G>C	ENST00000279907.7	-	11	1558	c.1346C>G	c.(1345-1347)tCa>tGa	p.S449*	UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.S99*|UHRF1BP1L_ENST00000356828.3_Nonsense_Mutation_p.S449*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	449										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTAGCTTTTGATTGTTGAGA	0.338																																						uc001tgq.2		NaN																	0				ovary(2)	2						c.(1345-1347)TCA>TGA		UHRF1 (ICBP90) binding protein 1-like isoform a							155.0	142.0	147.0					12																	100476855		2203	4299	6502	SO:0001587	stop_gained	23074							g.chr12:100476855G>C		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1346C>G	12.37:g.100476855G>C	ENSP00000279907:p.Ser449*					UHRF1BP1L_uc001tgr.2_Nonsense_Mutation_p.S449*|UHRF1BP1L_uc001tgp.2_Nonsense_Mutation_p.S99*	p.S449*	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			11	1575	-			449					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Nonsense_Mutation	SNP	ENST00000279907.7	37	c.1346C>G	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	38	6.809935	0.97853	.	.	ENSG00000111647	ENST00000279907;ENST00000545232;ENST00000356828;ENST00000548045;ENST00000551973;ENST00000550544	.	.	.	5.93	5.04	0.67666	.	0.188323	0.45606	D	0.000354	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-5.882	14.8641	0.70401	0.0685:0.0:0.9315:0.0	.	.	.	.	X	449;99;449;38;99;38	.	ENSP00000279907:S449X	S	-	2	0	UHRF1BP1L	99000986	1.000000	0.71417	0.779000	0.31741	0.908000	0.53690	6.600000	0.74132	1.511000	0.48818	0.591000	0.81541	TCA		0.338	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1		NM_001006947		4	81	0	0	0	0.014758	0	4	81		
SACS	26278	broad.mit.edu	37	13	23905175	23905175	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr13:23905175G>C	ENST00000382292.3	-	9	13113	c.12840C>G	c.(12838-12840)ttC>ttG	p.F4280L	SACS_ENST00000382298.3_Missense_Mutation_p.F4280L|SACS_ENST00000402364.1_Missense_Mutation_p.F3530L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4280					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTCTACCAGAGAAAAGAGGAG	0.478																																						uc001uon.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(12838-12840)TTC>TTG		sacsin							70.0	81.0	78.0					13																	23905175		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23905175G>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12840C>G	13.37:g.23905175G>C	ENSP00000371729:p.Phe4280Leu					SACS_uc001uoo.2_Missense_Mutation_p.F4133L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.F4280L	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	13429	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4280					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.12840C>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841689	0.32513	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86865	-2.03;-2.18;-2.03	5.65	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.83478	0.5263	N	0.22421	0.69	0.35682	D	0.814128	D	0.63880	0.993	P	0.52758	0.708	D	0.86165	0.1596	10	0.66056	D	0.02	.	9.4255	0.38576	0.2108:0.0:0.7892:0.0	.	4280	Q9NZJ4	SACS_HUMAN	L	4280;3530;4280	ENSP00000371729:F4280L;ENSP00000385844:F3530L;ENSP00000371735:F4280L	ENSP00000371729:F4280L	F	-	3	2	SACS	22803175	0.998000	0.40836	0.084000	0.20598	0.159000	0.22180	2.057000	0.41365	0.744000	0.32741	-1.008000	0.02478	TTC		0.478	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		4	93	0	0	0	0.014758	0	4	93		
CDK8	1024	broad.mit.edu	37	13	26911762	26911762	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr13:26911762G>A	ENST00000381527.3	+	2	690	c.187G>A	c.(187-189)Gca>Aca	p.A63T	CDK8_ENST00000536792.1_Missense_Mutation_p.A63T	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	63	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CTCTATGTCGGCATGTAGAGA	0.294																																						uc001uqr.1		NaN																	0				lung(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(187-189)GCA>ACA		cyclin-dependent kinase 8							94.0	107.0	102.0					13																	26911762		2203	4290	6493	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26911762G>A	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.187G>A	13.37:g.26911762G>A	ENSP00000370938:p.Ala63Thr					CDK8_uc001uqs.1_Missense_Mutation_p.A63T|CDK8_uc001uqt.1_5'UTR	p.A63T	NM_001260	NP_001251	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	2	213	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	63			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.187G>A	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281370	0.95489	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	T;T	0.45276	0.9;0.9	5.64	5.64	0.86602	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	0.85682	D	0.000000	T	0.39835	0.1093	N	0.17312	0.475	0.80722	D	1	P;P	0.38535	0.582;0.635	B;P	0.44811	0.331;0.461	T	0.40421	-0.9564	10	0.87932	D	0	-10.0	19.2942	0.94115	0.0:0.0:1.0:0.0	.	63;63	P49336-2;P49336	.;CDK8_HUMAN	T	63	ENSP00000370938:A63T;ENSP00000437696:A63T	ENSP00000370938:A63T	A	+	1	0	CDK8	25809762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.868000	0.92320	2.654000	0.90174	0.563000	0.77884	GCA		0.294	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1				4	138	0	0	0	0.02938	0	4	138		
PAN3	255967	broad.mit.edu	37	13	28794450	28794450	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr13:28794450C>T	ENST00000380958.3	+	6	1087	c.935C>T	c.(934-936)tCt>tTt	p.S312F	PAN3_ENST00000399613.1_Missense_Mutation_p.S112F	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TCAAATATGTCTGCCTTCTCT	0.438																																						uc001urz.2		NaN																	0				ovary(1)	1						c.(496-498)TCT>TTT		PABP1-dependent poly A-specific ribonuclease							210.0	203.0	205.0					13																	28794450		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28794450C>T	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.935C>T	13.37:g.28794450C>T	ENSP00000370345:p.Ser312Phe					PAN3_uc010tdo.1_Missense_Mutation_p.S312F|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Missense_Mutation_p.S112F	p.S166F	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	5	505	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	312			Interaction with polyadenylate-binding protein.			Missense_Mutation	SNP	ENST00000380958.3	37	c.497C>T	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325433	0.81580	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	T;T	0.47869	0.83;0.85	5.88	5.88	0.94601	.	0.164317	0.56097	D	0.000037	T	0.55000	0.1893	N	0.14661	0.345	0.80722	D	1	D;D;D	0.64830	0.969;0.989;0.994	B;P;D	0.74348	0.438;0.558;0.983	T	0.57774	-0.7753	10	0.46703	T	0.11	-16.9196	20.2371	0.98361	0.0:1.0:0.0:0.0	.	312;312;258	Q58A45-4;Q58A45;Q58A45-3	.;PAN3_HUMAN;.	F	312;112	ENSP00000370345:S312F;ENSP00000382522:S112F	ENSP00000370345:S312F	S	+	2	0	PAN3	27692450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.642000	0.67888	2.788000	0.95919	0.555000	0.69702	TCT		0.438	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4		NM_175854		8	308	0	0	0	0.038147	0	8	308		
NFKBIA	4792	broad.mit.edu	37	14	35871254	35871254	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr14:35871254C>T	ENST00000216797.5	-	6	1020	c.919G>A	c.(919-921)Gac>Aac	p.D307N	NFKBIA_ENST00000557389.1_Missense_Mutation_p.D217N|NFKBIA_ENST00000557140.1_Missense_Mutation_p.D264N|NFKBIA_ENST00000557100.1_5'Flank	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	307					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|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 DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	AACACACAGTCATCATAGGGC	0.453																																						uc001wtf.3		NaN																	0				breast(2)	2						c.(919-921)GAC>AAC		nuclear factor of kappa light polypeptide gene							82.0	87.0	85.0					14																	35871254		2203	4300	6503	SO:0001583	missense	4792				anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding	g.chr14:35871254C>T		CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.919G>A	14.37:g.35871254C>T	ENSP00000216797:p.Asp307Asn					NFKBIA_uc001wte.3_Missense_Mutation_p.D217N|NFKBIA_uc001wtg.3_Missense_Mutation_p.D264N|NFKBIA_uc010amo.2_RNA	p.D307N	NM_020529	NP_065390	P25963	IKBA_HUMAN	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	6	1029	-	Breast(36;0.0484)|Hepatocellular(127;0.158)		307					B2R8L6	Missense_Mutation	SNP	ENST00000216797.5	37	c.919G>A	CCDS9656.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321068	0.95682	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000557389	T;T;T	0.53423	0.72;0.62;1.04	5.91	5.91	0.95273	.	.	.	.	.	T	0.71945	0.3400	M	0.79693	2.465	0.58432	D	0.999998	D;D	0.67145	0.996;0.993	D;D	0.79784	0.993;0.984	T	0.74368	-0.3688	9	0.87932	D	0	-8.3019	18.4858	0.90828	0.0:1.0:0.0:0.0	.	264;307	G3V3I4;P25963	.;IKBA_HUMAN	N	307;264;217	ENSP00000216797:D307N;ENSP00000451257:D264N;ENSP00000450514:D217N	ENSP00000216797:D307N	D	-	1	0	NFKBIA	34941005	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.520000	0.60524	2.808000	0.96608	0.655000	0.94253	GAC		0.453	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1		NM_020529		13	126	0	0	0	0.028581	0	13	126		
LRFN5	145581	broad.mit.edu	37	14	42356424	42356424	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr14:42356424G>A	ENST00000298119.4	+	3	1785	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	LRFN5_ENST00000554120.1_Missense_Mutation_p.R199Q|LRFN5_ENST00000554171.1_Missense_Mutation_p.R199Q	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	199						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGATGACTCGGTTAGATGTG	0.438										HNSCC(30;0.082)																												uc001wvm.2		NaN																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(595-597)CGG>CAG		leucine rich repeat and fibronectin type III							71.0	64.0	66.0					14																	42356424		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356424G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.596G>A	14.37:g.42356424G>A	ENSP00000298119:p.Arg199Gln	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.R199Q	p.R199Q	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1794	+			199			Extracellular (Potential).|LRR 7.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.596G>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233959	0.79688	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.52526	0.66;0.66;0.66	5.56	5.56	0.83823	.	0.000000	0.53938	D	0.000059	T	0.59945	0.2231	L	0.33710	1.025	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.62234	-0.6897	10	0.72032	D	0.01	.	17.0193	0.86429	0.0:0.0:1.0:0.0	.	199;199	G3V364;Q96NI6	.;LRFN5_HUMAN	Q	199	ENSP00000298119:R199Q;ENSP00000451897:R199Q;ENSP00000451067:R199Q	ENSP00000298119:R199Q	R	+	2	0	LRFN5	41426174	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.595000	0.87683	0.650000	0.86243	CGG		0.438	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1		NM_152447		4	31	0	0	0	0.014758	0	4	31		
FAM161B	145483	broad.mit.edu	37	14	74401048	74401048	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr14:74401048C>G	ENST00000534936.1	-	9	1960	c.1855G>C	c.(1855-1857)Gaa>Caa	p.E619Q	RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000286544.3_Missense_Mutation_p.E682Q			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	619										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						AGAGATCCTTCTAAACCCTGC	0.388																																						uc001xpd.1		NaN																	0				ovary(1)	1						c.(1855-1857)GAA>CAA		hypothetical protein LOC145483							121.0	120.0	120.0					14																	74401048		2203	4300	6503	SO:0001583	missense	145483							g.chr14:74401048C>G	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1855G>C	14.37:g.74401048C>G	ENSP00000445326:p.Glu619Gln						p.E619Q	NM_152445	NP_689658					9	1961	-								B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37	c.1855G>C		.	.	.	.	.	.	.	.	.	.	C	19.53	3.844853	0.71603	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.21361	2.01;2.14	4.95	4.95	0.65309	.	0.000000	0.48286	D	0.000193	T	0.39572	0.1083	L	0.51422	1.61	0.31730	N	0.637197	D	0.89917	1.0	D	0.80764	0.994	T	0.36939	-0.9727	10	0.56958	D	0.05	-13.969	13.8797	0.63676	0.0:1.0:0.0:0.0	.	619	Q96MY7	F161B_HUMAN	Q	682;619	ENSP00000286544:E682Q;ENSP00000445326:E619Q	ENSP00000286544:E682Q	E	-	1	0	FAM161B	73470801	0.997000	0.39634	0.951000	0.38953	0.682000	0.39822	1.823000	0.39062	2.729000	0.93468	0.650000	0.86243	GAA		0.388	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_152445		6	100	0	0	0	0.038147	0	6	100		
