#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ATP10B	23120	broad.mit.edu	37	5	160033839	160033839	+	Silent	SNP	C	C	A			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr5:160033839C>A	ENST00000327245.5	-	19	3939	c.3093G>T	c.(3091-3093)acG>acT	p.T1031T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1031					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T1031T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGGAGTGGCGTGGAGCGGC	0.512																																						ENST00000327245.5																			1	Substitution - coding silent(1)	p.T1031T(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(3091-3093)acG>acT		ATPase, class V, type 10B							93.0	97.0	95.0					5																	160033839		2099	4222	6321	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160033839C>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3093G>T	5.37:g.160033839C>A							p.T1031T	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		19	3939	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1031					Q9H725	Silent	SNP	ENST00000327245.5	37	c.3093G>T	CCDS43394.1																																																																																				0.512	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		27	99	1	0	8.24728e-16	0.681144	9.85092e-16	27	99				
CEP170B	283638	broad.mit.edu	37	14	105361169	105361169	+	Silent	SNP	A	A	C			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr14:105361169A>C	ENST00000414716.3	+	19	4767	c.4539A>C	c.(4537-4539)tcA>tcC	p.S1513S	CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000453495.1_Silent_p.S1549S|CEP170B_ENST00000418279.1_Silent_p.S1443S	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1548						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S1513S(3)|p.S1479S(3)|p.S1478S(1)									GCCCACCCTCACCCGCCTCAG	0.711																																						ENST00000453495.1																			7	Substitution - coding silent(7)	p.S1513S(3)|p.S1479S(3)|p.S1478S(1)	prostate(3)|kidney(2)|central_nervous_system(2)								c.(4645-4647)tcA>tcC		centrosomal protein 170B							11.0	15.0	14.0					14																	105361169		1915	4097	6012	SO:0001819	synonymous_variant	283638							g.chr14:105361169A>C	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4539A>C	14.37:g.105361169A>C						CEP170B_ENST00000418279.1_Silent_p.S1443S|CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000414716.3_Silent_p.S1513S	p.S1549S							19	4875	+								Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.4647A>C	CCDS45175.1																																																																																				0.711	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		7	19	0	0	0	0.435327	0	7	19				
SPAG17	200162	broad.mit.edu	37	1	118554950	118554950	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:118554950C>G	ENST00000336338.5	-	30	4398	c.4333G>C	c.(4333-4335)Gat>Cat	p.D1445H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1445						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.D1445H(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CGAGTACCATCTTTCCTTTCA	0.393																																						ENST00000336338.5																			1	Substitution - Missense(1)	p.D1445H(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4333-4335)Gat>Cat		sperm associated antigen 17							193.0	163.0	174.0					1																	118554950		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118554950C>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4333G>C	1.37:g.118554950C>G	ENSP00000337804:p.Asp1445His						p.D1445H	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	30	4398	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1445					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4333G>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829523	0.50845	.	.	ENSG00000155761	ENST00000336338	T	0.34667	1.35	4.72	4.72	0.59763	.	0.143197	0.64402	D	0.000010	T	0.53012	0.1770	M	0.71581	2.175	0.43719	D	0.996198	D	0.89917	1.0	D	0.91635	0.999	T	0.57705	-0.7765	10	0.72032	D	0.01	.	16.6166	0.84917	0.0:1.0:0.0:0.0	.	1445	Q6Q759	SPG17_HUMAN	H	1445	ENSP00000337804:D1445H	ENSP00000337804:D1445H	D	-	1	0	SPAG17	118356473	0.999000	0.42202	0.998000	0.56505	0.338000	0.28826	5.205000	0.65186	2.460000	0.83146	0.557000	0.71058	GAT		0.393	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		14	50	0	0	0	0.457914	0	14	50				
SCML4	256380	broad.mit.edu	37	6	108042009	108042009	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr6:108042009G>A	ENST00000369020.3	-	6	1116	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	SCML4_ENST00000369022.2_Missense_Mutation_p.R233C|SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369021.3_Missense_Mutation_p.R262C|SCML4_ENST00000369025.2_Missense_Mutation_p.R49C	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	291	SAM.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R262C(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGGCTAGTGCGGGGACCACCA	0.637																																						ENST00000369022.2																			1	Substitution - Missense(1)	p.R262C(1)	prostate(1)	endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25						c.(697-699)Cgc>Tgc		sex comb on midleg-like 4 (Drosophila)							48.0	55.0	52.0					6																	108042009		2203	4300	6503	SO:0001583	missense	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108042009G>A		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.871C>T	6.37:g.108042009G>A	ENSP00000358016:p.Arg291Cys					SCML4_ENST00000369021.3_Missense_Mutation_p.R262C|SCML4_ENST00000369020.3_Missense_Mutation_p.R291C|SCML4_ENST00000369025.2_Missense_Mutation_p.R49C|SCML4_ENST00000479803.1_5'UTR	p.R233C			Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	5	906	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	291					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	c.697C>T	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934789	0.34189	.	.	ENSG00000146285	ENST00000369022;ENST00000369025;ENST00000369020;ENST00000369021	T;T;T	0.53640	0.84;0.83;0.61	5.19	2.47	0.30058	.	0.622280	0.17209	N	0.182794	T	0.50034	0.1592	M	0.70275	2.135	0.09310	N	0.999995	B;D;D	0.89917	0.002;0.998;1.0	B;P;D	0.69824	0.001;0.719;0.966	T	0.42682	-0.9437	10	0.59425	D	0.04	.	10.1039	0.42521	0.2135:0.0:0.7865:0.0	.	291;291;262	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	C	233;49;291;262	ENSP00000358018:R233C;ENSP00000358016:R291C;ENSP00000358017:R262C	ENSP00000358016:R291C	R	-	1	0	SCML4	108148702	0.980000	0.34600	0.002000	0.10522	0.152000	0.21847	2.222000	0.42926	0.356000	0.24157	0.650000	0.86243	CGC		0.637	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		4	87	0	0	0	0.150653	0	4	87				
PCSK5	5125	broad.mit.edu	37	9	78790082	78790082	+	Intron	SNP	G	G	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr9:78790082G>T	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Missense_Mutation_p.R646M|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTAAAAAGAGGCAGCTCATG	0.483																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1936-1938)aGg>aTg		proprotein convertase subtilisin/kexin type 5							68.0	66.0	67.0					9																	78790082		2203	4300	6503	SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790082G>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+37G>T	9.37:g.78790082G>T						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.R646M			Q92824	PCSK5_HUMAN			14	2449	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1937G>T	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446981	0.25987	.	.	ENSG00000099139	ENST00000376767;ENST00000396108	T	0.70045	-0.45	3.82	0.639	0.17747	.	.	.	.	.	T	0.45558	0.1348	.	.	.	0.09310	N	1	B	0.22683	0.073	B	0.15484	0.013	T	0.29488	-1.0010	8	0.39692	T	0.17	.	1.986	0.03436	0.1088:0.1655:0.4224:0.3033	.	646	B1AMG5	.	M	646	ENSP00000365958:R646M	ENSP00000365958:R646M	R	+	2	0	PCSK5	77979902	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.249000	0.08842	0.397000	0.25310	0.650000	0.86243	AGG		0.483	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	46	1	0	7.48243e-07	0.335167	8.46696e-07	7	46				
PRRX1	5396	broad.mit.edu	37	1	170688957	170688957	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:170688957G>A	ENST00000239461.6	+	2	645	c.332G>A	c.(331-333)cGt>cAt	p.R111H	PRRX1_ENST00000367760.3_Missense_Mutation_p.R111H|PRRX1_ENST00000497230.2_Missense_Mutation_p.R111H	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	111					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.R111H(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTTTGGAGCGTGTCTTTGAG	0.512																																						ENST00000239461.6																			1	Substitution - Missense(1)	p.R111H(1)	prostate(1)	large_intestine(2)|ovary(1)	3						c.(331-333)cGt>cAt		paired related homeobox 1							114.0	101.0	105.0					1																	170688957		2203	4300	6503	SO:0001583	missense	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170688957G>A	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.332G>A	1.37:g.170688957G>A	ENSP00000239461:p.Arg111His					PRRX1_ENST00000497230.2_Missense_Mutation_p.R111H|PRRX1_ENST00000367760.3_Missense_Mutation_p.R111H	p.R111H	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN			2	645	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		111					B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	c.332G>A	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091206	0.94149	.	.	ENSG00000116132	ENST00000553786;ENST00000367760;ENST00000239461;ENST00000497230	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.32	5.32	0.75619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.61275	0.886;0.872	D	0.98143	1.0437	10	0.87932	D	0	.	17.5667	0.87922	0.0:0.0:1.0:0.0	.	111;111	P54821;P54821-2	PRRX1_HUMAN;.	H	64;111;111;111	ENSP00000451943:R64H;ENSP00000356734:R111H;ENSP00000239461:R111H;ENSP00000450762:R111H	ENSP00000239461:R111H	R	+	2	0	PRRX1	168955581	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	4.923000	0.63412	2.463000	0.83235	0.655000	0.94253	CGT		0.512	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		20	61	0	0	0	0.592651	0	20	61				
DNM1P47	100216544	broad.mit.edu	37	15	102305092	102305092	+	RNA	SNP	A	A	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr15:102305092A>G	ENST00000561463.1	+	0	13138									DNM1 pseudogene 47																		CATGAACACCATCAGCACAGC	0.632																																						ENST00000561463.1																			0																																																			0							g.chr15:102305092A>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305092A>G														0	13138	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	26	0	0	0	0.150653	0	4	26				
FAM174A	345757	broad.mit.edu	37	5	99871330	99871330	+	Silent	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr5:99871330C>T	ENST00000312637.4	+	1	322	c.96C>T	c.(94-96)gtC>gtT	p.V32V	CTD-2001C12.1_ENST00000499025.1_lincRNA	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	32						integral component of membrane (GO:0016021)		p.V32V(1)		breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCCTGGCAGTCCTGCTGCAGG	0.672																																						ENST00000312637.4																			1	Substitution - coding silent(1)	p.V32V(1)	prostate(1)	breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(94-96)gtC>gtT		family with sequence similarity 174, member A							29.0	35.0	33.0					5																	99871330		2174	4259	6433	SO:0001819	synonymous_variant	345757					integral to membrane		g.chr5:99871330C>T	AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"""transmembrane protein 157"""	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.96C>T	5.37:g.99871330C>T							p.V32V	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN			1	322	+			32					A8K0H4	Silent	SNP	ENST00000312637.4	37	c.96C>T	CCDS4090.1																																																																																				0.672	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250631.2	NM_198507		7	82	0	0	0	0.335167	0	7	82				
PCDHA6	56142	broad.mit.edu	37	5	140209661	140209661	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr5:140209661C>T	ENST00000529310.1	+	1	2099	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	662	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	calcium ion binding (GO:0005509)	p.T662M(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACAGCGACGGCCACGGTT	0.697																																						ENST00000529310.1																			2	Substitution - Missense(2)	p.T662M(2)	prostate(2)	NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1984-1986)aCg>aTg									37.0	44.0	42.0					5																	140209661		2203	4299	6502	SO:0001583	missense	0							g.chr5:140209661C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1985C>T	5.37:g.140209661C>T	ENSP00000433378:p.Thr662Met					PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	p.T662M	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2099	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1985C>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619553	0.28801	.	.	ENSG00000081842	ENST00000529310	T	0.57107	0.42	3.98	3.98	0.46160	Cadherin (4);Cadherin-like (1);	0.000000	0.37715	U	0.001965	T	0.76018	0.3929	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.69824	0.852;0.966	T	0.80970	-0.1144	10	0.66056	D	0.02	.	10.3652	0.44019	0.0:0.908:0.0:0.092	.	662;662	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	M	662	ENSP00000433378:T662M	ENSP00000433378:T662M	T	+	2	0	PCDHA6	140189845	0.994000	0.37717	0.821000	0.32701	0.008000	0.06430	3.293000	0.51779	2.216000	0.71823	0.306000	0.20318	ACG		0.697	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		23	69	0	0	0	0.624587	0	23	69				
KNDC1	85442	broad.mit.edu	37	10	135012126	135012126	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr10:135012126G>T	ENST00000304613.3	+	14	2135	c.2114G>T	c.(2113-2115)gGc>gTc	p.G705V	KNDC1_ENST00000368572.2_Missense_Mutation_p.G705V|KNDC1_ENST00000368571.2_Missense_Mutation_p.G640V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	705					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.G705V(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGAGGGGCGGCCAGAGGGAG	0.721																																						ENST00000304613.3																			2	Substitution - Missense(2)	p.G705V(2)	prostate(2)	NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(2113-2115)gGc>gTc		kinase non-catalytic C-lobe domain (KIND) containing 1							9.0	12.0	11.0					10																	135012126		2165	4255	6420	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135012126G>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2114G>T	10.37:g.135012126G>T	ENSP00000304437:p.Gly705Val					KNDC1_ENST00000368571.2_Missense_Mutation_p.G640V|KNDC1_ENST00000368572.2_Missense_Mutation_p.G705V	p.G705V			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	14	2135	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	705					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.2114G>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	7.258	0.604609	0.14002	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.21191	2.52;2.52;2.02	3.29	-1.61	0.08399	.	2.121460	0.01980	N	0.044753	T	0.14570	0.0352	L	0.32530	0.975	0.09310	N	1	B;B;B	0.26809	0.16;0.069;0.005	B;B;B	0.25405	0.06;0.023;0.007	T	0.11470	-1.0586	10	0.40728	T	0.16	-3.6176	0.7351	0.00964	0.2417:0.1843:0.3859:0.188	.	705;640;705	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	V	705;705;640	ENSP00000304437:G705V;ENSP00000357561:G705V;ENSP00000357560:G640V	ENSP00000304437:G705V	G	+	2	0	KNDC1	134862116	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.318000	0.19504	-0.728000	0.04882	0.306000	0.20318	GGC		0.721	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		3	20	1	0	1.23904e-05	0.184627	1.36612e-05	3	20				
ST5	6764	broad.mit.edu	37	11	8729383	8729383	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr11:8729383G>C	ENST00000534127.1	-	15	2756	c.2371C>G	c.(2371-2373)Cgg>Ggg	p.R791G	ST5_ENST00000526757.1_Missense_Mutation_p.R371G|ST5_ENST00000530438.1_Missense_Mutation_p.R371G|ST5_ENST00000357665.1_Missense_Mutation_p.R791G|ST5_ENST00000534278.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R791G|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526099.1_Missense_Mutation_p.R304G|ST5_ENST00000530991.1_Missense_Mutation_p.R263G	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	791	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R791R(1)|p.R791G(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCTGGCAACCGGGGCCCTTTC	0.577																																						ENST00000534127.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R791R(1)|p.R791G(1)	large_intestine(1)|prostate(1)	NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2371-2373)Cgg>Ggg		suppression of tumorigenicity 5							48.0	43.0	45.0					11																	8729383		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8729383G>C	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2371C>G	11.37:g.8729383G>C	ENSP00000433528:p.Arg791Gly					ST5_ENST00000534278.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.R263G|ST5_ENST00000526099.1_Missense_Mutation_p.R304G|ST5_ENST00000530438.1_Missense_Mutation_p.R371G|ST5_ENST00000357665.1_Missense_Mutation_p.R791G|ST5_ENST00000526757.1_Missense_Mutation_p.R371G|ST5_ENST00000313726.6_Missense_Mutation_p.R791G|RPL27A_ENST00000531102.1_Intron	p.R791G	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	15	2756	-			791			DENN.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.2371C>G	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291927	0.59976	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020	T;T;T;T;T;T;T;T	0.25579	2.81;3.12;3.12;2.8;3.12;2.79;2.81;1.79	4.35	4.35	0.52113	DENN (2);	0.000000	0.64402	D	0.000001	T	0.44871	0.1314	M	0.90595	3.13	0.80722	D	1	B;B;B	0.24618	0.016;0.107;0.015	B;B;B	0.34301	0.013;0.179;0.127	T	0.56637	-0.7946	10	0.87932	D	0	-3.4894	17.057	0.86536	0.0:0.0:1.0:0.0	.	304;371;791	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	G	371;791;791;263;791;304;371;263	ENSP00000435097:R371G;ENSP00000433528:R791G;ENSP00000319678:R791G;ENSP00000432887:R263G;ENSP00000350294:R791G;ENSP00000436808:R304G;ENSP00000436802:R371G;ENSP00000433588:R263G	ENSP00000319678:R791G	R	-	1	2	ST5	8685959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.218000	0.95166	2.280000	0.76307	0.555000	0.69702	CGG		0.577	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		3	20	0	0	0	0.115264	0	3	20				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			6	156	0	0	0	0.217242	0	6	156				
ZNF689	115509	broad.mit.edu	37	16	30620889	30620889	+	Silent	SNP	A	A	C			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr16:30620889A>C	ENST00000287461.3	-	2	613	c.276T>G	c.(274-276)gcT>gcG	p.A92A	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	92	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A92A(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GCGGATCTAGAGCAGCCGGTT	0.547																																						ENST00000287461.3																			1	Substitution - coding silent(1)	p.A92A(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(274-276)gcT>gcG		zinc finger protein 689							110.0	105.0	107.0					16																	30620889		2197	4300	6497	SO:0001819	synonymous_variant	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30620889A>C	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.276T>G	16.37:g.30620889A>C						ZNF689_ENST00000566673.1_5'UTR	p.A92A	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		2	613	-			92			KRAB.		Q658J5	Silent	SNP	ENST00000287461.3	37	c.276T>G	CCDS10686.1																																																																																				0.547	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		20	64	0	0	0	0.575678	0	20	64				
RASGRF1	5923	broad.mit.edu	37	15	79382656	79382656	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr15:79382656G>A	ENST00000419573.3	-	1	459	c.185C>T	c.(184-186)cCc>cTc	p.P62L	RASGRF1_ENST00000558480.2_Missense_Mutation_p.P62L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	62	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P62L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGCCCCGAGGGCCGCGAGCT	0.642																																						ENST00000419573.3																			1	Substitution - Missense(1)	p.P62L(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(184-186)cCc>cTc		Ras protein-specific guanine nucleotide-releasing factor 1							64.0	53.0	56.0					15																	79382656		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79382656G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.185C>T	15.37:g.79382656G>A	ENSP00000405963:p.Pro62Leu					RASGRF1_ENST00000558480.2_Missense_Mutation_p.P62L	p.P62L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			1	459	-			62			PH 1.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.185C>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056330	0.76074	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.15017	2.46	3.69	3.69	0.42338	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.171734	0.37669	N	0.002000	T	0.43942	0.1270	M	0.86343	2.81	0.80722	D	1	D;D;D	0.59767	0.986;0.975;0.968	D;D;P	0.65573	0.917;0.936;0.818	T	0.54118	-0.8341	10	0.87932	D	0	.	12.9679	0.58494	0.0:0.0:1.0:0.0	.	62;62;62	Q8IUU5;Q13972;F8VPA5	.;RGRF1_HUMAN;.	L	62	ENSP00000405963:P62L	ENSP00000378224:P62L	P	-	2	0	RASGRF1	77169711	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.549000	0.90672	1.899000	0.54978	0.313000	0.20887	CCC		0.642	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		16	47	0	0	0	0.479597	0	16	47				
TRIB2	28951	broad.mit.edu	37	2	12863619	12863619	+	Silent	SNP	C	C	T	rs542940298		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr2:12863619C>T	ENST00000405331.3	+	2	574	c.504C>T	c.(502-504)gaC>gaT	p.D168D	TRIB2_ENST00000155926.4_Silent_p.D168D|TRIB2_ENST00000381465.2_Silent_p.D32D					tribbles pseudokinase 2									p.D168D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTGCCATGACGGGGGGCTGG	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18087	0.0		0.0	False		,,,				2504	0.0					ENST00000155926.4																			1	Substitution - coding silent(1)	p.D168D(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(502-504)gaC>gaT		tribbles pseudokinase 2							54.0	57.0	56.0					2																	12863619		2203	4300	6503	SO:0001819	synonymous_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12863619C>T	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.504C>T	2.37:g.12863619C>T						TRIB2_ENST00000405331.3_Silent_p.D168D|TRIB2_ENST00000381465.2_Silent_p.D32D	p.D168D	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN			2	1923	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		168			Protein kinase.			Silent	SNP	ENST00000405331.3	37	c.504C>T																																																																																					0.577	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643		15	76	0	0	0	0.479597	0	15	76				
CROCCP2	84809	broad.mit.edu	37	1	16945780	16945780	+	lincRNA	SNP	C	C	T	rs139443204		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:16945780C>T	ENST00000412962.1	-	0	1739				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											ACAAGAATCCCGGACGTGGAT	0.567																																						ENST00000412962.1																			0																																																			0							g.chr1:16945780C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945780C>T														0	1739	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.567	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		8	35	0	0	0	0.335167	0	8	35				
THEG	51298	broad.mit.edu	37	19	375680	375680	+	Silent	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr19:375680C>T	ENST00000342640.4	-	1	333	c.291G>A	c.(289-291)gaG>gaA	p.E97E	THEG_ENST00000346878.2_Silent_p.E97E	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	97					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.E97E(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGAATGTCCTCTTCCAAGT	0.657																																						ENST00000342640.4																			1	Substitution - coding silent(1)	p.E97E(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(289-291)gaG>gaA		theg spermatid protein							114.0	122.0	119.0					19																	375680		2203	4300	6503	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:375680C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.291G>A	19.37:g.375680C>T						THEG_ENST00000346878.2_Silent_p.E97E	p.E97E	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	333	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	97					A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.291G>A	CCDS12025.1																																																																																				0.657	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			36	169	0	0	0	0.812448	0	36	169				
PCDHGB3	56102	broad.mit.edu	37	5	140751900	140751900	+	Missense_Mutation	SNP	C	C	T	rs376897075		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr5:140751900C>T	ENST00000576222.1	+	1	2070	c.1939C>T	c.(1939-1941)Cgt>Tgt	p.R647C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	647	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCACTGTGCGTGATGGAGG	0.652																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1939-1941)Cgt>Tgt				C	,,,,,,,CYS/ARG,CYS/ARG	0,4226		0,0,2113	45.0	51.0	49.0		,,,,,,,1939,1939	1.1	0.0	5		49	1,8485		0,1,4242	no	intron,intron,intron,intron,intron,intron,intron,missense,missense	PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032097.1	,,,,,,,180,180	0,1,6355	TT,TC,CC		0.0118,0.0,0.0079	,,,,,,,,	,,,,,,,647/930,647/815	140751900	1,12711	2113	4243	6356	SO:0001583	missense	0							g.chr5:140751900C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1939C>T	5.37:g.140751900C>T	ENSP00000461862:p.Arg647Cys					PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.R647C	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2070	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1939C>T	CCDS58980.1																																																																																				0.652	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		14	89	0	0	0	0.479597	0	14	89				