ATP10A	57194	broad.mit.edu	37	15	25953415	25953415	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr15:25953415G>C	ENST00000356865.6	-	11	2488	c.2377C>G	c.(2377-2379)Cgg>Ggg	p.R793G		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	793					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R793W(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTTTTGCTCCGAATCTTTTTT	0.537																																						uc010ayu.2		NaN																	1	Substitution - Missense(1)	p.R793W(1)	pancreas(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2377-2379)CGG>GGG		ATPase, class V, type 10A							123.0	106.0	112.0					15																	25953415		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953415G>C	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2377C>G	15.37:g.25953415G>C	ENSP00000349325:p.Arg793Gly						p.R793G	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	11	2483	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	793			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2377C>G	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664951	0.29604	.	.	ENSG00000206190	ENST00000356865	D	0.84660	-1.88	4.84	0.35	0.16037	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.643131	0.15582	N	0.254844	T	0.78654	0.4317	L	0.52573	1.65	0.09310	N	1	P	0.42993	0.797	B	0.43728	0.429	T	0.65923	-0.6050	10	0.23891	T	0.37	-1.1724	5.3282	0.15918	0.0708:0.1244:0.5482:0.2567	.	793	O60312	AT10A_HUMAN	G	793	ENSP00000349325:R793G	ENSP00000349325:R793G	R	-	1	2	ATP10A	23504508	0.008000	0.16893	0.005000	0.12908	0.765000	0.43378	0.335000	0.19806	0.080000	0.16959	0.655000	0.94253	CGG		0.537	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1		NM_024490		4	121	0	0	0	0.014758	0	4	121		
NDUFAF1	51103	broad.mit.edu	37	15	41689076	41689076	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr15:41689076C>A	ENST00000260361.4	-	2	563	c.182G>T	c.(181-183)gGa>gTa	p.G61V		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	61					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CTGGTGATCTCCTTGCAAATC	0.423																																						uc001znx.2		NaN																	0				ovary(1)	1						c.(181-183)GGA>GTA		NADH dehydrogenase (ubiquinone) 1 alpha							112.0	116.0	114.0					15																	41689076		2203	4300	6503	SO:0001583	missense	51103				mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding	g.chr15:41689076C>A	AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.182G>T	15.37:g.41689076C>A	ENSP00000260361:p.Gly61Val					NDUFAF1_uc010bcf.2_RNA	p.G61V	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)	2	564	-		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	61					Q9BVZ5	Missense_Mutation	SNP	ENST00000260361.4	37	c.182G>T	CCDS10075.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952738	0.34471	.	.	ENSG00000137806	ENST00000260361	T	0.60672	0.17	5.09	1.55	0.23275	.	0.724854	0.14251	N	0.331452	T	0.47248	0.1435	L	0.57536	1.79	0.40165	D	0.977104	B	0.13145	0.007	B	0.09377	0.004	T	0.50972	-0.8764	10	0.72032	D	0.01	-2.2678	2.9377	0.05819	0.2107:0.531:0.0:0.2583	.	61	Q9Y375	CIA30_HUMAN	V	61	ENSP00000260361:G61V	ENSP00000260361:G61V	G	-	2	0	NDUFAF1	39476368	0.010000	0.17322	0.906000	0.35671	0.252000	0.25951	0.040000	0.13905	0.637000	0.30526	0.456000	0.33151	GGA		0.423	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2		NM_016013		7	205	1	0	0.000442599	0.058154	0.000484752	7	205		
LCTL	197021	broad.mit.edu	37	15	66853375	66853375	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr15:66853375C>A	ENST00000341509.5	-	6	805	c.674G>T	c.(673-675)gGc>gTc	p.G225V	LCTL_ENST00000563438.1_5'Flank|LCTL_ENST00000537670.1_Missense_Mutation_p.G52V	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	225					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.G225V(3)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTGTACAGGCCGGTGCCGCG	0.602																																						uc002aqc.2		NaN																	3	Substitution - Missense(3)		prostate(2)|kidney(1)	ovary(2)	2						c.(673-675)GGC>GTC		lactase-like precursor							64.0	61.0	62.0					15																	66853375		2201	4299	6500	SO:0001583	missense	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66853375C>A	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.674G>T	15.37:g.66853375C>A	ENSP00000343490:p.Gly225Val					LCTL_uc002aqd.3_Missense_Mutation_p.G52V|LCTL_uc010bhw.2_Intron	p.G225V	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN			6	806	-			225			Extracellular (Potential).		B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	c.674G>T	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960240	0.74016	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.52754	0.65;1.49	5.38	5.38	0.77491	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62969	-0.6741	10	0.44086	T	0.13	-35.5197	18.487	0.90833	0.0:1.0:0.0:0.0	.	225	Q6UWM7	LCTL_HUMAN	V	52;225	ENSP00000445419:G52V;ENSP00000343490:G225V	ENSP00000343490:G225V	G	-	2	0	LCTL	64640429	0.998000	0.40836	0.991000	0.47740	0.630000	0.37929	5.425000	0.66470	2.689000	0.91719	0.655000	0.94253	GGC		0.602	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2		NM_207338		6	71	1	0	0.00198382	0.02938	0.00212222	6	71		
NOX5	79400	broad.mit.edu	37	15	69328242	69328242	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr15:69328242C>G	ENST00000388866.3	+	7	1195	c.1154C>G	c.(1153-1155)tCc>tGc	p.S385C	NOX5_ENST00000260364.5_Missense_Mutation_p.S367C|NOX5_ENST00000455873.3_Missense_Mutation_p.S350C|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_Missense_Mutation_p.S357C|NOX5_ENST00000448182.3_Missense_Mutation_p.S339C	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	385	Ferric oxidoreductase.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TTCATCTGCTCCAGTTCCTGC	0.597																																						uc002ars.1		NaN																	0				breast(1)|pancreas(1)	2						c.(1153-1155)TCC>TGC		NADPH oxidase, EF-hand calcium binding domain 5							112.0	91.0	98.0					15																	69328242		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69328242C>G	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1154C>G	15.37:g.69328242C>G	ENSP00000373518:p.Ser385Cys					NOX5_uc002arp.1_Missense_Mutation_p.S367C|NOX5_uc002arq.1_Missense_Mutation_p.S339C|NOX5_uc010bid.1_Missense_Mutation_p.S350C|NOX5_uc002arr.1_Missense_Mutation_p.S357C|NOX5_uc010bie.1_Missense_Mutation_p.S185C|NOX5_uc010bif.1_RNA	p.S385C	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			7	1174	+			385			Ferric oxidoreductase.|Cytoplasmic (Potential).		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.1154C>G	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942661	0.53079	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.94497	-3.44;-3.44;-3.44	3.51	3.51	0.40186	Flavoprotein transmembrane component (1);	0.065731	0.64402	D	0.000007	D	0.97660	0.9233	M	0.93328	3.405	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.72075	0.971;0.976;0.945	D	0.98548	1.0635	10	0.87932	D	0	-14.7001	13.6072	0.62054	0.0:1.0:0.0:0.0	.	350;385;357	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	C	350;367;385;357	ENSP00000416828:S350C;ENSP00000373518:S385C;ENSP00000432440:S357C	ENSP00000373518:S385C	S	+	2	0	NOX5	67115296	1.000000	0.71417	0.966000	0.40874	0.276000	0.26787	6.135000	0.71696	1.502000	0.48669	0.462000	0.41574	TCC		0.597	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2		NM_024505		6	185	0	0	0	0.02938	0	6	185		
FAM169B	283777	broad.mit.edu	37	15	98995216	98995216	+	Missense_Mutation	SNP	C	C	T	rs557283476	byFrequency	TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr15:98995216C>T	ENST00000558256.1	-	5	457	c.208G>A	c.(208-210)Ggt>Agt	p.G70S	FAM169B_ENST00000332908.4_Missense_Mutation_p.G70S	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	70										large_intestine(3)|lung(3)|urinary_tract(1)	7						TAGCATGCACCGGTGCCATCA	0.592													C|||	9	0.00179712	0.0	0.0	5008	,	,		20208	0.0		0.0	False		,,,				2504	0.0092					uc002buk.1		NaN																	0					0						c.(208-210)GGT>AGT		hypothetical protein LOC283777							68.0	76.0	73.0					15																	98995216		2100	4230	6330	SO:0001583	missense	283777							g.chr15:98995216C>T		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.208G>A	15.37:g.98995216C>T	ENSP00000453554:p.Gly70Ser						p.G70S	NM_182562	NP_872368	Q8N8A8	F169B_HUMAN			5	458	-			70					B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	c.208G>A	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	2.568	-0.300196	0.05532	.	.	ENSG00000185087	ENST00000332908	T	0.12039	2.72	4.53	1.29	0.21616	.	0.284924	0.33980	N	0.004373	T	0.05456	0.0144	L	0.27053	0.805	0.09310	N	1	P	0.40638	0.725	B	0.31290	0.127	T	0.33497	-0.9866	10	0.12766	T	0.61	-2.8104	4.1212	0.10106	0.1846:0.5603:0.0:0.2552	.	70	Q8N8A8	F169B_HUMAN	S	70	ENSP00000332615:G70S	ENSP00000332615:G70S	G	-	1	0	FAM169B	96812739	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	0.072000	0.14617	0.515000	0.28320	0.650000	0.86243	GGT		0.592	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1		NM_182562		3	63	0	0	0	0.004672	0	3	63		
NEURL4	84461	broad.mit.edu	37	17	7230206	7230206	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:7230206C>A	ENST00000399464.2	-	4	931	c.916G>T	c.(916-918)Gct>Tct	p.A306S	NEURL4_ENST00000570460.1_Missense_Mutation_p.A284S|NEURL4_ENST00000315614.7_Missense_Mutation_p.A306S	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	306						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGTGGCAGCACCGCTAGAT	0.562																																						uc002gga.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(916-918)GCT>TCT		neuralized homolog 4 isoform 1							71.0	76.0	74.0					17																	7230206		2047	4167	6214	SO:0001583	missense	84461						protein binding	g.chr17:7230206C>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.916G>T	17.37:g.7230206C>A	ENSP00000382390:p.Ala306Ser					NEURL4_uc002ggb.1_Missense_Mutation_p.A306S|NEURL4_uc002ggc.1_5'UTR	p.A306S	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			4	923	-			306					Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.916G>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	3.250	-0.153536	0.06585	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.30448	1.53;1.53	4.79	0.422	0.16457	.	0.658572	0.14272	N	0.330102	T	0.11153	0.0272	N	0.08118	0	0.20403	N	0.99991	B;B	0.13594	0.001;0.008	B;B	0.09377	0.001;0.004	T	0.28776	-1.0033	10	0.15066	T	0.55	-0.6057	2.7045	0.05158	0.148:0.5427:0.1434:0.166	.	306;306	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	S	306	ENSP00000319826:A306S;ENSP00000382390:A306S	ENSP00000319826:A306S	A	-	1	0	NEURL4	7170930	0.000000	0.05858	0.140000	0.22221	0.800000	0.45204	-0.428000	0.06991	0.048000	0.15891	0.655000	0.94253	GCT		0.562	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2		NM_032442		5	91	1	0	8.12818e-05	0.02938	9.00955e-05	5	91		
TP53	7157	broad.mit.edu	37	17	7578419	7578419	+	Nonsense_Mutation	SNP	C	C	A	rs587781845		TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:7578419C>A	ENST00000269305.4	-	5	700	c.511G>T	c.(511-513)Gag>Tag	p.E171*	TP53_ENST00000420246.2_Nonsense_Mutation_p.E171*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.E171*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E171*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E171*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E171*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E171K(11)|p.E171*(10)|p.0?(8)|p.E171Q(4)|p.E171fs*2(3)|p.E171fs*3(2)|p.E171fs*10(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.H168fs*3(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171_V172delEV(1)|p.E39K(1)|p.E78K(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCACAACCTCCGTCATGTGC	0.662		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		57	Substitution - Missense(17)|Deletion - Frameshift(15)|Substitution - Nonsense(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(2)|Insertion - In frame(1)	p.E171*(10)|p.E171K(8)|p.0?(7)|p.E171G(3)|p.E171Q(3)|p.E171fs*10(3)|p.E171fs*3(2)|p.E171V(2)|p.E171D(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.E171_V172delEV(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E171A(1)|p.H168fs*3(1)	urinary_tract(8)|lung(8)|breast(8)|oesophagus(6)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|large_intestine(3)|stomach(3)|central_nervous_system(3)|skin(3)|upper_aerodigestive_tract(2)|thyroid(1)|kidney(1)|endometrium(1)|liver(1)|ovary(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(511-513)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							52.0	52.0	52.0					17																	7578419		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578419C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.511G>T	17.37:g.7578419C>A	ENSP00000269305:p.Glu171*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.E171*|TP53_uc002gih.2_Nonsense_Mutation_p.E171*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E39*|TP53_uc010cng.1_Nonsense_Mutation_p.E39*|TP53_uc002gii.1_Nonsense_Mutation_p.E39*|TP53_uc010cnh.1_Nonsense_Mutation_p.E171*|TP53_uc010cni.1_Nonsense_Mutation_p.E171*|TP53_uc002gij.2_Nonsense_Mutation_p.E171*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.E78*|TP53_uc002gio.2_Nonsense_Mutation_p.E39*|TP53_uc010vug.1_Nonsense_Mutation_p.E132*	p.E171*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	705	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	171		E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.511G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186918	0.78789	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.47	5.47	0.80525	.	0.106949	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.8225	17.1938	0.86887	0.0:1.0:0.0:0.0	.	.	.	.	X	171;171;171;171;171;171;160;78;39;78;39	.	ENSP00000269305:E171X	E	-	1	0	TP53	7519144	1.000000	0.71417	0.689000	0.30133	0.389000	0.30415	7.775000	0.85489	2.735000	0.93741	0.563000	0.77884	GAG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		5	75	1	0	5.9392e-07	0.021553	6.74576e-07	5	75		