CCT8L2	150160	broad.mit.edu	37	22	17073169	17073169	+	Missense_Mutation	SNP	C	C	A	rs573220545		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr22:17073169C>A	ENST00000359963.3	-	1	531	c.272G>T	c.(271-273)cGg>cTg	p.R91L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	91					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.R91L(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCCTGCTTCCCGGAGGAGCCA	0.602																																						ENST00000359963.3																			1	Substitution - Missense(1)	p.R91L(1)	prostate(1)	breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(271-273)cGg>cTg		chaperonin containing TCP1, subunit 8 (theta)-like 2							74.0	60.0	65.0					22																	17073169		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073169C>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.272G>T	22.37:g.17073169C>A	ENSP00000353048:p.Arg91Leu						p.R91L	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	531	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	91					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.272G>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	8.895	0.954924	0.18431	.	.	ENSG00000198445	ENST00000359963	T	0.79454	-1.27	2.0	2.0	0.26442	.	0.264998	0.19890	U	0.103744	T	0.68146	0.2969	L	0.44542	1.39	0.25029	N	0.991289	B	0.18741	0.03	B	0.24701	0.055	T	0.63457	-0.6633	10	0.87932	D	0	-15.0592	7.4831	0.27417	0.0:1.0:0.0:0.0	.	91	Q96SF2	TCPQM_HUMAN	L	91	ENSP00000353048:R91L	ENSP00000353048:R91L	R	-	2	0	CCT8L2	15453169	0.050000	0.20438	0.175000	0.22980	0.102000	0.19082	0.014000	0.13333	1.126000	0.42016	0.393000	0.25936	CGG		0.602	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			3	47	1	0	0.115264	0.115264	0.118008	3	47				
LRRC47	57470	broad.mit.edu	37	1	3697704	3697704	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:3697704G>C	ENST00000378251.1	-	7	1727	c.1700C>G	c.(1699-1701)cCg>cGg	p.P567R	RN7SL574P_ENST00000581512.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	567							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)	p.P567R(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GGCCTTGGACGGGTACACCAC	0.652																																						ENST00000378251.1																			1	Substitution - Missense(1)	p.P567R(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1699-1701)cCg>cGg		leucine rich repeat containing 47							65.0	71.0	69.0					1																	3697704		2203	4300	6503	SO:0001583	missense	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3697704G>C	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1700C>G	1.37:g.3697704G>C	ENSP00000367498:p.Pro567Arg						p.P567R	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	7	1727	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	567					Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	c.1700C>G	CCDS51.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463835	0.84425	.	.	ENSG00000130764	ENST00000378251	T	0.71817	-0.6	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.83188	0.5200	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85166	0.0995	10	0.87932	D	0	-32.6402	17.5952	0.88010	0.0:0.0:1.0:0.0	.	567	Q8N1G4	LRC47_HUMAN	R	567	ENSP00000367498:P567R	ENSP00000367498:P567R	P	-	2	0	LRRC47	3687564	1.000000	0.71417	0.948000	0.38648	0.828000	0.46876	9.047000	0.93823	2.396000	0.81511	0.655000	0.94253	CCG		0.652	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		17	69	0	0	0	0.539581	0	17	69				
HTR5A	3361	broad.mit.edu	37	7	154862620	154862620	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr7:154862620C>T	ENST00000287907.2	+	1	587	c.11C>T	c.(10-12)cCt>cTt	p.P4L	HTR5A-AS1_ENST00000543018.1_Intron|HTR5A-AS1_ENST00000395731.2_Intron|HTR5A-AS1_ENST00000493904.1_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	4					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.P4L(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	ATGGATTTACCTGTGAACCTA	0.612																																						ENST00000287907.2																			1	Substitution - Missense(1)	p.P4L(1)	prostate(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(10-12)cCt>cTt		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							115.0	124.0	121.0					7																	154862620		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862620C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.11C>T	7.37:g.154862620C>T	ENSP00000287907:p.Pro4Leu					AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000395731.2_Intron|AC093726.4_ENST00000543018.1_Intron	p.P4L	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	587	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	4					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.11C>T	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921979	0.33908	.	.	ENSG00000157219	ENST00000287907	T	0.70045	-0.45	4.56	2.73	0.32206	.	0.206931	0.25091	N	0.033216	T	0.43433	0.1247	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.38415	-0.9662	10	0.62326	D	0.03	.	8.5981	0.33727	0.1522:0.7673:0.0:0.0804	.	4	P47898	5HT5A_HUMAN	L	4	ENSP00000287907:P4L	ENSP00000287907:P4L	P	+	2	0	HTR5A	154493553	0.001000	0.12720	0.002000	0.10522	0.979000	0.70002	1.373000	0.34272	0.529000	0.28599	0.467000	0.42956	CCT		0.612	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		27	133	0	0	0	0.706142	0	27	133				
PLXNA2	5362	broad.mit.edu	37	1	208272307	208272307	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:208272307G>A	ENST00000367033.3	-	6	2372	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	539					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R539C(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTGTCCCTGCGGGAGCACCTG	0.562																																						ENST00000367033.3																			1	Substitution - Missense(1)	p.R539C(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1615-1617)Cgc>Tgc		plexin A2							48.0	41.0	44.0					1																	208272307		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208272307G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1615C>T	1.37:g.208272307G>A	ENSP00000356000:p.Arg539Cys						p.R539C	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	6	2372	-			539					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.1615C>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961031	0.74016	.	.	ENSG00000076356	ENST00000367033	T	0.19806	2.12	4.42	3.49	0.39957	.	0.205916	0.44688	D	0.000433	T	0.52901	0.1763	M	0.91612	3.225	0.58432	D	0.999993	D	0.89917	1.0	D	0.79108	0.992	T	0.63501	-0.6623	10	0.51188	T	0.08	.	13.9314	0.63998	0.0:0.0:0.8475:0.1525	.	539	O75051	PLXA2_HUMAN	C	539	ENSP00000356000:R539C	ENSP00000356000:R539C	R	-	1	0	PLXNA2	206338930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.754000	0.55189	1.051000	0.40369	0.561000	0.74099	CGC		0.562	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		6	21	0	0	0	0.278610	0	6	21				
MN1	4330	broad.mit.edu	37	22	28194936	28194936	+	Silent	SNP	C	C	T	rs45597040	byFrequency	TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr22:28194936C>T	ENST00000302326.4	-	1	2550	c.1596G>A	c.(1594-1596)caG>caA	p.Q532Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	532	Poly-Gln.				intramembranous ossification (GO:0001957)			p.Q532Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgttgctgctgctgct	0.652			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		1	Substitution - coding silent(1)	p.Q532Q(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1594-1596)caG>caA		meningioma (disrupted in balanced translocation) 1							4.0	5.0	5.0					22																	28194936		1795	3654	5449	SO:0001819	synonymous_variant	4330						binding	g.chr22:28194936C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1596G>A	22.37:g.28194936C>T							p.Q532Q	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2550	-			532			Poly-Gln.		A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.1596G>A	CCDS42998.1																																																																																				0.652	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		3	12	0	0	0	0.115264	0	3	12				
NRAP	4892	broad.mit.edu	37	10	115372082	115372082	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr10:115372082C>A	ENST00000359988.3	-	30	3653	c.3409G>T	c.(3409-3411)Gac>Tac	p.D1137Y	NRAP_ENST00000360478.3_Missense_Mutation_p.D1102Y|NRAP_ENST00000369360.3_Missense_Mutation_p.D1110Y|NRAP_ENST00000369358.4_Missense_Mutation_p.D1145Y	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.D1137Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGTTTGTAGTCCTGATTGCTG	0.542																																						ENST00000369358.4																			1	Substitution - Missense(1)	p.D1137Y(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3433-3435)Gac>Tac		nebulin-related anchoring protein							130.0	115.0	120.0					10																	115372082		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115372082C>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3409G>T	10.37:g.115372082C>A	ENSP00000353078:p.Asp1137Tyr					NRAP_ENST00000369360.3_Missense_Mutation_p.D1110Y|NRAP_ENST00000360478.3_Missense_Mutation_p.D1102Y|NRAP_ENST00000359988.3_Missense_Mutation_p.D1137Y	p.D1145Y			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	30	3677	-		Colorectal(252;0.0233)|Breast(234;0.188)	1137						Missense_Mutation	SNP	ENST00000359988.3	37	c.3433G>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460010	0.84317	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.62	5.62	0.85841	.	0.094604	0.64402	D	0.000001	T	0.71316	0.3325	M	0.86502	2.82	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.75484	0.968;0.986;0.927	T	0.75139	-0.3423	10	0.72032	D	0.01	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	1137;1102;1137	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	Y	1145;1110;1137;1102	ENSP00000358365:D1145Y;ENSP00000358367:D1110Y;ENSP00000353078:D1137Y;ENSP00000353666:D1102Y	ENSP00000353078:D1137Y	D	-	1	0	NRAP	115362072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.005000	0.70716	2.818000	0.97014	0.655000	0.94253	GAC		0.542	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		13	81	1	0	0.000151284	0.435327	0.000162631	13	81				
CLK3	1198	broad.mit.edu	37	15	74917313	74917313	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr15:74917313A>G	ENST00000395066.3	+	6	1509	c.1048A>G	c.(1048-1050)Atc>Gtc	p.I350V	CLK3_ENST00000345005.4_Missense_Mutation_p.I202V|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000352989.5_Missense_Mutation_p.I179V	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.I202V(2)|p.I350V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CCGGCTAGAAATCAACGTGCT	0.542																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			3	Substitution - Missense(3)	p.I202V(2)|p.I350V(1)	prostate(3)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(1048-1050)Atc>Gtc		CDC-like kinase 3							63.0	52.0	56.0					15																	74917313		2197	4296	6493	SO:0001583	missense	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74917313A>G	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1048A>G	15.37:g.74917313A>G	ENSP00000378505:p.Ile350Val					CLK3_ENST00000352989.5_Missense_Mutation_p.I179V|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Missense_Mutation_p.I202V	p.I350V	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			6	1509	+			350			Protein kinase.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	c.1048A>G	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	A	30	5.050189	0.93740	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	T;T	0.20332	2.08;2.08	5.27	5.27	0.74061	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	0.64402	D	0.000001	T	0.21186	0.0510	N	0.17594	0.5	0.80722	D	1	B;P;P;B	0.37083	0.135;0.581;0.504;0.017	B;B;P;B	0.45474	0.272;0.424;0.482;0.043	T	0.07578	-1.0765	10	0.52906	T	0.07	.	15.1805	0.72952	1.0:0.0:0.0:0.0	.	350;55;129;179	P49761;B3KVF3;B3KUU7;G5E959	CLK3_HUMAN;.;.;.	V	202;202;350;179	ENSP00000344112:I202V;ENSP00000323106:I179V	ENSP00000344112:I202V	I	+	1	0	CLK3	72704366	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.311000	0.78958	1.994000	0.58287	0.459000	0.35465	ATC		0.542	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			7	42	0	0	0	0.248553	0	7	42				