ADPRM	56985	broad.mit.edu	37	17	10608569	10608569	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:10608569G>A	ENST00000379774.4	+	2	417	c.326G>A	c.(325-327)gGa>gAa	p.G109E	ADPRM_ENST00000609540.1_Missense_Mutation_p.G109E	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	109							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										CATACATGGGGAAACCATGAA	0.358																																						uc002gmt.2		NaN																	0					0						c.(325-327)GGA>GAA		ADP-ribose/CDP-alcohol pyrophosphatase							85.0	79.0	81.0					17																	10608569		2203	4300	6503	SO:0001583	missense	56985						ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding	g.chr17:10608569G>A	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.326G>A	17.37:g.10608569G>A	ENSP00000369099:p.Gly109Glu					C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Missense_Mutation_p.G109E	p.G109E	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN			2	401	+			109					A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Missense_Mutation	SNP	ENST00000379774.4	37	c.326G>A	CCDS11159.2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646737	0.87958	.	.	ENSG00000170222	ENST00000379774	D	0.99946	-8.59	5.64	5.64	0.86602	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.99953	0.9980	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96190	0.9137	10	0.87932	D	0	-11.385	19.5025	0.95103	0.0:0.0:1.0:0.0	.	109	Q3LIE5	ADPRM_HUMAN	E	109	ENSP00000369099:G109E	ENSP00000369099:G109E	G	+	2	0	C17orf48	10549294	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.825000	0.92029	2.937000	0.99478	0.650000	0.86243	GGA		0.358	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2		NM_020233		5	77	0	0	0	0.02938	0	5	77		
ITGA2B	3674	broad.mit.edu	37	17	42458417	42458417	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:42458417G>A	ENST00000262407.5	-	13	1254	c.1223C>T	c.(1222-1224)gCt>gTt	p.A408V	ITGA2B_ENST00000353281.4_Missense_Mutation_p.A408V|ITGA2B_ENST00000377068.3_Missense_Mutation_p.A93V	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	408					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GTAGGGGGCAGCCACTGCAAT	0.577																																						uc002igt.1		NaN																	0				ovary(2)|lung(1)	3						c.(1222-1224)GCT>GTT		integrin alpha 2b preproprotein	Tirofiban(DB00775)						21.0	24.0	23.0					17																	42458417		2191	4277	6468	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42458417G>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1223C>T	17.37:g.42458417G>A	ENSP00000262407:p.Ala408Val					ITGA2B_uc002igu.1_5'UTR	p.A408V	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	13	1255	-		Prostate(33;0.0181)	408			Extracellular (Potential).|FG-GAP 6.		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.1223C>T	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258454	0.80246	.	.	ENSG00000005961	ENST00000262407;ENST00000353281;ENST00000377068	T;T;T	0.71817	-0.6;-0.6;-0.29	5.49	3.36	0.38483	.	0.246207	0.20853	N	0.084485	T	0.79417	0.4442	M	0.86651	2.83	0.38307	D	0.943144	D	0.71674	0.998	P	0.50270	0.636	D	0.85985	0.1485	10	0.87932	D	0	.	13.4659	0.61254	0.0:0.4913:0.5087:0.0	.	408	P08514	ITA2B_HUMAN	V	408;408;93	ENSP00000262407:A408V;ENSP00000340536:A408V;ENSP00000366268:A93V	ENSP00000262407:A408V	A	-	2	0	ITGA2B	39813943	0.896000	0.30565	0.974000	0.42286	0.772000	0.43724	1.711000	0.37930	1.500000	0.48636	0.655000	0.94253	GCT		0.577	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1				3	43	0	0	0	0.014758	0	3	43		
TBX4	9496	broad.mit.edu	37	17	59560439	59560439	+	Silent	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:59560439G>A	ENST00000240335.1	+	8	1245	c.1200G>A	c.(1198-1200)gaG>gaA	p.E400E	TBX4_ENST00000589449.1_Intron|TBX4_ENST00000393853.4_Silent_p.E401E	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	400					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAGGGCCCGAGATTGCCGGGG	0.607																																						uc002izi.2		NaN																	0				skin(2)	2						c.(1198-1200)GAG>GAA		T-box 4							81.0	73.0	75.0					17																	59560439		2203	4300	6503	SO:0001819	synonymous_variant	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59560439G>A	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1200G>A	17.37:g.59560439G>A						TBX4_uc010ddo.2_Silent_p.E401E|TBX4_uc010woy.1_Silent_p.E401E	p.E400E	NM_018488	NP_060958	P57082	TBX4_HUMAN			8	1245	+			400					A5PKU7|B2RMT1|B7ZLV3	Silent	SNP	ENST00000240335.1	37	c.1200G>A	CCDS11629.1																																																																																				0.607	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1		NM_018488		8	90	0	0	0	0.047766	0	8	90		
CAPN12	147968	broad.mit.edu	37	19	39226178	39226178	+	Silent	SNP	G	G	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr19:39226178G>T	ENST00000328867.4	-	13	1898	c.1590C>A	c.(1588-1590)atC>atA	p.I530I	CAPN12_ENST00000601953.1_Silent_p.I381I|CTD-2540F13.2_ENST00000602255.1_RNA	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	530	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCACGTCGTCGATCTCCCTGC	0.632																																						uc002ojd.1		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(1588-1590)ATC>ATA		calpain 12							35.0	33.0	34.0					19																	39226178		2190	4293	6483	SO:0001819	synonymous_variant	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39226178G>T	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1590C>A	19.37:g.39226178G>T						CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'UTR	p.I530I	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		13	1899	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		530			Domain III.			Silent	SNP	ENST00000328867.4	37	c.1590C>A	CCDS12519.1																																																																																				0.632	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1				5	34	1	0	1.23904e-05	0.014758	1.39014e-05	5	34		
TPRX1	284355	broad.mit.edu	37	19	48305091	48305091	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr19:48305091C>G	ENST00000322175.3	-	2	1332	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	TPRX1_ENST00000535759.1_Missense_Mutation_p.E490Q|TPRX1_ENST00000543508.1_Missense_Mutation_p.E383Q	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	393						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CCACCCTCCTCTTGGGGCTGA	0.532																																					Esophageal Squamous(123;175 2281 3051 32395)	uc002php.1		NaN																	0					0						c.(1177-1179)GAG>CAG		tetra-peptide repeat homeobox							94.0	99.0	97.0					19																	48305091		2203	4300	6503	SO:0001583	missense	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305091C>G		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.1177G>C	19.37:g.48305091C>G	ENSP00000323455:p.Glu393Gln						p.E393Q	NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	2	1248	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	393					A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	c.1177G>C	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	c	5.984	0.365543	0.11352	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D	0.93659	-2.09;-3.26	0.611	-0.548	0.11833	.	.	.	.	.	D	0.83538	0.5276	N	0.08118	0	0.09310	N	1	D	0.55172	0.97	B	0.43680	0.427	T	0.76631	-0.2888	8	0.87932	D	0	.	.	.	.	.	393	Q8N7U7	TPRX1_HUMAN	Q	393;490;383	ENSP00000323455:E393Q;ENSP00000438832:E490Q	ENSP00000323455:E393Q	E	-	1	0	TPRX1	52996903	0.097000	0.21791	0.002000	0.10522	0.015000	0.08874	0.331000	0.19733	-0.270000	0.09285	0.313000	0.20887	GAG		0.532	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1		NM_198479		6	173	0	0	0	0.021553	0	6	173		
NEB	4703	broad.mit.edu	37	2	152543972	152543972	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr2:152543972C>G	ENST00000172853.10	-	27	2745	c.2598G>C	c.(2596-2598)aaG>aaC	p.K866N	NEB_ENST00000409198.1_Missense_Mutation_p.K866N|NEB_ENST00000604864.1_Missense_Mutation_p.K866N|NEB_ENST00000397345.3_Missense_Mutation_p.K866N|NEB_ENST00000427231.2_Missense_Mutation_p.K866N|NEB_ENST00000603639.1_Missense_Mutation_p.K866N			P20929	NEBU_HUMAN	nebulin	866					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGTGCAGCATCTTTGGATCGT	0.438																																						uc010fnx.2		NaN																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(2596-2598)AAG>AAC		nebulin isoform 3							261.0	248.0	252.0					2																	152543972		1980	4165	6145	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152543972C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2598G>C	2.37:g.152543972C>G	ENSP00000172853:p.Lys866Asn						p.K866N	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	27	2789	-			866			Nebulin 20.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.2598G>C		.	.	.	.	.	.	.	.	.	.	C	18.99	3.739272	0.69304	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	M	0.63843	1.955	0.80722	D	1	D	0.63880	0.993	D	0.63597	0.916	T	0.60885	-0.7174	10	0.66056	D	0.02	.	13.9461	0.64086	0.0:0.8476:0.1524:0.0	.	866	P20929	NEBU_HUMAN	N	866	ENSP00000386259:K866N;ENSP00000380505:K866N;ENSP00000416578:K866N;ENSP00000172853:K866N	ENSP00000172853:K866N	K	-	3	2	NEB	152252218	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.771000	0.55318	2.601000	0.87937	0.655000	0.94253	AAG		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		8	178	0	0	0	0.047766	0	8	178		
TTN	7273	broad.mit.edu	37	2	179474565	179474565	+	Silent	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr2:179474565C>T	ENST00000591111.1	-	222	46886	c.46662G>A	c.(46660-46662)aaG>aaA	p.K15554K	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.K8255K|TTN_ENST00000460472.2_Silent_p.K8130K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.K8322K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.K17195K|TTN_ENST00000342992.6_Silent_p.K14627K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15554	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTGCATCTCTTCCACCTTT	0.473																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(43879-43881)AAG>AAA		titin isoform N2-A							452.0	430.0	437.0					2																	179474565		1934	4142	6076	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474565C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46662G>A	2.37:g.179474565C>T						uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K8322K|TTN_uc010zfi.1_Silent_p.K8255K|TTN_uc010zfj.1_Silent_p.K8130K	p.K14627K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		221	44105	-			15554					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.43881G>A																																																																																					0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		12	564	0	0	0	0.020292	0	12	564		
BPIFA2	140683	broad.mit.edu	37	20	31757018	31757018	+	Missense_Mutation	SNP	G	G	C	rs201683810		TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr20:31757018G>C	ENST00000253362.2	+	2	213	c.67G>C	c.(67-69)Gac>Cac	p.D23H	BPIFA2_ENST00000354932.5_Missense_Mutation_p.D23H			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	23						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										GTCTCTTCTTGACAATCTTGG	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20452	0.0		0.0	False		,,,				2504	0.0					uc002wyo.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(67-69)GAC>CAC		chromosome 20 open reading frame 70 precursor							182.0	154.0	163.0					20																	31757018		2203	4300	6503	SO:0001583	missense	140683					extracellular region	lipid binding	g.chr20:31757018G>C	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.67G>C	20.37:g.31757018G>C	ENSP00000253362:p.Asp23His						p.D23H	NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN			2	138	+			23					Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	37	c.67G>C	CCDS13214.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	6.459	0.452915	0.12283	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.13196	2.61;2.61	3.96	0.79	0.18613	.	3.043710	0.00834	N	0.001697	T	0.12646	0.0307	L	0.39898	1.24	0.09310	N	1	B	0.17465	0.022	B	0.18871	0.023	T	0.30794	-0.9966	10	0.54805	T	0.06	-7.0714	2.3064	0.04175	0.1094:0.1948:0.4949:0.2008	.	23	Q96DR5	BPIA2_HUMAN	H	23	ENSP00000253362:D23H;ENSP00000347012:D23H	ENSP00000253362:D23H	D	+	1	0	BPIFA2	31220679	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.434000	0.21494	0.208000	0.20626	0.563000	0.77884	GAC		0.463	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1		NM_080574		4	186	0	0	0	0.009096	0	4	186		
CECR2	27443	broad.mit.edu	37	22	17976598	17976598	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr22:17976598G>A	ENST00000400585.2	+	0	334				CECR2_ENST00000400573.5_Missense_Mutation_p.D107N|CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000262608.8_Missense_Mutation_p.D88N|CECR2_ENST00000342247.5_Missense_Mutation_p.D87N			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGATGCAGACGATGTCTTCGA	0.512																																						uc010gqw.1		NaN																	0				ovary(1)|skin(1)	2						c.(259-261)GAT>AAT		cat eye syndrome chromosome region, candidate 2							99.0	100.0	100.0					22																	17976598		2021	4180	6201			27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:17976598G>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.-105G>A	22.37:g.17976598G>A						CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank	p.D87N	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	2	385	+		all_epithelial(15;0.139)	129					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.259G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.245010	0.95272	.	.	ENSG00000099954	ENST00000342247;ENST00000400573;ENST00000262608	T;T;T	0.51071	0.72;0.72;0.72	5.68	5.68	0.88126	.	0.000000	0.37053	U	0.002266	T	0.73418	0.3584	M	0.83483	2.645	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.76291	-0.3013	10	0.72032	D	0.01	-15.6079	19.7905	0.96454	0.0:0.0:1.0:0.0	.	129	Q9BXF3	CECR2_HUMAN	N	87;107;88	ENSP00000341219:D87N;ENSP00000383417:D107N;ENSP00000262608:D88N	ENSP00000262608:D88N	D	+	1	0	CECR2	16356598	1.000000	0.71417	0.999000	0.59377	0.751000	0.42716	9.272000	0.95707	2.691000	0.91804	0.650000	0.86243	GAT		0.512	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2		NM_031413		4	125	0	0	0	0.014758	0	4	125		
EP300	2033	broad.mit.edu	37	22	41545867	41545867	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr22:41545867C>T	ENST00000263253.7	+	14	3701	c.2482C>T	c.(2482-2484)Cat>Tat	p.H828Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	828					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACCAGCTCTTCATCAGAATTC	0.552			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(2482-2484)CAT>TAT		E1A binding protein p300							92.0	63.0	72.0					22																	41545867		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41545867C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2482C>T	22.37:g.41545867C>T	ENSP00000263253:p.His828Tyr						p.H828Y	NM_001429	NP_001420	Q09472	EP300_HUMAN			14	2877	+			828					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.2482C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908902	0.92107	.	.	ENSG00000100393	ENST00000263253	D	0.83591	-1.74	6.08	6.08	0.98989	.	0.000000	0.49916	D	0.000126	D	0.83078	0.5176	N	0.08118	0	0.50313	D	0.999867	D	0.63046	0.992	D	0.70716	0.97	T	0.82587	-0.0383	10	0.29301	T	0.29	-13.3493	20.6721	0.99693	0.0:1.0:0.0:0.0	.	828	Q09472	EP300_HUMAN	Y	828	ENSP00000263253:H828Y	ENSP00000263253:H828Y	H	+	1	0	EP300	39875813	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.676000	0.74498	2.894000	0.99253	0.591000	0.81541	CAT		0.552	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		4	58	0	0	0	0.021553	0	4	58		
EP300	2033	broad.mit.edu	37	22	41545870	41545870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr22:41545870C>T	ENST00000263253.7	+	14	3704	c.2485C>T	c.(2485-2487)Cag>Tag	p.Q829*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	829					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGCTCTTCATCAGAATTCACC	0.562			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(2485-2487)CAG>TAG		E1A binding protein p300							92.0	63.0	73.0					22																	41545870		2203	4300	6503	SO:0001587	stop_gained	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41545870C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2485C>T	22.37:g.41545870C>T	ENSP00000263253:p.Gln829*						p.Q829*	NM_001429	NP_001420	Q09472	EP300_HUMAN			14	2880	+			829					B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	c.2485C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	49	15.989751	0.99851	.	.	ENSG00000100393	ENST00000263253	.	.	.	6.08	6.08	0.98989	.	0.169198	0.28538	N	0.014987	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-6.6165	16.1904	0.81986	0.1337:0.8663:0.0:0.0	.	.	.	.	X	829	.	ENSP00000263253:Q829X	Q	+	1	0	EP300	39875816	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.381000	0.44336	2.894000	0.99253	0.591000	0.81541	CAG		0.562	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		4	59	0	0	0	0.021553	0	4	59		
GRM2	2912	broad.mit.edu	37	3	51749893	51749893	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr3:51749893G>A	ENST00000395052.3	+	4	2338	c.2104G>A	c.(2104-2106)Gca>Aca	p.A702T	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	702					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGTGGTGGAGGCACCGGGCAC	0.652																																						uc010hlv.2		NaN																	0				lung(1)	1						c.(2104-2106)GCA>ACA		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						52.0	42.0	46.0					3																	51749893		2203	4299	6502	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51749893G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.2104G>A	3.37:g.51749893G>A	ENSP00000378492:p.Ala702Thr					GRM2_uc003dbo.3_Missense_Mutation_p.A84T|GRM2_uc010hlu.2_RNA	p.A702T	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	2343	+			702			Extracellular (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.2104G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881327	0.33255	.	.	ENSG00000164082	ENST00000395052	D	0.87729	-2.29	5.14	4.26	0.50523	GPCR, family 3, C-terminal (2);	0.125415	0.56097	D	0.000038	T	0.74741	0.3756	N	0.12502	0.225	0.80722	D	1	B	0.16166	0.016	B	0.21360	0.034	T	0.70189	-0.4940	10	0.62326	D	0.03	.	7.6677	0.28441	0.1196:0.2761:0.6043:0.0	.	702	Q14416	GRM2_HUMAN	T	702	ENSP00000378492:A702T	ENSP00000378492:A702T	A	+	1	0	GRM2	51724933	1.000000	0.71417	0.993000	0.49108	0.621000	0.37620	2.877000	0.48506	1.288000	0.44600	-0.326000	0.08463	GCA		0.652	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1				3	44	0	0	0	0.009096	0	3	44		
NAALADL2	254827	broad.mit.edu	37	3	175293969	175293969	+	Silent	SNP	A	A	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr3:175293969A>G	ENST00000454872.1	+	10	1922	c.1794A>G	c.(1792-1794)acA>acG	p.T598T	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	598						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ACATCAAAACATTAGAGGTGA	0.348																																						uc003fit.2		NaN																	0				pancreas(1)	1						c.(1792-1794)ACA>ACG		N-acetylated alpha-linked acidic dipeptidase 2							151.0	146.0	147.0					3																	175293969		1868	4111	5979	SO:0001819	synonymous_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175293969A>G		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1794A>G	3.37:g.175293969A>G						NAALADL2_uc003fiu.1_Silent_p.T591T|NAALADL2_uc010hwy.1_Silent_p.T372T	p.T598T	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	10	1881	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	598			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	c.1794A>G	CCDS46960.1																																																																																				0.348	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2		NM_207015		5	175	0	0	0	0.014758	0	5	175		
TP63	8626	broad.mit.edu	37	3	189455608	189455608	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr3:189455608G>A	ENST00000264731.3	+	2	231	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	TP63_ENST00000382063.4_Missense_Mutation_p.E48K|TP63_ENST00000320472.5_Missense_Mutation_p.E48K|TP63_ENST00000440651.2_Missense_Mutation_p.E48K|TP63_ENST00000418709.2_Missense_Mutation_p.E48K|TP63_ENST00000392460.3_Missense_Mutation_p.E48K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	48	Transcription activation.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.E48*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACAGACAAATGAATTCCTCAG	0.378										HNSCC(45;0.13)																												uc003fry.2		NaN																	1	Substitution - Nonsense(1)		large_intestine(1)	skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(142-144)GAA>AAA		tumor protein p63 isoform 1							89.0	87.0	88.0					3																	189455608		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189455608G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.142G>A	3.37:g.189455608G>A	ENSP00000264731:p.Glu48Lys	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.E48K|TP63_uc003frz.2_Missense_Mutation_p.E48K|TP63_uc010hzc.1_Missense_Mutation_p.E48K	p.E48K	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	2	231	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		48			Transcription activation.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.142G>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923226	0.73213	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	D;D;D;D;D;D	0.99758	-6.11;-6.37;-6.35;-6.35;-6.11;-6.65	5.56	5.56	0.83823	.	0.247085	0.37809	N	0.001937	D	0.98717	0.9569	L	0.29908	0.895	0.80722	D	1	P;P;B;B	0.36577	0.491;0.558;0.1;0.296	B;B;B;B	0.34138	0.146;0.176;0.031;0.125	D	0.99974	1.2130	9	.	.	.	-9.0678	18.5098	0.90911	0.0:0.0:1.0:0.0	.	48;48;48;48	Q9H3D4-7;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;P63_HUMAN;.	K	48	ENSP00000264731:E48K;ENSP00000407144:E48K;ENSP00000317510:E48K;ENSP00000376253:E48K;ENSP00000394337:E48K;ENSP00000371495:E48K	.	E	+	1	0	TP63	190938302	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.274000	0.78538	2.605000	0.88082	0.655000	0.94253	GAA		0.378	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1		NM_003722		4	102	0	0	0	0.009096	0	4	102		
MFI2	4241	broad.mit.edu	37	3	196730882	196730882	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr3:196730882G>A	ENST00000296350.5	-	15	2140	c.2027C>T	c.(2026-2028)gCc>gTc	p.A676V	MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000414354.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	676	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CCGGACGGTGGCATCCTTGAA	0.587																																						uc003fxk.3		NaN																	0					0						c.(2026-2028)GCC>GTC		melanoma-associated antigen p97 isoform 1							315.0	324.0	321.0					3																	196730882		2203	4300	6503	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196730882G>A		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.2027C>T	3.37:g.196730882G>A	ENSP00000296350:p.Ala676Val					uc003fxi.2_5'Flank|uc003fxj.1_Intron	p.A676V	NM_005929	NP_005920	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	15	2140	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		676			Transferrin-like 2.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.2027C>T	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520191	0.64747	.	.	ENSG00000163975	ENST00000296350	T	0.34072	1.38	5.62	2.75	0.32379	.	0.158430	0.64402	D	0.000020	T	0.29556	0.0737	L	0.45470	1.425	0.80722	D	1	B	0.14012	0.009	B	0.19666	0.026	T	0.06881	-1.0802	10	0.52906	T	0.07	-12.6626	7.5607	0.27849	0.0788:0.0:0.627:0.2942	.	676	P08582	TRFM_HUMAN	V	676	ENSP00000296350:A676V	ENSP00000296350:A676V	A	-	2	0	MFI2	198215279	1.000000	0.71417	0.908000	0.35775	0.941000	0.58515	6.240000	0.72363	0.272000	0.22027	0.561000	0.74099	GCC		0.587	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1				16	596	0	0	0	0.049695	0	16	596		
OCIAD2	132299	broad.mit.edu	37	4	48894829	48894829	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr4:48894829C>G	ENST00000508632.1	-	6	575	c.343G>C	c.(343-345)Gat>Cat	p.D115H	OCIAD2_ENST00000273860.4_Intron|OCIAD2_ENST00000508069.2_5'UTR	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	115	OCIA.					endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						CGGAGCTGATCTTCAAAAAAA	0.393																																						uc003gyt.2		NaN																	0					0						c.(343-345)GAT>CAT		OCIA domain containing 2 isoform 1							146.0	152.0	150.0					4																	48894829		2203	4300	6503	SO:0001583	missense	132299					endosome		g.chr4:48894829C>G	BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.343G>C	4.37:g.48894829C>G	ENSP00000423014:p.Asp115His					OCIAD2_uc003gyu.2_Intron	p.D115H	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN			6	546	-			115			OCIA.		B4DPE7|Q8N544	Missense_Mutation	SNP	ENST00000508632.1	37	c.343G>C	CCDS33981.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248316	0.22880	.	.	ENSG00000145247	ENST00000508632	T	0.44881	0.91	4.76	1.75	0.24633	.	0.712766	0.13820	N	0.360464	T	0.34629	0.0904	L	0.33485	1.01	0.58432	D	0.999996	P	0.37573	0.6	P	0.46758	0.526	T	0.15607	-1.0431	9	.	.	.	-1.1334	3.1719	0.06555	0.2059:0.5594:0.0:0.2347	.	115	Q56VL3	OCAD2_HUMAN	H	115	ENSP00000423014:D115H	.	D	-	1	0	OCIAD2	48589586	0.967000	0.33354	0.993000	0.49108	0.204000	0.24138	0.925000	0.28791	0.673000	0.31224	0.650000	0.86243	GAT		0.393	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361984.5		NM_152398		7	330	0	0	0	0.047766	0	7	330		