CD1B	910	broad.mit.edu	37	1	158299693	158299693	+	Nonsense_Mutation	SNP	G	G	A	rs370440810		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:158299693G>A	ENST00000368168.3	-	3	663	c.556C>T	c.(556-558)Cga>Tga	p.R186*		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	186	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.R186*(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AAGAGATATCGGGGGCAGGTT	0.463																																						ENST00000368168.3																			1	Substitution - Nonsense(1)	p.R186*(1)	prostate(1)	breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(556-558)Cga>Tga		CD1b molecule		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	134.0	124.0	127.0		556	-0.1	0.0	1		127	0,8600		0,0,4300	no	stop-gained	CD1B	NM_001764.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		186/334	158299693	1,13005	2203	4300	6503	SO:0001587	stop_gained	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299693G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.556C>T	1.37:g.158299693G>A	ENSP00000357150:p.Arg186*						p.R186*	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			3	663	-	all_hematologic(112;0.0378)		186			Ig-like.		Q5TDK9|Q5TDL0|Q9UMM2	Nonsense_Mutation	SNP	ENST00000368168.3	37	c.556C>T	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.01|19.01	3.742912|3.742912	0.69418|0.69418	2.27E-4|2.27E-4	0.0|0.0	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	T|.	0.07908|.	3.15|.	4.46|4.46	-0.0677|-0.0677	0.13759|0.13759	.|.	.|1.314320	.|0.05589	.|N	.|0.574413	T|.	0.03651|.	0.0104|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27536|.	-1.0071|.	5|.	0.34782|0.02654	T|T	0.22|1	-0.0048|-0.0048	7.2959|7.2959	0.26393|0.26393	0.0:0.1582:0.3556:0.4862|0.0:0.1582:0.3556:0.4862	.|.	.|.	.|.	.|.	L|X	153|186	ENSP00000395161:P153L|.	ENSP00000395161:P153L|ENSP00000357150:R186X	P|R	-|-	2|1	0|2	CD1B|CD1B	156566317|156566317	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.077000|0.077000	0.17291|0.17291	-0.204000|-0.204000	0.09425|0.09425	-0.083000|-0.083000	0.12618|0.12618	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.463	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		25	135	0	0	0	0.654019	0	25	135				
KIAA0556	23247	broad.mit.edu	37	16	27585275	27585275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr16:27585275G>T	ENST00000261588.4	+	2	80	c.61G>T	c.(61-63)Gag>Tag	p.E21*		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	21						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E21*(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGAGAAAAAGGAGGTAAATGT	0.488																																						ENST00000261588.4																			2	Substitution - Nonsense(2)	p.E21*(2)	prostate(2)	breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(61-63)Gag>Tag		KIAA0556							80.0	70.0	73.0					16																	27585275		2197	4300	6497	SO:0001587	stop_gained	23247							g.chr16:27585275G>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.61G>T	16.37:g.27585275G>T	ENSP00000261588:p.Glu21*						p.E21*	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			2	80	+			21					A7E2C2	Nonsense_Mutation	SNP	ENST00000261588.4	37	c.61G>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059145	0.93846	.	.	ENSG00000047578	ENST00000261588	.	.	.	5.54	5.54	0.83059	.	0.000000	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-3.8663	14.9987	0.71455	0.0:0.0:1.0:0.0	.	.	.	.	X	21	.	ENSP00000261588:E21X	E	+	1	0	KIAA0556	27492776	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.489000	0.60309	2.598000	0.87819	0.650000	0.86243	GAG		0.488	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		11	29	1	0	6.81908e-15	0.457914	7.92487e-15	11	29				
AMER3	205147	broad.mit.edu	37	2	131520858	131520858	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr2:131520858C>T	ENST00000423981.1	+	2	1323	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	AMER3_ENST00000321420.4_Missense_Mutation_p.P405S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	405					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.P405S(1)									AGCTGAGAGCCCAGGCACTCC	0.632																																						ENST00000423981.1																			1	Substitution - Missense(1)	p.P405S(1)	prostate(1)								c.(1213-1215)Cca>Tca		APC membrane recruitment protein 3							68.0	56.0	60.0					2																	131520858		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520858C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1213C>T	2.37:g.131520858C>T	ENSP00000392700:p.Pro405Ser					AMER3_ENST00000321420.4_Missense_Mutation_p.P405S	p.P405S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	1323	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1213C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194546	0.38806	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.16324	2.35;2.35	5.2	5.2	0.72013	.	0.084067	0.48286	D	0.000187	T	0.30262	0.0759	L	0.32530	0.975	0.33194	D	0.551269	D	0.89917	1.0	D	0.83275	0.996	T	0.18745	-1.0327	10	0.37606	T	0.19	.	14.6087	0.68501	0.0:1.0:0.0:0.0	.	405	Q8N944	F123C_HUMAN	S	405	ENSP00000314914:P405S;ENSP00000392700:P405S	ENSP00000314914:P405S	P	+	1	0	FAM123C	131237328	0.276000	0.24211	0.968000	0.41197	0.026000	0.11368	0.688000	0.25422	2.602000	0.87976	0.561000	0.74099	CCA		0.632	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		18	55	0	0	0	0.557998	0	18	55				
ARHGAP36	158763	broad.mit.edu	37	X	130220378	130220378	+	Missense_Mutation	SNP	C	C	T	rs373442691		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chrX:130220378C>T	ENST00000276211.5	+	10	1702	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R317C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R441C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	453					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R453C(2)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTTTATCAGACGCAGGAACTT	0.473																																						ENST00000276211.5																			2	Substitution - Missense(2)	p.R453C(2)	prostate(2)	breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(1357-1359)Cgc>Tgc		Rho GTPase activating protein 36		C	CYS/ARG	0,3835		0,0,0,1632,571	101.0	96.0	98.0		1357	3.8	1.0	X		98	1,6727		0,0,1,2428,1871	no	missense	ARHGAP36	NM_144967.3	180	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	probably-damaging	453/548	130220378	1,10562	2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220378C>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1357C>T	X.37:g.130220378C>T	ENSP00000276211:p.Arg453Cys					ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R317C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R441C	p.R453C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			10	1702	+			453					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1357C>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025390	0.54683	0.0	1.49E-4	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.16073	2.38;2.37;2.4;2.56	4.69	3.83	0.44106	.	0.000000	0.45867	D	0.000334	T	0.19167	0.0460	N	0.08118	0	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.99	T	0.09952	-1.0651	10	0.72032	D	0.01	.	7.7458	0.28869	0.0:0.8835:0.0:0.1165	.	422;441;453	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	C	453;441;422;317	ENSP00000276211:R453C;ENSP00000359960:R441C;ENSP00000408515:R422C;ENSP00000359959:R317C	ENSP00000276211:R453C	R	+	1	0	ARHGAP36	130048059	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.623000	0.37008	1.088000	0.41272	0.600000	0.82982	CGC		0.473	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		22	30	0	0	0	0.624587	0	22	30				
CADM2	253559	broad.mit.edu	37	3	86114827	86114827	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr3:86114827T>G	ENST00000407528.2	+	9	1198	c.1136T>G	c.(1135-1137)tTt>tGt	p.F379C	CADM2_ENST00000383699.3_Missense_Mutation_p.F348C|CADM2_ENST00000405615.2_Missense_Mutation_p.F381C	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	379					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.F381C(2)|p.F348C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTAGTTGTATTTGTCACGCTG	0.423																																						ENST00000383699.3																			3	Substitution - Missense(3)	p.F381C(2)|p.F348C(1)	prostate(3)	endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(1042-1044)tTt>tGt		cell adhesion molecule 2							190.0	163.0	172.0					3																	86114827		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86114827T>G	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1136T>G	3.37:g.86114827T>G	ENSP00000384575:p.Phe379Cys					CADM2_ENST00000407528.2_Missense_Mutation_p.F379C|CADM2_ENST00000405615.2_Missense_Mutation_p.F381C	p.F348C	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	9	1670	+		Lung NSC(201;0.0148)	379			Thr-rich.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.1043T>G	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623224	0.87460	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.72835	-0.48;-0.68;-0.69	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.83064	0.5173	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.996	T	0.81328	-0.0982	10	0.27785	T	0.31	.	16.0708	0.80928	0.0:0.0:0.0:1.0	.	381;348;379	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	C	348;379;381	ENSP00000373200:F348C;ENSP00000384575:F379C;ENSP00000384193:F381C	ENSP00000373200:F348C	F	+	2	0	CADM2	86197517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.197000	0.70478	0.528000	0.53228	TTT		0.423	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		4	48	0	0	0	0.150653	0	4	48				
USP16	10600	broad.mit.edu	37	21	30411465	30411465	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr21:30411465A>G	ENST00000334352.4	+	9	1082	c.851A>G	c.(850-852)cAg>cGg	p.Q284R	USP16_ENST00000399976.2_Missense_Mutation_p.Q284R|USP16_ENST00000399975.3_Missense_Mutation_p.Q283R|USP16_ENST00000535828.1_Intron	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16									p.Q284R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						CTCTTTTCTCAGGTCTGTAAA	0.378																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4																			1	Substitution - Missense(1)	p.Q284R(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(850-852)cAg>cGg		ubiquitin specific peptidase 16							63.0	66.0	65.0					21																	30411465		2203	4300	6503	SO:0001583	missense	0				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30411465A>G	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.851A>G	21.37:g.30411465A>G	ENSP00000334808:p.Gln284Arg					USP16_ENST00000399975.3_Missense_Mutation_p.Q283R|USP16_ENST00000399976.2_Missense_Mutation_p.Q284R|USP16_ENST00000535828.1_Intron	p.Q284R	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			9	1082	+			284						Missense_Mutation	SNP	ENST00000334352.4	37	c.851A>G	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.487335	0.84854	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352	T;T;T	0.30448	1.53;1.53;1.53	5.82	4.6	0.57074	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	N	0.17674	0.51	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.31308	-0.9948	10	0.66056	D	0.02	.	11.9104	0.52735	0.8697:0.0:0.0:0.1303	.	269;283;284	Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;UBP16_HUMAN	R	283;284;284	ENSP00000382857:Q283R;ENSP00000382858:Q284R;ENSP00000334808:Q284R	ENSP00000334808:Q284R	Q	+	2	0	USP16	29333336	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.745000	0.68672	2.227000	0.72691	0.454000	0.30748	CAG		0.378	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			5	56	0	0	0	0.184627	0	5	56				
ZNF257	113835	broad.mit.edu	37	19	22271354	22271354	+	Missense_Mutation	SNP	C	C	T	rs17853619		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr19:22271354C>T	ENST00000594947.1	+	4	946	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R268W(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCCTTTAACCGGTCTTCACA	0.388																																						ENST00000594947.1																			1	Substitution - Missense(1)	p.R268W(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(802-804)Cgg>Tgg		zinc finger protein 257							41.0	44.0	43.0					19																	22271354		2078	4253	6331	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271354C>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.802C>T	19.37:g.22271354C>T	ENSP00000470209:p.Arg268Trp						p.R268W	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN			4	946	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	268					B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.802C>T	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	0.908	-0.719915	0.03182	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29491	0.0735	L	0.59436	1.845	0.09310	N	1	B	0.24618	0.107	B	0.04013	0.001	T	0.21449	-1.0245	8	0.25106	T	0.35	.	3.081	0.06262	0.2075:0.1824:0.0:0.6101	.	268	Q9Y2Q1	ZN257_HUMAN	W	268;240	.	ENSP00000380312:R240W	R	+	1	2	ZNF257	22063194	0.001000	0.12720	0.002000	0.10522	0.195000	0.23768	0.878000	0.28126	-0.628000	0.05582	-0.657000	0.03884	CGG		0.388	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			3	33	0	0	0	0.115264	0	3	33				