SPRY1	10252	broad.mit.edu	37	4	124322883	124322883	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr4:124322883C>A	ENST00000394339.2	+	2	477	c.137C>A	c.(136-138)gCc>gAc	p.A46D	SPRY1_ENST00000339241.1_Missense_Mutation_p.A46D	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	46					epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CAGATCAAGGCCATAAGAGGC	0.463																																						uc003ifa.2		NaN																	0				skin(2)|ovary(1)	3						c.(136-138)GCC>GAC		sprouty homolog 1, antagonist of FGF signaling							150.0	154.0	152.0					4																	124322883		2203	4300	6503	SO:0001583	missense	10252				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane		g.chr4:124322883C>A	AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.137C>A	4.37:g.124322883C>A	ENSP00000377871:p.Ala46Asp					SPRY1_uc003ifb.2_Missense_Mutation_p.A46D	p.A46D	NM_199327	NP_955359	O43609	SPY1_HUMAN			2	325	+			46					D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	37	c.137C>A	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745279	0.69418	.	.	ENSG00000164056	ENST00000505319;ENST00000339241;ENST00000507703;ENST00000394339	T;T;T	0.57907	0.37;1.34;0.37	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	M	0.76328	2.33	0.58432	D	0.999998	P	0.41313	0.745	B	0.41236	0.351	T	0.66937	-0.5797	10	0.66056	D	0.02	-16.5636	17.6504	0.88162	0.0:1.0:0.0:0.0	.	46	O43609	SPY1_HUMAN	D	46	ENSP00000343785:A46D;ENSP00000421036:A46D;ENSP00000377871:A46D	ENSP00000343785:A46D	A	+	2	0	SPRY1	124542333	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.454000	0.52986	2.481000	0.83766	0.561000	0.74099	GCC		0.463	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1				5	182	1	0	0.000602214	0.014758	0.000651809	5	182		
FAT4	79633	broad.mit.edu	37	4	126412493	126412493	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr4:126412493C>G	ENST00000394329.3	+	17	14529	c.14516C>G	c.(14515-14517)tCt>tGt	p.S4839C	FAT4_ENST00000335110.5_Missense_Mutation_p.S3080C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4839					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAATCCTCTTCTGATAGT	0.468																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(14515-14517)TCT>TGT		FAT tumor suppressor homolog 4 precursor							66.0	65.0	66.0					4																	126412493		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412493C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14516C>G	4.37:g.126412493C>G	ENSP00000377862:p.Ser4839Cys					FAT4_uc011cgp.1_Missense_Mutation_p.S3080C|FAT4_uc003ifi.1_Missense_Mutation_p.S2316C	p.S4839C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	14516	+			4839			Cytoplasmic (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14516C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650870	0.47362	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.87256	-2.04;-2.23	5.19	5.19	0.71726	.	0.000000	0.34362	U	0.004028	D	0.93271	0.7856	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	D	0.94000	0.7274	10	0.87932	D	0	.	17.7328	0.88383	0.0:1.0:0.0:0.0	.	3080;4839;4838	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	C	4839;3080	ENSP00000377862:S4839C;ENSP00000335169:S3080C	ENSP00000335169:S3080C	S	+	2	0	FAT4	126631943	1.000000	0.71417	0.789000	0.31954	0.221000	0.24807	7.342000	0.79310	2.425000	0.82216	0.491000	0.48974	TCT		0.468	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		4	86	0	0	0	0.009096	0	4	86		
DNAH5	1767	broad.mit.edu	37	5	13729630	13729630	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:13729630G>A	ENST00000265104.4	-	69	11905	c.11801C>T	c.(11800-11802)cCa>cTa	p.P3934L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3934					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATTTTGATGGTTTTGGAGG	0.358									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(11800-11802)CCA>CTA		dynein, axonemal, heavy chain 5							150.0	128.0	135.0					5																	13729630		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13729630G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11801C>T	5.37:g.13729630G>A	ENSP00000265104:p.Pro3934Leu					DNAH5_uc003jfc.2_Missense_Mutation_p.P102L	p.P3934L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			69	11843	-	Lung NSC(4;0.00476)		3934					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11801C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035151	0.93575	.	.	ENSG00000039139	ENST00000265104	T	0.09723	2.95	5.91	5.91	0.95273	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	H	0.95884	3.735	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.64740	-0.6336	10	0.87932	D	0	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	3934	Q8TE73	DYH5_HUMAN	L	3934	ENSP00000265104:P3934L	ENSP00000265104:P3934L	P	-	2	0	DNAH5	13782630	1.000000	0.71417	0.980000	0.43619	0.874000	0.50279	7.846000	0.86887	2.814000	0.96858	0.650000	0.86243	CCA		0.358	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		4	117	0	0	0	0.009096	0	4	117		
DNAH5	1767	broad.mit.edu	37	5	13844961	13844961	+	Silent	SNP	G	G	C	rs375664100		TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:13844961G>C	ENST00000265104.4	-	32	5360	c.5256C>G	c.(5254-5256)gtC>gtG	p.V1752V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1752	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGTGGAACTTGACAGATTTAA	0.468									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5254-5256)GTC>GTG		dynein, axonemal, heavy chain 5		G		1,4405	2.1+/-5.4	0,1,2202	179.0	171.0	174.0		5256	4.2	1.0	5		174	0,8600		0,0,4300	no	coding-synonymous	DNAH5	NM_001369.2		0,1,6502	CC,CG,GG		0.0,0.0227,0.0077		1752/4625	13844961	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13844961G>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5256C>G	5.37:g.13844961G>C							p.V1752V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			32	5298	-	Lung NSC(4;0.00476)		1752			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.5256C>G	CCDS3882.1																																																																																				0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		6	237	0	0	0	0.02938	0	6	237		
ADAMTS12	81792	broad.mit.edu	37	5	33588860	33588860	+	Silent	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:33588860C>T	ENST00000504830.1	-	18	3044	c.2709G>A	c.(2707-2709)gaG>gaA	p.E903E	ADAMTS12_ENST00000352040.3_Silent_p.E818E|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	903	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTCGCTTCTTCTCCCCGTGGG	0.607										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jia.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2707-2709)GAG>GAA		ADAM metallopeptidase with thrombospondin type 1							102.0	94.0	97.0					5																	33588860		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33588860C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2709G>A	5.37:g.33588860C>T		HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	ADAMTS12_uc010iuq.1_Silent_p.E818E	p.E903E	NM_030955	NP_112217	P58397	ATS12_HUMAN			18	2872	-			903			TSP type-1 3.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.2709G>A	CCDS34140.1																																																																																				0.607	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		16	84	0	0	0	0.049695	0	16	84		
MSH3	4437	broad.mit.edu	37	5	79974807	79974807	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:79974807C>G	ENST00000265081.6	+	8	1315	c.1235C>G	c.(1234-1236)tCa>tGa	p.S412*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	412					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GCTTCTCGTTCAGAGCTAGAA	0.488								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	uc003kgz.2		NaN																	0				lung(2)|ovary(1)|breast(1)	4						c.(1234-1236)TCA>TGA	MMR	mutS homolog 3							152.0	153.0	153.0					5																	79974807		2203	4300	6503	SO:0001587	stop_gained	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79974807C>G	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1235C>G	5.37:g.79974807C>G	ENSP00000265081:p.Ser412*						p.S412*	NM_002439	NP_002430	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	8	1488	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	412					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Nonsense_Mutation	SNP	ENST00000265081.6	37	c.1235C>G	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	36	5.696379	0.96802	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	.	.	.	5.51	2.74	0.32292	.	0.251233	0.33959	N	0.004382	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.5492	9.559	0.39357	0.0:0.7052:0.0:0.2948	.	.	.	.	X	412;403	.	.	S	+	2	0	MSH3	80010563	0.002000	0.14202	0.070000	0.20053	0.484000	0.33280	0.413000	0.21148	0.365000	0.24400	0.557000	0.71058	TCA		0.488	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1		NM_002439		6	224	0	0	0	0.02938	0	6	224		
LNPEP	4012	broad.mit.edu	37	5	96341855	96341855	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:96341855C>G	ENST00000231368.5	+	10	2556	c.1864C>G	c.(1864-1866)Caa>Gaa	p.Q622E	LNPEP_ENST00000395770.3_Missense_Mutation_p.Q608E	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	622					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGTGACTGTTCAAAAGAAAGG	0.333																																						uc003kmv.1		NaN																	0				ovary(3)|breast(1)	4						c.(1864-1866)CAA>GAA		leucyl/cystinyl aminopeptidase isoform 1							61.0	66.0	64.0					5																	96341855		2202	4297	6499	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96341855C>G	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1864C>G	5.37:g.96341855C>G	ENSP00000231368:p.Gln622Glu					LNPEP_uc003kmw.1_Missense_Mutation_p.Q608E	p.Q622E	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	10	2378	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	622			Extracellular (Potential).		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.1864C>G	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	C	4.393	0.072539	0.08436	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.01165	5.24;5.24	5.87	4.96	0.65561	.	0.377447	0.33959	N	0.004391	T	0.00754	0.0025	N	0.10733	0.035	0.28127	N	0.930373	B	0.02656	0.0	B	0.06405	0.002	T	0.45804	-0.9236	10	0.02654	T	1	.	14.1229	0.65201	0.2171:0.7829:0.0:0.0	.	622	Q9UIQ6	LCAP_HUMAN	E	622;608	ENSP00000231368:Q622E;ENSP00000379117:Q608E	ENSP00000231368:Q622E	Q	+	1	0	LNPEP	96367611	0.189000	0.23263	0.992000	0.48379	0.901000	0.52897	0.477000	0.22196	2.785000	0.95823	0.655000	0.94253	CAA		0.333	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1		NM_005575		3	69	0	0	0	0.009096	0	3	69		
PCDHA1	56147	broad.mit.edu	37	5	140167577	140167577	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:140167577C>T	ENST00000504120.2	+	1	1702	c.1702C>T	c.(1702-1704)Cct>Tct	p.P568S	PCDHA1_ENST00000378133.3_Missense_Mutation_p.P568S|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	568					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCTGGCGCCTCGAGTGGG	0.687																																						uc003lhb.2		NaN																	0				skin(1)	1						c.(1702-1704)CCT>TCT		protocadherin alpha 1 isoform 1 precursor							86.0	85.0	85.0					5																	140167577		2203	4299	6502	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167577C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1702C>T	5.37:g.140167577C>T	ENSP00000420840:p.Pro568Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.P568S	p.P568S	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1702	+			568			Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1702C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	12.60	1.985350	0.35036	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.60040	0.22;0.22	3.68	3.68	0.42216	Cadherin-like (1);	0.423542	0.17039	U	0.189408	T	0.53642	0.1809	L	0.42245	1.32	0.36921	D	0.891393	B;B	0.33748	0.021;0.423	B;B	0.37480	0.023;0.251	T	0.64931	-0.6291	10	0.56958	D	0.05	.	14.7562	0.69567	0.0:1.0:0.0:0.0	.	568;568	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	S	568	ENSP00000420840:P568S;ENSP00000367373:P568S	ENSP00000367373:P568S	P	+	1	0	PCDHA1	140147761	0.009000	0.17119	0.561000	0.28357	0.397000	0.30659	1.145000	0.31577	1.776000	0.52262	0.484000	0.47621	CCT		0.687	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1		NM_018900		6	107	0	0	0	0.021553	0	6	107		
PCDHGA7	56108	broad.mit.edu	37	5	140762743	140762743	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:140762743G>A	ENST00000518325.1	+	1	277	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	93	Cadherin 1. {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)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAGACCGGGAAGAGATCTG	0.527																																						uc003lka.1		NaN																	0					0						c.(277-279)GAA>AAA		protocadherin gamma subfamily A, 7 isoform 1							50.0	59.0	56.0					5																	140762743		2183	4295	6478	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140762743G>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.277G>A	5.37:g.140762743G>A	ENSP00000430024:p.Glu93Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.E93K	p.E93K	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	277	+			93			Cadherin 1.|Extracellular (Potential).		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.277G>A	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	29.2	4.982057	0.93044	.	.	ENSG00000253537	ENST00000518325	T	0.49720	0.77	4.86	4.86	0.63082	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.84483	0.5482	H	0.99903	4.92	0.42146	D	0.991535	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.92664	0.6144	9	0.87932	D	0	.	17.9737	0.89120	0.0:0.0:1.0:0.0	.	93;93	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	K	93	ENSP00000430024:E93K	ENSP00000430024:E93K	E	+	1	0	PCDHGA7	140742927	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.869000	0.99810	2.398000	0.81561	0.655000	0.94253	GAA		0.527	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1		NM_018920		4	93	0	0	0	0.009096	0	4	93		
GNB2L1	10399	broad.mit.edu	37	5	180668594	180668594	+	Silent	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:180668594C>G	ENST00000512805.1	-	3	735	c.327G>C	c.(325-327)ctG>ctC	p.L109L	SNORD95_ENST00000579879.1_RNA|GNB2L1_ENST00000456394.2_Silent_p.L109L|SNORD96A_ENST00000606577.1_RNA|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511900.1_Intron|GNB2L1_ENST00000376817.4_Silent_p.L65L|GNB2L1_ENST00000511566.1_Silent_p.L109L|GNB2L1_ENST00000514455.1_5'Flank|GNB2L1_ENST00000505461.1_5'UTR	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	109				Missing (in Ref. 4; BAG53102). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		AGGCCACACTCAGCACATCCT	0.507																																						uc003mni.1		NaN																	0					0						c.(325-327)CTG>CTC		guanine nucleotide binding protein (G protein),							143.0	124.0	130.0					5																	180668594		2203	4300	6503	SO:0001819	synonymous_variant	10399				apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding	g.chr5:180668594C>G	M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"""WD repeat domain containing"""	4399	protein-coding gene	gene with protein product	"""Receptor for Activated C Kinase 1"""	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.327G>C	5.37:g.180668594C>G						GNB2L1_uc003mnh.1_Silent_p.L68L|GNB2L1_uc003mnk.1_Silent_p.L31L|GNB2L1_uc003mnj.1_Silent_p.L63L|GNB2L1_uc003mnl.1_5'UTR|GNB2L1_uc011dhk.1_Silent_p.L109L|GNB2L1_uc010jls.2_Silent_p.L68L|GNB2L1_uc011dhl.1_Silent_p.L109L	p.L109L	NM_006098	NP_006089	P63244	GBLP_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)	3	433	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	109	Missing (in Ref. 4; BAG53102).		WD 3.		B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Silent	SNP	ENST00000512805.1	37	c.327G>C	CCDS34324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.04|17.04	3.286340|3.286340	0.59867|0.59867	.|.	.|.	ENSG00000204628|ENSG00000204628	ENST00000502905;ENST00000504128|ENST00000507756	.|.	.|.	.|.	5.88|5.88	5.01|5.01	0.66863|0.66863	.|.	.|.	.|.	.|.	.|.	T|.	0.65270|.	0.2675|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.64241|.	-0.6454|.	4|.	.|.	.|.	.|.	-13.1523|-13.1523	12.8442|12.8442	0.57821|0.57821	0.0:0.9214:0.0:0.0786|0.0:0.9214:0.0:0.0786	.|.	.|.	.|.	.|.	Q|S	27;16|40	.|.	.|.	E|X	-|-	1|2	0|2	GNB2L1|GNB2L1	180601200|180601200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	3.846000|3.846000	0.55888|0.55888	1.484000|1.484000	0.48361|0.48361	-0.140000|-0.140000	0.14226|0.14226	GAG|TGA		0.507	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372943.2		NM_006098		5	98	0	0	0	0.021553	0	5	98		
TNXB	7148	broad.mit.edu	37	6	32015700	32015700	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr6:32015700C>T	ENST00000375244.3	-	30	10336	c.10135G>A	c.(10135-10137)Gag>Aag	p.E3379K	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Missense_Mutation_p.E3377K			P22105	TENX_HUMAN	tenascin XB	3424	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AATTCGCCCTCAGGGACCGTC	0.637																																						uc003nzl.2		NaN																	0					0						c.(10129-10131)GAG>AAG		tenascin XB isoform 1 precursor							50.0	61.0	57.0					6																	32015700		1460	2667	4127	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32015700C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10135G>A	6.37:g.32015700C>T	ENSP00000364393:p.Glu3379Lys					TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	p.E3377K	NM_019105	NP_061978	P22105	TENX_HUMAN			30	10331	-			3424			Fibronectin type-III 26.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10129G>A		.	.	.	.	.	.	.	.	.	.	C	18.95	3.731140	0.69189	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56941	0.43;0.43	4.76	2.86	0.33363	.	0.435749	0.19524	N	0.112213	T	0.39489	0.1080	M	0.89095	3.005	0.09310	N	1	B	0.29232	0.238	B	0.38683	0.279	T	0.43686	-0.9376	10	0.15066	T	0.55	.	6.8165	0.23833	0.0:0.4734:0.4254:0.1011	.	3377	P22105-3	.	K	3379;3377	ENSP00000364393:E3379K;ENSP00000364396:E3377K	ENSP00000364393:E3379K	E	-	1	0	TNXB	32123678	0.025000	0.19082	0.981000	0.43875	0.903000	0.53119	0.296000	0.19083	1.178000	0.42870	0.591000	0.81541	GAG		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		4	59	0	0	0	0.009096	0	4	59		
FANCE	2178	broad.mit.edu	37	6	35426085	35426085	+	Silent	SNP	G	G	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr6:35426085G>T	ENST00000229769.2	+	5	1166	c.981G>T	c.(979-981)ctG>ctT	p.L327L		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	327	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						TGGACTTGCTGTGTGCCCAGC	0.602			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003oko.1		NaN	yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	N|F|S	"""Fanconi anemia, complementation group E"""			L		AML|leukemia			0				ovary(1)|lung(1)|skin(1)	3						c.(979-981)CTG>CTT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group E							117.0	105.0	109.0					6																	35426085		2203	4300	6503	SO:0001819	synonymous_variant	2178	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35426085G>T	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.981G>T	6.37:g.35426085G>T						FANCE_uc010jvw.1_Intron	p.L327L	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN			5	1166	+			327			Interaction with FANCC.		A8K907|Q4ZGH2	Silent	SNP	ENST00000229769.2	37	c.981G>T	CCDS4805.1																																																																																				0.602	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1				13	186	1	0	1.5842e-08	0.105934	1.84489e-08	13	186		
DNAH8	1769	broad.mit.edu	37	6	38834595	38834595	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr6:38834595C>G	ENST00000359357.3	+	45	6239	c.5985C>G	c.(5983-5985)atC>atG	p.I1995M	DNAH8_ENST00000441566.1_Intron|DNAH8_ENST00000449981.2_Missense_Mutation_p.I2212M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1995	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAATGTTATCTTGGCTCAAA	0.303																																						uc003ooe.1		NaN																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(5983-5985)ATC>ATG		dynein, axonemal, heavy polypeptide 8							85.0	86.0	86.0					6																	38834595		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38834595C>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5985C>G	6.37:g.38834595C>G	ENSP00000352312:p.Ile1995Met						p.I1995M	NM_001371	NP_001362					45	6585	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.5985C>G		.	.	.	.	.	.	.	.	.	.	C	17.19	3.327363	0.60743	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357	T;T	0.40756	1.02;1.02	5.87	4.99	0.66335	.	0.357397	0.32459	N	0.006063	T	0.33990	0.0882	L	0.28458	0.855	0.80722	D	1	P	0.44816	0.844	P	0.57620	0.824	T	0.18713	-1.0328	10	0.41790	T	0.15	.	11.3126	0.49372	0.0:0.6946:0.2398:0.0656	.	1995	Q96JB1	DYH8_HUMAN	M	2200;2200;1995	ENSP00000333363:I2200M;ENSP00000352312:I1995M	ENSP00000333363:I2200M	I	+	3	3	DNAH8	38942573	0.041000	0.20044	0.996000	0.52242	0.985000	0.73830	-0.299000	0.08254	1.586000	0.49944	0.655000	0.94253	ATC		0.303	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927		5	47	0	0	0	0.02938	0	5	47		
PURB	5814	broad.mit.edu	37	7	44924329	44924329	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:44924329C>T	ENST00000395699.2	-	1	631	c.619G>A	c.(619-621)Ggc>Agc	p.G207S	MIR4657_ENST00000578157.1_RNA|RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	207	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						cccccggcgccgcctcccggg	0.692																																						uc003tme.2		NaN																	0					0						c.(619-621)GGC>AGC		purine-rich element binding protein B							18.0	24.0	22.0					7																	44924329		2197	4295	6492	SO:0001583	missense	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924329C>T		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.619G>A	7.37:g.44924329C>T	ENSP00000379051:p.Gly207Ser						p.G207S	NM_033224	NP_150093	Q96QR8	PURB_HUMAN			1	632	-			207			Gly-rich.|By similarity.		A4D2L7	Missense_Mutation	SNP	ENST00000395699.2	37	c.619G>A	CCDS5499.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.976768	0.53720	.	.	ENSG00000146676	ENST00000395699	T	0.32023	1.47	4.05	3.16	0.36331	.	0.000000	0.31495	U	0.007556	T	0.08088	0.0202	N	0.01874	-0.695	0.41687	D	0.989322	P	0.35328	0.495	B	0.26614	0.071	T	0.30179	-0.9987	10	0.02654	T	1	.	9.6754	0.40037	0.0:0.8954:0.0:0.1046	.	207	Q96QR8	PURB_HUMAN	S	207	ENSP00000379051:G207S	ENSP00000379051:G207S	G	-	1	0	PURB	44890854	.	.	0.733000	0.30861	0.965000	0.64279	.	.	1.038000	0.40049	0.491000	0.48974	GGC		0.692	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2		NM_033224		3	38	0	0	0	0.004672	0	3	38		
FZD9	8326	broad.mit.edu	37	7	72849103	72849103	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:72849103G>C	ENST00000344575.3	+	1	995	c.766G>C	c.(766-768)Gag>Cag	p.E256Q		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	256					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTCTTGCTGGAGCCCCACCG	0.642																																					Pancreas(144;909 1878 36867 38226 39554)	uc003tyb.2		NaN																	0				central_nervous_system(1)	1						c.(766-768)GAG>CAG		frizzled 9 precursor							119.0	120.0	119.0					7																	72849103		2203	4300	6503	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849103G>C	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.766G>C	7.37:g.72849103G>C	ENSP00000345785:p.Glu256Gln						p.E256Q	NM_003508	NP_003499	O00144	FZD9_HUMAN			1	995	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	256			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000344575.3	37	c.766G>C	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212684	0.58452	.	.	ENSG00000188763	ENST00000344575	D	0.82893	-1.66	3.89	3.89	0.44902	GPCR, family 2-like (1);	0.225081	0.34460	U	0.003945	D	0.84306	0.5443	M	0.62723	1.935	0.40741	D	0.982831	P	0.34699	0.464	P	0.45138	0.471	D	0.86364	0.1719	10	0.87932	D	0	.	11.3106	0.49362	0.0:0.1849:0.8151:0.0	.	256	O00144	FZD9_HUMAN	Q	256	ENSP00000345785:E256Q	ENSP00000345785:E256Q	E	+	1	0	FZD9	72487039	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.824000	0.86668	1.891000	0.54761	0.411000	0.27672	GAG		0.642	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1				5	188	0	0	0	0.021553	0	5	188		
CYP3A4	1576	broad.mit.edu	37	7	99366067	99366067	+	Missense_Mutation	SNP	C	C	T	rs548684407		TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:99366067C>T	ENST00000336411.2	-	7	763	c.580G>A	c.(580-582)Gac>Aac	p.D194N	RP11-757A13.1_ENST00000608397.1_RNA|CYP3A4_ENST00000354593.2_Missense_Mutation_p.D44N	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	194					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	TTGAGAGAGTCGATGTTCACT	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		19050	0.0		0.0	False		,,,				2504	0.001					uc003urv.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(580-582)GAC>AAC		cytochrome P450, family 3, subfamily A,	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						174.0	156.0	162.0					7																	99366067		2203	4300	6503	SO:0001583	missense	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99366067C>T	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.580G>A	7.37:g.99366067C>T	ENSP00000337915:p.Asp194Asn					CYP3A4_uc003urw.1_Missense_Mutation_p.D194N|CYP3A4_uc011kiz.1_Missense_Mutation_p.D153N|CYP3A4_uc011kja.1_Missense_Mutation_p.D145N|CYP3A4_uc011kjb.1_Missense_Mutation_p.D44N	p.D194N	NM_017460	NP_059488	P08684	CP3A4_HUMAN			7	684	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		194					P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.580G>A	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577972	0.65878	.	.	ENSG00000160868	ENST00000354593;ENST00000336411;ENST00000544160	T;T	0.69040	-0.37;-0.37	4.33	4.33	0.51752	.	0.089870	0.85682	D	0.000000	T	0.61739	0.2371	L	0.35487	1.065	0.58432	D	0.999998	P;P;B;B;B	0.49862	0.929;0.821;0.452;0.452;0.452	P;P;B;B;B	0.46825	0.528;0.528;0.211;0.211;0.211	T	0.67241	-0.5720	10	0.62326	D	0.03	.	14.2701	0.66147	0.0:1.0:0.0:0.0	.	44;121;194;194;194	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	N	44;194;50	ENSP00000346607:D44N;ENSP00000337915:D194N	ENSP00000337915:D194N	D	-	1	0	CYP3A4	99204003	1.000000	0.71417	0.983000	0.44433	0.686000	0.39977	4.626000	0.61269	1.941000	0.56285	0.491000	0.48974	GAC		0.403	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1				5	144	0	0	0	0.014758	0	5	144		