BCRP7	100133163	broad.mit.edu	37	22	18846006	18846006	+	3'UTR	SNP	A	A	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr22:18846006A>G	ENST00000412938.1	+	0	3364																											GCGCAGGCCGACACTCACTGA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846006A>G																												ENST00000412938.1:c.*3361A>G	22.37:g.18846006A>G														0	3364	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	55	0	0	0	0.115264	0	3	55				
PCLO	27445	broad.mit.edu	37	7	82763829	82763829	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr7:82763829C>G	ENST00000333891.9	-	3	3374	c.3037G>C	c.(3037-3039)Gaa>Caa	p.E1013Q	PCLO_ENST00000423517.2_Missense_Mutation_p.E1013Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E1013Q(2)|p.E959Q(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAGCTTGTTCAGCTTTGGGC	0.433																																						ENST00000423517.2																			3	Substitution - Missense(3)	p.E1013Q(2)|p.E959Q(1)	prostate(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3037-3039)Gaa>Caa		piccolo presynaptic cytomatrix protein							84.0	82.0	83.0					7																	82763829		1836	4085	5921	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82763829C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3037G>C	7.37:g.82763829C>G	ENSP00000334319:p.Glu1013Gln					PCLO_ENST00000333891.8_Missense_Mutation_p.E1013Q	p.E1013Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	3374	-			959						Missense_Mutation	SNP	ENST00000333891.9	37	c.3037G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	8.151	0.787480	0.16258	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.76968	-1.06;-1.06	6.07	6.07	0.98685	.	.	.	.	.	T	0.73148	0.3550	L	0.51422	1.61	0.20764	N	0.999851	B;B	0.18610	0.029;0.029	B;B	0.19391	0.025;0.025	T	0.64622	-0.6364	9	0.87932	D	0	.	10.3528	0.43945	0.0:0.7923:0.1358:0.0719	.	1013;1013	Q9Y6V0-5;Q9Y6V0-6	.;.	Q	959;1013;1013	ENSP00000334319:E1013Q;ENSP00000388393:E1013Q	ENSP00000334319:E1013Q	E	-	1	0	PCLO	82601765	0.178000	0.23122	0.760000	0.31359	0.941000	0.58515	3.001000	0.49488	2.884000	0.98904	0.655000	0.94253	GAA		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	33	0	0	0	0.387290	0	12	33				
GSDMD	79792	broad.mit.edu	37	8	144643541	144643541	+	Splice_Site	SNP	C	C	T	rs201583128		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr8:144643541C>T	ENST00000526406.1	+	9	1567	c.684C>T	c.(682-684)gaC>gaT	p.D228D	GSDMD_ENST00000533063.1_Splice_Site_p.D276D|GSDMD_ENST00000262580.4_Splice_Site_p.D228D	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	228					cellular response to extracellular stimulus (GO:0031668)			p.D228D(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GGCTGCCAGACGTCCTTCTCT	0.637																																						ENST00000526406.1																			1	Substitution - coding silent(1)	p.D228D(1)	prostate(1)	breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.e9-1		gasdermin D		C	,	0,4388		0,0,2194	49.0	48.0	48.0		684,684	-7.7	0.0	8		48	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous-near-splice,coding-synonymous-near-splice	GSDMD	NM_001166237.1,NM_024736.6	,	0,2,6489	TT,TC,CC		0.0233,0.0,0.0154	,	228/485,228/485	144643541	2,12980	2194	4297	6491	SO:0001630	splice_region_variant	79792							g.chr8:144643541C>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.683-1C>T	8.37:g.144643541C>T						GSDMD_ENST00000262580.4_Splice_Site_p.D228_splice|GSDMD_ENST00000533063.1_Splice_Site_p.D276_splice	p.D228_splice	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			9	1567	+			228					D3DWJ9|Q96Q98	Splice_Site	SNP	ENST00000526406.1	37	c.682_splice	CCDS34956.1																																																																																				0.637	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736	Silent	3	14	0	0	0	0.150653	0	3	14				
ATP10B	23120	broad.mit.edu	37	5	160033839	160033839	+	Silent	SNP	C	C	A			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr5:160033839C>A	ENST00000327245.5	-	19	3939	c.3093G>T	c.(3091-3093)acG>acT	p.T1031T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1031					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T1031T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGGAGTGGCGTGGAGCGGC	0.512																																						ENST00000327245.5																			1	Substitution - coding silent(1)	p.T1031T(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(3091-3093)acG>acT		ATPase, class V, type 10B							93.0	97.0	95.0					5																	160033839		2099	4222	6321	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160033839C>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3093G>T	5.37:g.160033839C>A							p.T1031T	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		19	3939	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1031					Q9H725	Silent	SNP	ENST00000327245.5	37	c.3093G>T	CCDS43394.1																																																																																				0.512	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		27	99	1	0	8.24728e-16	0.681144	9.98355e-16	27	99				
ZNF689	115509	broad.mit.edu	37	16	30620889	30620889	+	Silent	SNP	A	A	C			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr16:30620889A>C	ENST00000287461.3	-	2	613	c.276T>G	c.(274-276)gcT>gcG	p.A92A	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	92	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A92A(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GCGGATCTAGAGCAGCCGGTT	0.547																																						ENST00000287461.3																			1	Substitution - coding silent(1)	p.A92A(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(274-276)gcT>gcG		zinc finger protein 689							110.0	105.0	107.0					16																	30620889		2197	4300	6497	SO:0001819	synonymous_variant	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30620889A>C	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.276T>G	16.37:g.30620889A>C						ZNF689_ENST00000566673.1_5'UTR	p.A92A	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		2	613	-			92			KRAB.		Q658J5	Silent	SNP	ENST00000287461.3	37	c.276T>G	CCDS10686.1																																																																																				0.547	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		20	64	0	0	0	0.575678	0	20	64				
SPAG17	200162	broad.mit.edu	37	1	118554950	118554950	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr1:118554950C>G	ENST00000336338.5	-	30	4398	c.4333G>C	c.(4333-4335)Gat>Cat	p.D1445H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1445						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.D1445H(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CGAGTACCATCTTTCCTTTCA	0.393																																						ENST00000336338.5																			1	Substitution - Missense(1)	p.D1445H(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4333-4335)Gat>Cat		sperm associated antigen 17							193.0	163.0	174.0					1																	118554950		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118554950C>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4333G>C	1.37:g.118554950C>G	ENSP00000337804:p.Asp1445His						p.D1445H	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	30	4398	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1445					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4333G>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829523	0.50845	.	.	ENSG00000155761	ENST00000336338	T	0.34667	1.35	4.72	4.72	0.59763	.	0.143197	0.64402	D	0.000010	T	0.53012	0.1770	M	0.71581	2.175	0.43719	D	0.996198	D	0.89917	1.0	D	0.91635	0.999	T	0.57705	-0.7765	10	0.72032	D	0.01	.	16.6166	0.84917	0.0:1.0:0.0:0.0	.	1445	Q6Q759	SPG17_HUMAN	H	1445	ENSP00000337804:D1445H	ENSP00000337804:D1445H	D	-	1	0	SPAG17	118356473	0.999000	0.42202	0.998000	0.56505	0.338000	0.28826	5.205000	0.65186	2.460000	0.83146	0.557000	0.71058	GAT		0.393	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		14	50	0	0	0	0.457914	0	14	50				
SCML4	256380	broad.mit.edu	37	6	108042009	108042009	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr6:108042009G>A	ENST00000369020.3	-	6	1116	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	SCML4_ENST00000369022.2_Missense_Mutation_p.R233C|SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369021.3_Missense_Mutation_p.R262C|SCML4_ENST00000369025.2_Missense_Mutation_p.R49C	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	291	SAM.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R262C(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGGCTAGTGCGGGGACCACCA	0.637																																						ENST00000369022.2																			1	Substitution - Missense(1)	p.R262C(1)	prostate(1)	endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25						c.(697-699)Cgc>Tgc		sex comb on midleg-like 4 (Drosophila)							48.0	55.0	52.0					6																	108042009		2203	4300	6503	SO:0001583	missense	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108042009G>A		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.871C>T	6.37:g.108042009G>A	ENSP00000358016:p.Arg291Cys					SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369021.3_Missense_Mutation_p.R262C|SCML4_ENST00000369025.2_Missense_Mutation_p.R49C|SCML4_ENST00000369020.3_Missense_Mutation_p.R291C	p.R233C			Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	5	906	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	291					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	c.697C>T	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934789	0.34189	.	.	ENSG00000146285	ENST00000369022;ENST00000369025;ENST00000369020;ENST00000369021	T;T;T	0.53640	0.84;0.83;0.61	5.19	2.47	0.30058	.	0.622280	0.17209	N	0.182794	T	0.50034	0.1592	M	0.70275	2.135	0.09310	N	0.999995	B;D;D	0.89917	0.002;0.998;1.0	B;P;D	0.69824	0.001;0.719;0.966	T	0.42682	-0.9437	10	0.59425	D	0.04	.	10.1039	0.42521	0.2135:0.0:0.7865:0.0	.	291;291;262	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	C	233;49;291;262	ENSP00000358018:R233C;ENSP00000358016:R291C;ENSP00000358017:R262C	ENSP00000358016:R291C	R	-	1	0	SCML4	108148702	0.980000	0.34600	0.002000	0.10522	0.152000	0.21847	2.222000	0.42926	0.356000	0.24157	0.650000	0.86243	CGC		0.637	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		4	87	0	0	0	0.150653	0	4	87				
PCSK5	5125	broad.mit.edu	37	9	78790082	78790082	+	Intron	SNP	G	G	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr9:78790082G>T	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Missense_Mutation_p.R646M|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTAAAAAGAGGCAGCTCATG	0.483																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1936-1938)aGg>aTg		proprotein convertase subtilisin/kexin type 5							68.0	66.0	67.0					9																	78790082		2203	4300	6503	SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790082G>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+37G>T	9.37:g.78790082G>T						PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron	p.R646M			Q92824	PCSK5_HUMAN			14	2449	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1937G>T	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446981	0.25987	.	.	ENSG00000099139	ENST00000376767;ENST00000396108	T	0.70045	-0.45	3.82	0.639	0.17747	.	.	.	.	.	T	0.45558	0.1348	.	.	.	0.09310	N	1	B	0.22683	0.073	B	0.15484	0.013	T	0.29488	-1.0010	8	0.39692	T	0.17	.	1.986	0.03436	0.1088:0.1655:0.4224:0.3033	.	646	B1AMG5	.	M	646	ENSP00000365958:R646M	ENSP00000365958:R646M	R	+	2	0	PCSK5	77979902	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.249000	0.08842	0.397000	0.25310	0.650000	0.86243	AGG		0.483	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	46	1	0	7.48243e-07	0.335167	8.60479e-07	7	46				
PRRX1	5396	broad.mit.edu	37	1	170688957	170688957	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr1:170688957G>A	ENST00000239461.6	+	2	645	c.332G>A	c.(331-333)cGt>cAt	p.R111H	PRRX1_ENST00000367760.3_Missense_Mutation_p.R111H|PRRX1_ENST00000497230.2_Missense_Mutation_p.R111H	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	111					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.R111H(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTTTGGAGCGTGTCTTTGAG	0.512																																						ENST00000239461.6																			1	Substitution - Missense(1)	p.R111H(1)	prostate(1)	large_intestine(2)|ovary(1)	3						c.(331-333)cGt>cAt		paired related homeobox 1							114.0	101.0	105.0					1																	170688957		2203	4300	6503	SO:0001583	missense	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170688957G>A	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.332G>A	1.37:g.170688957G>A	ENSP00000239461:p.Arg111His					PRRX1_ENST00000367760.3_Missense_Mutation_p.R111H|PRRX1_ENST00000497230.2_Missense_Mutation_p.R111H	p.R111H	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN			2	645	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		111					B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	c.332G>A	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091206	0.94149	.	.	ENSG00000116132	ENST00000553786;ENST00000367760;ENST00000239461;ENST00000497230	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.32	5.32	0.75619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.61275	0.886;0.872	D	0.98143	1.0437	10	0.87932	D	0	.	17.5667	0.87922	0.0:0.0:1.0:0.0	.	111;111	P54821;P54821-2	PRRX1_HUMAN;.	H	64;111;111;111	ENSP00000451943:R64H;ENSP00000356734:R111H;ENSP00000239461:R111H;ENSP00000450762:R111H	ENSP00000239461:R111H	R	+	2	0	PRRX1	168955581	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	4.923000	0.63412	2.463000	0.83235	0.655000	0.94253	CGT		0.512	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		20	61	0	0	0	0.592651	0	20	61				