CPED1	79974	broad.mit.edu	37	7	120740099	120740099	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:120740099C>T	ENST00000310396.5	+	7	1336	c.869C>T	c.(868-870)tCg>tTg	p.S290L	CPED1_ENST00000423795.1_Missense_Mutation_p.S70L|CPED1_ENST00000450913.2_Missense_Mutation_p.S290L	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	290						endoplasmic reticulum (GO:0005783)		p.S290L(1)									TTCATTCATTCGACGGGCACA	0.428																																						uc003vjq.3		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(868-870)TCG>TTG		hypothetical protein LOC79974 isoform 1							157.0	134.0	141.0					7																	120740099		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120740099C>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.869C>T	7.37:g.120740099C>T	ENSP00000309772:p.Ser290Leu					C7orf58_uc003vjr.1_Missense_Mutation_p.S290L|C7orf58_uc003vjs.3_Missense_Mutation_p.S290L|C7orf58_uc003vjt.3_Missense_Mutation_p.S70L|C7orf58_uc010lkk.1_Missense_Mutation_p.S70L	p.S290L	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			7	1316	+	all_neural(327;0.117)		290					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.869C>T	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380134	0.82682	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.58	5.58	0.84498	.	0.403623	0.25804	N	0.028184	T	0.65668	0.2713	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.996;0.997	T	0.67469	-0.5663	10	0.62326	D	0.03	.	16.4822	0.84160	0.0:1.0:0.0:0.0	.	70;290;290	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	L	290;290;290;70;70	ENSP00000309772:S290L;ENSP00000398082:S290L;ENSP00000406122:S290L;ENSP00000415573:S70L;ENSP00000391952:S70L	ENSP00000309772:S290L	S	+	2	0	C7orf58	120527335	0.997000	0.39634	0.993000	0.49108	0.729000	0.41735	4.585000	0.60977	2.641000	0.89580	0.585000	0.79938	TCG		0.428	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1		NM_024913		7	64	0	0	0	0.047766	0	7	64		
CADPS2	93664	broad.mit.edu	37	7	122033257	122033257	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:122033257C>G	ENST00000449022.2	-	22	3020	c.3001G>C	c.(3001-3003)Gag>Cag	p.E1001Q	CADPS2_ENST00000334010.7_Missense_Mutation_p.E999Q|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000313070.7_Intron|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000412584.2_Intron	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1001	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CACGTGGACTCATATAAAGAA	0.458																																						uc010lkp.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3001-3003)GAG>CAG		Ca2+-dependent activator protein for secretion 2							67.0	66.0	66.0					7																	122033257		2030	4194	6224	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122033257C>G		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3001G>C	7.37:g.122033257C>G	ENSP00000398481:p.Glu1001Gln					CADPS2_uc011knx.1_Missense_Mutation_p.E376Q|CADPS2_uc003vkg.3_Intron|CADPS2_uc010lkq.2_Intron	p.E1001Q	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			21	3164	-			1001			Interaction with DRD2.|MHD1.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.3001G>C	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.21|17.21	3.331339|3.331339	0.60853|0.60853	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000334010;ENST00000420900;ENST00000449022|ENST00000462699	T;T|.	0.30714|.	1.52;1.52|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Munc13 homology 1 (1);|.	0.119478|.	0.56097|.	D|.	0.000031|.	T|T	0.55353|0.55353	0.1915|0.1915	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B;B|.	0.31318|.	0.048;0.319|.	B;B|.	0.28784|.	0.058;0.094|.	T|T	0.47586|0.47586	-0.9106|-0.9106	10|5	0.33141|.	T|.	0.24|.	-19.8083|-19.8083	20.0401|20.0401	0.97581|0.97581	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1005;1001|.	B7ZM57;Q86UW7|.	.;CAPS2_HUMAN|.	Q|I	174;999;1006;1001|194	ENSP00000333940:E999Q;ENSP00000398481:E1001Q|.	ENSP00000333940:E999Q|.	E|M	-|-	1|3	0|0	CADPS2|CADPS2	121820493|121820493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.413000|7.413000	0.80104|0.80104	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.458	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2		NM_017954		3	36	0	0	0	0.004672	0	3	36		
CPA4	51200	broad.mit.edu	37	7	129945685	129945685	+	Silent	SNP	G	G	A	rs374516163		TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:129945685G>A	ENST00000222482.4	+	6	544	c.516G>A	c.(514-516)ccG>ccA	p.P172P	CPA4_ENST00000445470.2_Silent_p.P139P|CPA4_ENST00000493259.1_Silent_p.P68P	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	172					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TGAGGCGGCCGGCCGTTTGGC	0.587																																						uc003vpr.2		NaN																	0				ovary(1)	1						c.(514-516)CCG>CCA		carboxypeptidase A4 preproprotein		G	,	0,4406		0,0,2203	68.0	64.0	65.0		417,516	-9.6	0.4	7		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CPA4	NM_001163446.1,NM_016352.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	139/389,172/422	129945685	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129945685G>A	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.516G>A	7.37:g.129945685G>A						CPA4_uc011kpd.1_Silent_p.P139P|CPA4_uc011kpe.1_Silent_p.P68P	p.P172P	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN			6	563	+	Melanoma(18;0.0435)		172					B7Z576|Q86UY9	Silent	SNP	ENST00000222482.4	37	c.516G>A	CCDS5818.1																																																																																				0.587	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1		NM_016352		6	140	0	0	0	0.038147	0	6	140		
KRBA1	84626	broad.mit.edu	37	7	149425660	149425660	+	Silent	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:149425660C>G	ENST00000485033.2	+	11	1521	c.1521C>G	c.(1519-1521)ctC>ctG	p.L507L	KRBA1_ENST00000319551.8_Silent_p.L507L|KRBA1_ENST00000255992.10_Silent_p.L507L|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	570										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGAATTGTCTCAAGGAGATAC	0.577																																						uc003wfz.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1519-1521)CTC>CTG		KRAB A domain containing 1							121.0	136.0	131.0					7																	149425660		2007	4173	6180	SO:0001819	synonymous_variant	84626							g.chr7:149425660C>G	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1521C>G	7.37:g.149425660C>G						KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.L175L	p.L507L	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		12	1920	+	Melanoma(164;0.165)|Ovarian(565;0.177)		507					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.1521C>G																																																																																					0.577	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3		NM_032534		7	221	0	0	0	0.047766	0	7	221		
ASAH1	427	broad.mit.edu	37	8	17918895	17918895	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr8:17918895T>C	ENST00000262097.6	-	10	1087	c.776A>G	c.(775-777)aAt>aGt	p.N259S	ASAH1_ENST00000381733.4_Missense_Mutation_p.N275S|ASAH1_ENST00000314146.10_Missense_Mutation_p.N253S|ASAH1_ENST00000417108.2_Missense_Mutation_p.N169S|ASAH1_ENST00000520781.1_Missense_Mutation_p.N234S	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	259					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		CCTTGTGCTATTTTCCAGAAC	0.323																																						uc003wyl.2		NaN																	0					0						c.(775-777)AAT>AGT		N-acylsphingosine amidohydrolase 1 isoform a							102.0	91.0	95.0					8																	17918895		2203	4300	6503	SO:0001583	missense	427				ceramide metabolic process	lysosome	ceramidase activity	g.chr8:17918895T>C	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.776A>G	8.37:g.17918895T>C	ENSP00000262097:p.Asn259Ser					ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.N234S|ASAH1_uc003wyn.2_Missense_Mutation_p.N275S|ASAH1_uc003wyo.2_Missense_Mutation_p.N253S	p.N259S	NM_177924	NP_808592	Q13510	ASAH1_HUMAN		Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)	10	1088	-			259					E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	c.776A>G	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133359	0.77662	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	5.48	5.48	0.80851	.	0.128498	0.64402	D	0.000001	T	0.81875	0.4915	L	0.57130	1.785	0.80722	D	1	B;P;B;B	0.37276	0.437;0.589;0.437;0.437	P;B;P;P	0.44422	0.449;0.395;0.449;0.449	T	0.80783	-0.1228	10	0.36615	T	0.2	-12.4124	15.5547	0.76184	0.0:0.0:0.0:1.0	.	253;275;234;259	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	S	259;275;234;169;253	ENSP00000262097:N259S;ENSP00000371152:N275S;ENSP00000427751:N234S;ENSP00000394125:N169S;ENSP00000326970:N253S	ENSP00000262097:N259S	N	-	2	0	ASAH1	17963175	1.000000	0.71417	0.964000	0.40570	0.941000	0.58515	7.188000	0.77739	2.218000	0.71995	0.528000	0.53228	AAT		0.323	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2		NM_004315		4	133	0	0	0	0.014758	0	4	133		
ANK1	286	broad.mit.edu	37	8	41573364	41573364	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr8:41573364C>T	ENST00000347528.4	-	14	1491	c.1408G>A	c.(1408-1410)Gac>Aac	p.D470N	ANK1_ENST00000289734.7_Missense_Mutation_p.D470N|ANK1_ENST00000265709.8_Missense_Mutation_p.D503N|ANK1_ENST00000379758.2_Missense_Mutation_p.D470N|ANK1_ENST00000396942.1_Missense_Mutation_p.D470N|ANK1_ENST00000396945.1_Missense_Mutation_p.D470N|ANK1_ENST00000352337.4_Missense_Mutation_p.D470N	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	470	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGGTCTGGTCATCCTGGACC	0.537																																						uc003xok.2		NaN																	0				ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(1408-1410)GAC>AAC		ankyrin 1 isoform 1							79.0	71.0	74.0					8																	41573364		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41573364C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1408G>A	8.37:g.41573364C>T	ENSP00000339620:p.Asp470Asn					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.D470N|ANK1_uc003xoj.2_Missense_Mutation_p.D470N|ANK1_uc003xol.2_Missense_Mutation_p.D470N|ANK1_uc003xom.2_Missense_Mutation_p.D503N	p.D470N	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		14	1492	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	470			ANK 14.|89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.1408G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	34	5.303208	0.95601	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	6.03	6.03	0.97812	Ankyrin repeat-containing domain (3);	0.050651	0.85682	D	0.000000	T	0.63343	0.2503	N	0.11154	0.105	0.80722	D	1	P;P;P;B;P	0.50617	0.937;0.937;0.701;0.291;0.937	P;P;B;B;P	0.59357	0.801;0.813;0.426;0.075;0.856	T	0.67078	-0.5761	10	0.49607	T	0.09	.	20.17	0.98157	0.0:1.0:0.0:0.0	.	503;470;470;470;470	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	N	470;470;470;470;470;470;503;470	ENSP00000339620:D470N;ENSP00000289734:D470N;ENSP00000369082:D470N;ENSP00000380149:D470N;ENSP00000380147:D470N;ENSP00000309131:D470N;ENSP00000265709:D503N	ENSP00000265709:D503N	D	-	1	0	ANK1	41692521	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	7.797000	0.85911	2.868000	0.98415	0.555000	0.69702	GAC		0.537	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1		NM_020475		4	50	0	0	0	0.021553	0	4	50		
KCNB2	9312	broad.mit.edu	37	8	73849986	73849986	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr8:73849986G>C	ENST00000523207.1	+	3	2984	c.2396G>C	c.(2395-2397)aGa>aCa	p.R799T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	799					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TTCTCTTCAAGAGAGAGGAGG	0.542																																						uc003xzb.2		NaN																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(2395-2397)AGA>ACA		potassium voltage-gated channel, Shab-related							45.0	49.0	48.0					8																	73849986		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849986G>C	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2396G>C	8.37:g.73849986G>C	ENSP00000430846:p.Arg799Thr						p.R799T	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2984	+	Breast(64;0.137)		799			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.2396G>C	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	8.648	0.897591	0.17686	.	.	ENSG00000182674	ENST00000523207	D	0.96830	-4.14	5.22	5.22	0.72569	.	1.621190	0.03773	N	0.260133	D	0.92479	0.7612	L	0.27053	0.805	0.29480	N	0.856423	B	0.23442	0.085	B	0.19666	0.026	T	0.82528	-0.0412	10	0.25751	T	0.34	.	6.2643	0.20917	0.2139:0.0:0.7861:0.0	.	799	Q92953	KCNB2_HUMAN	T	799	ENSP00000430846:R799T	ENSP00000430846:R799T	R	+	2	0	KCNB2	74012540	1.000000	0.71417	0.777000	0.31699	0.995000	0.86356	2.968000	0.49224	2.704000	0.92352	0.591000	0.81541	AGA		0.542	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1		NM_004770		3	37	0	0	0	0.014758	0	3	37		
NAA35	60560	broad.mit.edu	37	9	88557196	88557196	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr9:88557196G>A	ENST00000361671.5	+	2	255	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	NAA35_ENST00000376040.1_Missense_Mutation_p.R41Q	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	41					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GAAGCTTGTCGAGGTGAGTCT	0.403																																						uc004aoi.3		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(121-123)CGA>CAA		corneal wound healing-related protein							152.0	145.0	148.0					9																	88557196		2203	4300	6503	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88557196G>A	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.122G>A	9.37:g.88557196G>A	ENSP00000354972:p.Arg41Gln					NAA35_uc004aoj.3_Missense_Mutation_p.R41Q|NAA35_uc004aok.1_Missense_Mutation_p.R41Q	p.R41Q	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN			2	259	+			41					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.122G>A	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530734	0.45073	.	.	ENSG00000135040	ENST00000361671;ENST00000416045;ENST00000376040	.	.	.	5.11	4.2	0.49525	.	0.064020	0.64402	D	0.000010	T	0.42108	0.1188	N	0.19112	0.55	0.40498	D	0.980612	B;B	0.12013	0.005;0.004	B;B	0.08055	0.001;0.003	T	0.24799	-1.0150	9	0.22706	T	0.39	-7.2793	15.287	0.73835	0.0:0.1408:0.8592:0.0	.	41;41	Q5VZE6;Q5VZE5	.;NAA35_HUMAN	Q	41	.	ENSP00000354972:R41Q	R	+	2	0	NAA35	87747016	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.478000	0.53158	1.358000	0.45922	0.558000	0.71614	CGA		0.403	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1		NM_024635		7	176	0	0	0	0.069234	0	7	176		