DNM1P47	100216544	broad.mit.edu	37	15	102305092	102305092	+	RNA	SNP	A	A	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr15:102305092A>G	ENST00000561463.1	+	0	13138									DNM1 pseudogene 47																		CATGAACACCATCAGCACAGC	0.632																																						ENST00000561463.1																			0																																																			0							g.chr15:102305092A>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305092A>G														0	13138	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	26	0	0	0	0.150653	0	4	26				
FAM174A	345757	broad.mit.edu	37	5	99871330	99871330	+	Silent	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr5:99871330C>T	ENST00000312637.4	+	1	322	c.96C>T	c.(94-96)gtC>gtT	p.V32V	CTD-2001C12.1_ENST00000499025.1_lincRNA	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	32						integral component of membrane (GO:0016021)		p.V32V(1)		breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCCTGGCAGTCCTGCTGCAGG	0.672																																						ENST00000312637.4																			1	Substitution - coding silent(1)	p.V32V(1)	prostate(1)	breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(94-96)gtC>gtT		family with sequence similarity 174, member A							29.0	35.0	33.0					5																	99871330		2174	4259	6433	SO:0001819	synonymous_variant	345757					integral to membrane		g.chr5:99871330C>T	AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"""transmembrane protein 157"""	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.96C>T	5.37:g.99871330C>T							p.V32V	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN			1	322	+			32					A8K0H4	Silent	SNP	ENST00000312637.4	37	c.96C>T	CCDS4090.1																																																																																				0.672	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250631.2	NM_198507		7	82	0	0	0	0.335167	0	7	82				
PCDHA6	56142	broad.mit.edu	37	5	140209661	140209661	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr5:140209661C>T	ENST00000529310.1	+	1	2099	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	662	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	calcium ion binding (GO:0005509)	p.T662M(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACAGCGACGGCCACGGTT	0.697																																						ENST00000529310.1																			2	Substitution - Missense(2)	p.T662M(2)	prostate(2)	NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1984-1986)aCg>aTg									37.0	44.0	42.0					5																	140209661		2203	4299	6502	SO:0001583	missense	0							g.chr5:140209661C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1985C>T	5.37:g.140209661C>T	ENSP00000433378:p.Thr662Met					PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.T662M	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2099	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1985C>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619553	0.28801	.	.	ENSG00000081842	ENST00000529310	T	0.57107	0.42	3.98	3.98	0.46160	Cadherin (4);Cadherin-like (1);	0.000000	0.37715	U	0.001965	T	0.76018	0.3929	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.69824	0.852;0.966	T	0.80970	-0.1144	10	0.66056	D	0.02	.	10.3652	0.44019	0.0:0.908:0.0:0.092	.	662;662	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	M	662	ENSP00000433378:T662M	ENSP00000433378:T662M	T	+	2	0	PCDHA6	140189845	0.994000	0.37717	0.821000	0.32701	0.008000	0.06430	3.293000	0.51779	2.216000	0.71823	0.306000	0.20318	ACG		0.697	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		23	69	0	0	0	0.624587	0	23	69				
WASH4P	374677	broad.mit.edu	37	16	66940	66940	+	Silent	SNP	G	G	A	rs200079147		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr16:66940G>A	ENST00000326592.9	-	5	1354	c.696C>T	c.(694-696)agC>agT	p.S232S	DDX11L10_ENST00000513886.1_RNA|Z84812.4_ENST00000568710.1_RNA			A8MWX3	WASH4_HUMAN	WAS protein family homolog 4 pseudogene	232					Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.S232S(1)									GCTCTCTCTTGCTGATGGACA	0.597																																						ENST00000326592.9																			1	Substitution - coding silent(1)	p.S232S(1)	kidney(1)								c.(694-696)agC>agT																																						SO:0001819	synonymous_variant	0							g.chr16:66940G>A			16p13.3	2014-08-28	2008-01-16	2008-01-16	ENSG00000234769	ENSG00000234769		"""WAS protein homologs"""	14126	other	unknown			"""family with sequence similarity 39, member C pseudogene"""	FAM39CP		9054936, 11701968, 18159949	Standard	NG_003159		Approved	FLJ31670		A8MWX3	OTTHUMG00000059914	ENST00000326592.9:c.696C>T	16.37:g.66940G>A							p.S232S							5	1354	-									Silent	SNP	ENST00000326592.9	37	c.696C>T																																																																																					0.597	WASH4P-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000133175.2	NG_003159		5	34	0	0	0	0.248553	0	5	34				
KNDC1	85442	broad.mit.edu	37	10	135012126	135012126	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr10:135012126G>T	ENST00000304613.3	+	14	2135	c.2114G>T	c.(2113-2115)gGc>gTc	p.G705V	KNDC1_ENST00000368572.2_Missense_Mutation_p.G705V|KNDC1_ENST00000368571.2_Missense_Mutation_p.G640V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	705					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.G705V(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGAGGGGCGGCCAGAGGGAG	0.721																																						ENST00000304613.3																			2	Substitution - Missense(2)	p.G705V(2)	prostate(2)	NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(2113-2115)gGc>gTc		kinase non-catalytic C-lobe domain (KIND) containing 1							9.0	12.0	11.0					10																	135012126		2165	4255	6420	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135012126G>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2114G>T	10.37:g.135012126G>T	ENSP00000304437:p.Gly705Val					KNDC1_ENST00000368571.2_Missense_Mutation_p.G640V|KNDC1_ENST00000368572.2_Missense_Mutation_p.G705V	p.G705V			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	14	2135	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	705					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.2114G>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	7.258	0.604609	0.14002	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.21191	2.52;2.52;2.02	3.29	-1.61	0.08399	.	2.121460	0.01980	N	0.044753	T	0.14570	0.0352	L	0.32530	0.975	0.09310	N	1	B;B;B	0.26809	0.16;0.069;0.005	B;B;B	0.25405	0.06;0.023;0.007	T	0.11470	-1.0586	10	0.40728	T	0.16	-3.6176	0.7351	0.00964	0.2417:0.1843:0.3859:0.188	.	705;640;705	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	V	705;705;640	ENSP00000304437:G705V;ENSP00000357561:G705V;ENSP00000357560:G640V	ENSP00000304437:G705V	G	+	2	0	KNDC1	134862116	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.318000	0.19504	-0.728000	0.04882	0.306000	0.20318	GGC		0.721	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		3	20	1	0	1.23904e-05	0.184627	1.39014e-05	3	20				
SDHA	6389	broad.mit.edu	37	5	228381	228381	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr5:228381A>T	ENST00000264932.6	+	6	818	c.703A>T	c.(703-705)Atc>Ttc	p.I235F	SDHA_ENST00000504309.1_Missense_Mutation_p.I235F|SDHA_ENST00000510361.1_Missense_Mutation_p.I187F	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	235					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCGTGGTGTCATCGCACTGTG	0.428									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(703-705)Atc>Ttc		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						99.0	91.0	94.0					5																	228381		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228381A>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.703A>T	5.37:g.228381A>T	ENSP00000264932:p.Ile235Phe					SDHA_ENST00000504309.1_Missense_Mutation_p.I235F|SDHA_ENST00000510361.1_Missense_Mutation_p.I187F	p.I235F	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	818	+			235					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.703A>T	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	a	19.19	3.779259	0.70107	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.70869	-0.52;-0.52;-0.52	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.136916	0.47455	U	0.000240	D	0.82774	0.5110	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.69078	0.98;0.993;0.997;0.997;0.997	P;D;P;D;D	0.63703	0.883;0.917;0.88;0.917;0.917	D	0.85499	0.1190	10	0.87932	D	0	.	13.4155	0.60966	1.0:0.0:0.0:0.0	.	187;235;235;235;241	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	F	235;235;187	ENSP00000264932:I235F;ENSP00000426514:I235F;ENSP00000427703:I187F	ENSP00000264932:I235F	I	+	1	0	SDHA	281381	1.000000	0.71417	0.042000	0.18584	0.341000	0.28922	8.895000	0.92512	2.127000	0.65507	0.524000	0.50904	ATC		0.428	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		5	53	0	0	0	0.184627	0	5	53				
ST5	6764	broad.mit.edu	37	11	8729383	8729383	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr11:8729383G>C	ENST00000534127.1	-	15	2756	c.2371C>G	c.(2371-2373)Cgg>Ggg	p.R791G	ST5_ENST00000526757.1_Missense_Mutation_p.R371G|ST5_ENST00000530438.1_Missense_Mutation_p.R371G|ST5_ENST00000357665.1_Missense_Mutation_p.R791G|ST5_ENST00000534278.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R791G|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526099.1_Missense_Mutation_p.R304G|ST5_ENST00000530991.1_Missense_Mutation_p.R263G	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	791	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R791R(1)|p.R791G(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCTGGCAACCGGGGCCCTTTC	0.577																																						ENST00000534127.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R791R(1)|p.R791G(1)	large_intestine(1)|prostate(1)	NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2371-2373)Cgg>Ggg		suppression of tumorigenicity 5							48.0	43.0	45.0					11																	8729383		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8729383G>C	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2371C>G	11.37:g.8729383G>C	ENSP00000433528:p.Arg791Gly					ST5_ENST00000526757.1_Missense_Mutation_p.R371G|ST5_ENST00000526099.1_Missense_Mutation_p.R304G|ST5_ENST00000357665.1_Missense_Mutation_p.R791G|ST5_ENST00000313726.6_Missense_Mutation_p.R791G|ST5_ENST00000534278.1_Intron|ST5_ENST00000530438.1_Missense_Mutation_p.R371G|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.R263G	p.R791G	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	15	2756	-			791			DENN.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.2371C>G	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291927	0.59976	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020	T;T;T;T;T;T;T;T	0.25579	2.81;3.12;3.12;2.8;3.12;2.79;2.81;1.79	4.35	4.35	0.52113	DENN (2);	0.000000	0.64402	D	0.000001	T	0.44871	0.1314	M	0.90595	3.13	0.80722	D	1	B;B;B	0.24618	0.016;0.107;0.015	B;B;B	0.34301	0.013;0.179;0.127	T	0.56637	-0.7946	10	0.87932	D	0	-3.4894	17.057	0.86536	0.0:0.0:1.0:0.0	.	304;371;791	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	G	371;791;791;263;791;304;371;263	ENSP00000435097:R371G;ENSP00000433528:R791G;ENSP00000319678:R791G;ENSP00000432887:R263G;ENSP00000350294:R791G;ENSP00000436808:R304G;ENSP00000436802:R371G;ENSP00000433588:R263G	ENSP00000319678:R791G	R	-	1	2	ST5	8685959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.218000	0.95166	2.280000	0.76307	0.555000	0.69702	CGG		0.577	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		3	20	0	0	0	0.115264	0	3	20				
KIAA0556	23247	broad.mit.edu	37	16	27585275	27585275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr16:27585275G>T	ENST00000261588.4	+	2	80	c.61G>T	c.(61-63)Gag>Tag	p.E21*		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	21						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E21*(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGAGAAAAAGGAGGTAAATGT	0.488																																						ENST00000261588.4																			2	Substitution - Nonsense(2)	p.E21*(2)	prostate(2)	breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(61-63)Gag>Tag		KIAA0556							80.0	70.0	73.0					16																	27585275		2197	4300	6497	SO:0001587	stop_gained	23247							g.chr16:27585275G>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.61G>T	16.37:g.27585275G>T	ENSP00000261588:p.Glu21*						p.E21*	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			2	80	+			21					A7E2C2	Nonsense_Mutation	SNP	ENST00000261588.4	37	c.61G>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059145	0.93846	.	.	ENSG00000047578	ENST00000261588	.	.	.	5.54	5.54	0.83059	.	0.000000	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-3.8663	14.9987	0.71455	0.0:0.0:1.0:0.0	.	.	.	.	X	21	.	ENSP00000261588:E21X	E	+	1	0	KIAA0556	27492776	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.489000	0.60309	2.598000	0.87819	0.650000	0.86243	GAG		0.488	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		11	29	1	0	6.81908e-15	0.457914	8.04301e-15	11	29				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			6	156	0	0	0	0.217242	0	6	156				
USP16	10600	broad.mit.edu	37	21	30411465	30411465	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr21:30411465A>G	ENST00000334352.4	+	9	1082	c.851A>G	c.(850-852)cAg>cGg	p.Q284R	USP16_ENST00000399976.2_Missense_Mutation_p.Q284R|USP16_ENST00000399975.3_Missense_Mutation_p.Q283R|USP16_ENST00000535828.1_Intron	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16									p.Q284R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						CTCTTTTCTCAGGTCTGTAAA	0.378																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4																			1	Substitution - Missense(1)	p.Q284R(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(850-852)cAg>cGg		ubiquitin specific peptidase 16							63.0	66.0	65.0					21																	30411465		2203	4300	6503	SO:0001583	missense	0				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30411465A>G	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.851A>G	21.37:g.30411465A>G	ENSP00000334808:p.Gln284Arg					USP16_ENST00000399975.3_Missense_Mutation_p.Q283R|USP16_ENST00000399976.2_Missense_Mutation_p.Q284R|USP16_ENST00000535828.1_Intron	p.Q284R	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			9	1082	+			284						Missense_Mutation	SNP	ENST00000334352.4	37	c.851A>G	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.487335	0.84854	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352	T;T;T	0.30448	1.53;1.53;1.53	5.82	4.6	0.57074	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	N	0.17674	0.51	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.31308	-0.9948	10	0.66056	D	0.02	.	11.9104	0.52735	0.8697:0.0:0.0:0.1303	.	269;283;284	Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;UBP16_HUMAN	R	283;284;284	ENSP00000382857:Q283R;ENSP00000382858:Q284R;ENSP00000334808:Q284R	ENSP00000334808:Q284R	Q	+	2	0	USP16	29333336	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.745000	0.68672	2.227000	0.72691	0.454000	0.30748	CAG		0.378	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			5	56	0	0	0	0.184627	0	5	56				
RASGRF1	5923	broad.mit.edu	37	15	79382656	79382656	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr15:79382656G>A	ENST00000419573.3	-	1	459	c.185C>T	c.(184-186)cCc>cTc	p.P62L	RASGRF1_ENST00000558480.2_Missense_Mutation_p.P62L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	62	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P62L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGCCCCGAGGGCCGCGAGCT	0.642																																						ENST00000419573.3																			1	Substitution - Missense(1)	p.P62L(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(184-186)cCc>cTc		Ras protein-specific guanine nucleotide-releasing factor 1							64.0	53.0	56.0					15																	79382656		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79382656G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.185C>T	15.37:g.79382656G>A	ENSP00000405963:p.Pro62Leu					RASGRF1_ENST00000558480.2_Missense_Mutation_p.P62L	p.P62L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			1	459	-			62			PH 1.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.185C>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056330	0.76074	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.15017	2.46	3.69	3.69	0.42338	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.171734	0.37669	N	0.002000	T	0.43942	0.1270	M	0.86343	2.81	0.80722	D	1	D;D;D	0.59767	0.986;0.975;0.968	D;D;P	0.65573	0.917;0.936;0.818	T	0.54118	-0.8341	10	0.87932	D	0	.	12.9679	0.58494	0.0:0.0:1.0:0.0	.	62;62;62	Q8IUU5;Q13972;F8VPA5	.;RGRF1_HUMAN;.	L	62	ENSP00000405963:P62L	ENSP00000378224:P62L	P	-	2	0	RASGRF1	77169711	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.549000	0.90672	1.899000	0.54978	0.313000	0.20887	CCC		0.642	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		16	47	0	0	0	0.479597	0	16	47				
TRIB2	28951	broad.mit.edu	37	2	12863619	12863619	+	Silent	SNP	C	C	T	rs542940298		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr2:12863619C>T	ENST00000405331.3	+	2	574	c.504C>T	c.(502-504)gaC>gaT	p.D168D	TRIB2_ENST00000155926.4_Silent_p.D168D|TRIB2_ENST00000381465.2_Silent_p.D32D					tribbles pseudokinase 2									p.D168D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTGCCATGACGGGGGGCTGG	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18087	0.0		0.0	False		,,,				2504	0.0					ENST00000155926.4																			1	Substitution - coding silent(1)	p.D168D(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(502-504)gaC>gaT		tribbles pseudokinase 2							54.0	57.0	56.0					2																	12863619		2203	4300	6503	SO:0001819	synonymous_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12863619C>T	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.504C>T	2.37:g.12863619C>T						TRIB2_ENST00000381465.2_Silent_p.D32D|TRIB2_ENST00000405331.3_Silent_p.D168D	p.D168D	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN			2	1923	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		168			Protein kinase.			Silent	SNP	ENST00000405331.3	37	c.504C>T																																																																																					0.577	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643		15	76	0	0	0	0.479597	0	15	76				
TUBB8P7	197331	broad.mit.edu	37	16	90161602	90161602	+	RNA	SNP	T	T	C	rs368455696		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr16:90161602T>C	ENST00000564451.1	+	0	955				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		GCGGAGCTGATGGAGTCAGTG	0.612																																						ENST00000564451.1																			0																																																			0							g.chr16:90161602T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161602T>C						TUBB8P7_ENST00000567960.1_RNA								0	955	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.612	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	41	0	0	0	0.150653	0	3	41				
THEG	51298	broad.mit.edu	37	19	375680	375680	+	Silent	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr19:375680C>T	ENST00000342640.4	-	1	333	c.291G>A	c.(289-291)gaG>gaA	p.E97E	THEG_ENST00000346878.2_Silent_p.E97E	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	97					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.E97E(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGAATGTCCTCTTCCAAGT	0.657																																						ENST00000342640.4																			1	Substitution - coding silent(1)	p.E97E(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(289-291)gaG>gaA		theg spermatid protein							114.0	122.0	119.0					19																	375680		2203	4300	6503	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:375680C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.291G>A	19.37:g.375680C>T						THEG_ENST00000346878.2_Silent_p.E97E	p.E97E	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	333	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	97					A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.291G>A	CCDS12025.1																																																																																				0.657	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			36	169	0	0	0	0.812448	0	36	169				
TUBB8P7	197331	broad.mit.edu	37	16	90161609	90161609	+	RNA	SNP	A	A	G	rs371305733		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr16:90161609A>G	ENST00000564451.1	+	0	962				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGATGGAGTCAGTGATGGACG	0.617																																						ENST00000564451.1																			0																																																			0							g.chr16:90161609A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161609A>G						TUBB8P7_ENST00000567960.1_RNA								0	962	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.617	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	39	0	0	0	0.150653	0	3	39				
PCDHGB3	56102	broad.mit.edu	37	5	140751900	140751900	+	Missense_Mutation	SNP	C	C	T	rs376897075		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr5:140751900C>T	ENST00000576222.1	+	1	2070	c.1939C>T	c.(1939-1941)Cgt>Tgt	p.R647C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	647	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCACTGTGCGTGATGGAGG	0.652																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1939-1941)Cgt>Tgt				C	,,,,,,,CYS/ARG,CYS/ARG	0,4226		0,0,2113	45.0	51.0	49.0		,,,,,,,1939,1939	1.1	0.0	5		49	1,8485		0,1,4242	no	intron,intron,intron,intron,intron,intron,intron,missense,missense	PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032097.1	,,,,,,,180,180	0,1,6355	TT,TC,CC		0.0118,0.0,0.0079	,,,,,,,,	,,,,,,,647/930,647/815	140751900	1,12711	2113	4243	6356	SO:0001583	missense	0							g.chr5:140751900C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1939C>T	5.37:g.140751900C>T	ENSP00000461862:p.Arg647Cys					PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.R647C	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2070	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1939C>T	CCDS58980.1																																																																																				0.652	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		14	89	0	0	0	0.479597	0	14	89				
LRRC47	57470	broad.mit.edu	37	1	3697704	3697704	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr1:3697704G>C	ENST00000378251.1	-	7	1727	c.1700C>G	c.(1699-1701)cCg>cGg	p.P567R	RN7SL574P_ENST00000581512.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	567							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)	p.P567R(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GGCCTTGGACGGGTACACCAC	0.652																																						ENST00000378251.1																			1	Substitution - Missense(1)	p.P567R(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1699-1701)cCg>cGg		leucine rich repeat containing 47							65.0	71.0	69.0					1																	3697704		2203	4300	6503	SO:0001583	missense	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3697704G>C	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1700C>G	1.37:g.3697704G>C	ENSP00000367498:p.Pro567Arg						p.P567R	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	7	1727	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	567					Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	c.1700C>G	CCDS51.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463835	0.84425	.	.	ENSG00000130764	ENST00000378251	T	0.71817	-0.6	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.83188	0.5200	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85166	0.0995	10	0.87932	D	0	-32.6402	17.5952	0.88010	0.0:0.0:1.0:0.0	.	567	Q8N1G4	LRC47_HUMAN	R	567	ENSP00000367498:P567R	ENSP00000367498:P567R	P	-	2	0	LRRC47	3687564	1.000000	0.71417	0.948000	0.38648	0.828000	0.46876	9.047000	0.93823	2.396000	0.81511	0.655000	0.94253	CCG		0.652	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		17	69	0	0	0	0.539581	0	17	69				
HTR5A	3361	broad.mit.edu	37	7	154862620	154862620	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr7:154862620C>T	ENST00000287907.2	+	1	587	c.11C>T	c.(10-12)cCt>cTt	p.P4L	HTR5A-AS1_ENST00000543018.1_Intron|HTR5A-AS1_ENST00000395731.2_Intron|HTR5A-AS1_ENST00000493904.1_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	4					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.P4L(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	ATGGATTTACCTGTGAACCTA	0.612																																						ENST00000287907.2																			1	Substitution - Missense(1)	p.P4L(1)	prostate(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(10-12)cCt>cTt		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							115.0	124.0	121.0					7																	154862620		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862620C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.11C>T	7.37:g.154862620C>T	ENSP00000287907:p.Pro4Leu					AC093726.4_ENST00000543018.1_Intron|AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000395731.2_Intron	p.P4L	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	587	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	4					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.11C>T	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921979	0.33908	.	.	ENSG00000157219	ENST00000287907	T	0.70045	-0.45	4.56	2.73	0.32206	.	0.206931	0.25091	N	0.033216	T	0.43433	0.1247	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.38415	-0.9662	10	0.62326	D	0.03	.	8.5981	0.33727	0.1522:0.7673:0.0:0.0804	.	4	P47898	5HT5A_HUMAN	L	4	ENSP00000287907:P4L	ENSP00000287907:P4L	P	+	2	0	HTR5A	154493553	0.001000	0.12720	0.002000	0.10522	0.979000	0.70002	1.373000	0.34272	0.529000	0.28599	0.467000	0.42956	CCT		0.612	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		27	133	0	0	0	0.706142	0	27	133				