OR13F1	138805	broad.mit.edu	37	9	107267011	107267011	+	Silent	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr9:107267011C>G	ENST00000334726.2	+	1	557	c.468C>G	c.(466-468)gcC>gcG	p.A156A		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GTCTCACTGCCATGGTGGAAA	0.478																																						uc011lvm.1		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(466-468)GCC>GCG		olfactory receptor, family 13, subfamily F,							139.0	130.0	133.0					9																	107267011		2203	4300	6503	SO:0001819	synonymous_variant	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267011C>G		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.468C>G	9.37:g.107267011C>G							p.A156A	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	468	+			156			Helical; Name=4; (Potential).		Q6IF50	Silent	SNP	ENST00000334726.2	37	c.468C>G	CCDS35087.1																																																																																				0.478	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1				5	129	0	0	0	0.038147	0	5	129		
CERCAM	51148	broad.mit.edu	37	9	131186476	131186476	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr9:131186476G>C	ENST00000372838.4	+	4	884	c.486G>C	c.(484-486)caG>caC	p.Q162H	CERCAM_ENST00000372842.1_Missense_Mutation_p.Q84H	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	162					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TCATGGGGCAGGGGCTTCCAG	0.612																																						uc004buz.3		NaN																	0				pancreas(1)	1						c.(484-486)CAG>CAC		cerebral endothelial cell adhesion molecule 1							99.0	110.0	106.0					9																	131186476		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131186476G>C	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.486G>C	9.37:g.131186476G>C	ENSP00000361929:p.Gln162His					CERCAM_uc004buy.1_Missense_Mutation_p.Q84H|CERCAM_uc010mxz.2_Missense_Mutation_p.Q84H|CERCAM_uc010mya.1_Missense_Mutation_p.Q3H	p.Q162H	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN			4	884	+			162					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.486G>C	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	G	9.007	0.981530	0.18812	.	.	ENSG00000167123	ENST00000372842;ENST00000447915;ENST00000420512;ENST00000372838;ENST00000413863	D;D;D	0.84660	-1.88;-1.88;-1.88	4.72	1.49	0.22878	.	0.692244	0.14120	N	0.340093	T	0.77987	0.4213	L	0.34521	1.04	0.09310	N	1	B	0.34241	0.444	B	0.39068	0.289	T	0.68059	-0.5509	10	0.66056	D	0.02	-10.8508	6.6166	0.22780	0.1846:0.1572:0.6582:0.0	.	162	Q5T4B2	GT253_HUMAN	H	84;84;84;162;115	ENSP00000361933:Q84H;ENSP00000416676:Q84H;ENSP00000361929:Q162H	ENSP00000361929:Q162H	Q	+	3	2	CERCAM	130226297	0.996000	0.38824	0.000000	0.03702	0.003000	0.03518	0.686000	0.25392	0.107000	0.17824	0.467000	0.42956	CAG		0.612	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2		NM_016174		6	146	0	0	0	0.02938	0	6	146		
SEC16A	9919	broad.mit.edu	37	9	139369336	139369336	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr9:139369336G>T	ENST00000371706.3	-	1	2231	c.2198C>A	c.(2197-2199)tCt>tAt	p.S733Y	SEC16A_ENST00000290037.6_Missense_Mutation_p.S733Y|SEC16A_ENST00000431893.2_Missense_Mutation_p.S733Y|SEC16A_ENST00000313050.7_Missense_Mutation_p.S911Y			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	733					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGAAGCACCAGAACCTTGTGG	0.468																																						uc004chx.2		NaN																	0					0						c.(2731-2733)TCT>TAT		SEC16 homolog A							73.0	73.0	73.0					9																	139369336		1913	4138	6051	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139369336G>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2198C>A	9.37:g.139369336G>T	ENSP00000360771:p.Ser733Tyr					SEC16A_uc004chv.3_Intron|SEC16A_uc004chw.2_Missense_Mutation_p.S911Y|SEC16A_uc010nbn.2_Missense_Mutation_p.S911Y|SEC16A_uc010nbo.1_Missense_Mutation_p.S911Y	p.S911Y	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	3	3041	-		Myeloproliferative disorder(178;0.0511)	733					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.2732C>A		.	.	.	.	.	.	.	.	.	.	G	16.48	3.134582	0.56828	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.24723	1.84;1.86;1.86;1.86	5.41	4.51	0.55191	.	0.690178	0.14773	N	0.299294	T	0.42787	0.1218	L	0.51422	1.61	0.80722	D	1	D;D;D	0.59767	0.976;0.986;0.986	P;P;P	0.59288	0.72;0.855;0.855	T	0.34850	-0.9812	10	0.72032	D	0.01	-5.3663	15.7773	0.78232	0.0:0.1363:0.8637:0.0	.	911;733;733	F1T0I1;O15027-5;O15027-4	.;.;.	Y	911;733;733;733	ENSP00000325827:S911Y;ENSP00000360771:S733Y;ENSP00000290037:S733Y;ENSP00000387583:S733Y	ENSP00000290037:S733Y	S	-	2	0	SEC16A	138489157	0.978000	0.34361	0.118000	0.21660	0.793000	0.44817	4.655000	0.61476	1.414000	0.47017	0.655000	0.94253	TCT		0.468	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1		XM_088459		5	93	1	0	5.9392e-07	0.021553	6.74576e-07	5	93		
BMX	660	broad.mit.edu	37	X	15540611	15540611	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chrX:15540611G>A	ENST00000357607.2	+	7	841	c.653G>A	c.(652-654)aGc>aAc	p.S218N	BMX_ENST00000342014.6_Missense_Mutation_p.S218N|BMX_ENST00000348343.6_Missense_Mutation_p.S218N			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	218					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CAATATGACAGCAACTCAAAG	0.438																																						uc004cww.2		NaN																	0				lung(3)|ovary(2)	5						c.(652-654)AGC>AAC		BMX non-receptor tyrosine kinase							121.0	100.0	108.0					X																	15540611		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15540611G>A	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.653G>A	X.37:g.15540611G>A	ENSP00000350224:p.Ser218Asn					BMX_uc004cwx.3_Missense_Mutation_p.S218N|BMX_uc004cwy.3_Missense_Mutation_p.S218N	p.S218N	NM_203281	NP_975010	P51813	BMX_HUMAN			7	841	+	Hepatocellular(33;0.183)		218					A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.653G>A	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	G	8.619	0.890916	0.17613	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.75938	-0.98;-0.98;-0.98	3.48	1.59	0.23543	.	0.870112	0.10283	N	0.693233	T	0.48132	0.1483	N	0.08118	0	0.09310	N	1	P	0.37466	0.596	B	0.26864	0.074	T	0.31194	-0.9952	10	0.48119	T	0.1	.	7.4552	0.27261	0.0:0.0:0.5366:0.4634	.	218	P51813	BMX_HUMAN	N	218	ENSP00000350224:S218N;ENSP00000308774:S218N;ENSP00000340082:S218N	ENSP00000340082:S218N	S	+	2	0	BMX	15450532	0.575000	0.26692	0.000000	0.03702	0.243000	0.25628	1.919000	0.40015	0.291000	0.22468	0.468000	0.43344	AGC		0.438	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1		NM_001721		3	67	0	0	0	0.004672	0	3	67		
TAB3	257397	broad.mit.edu	37	X	30872793	30872793	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chrX:30872793G>C	ENST00000378933.1	-	3	1166	c.989C>G	c.(988-990)cCc>cGc	p.P330R	TAB3_ENST00000288422.2_Missense_Mutation_p.P330R|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378932.2_Missense_Mutation_p.P330R|TAB3_ENST00000378930.3_Missense_Mutation_p.P330R	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	330	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ATATGGATGGGGTGGAGTAGT	0.478																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.2		NaN																	0				ovary(1)	1						c.(988-990)CCC>CGC		mitogen-activated protein kinase kinase kinase 7							145.0	122.0	130.0					X																	30872793		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30872793G>C	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.989C>G	X.37:g.30872793G>C	ENSP00000368215:p.Pro330Arg					TAB3_uc004dck.2_Missense_Mutation_p.P330R|TAB3_uc010ngl.2_Missense_Mutation_p.P330R	p.P330R	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			6	1652	-			330			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.989C>G	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001700	0.54254	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.72725	-0.64;-0.64;-0.64;-0.68	5.06	5.06	0.68205	.	0.203832	0.52532	D	0.000069	T	0.69342	0.3100	N	0.19112	0.55	0.42799	D	0.993921	D;D	0.58268	0.982;0.969	P;P	0.53549	0.729;0.54	T	0.75485	-0.3301	10	0.72032	D	0.01	-2.2362	17.8235	0.88657	0.0:0.0:1.0:0.0	.	330;330	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	R	330	ENSP00000368215:P330R;ENSP00000368212:P330R;ENSP00000288422:P330R;ENSP00000368214:P330R	ENSP00000288422:P330R	P	-	2	0	TAB3	30782714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.696000	0.74598	2.229000	0.72834	0.538000	0.68166	CCC		0.478	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1		NM_152787		5	40	0	0	0	0.014758	0	5	40		
ZXDB	158586	broad.mit.edu	37	X	57619475	57619475	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chrX:57619475C>T	ENST00000374888.1	+	1	1207	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	332	Required for interaction with ZXDC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CGACAAACTGCGGCCCTTTGG	0.602																																						uc004dvd.2		NaN																	0					0						c.(994-996)CGG>TGG		zinc finger, X-linked, duplicated B							32.0	30.0	31.0					X																	57619475		2203	4300	6503	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619475C>T	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.994C>T	X.37:g.57619475C>T	ENSP00000364023:p.Arg332Trp						p.R332W	NM_007157	NP_009088	P98169	ZXDB_HUMAN			1	1207	+			332			Required for interaction with ZXDC (By similarity).		A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.994C>T	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	13.47	2.246140	0.39697	.	.	ENSG00000198455	ENST00000374888	T	0.17854	2.25	3.35	0.165	0.14995	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.43678	0.1258	M	0.91717	3.235	0.58432	D	0.999997	D	0.89917	1.0	D	0.70016	0.967	T	0.42965	-0.9420	10	0.87932	D	0	.	9.5138	0.39093	0.5433:0.4567:0.0:0.0	.	332	P98169	ZXDB_HUMAN	W	332	ENSP00000364023:R332W	ENSP00000364023:R332W	R	+	1	2	ZXDB	57636200	0.999000	0.42202	0.923000	0.36655	0.406000	0.30931	1.642000	0.37207	-0.206000	0.10203	0.483000	0.47432	CGG		0.602	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1		NM_007157		3	13	0	0	0	0.004672	0	3	13		
PGK1	5230	broad.mit.edu	37	X	77372877	77372877	+	Silent	SNP	C	C	T	rs201708335		TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chrX:77372877C>T	ENST00000373316.4	+	5	653	c.486C>T	c.(484-486)gtC>gtT	p.V162V	PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Silent_p.V134V	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	162					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	ATGTCTATGTCAATGATGCTT	0.433																																						uc004ecz.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(484-486)GTC>GTT		phosphoglycerate kinase 1							73.0	60.0	64.0					X																	77372877		2203	4300	6503	SO:0001819	synonymous_variant	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77372877C>T	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.486C>T	X.37:g.77372877C>T						PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Silent_p.V134V	p.V162V	NM_000291	NP_000282	P00558	PGK1_HUMAN			5	658	+			162					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Silent	SNP	ENST00000373316.4	37	c.486C>T	CCDS14438.1																																																																																				0.433	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1				4	45	0	0	0	0.021553	0	4	45		
PANX2	56666	broad.mit.edu	37	22	50616632	50616633	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr22:50616632_50616633delTG	ENST00000395842.2	+	2	1491_1492	c.1491_1492delTG	c.(1489-1494)cctgccfs	p.A498fs	PANX2_ENST00000159647.5_Frame_Shift_Del_p.A498fs	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	498					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		gccccgcccctgcccccgcccc	0.748																																						uc003bjn.3		NaN																	0				breast(1)	1						c.(1489-1494)CCTGCCfs		pannexin 2 isoform 1																																				SO:0001589	frameshift_variant	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50616632_50616633delTG		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1491_1492delTG	22.37:g.50616632_50616633delTG	ENSP00000379183:p.Ala498fs					PANX2_uc003bjp.3_Frame_Shift_Del_p.P363fs|PANX2_uc003bjo.3_Frame_Shift_Del_p.P497fs	p.P497fs	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	2	1491_1492	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	497_498			Cytoplasmic (Potential).		B7Z684|Q96RD5|Q9UGX8	Frame_Shift_Del	DEL	ENST00000395842.2	37	c.1491_1492delTG	CCDS14085.2																																																																																				0.748	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3		NM_052839		3	5	NaN	NaN	NaN	NaN	NaN	3	5	---	---