PLXNA2	5362	broad.mit.edu	37	1	208272307	208272307	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr1:208272307G>A	ENST00000367033.3	-	6	2372	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	539					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R539C(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTGTCCCTGCGGGAGCACCTG	0.562																																						ENST00000367033.3																			1	Substitution - Missense(1)	p.R539C(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1615-1617)Cgc>Tgc		plexin A2							48.0	41.0	44.0					1																	208272307		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208272307G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1615C>T	1.37:g.208272307G>A	ENSP00000356000:p.Arg539Cys						p.R539C	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	6	2372	-			539					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.1615C>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961031	0.74016	.	.	ENSG00000076356	ENST00000367033	T	0.19806	2.12	4.42	3.49	0.39957	.	0.205916	0.44688	D	0.000433	T	0.52901	0.1763	M	0.91612	3.225	0.58432	D	0.999993	D	0.89917	1.0	D	0.79108	0.992	T	0.63501	-0.6623	10	0.51188	T	0.08	.	13.9314	0.63998	0.0:0.0:0.8475:0.1525	.	539	O75051	PLXA2_HUMAN	C	539	ENSP00000356000:R539C	ENSP00000356000:R539C	R	-	1	0	PLXNA2	206338930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.754000	0.55189	1.051000	0.40369	0.561000	0.74099	CGC		0.562	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		6	21	0	0	0	0.278610	0	6	21				
NRAP	4892	broad.mit.edu	37	10	115372082	115372082	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr10:115372082C>A	ENST00000359988.3	-	30	3653	c.3409G>T	c.(3409-3411)Gac>Tac	p.D1137Y	NRAP_ENST00000360478.3_Missense_Mutation_p.D1102Y|NRAP_ENST00000369360.3_Missense_Mutation_p.D1110Y|NRAP_ENST00000369358.4_Missense_Mutation_p.D1145Y	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.D1137Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGTTTGTAGTCCTGATTGCTG	0.542																																						ENST00000369358.4																			1	Substitution - Missense(1)	p.D1137Y(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3433-3435)Gac>Tac		nebulin-related anchoring protein							130.0	115.0	120.0					10																	115372082		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115372082C>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3409G>T	10.37:g.115372082C>A	ENSP00000353078:p.Asp1137Tyr					NRAP_ENST00000369360.3_Missense_Mutation_p.D1110Y|NRAP_ENST00000360478.3_Missense_Mutation_p.D1102Y|NRAP_ENST00000359988.3_Missense_Mutation_p.D1137Y	p.D1145Y			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	30	3677	-		Colorectal(252;0.0233)|Breast(234;0.188)	1137						Missense_Mutation	SNP	ENST00000359988.3	37	c.3433G>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460010	0.84317	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.62	5.62	0.85841	.	0.094604	0.64402	D	0.000001	T	0.71316	0.3325	M	0.86502	2.82	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.75484	0.968;0.986;0.927	T	0.75139	-0.3423	10	0.72032	D	0.01	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	1137;1102;1137	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	Y	1145;1110;1137;1102	ENSP00000358365:D1145Y;ENSP00000358367:D1110Y;ENSP00000353078:D1137Y;ENSP00000353666:D1102Y	ENSP00000353078:D1137Y	D	-	1	0	NRAP	115362072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.005000	0.70716	2.818000	0.97014	0.655000	0.94253	GAC		0.542	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		13	81	1	0	0.000151284	0.435327	0.000161839	13	81				
CLK3	1198	broad.mit.edu	37	15	74917313	74917313	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr15:74917313A>G	ENST00000395066.3	+	6	1509	c.1048A>G	c.(1048-1050)Atc>Gtc	p.I350V	CLK3_ENST00000345005.4_Missense_Mutation_p.I202V|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000352989.5_Missense_Mutation_p.I179V	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.I202V(2)|p.I350V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CCGGCTAGAAATCAACGTGCT	0.542																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			3	Substitution - Missense(3)	p.I202V(2)|p.I350V(1)	prostate(3)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(1048-1050)Atc>Gtc		CDC-like kinase 3							63.0	52.0	56.0					15																	74917313		2197	4296	6493	SO:0001583	missense	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74917313A>G	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1048A>G	15.37:g.74917313A>G	ENSP00000378505:p.Ile350Val					CLK3_ENST00000352989.5_Missense_Mutation_p.I179V|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Missense_Mutation_p.I202V	p.I350V	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			6	1509	+			350			Protein kinase.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	c.1048A>G	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	A	30	5.050189	0.93740	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	T;T	0.20332	2.08;2.08	5.27	5.27	0.74061	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	0.64402	D	0.000001	T	0.21186	0.0510	N	0.17594	0.5	0.80722	D	1	B;P;P;B	0.37083	0.135;0.581;0.504;0.017	B;B;P;B	0.45474	0.272;0.424;0.482;0.043	T	0.07578	-1.0765	10	0.52906	T	0.07	.	15.1805	0.72952	1.0:0.0:0.0:0.0	.	350;55;129;179	P49761;B3KVF3;B3KUU7;G5E959	CLK3_HUMAN;.;.;.	V	202;202;350;179	ENSP00000344112:I202V;ENSP00000323106:I179V	ENSP00000344112:I202V	I	+	1	0	CLK3	72704366	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.311000	0.78958	1.994000	0.58287	0.459000	0.35465	ATC		0.542	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			7	42	0	0	0	0.248553	0	7	42				
CD1B	910	broad.mit.edu	37	1	158299693	158299693	+	Nonsense_Mutation	SNP	G	G	A	rs370440810		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr1:158299693G>A	ENST00000368168.3	-	3	663	c.556C>T	c.(556-558)Cga>Tga	p.R186*		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	186	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.R186*(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AAGAGATATCGGGGGCAGGTT	0.463																																						ENST00000368168.3																			1	Substitution - Nonsense(1)	p.R186*(1)	prostate(1)	breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(556-558)Cga>Tga		CD1b molecule		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	134.0	124.0	127.0		556	-0.1	0.0	1		127	0,8600		0,0,4300	no	stop-gained	CD1B	NM_001764.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		186/334	158299693	1,13005	2203	4300	6503	SO:0001587	stop_gained	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299693G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.556C>T	1.37:g.158299693G>A	ENSP00000357150:p.Arg186*						p.R186*	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			3	663	-	all_hematologic(112;0.0378)		186			Ig-like.		Q5TDK9|Q5TDL0|Q9UMM2	Nonsense_Mutation	SNP	ENST00000368168.3	37	c.556C>T	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.01|19.01	3.742912|3.742912	0.69418|0.69418	2.27E-4|2.27E-4	0.0|0.0	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	T|.	0.07908|.	3.15|.	4.46|4.46	-0.0677|-0.0677	0.13759|0.13759	.|.	.|1.314320	.|0.05589	.|N	.|0.574413	T|.	0.03651|.	0.0104|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27536|.	-1.0071|.	5|.	0.34782|0.02654	T|T	0.22|1	-0.0048|-0.0048	7.2959|7.2959	0.26393|0.26393	0.0:0.1582:0.3556:0.4862|0.0:0.1582:0.3556:0.4862	.|.	.|.	.|.	.|.	L|X	153|186	ENSP00000395161:P153L|.	ENSP00000395161:P153L|ENSP00000357150:R186X	P|R	-|-	2|1	0|2	CD1B|CD1B	156566317|156566317	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.077000|0.077000	0.17291|0.17291	-0.204000|-0.204000	0.09425|0.09425	-0.083000|-0.083000	0.12618|0.12618	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.463	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		25	135	0	0	0	0.654019	0	25	135				
AMER3	205147	broad.mit.edu	37	2	131520858	131520858	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr2:131520858C>T	ENST00000423981.1	+	2	1323	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	AMER3_ENST00000321420.4_Missense_Mutation_p.P405S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	405					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.P405S(1)									AGCTGAGAGCCCAGGCACTCC	0.632																																						ENST00000423981.1																			1	Substitution - Missense(1)	p.P405S(1)	prostate(1)								c.(1213-1215)Cca>Tca		APC membrane recruitment protein 3							68.0	56.0	60.0					2																	131520858		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520858C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1213C>T	2.37:g.131520858C>T	ENSP00000392700:p.Pro405Ser					AMER3_ENST00000321420.4_Missense_Mutation_p.P405S	p.P405S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	1323	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1213C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194546	0.38806	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.16324	2.35;2.35	5.2	5.2	0.72013	.	0.084067	0.48286	D	0.000187	T	0.30262	0.0759	L	0.32530	0.975	0.33194	D	0.551269	D	0.89917	1.0	D	0.83275	0.996	T	0.18745	-1.0327	10	0.37606	T	0.19	.	14.6087	0.68501	0.0:1.0:0.0:0.0	.	405	Q8N944	F123C_HUMAN	S	405	ENSP00000314914:P405S;ENSP00000392700:P405S	ENSP00000314914:P405S	P	+	1	0	FAM123C	131237328	0.276000	0.24211	0.968000	0.41197	0.026000	0.11368	0.688000	0.25422	2.602000	0.87976	0.561000	0.74099	CCA		0.632	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		18	55	0	0	0	0.557998	0	18	55				
ARHGAP36	158763	broad.mit.edu	37	X	130220378	130220378	+	Missense_Mutation	SNP	C	C	T	rs373442691		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chrX:130220378C>T	ENST00000276211.5	+	10	1702	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R317C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R441C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	453					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R453C(2)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTTTATCAGACGCAGGAACTT	0.473																																						ENST00000276211.5																			2	Substitution - Missense(2)	p.R453C(2)	prostate(2)	breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(1357-1359)Cgc>Tgc		Rho GTPase activating protein 36		C	CYS/ARG	0,3835		0,0,0,1632,571	101.0	96.0	98.0		1357	3.8	1.0	X		98	1,6727		0,0,1,2428,1871	no	missense	ARHGAP36	NM_144967.3	180	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	probably-damaging	453/548	130220378	1,10562	2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220378C>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1357C>T	X.37:g.130220378C>T	ENSP00000276211:p.Arg453Cys					ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R317C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R441C	p.R453C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			10	1702	+			453					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1357C>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025390	0.54683	0.0	1.49E-4	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.16073	2.38;2.37;2.4;2.56	4.69	3.83	0.44106	.	0.000000	0.45867	D	0.000334	T	0.19167	0.0460	N	0.08118	0	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.99	T	0.09952	-1.0651	10	0.72032	D	0.01	.	7.7458	0.28869	0.0:0.8835:0.0:0.1165	.	422;441;453	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	C	453;441;422;317	ENSP00000276211:R453C;ENSP00000359960:R441C;ENSP00000408515:R422C;ENSP00000359959:R317C	ENSP00000276211:R453C	R	+	1	0	ARHGAP36	130048059	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.623000	0.37008	1.088000	0.41272	0.600000	0.82982	CGC		0.473	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		22	30	0	0	0	0.624587	0	22	30				
CADM2	253559	broad.mit.edu	37	3	86114827	86114827	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr3:86114827T>G	ENST00000407528.2	+	9	1198	c.1136T>G	c.(1135-1137)tTt>tGt	p.F379C	CADM2_ENST00000383699.3_Missense_Mutation_p.F348C|CADM2_ENST00000405615.2_Missense_Mutation_p.F381C	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	379					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.F381C(2)|p.F348C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTAGTTGTATTTGTCACGCTG	0.423																																						ENST00000383699.3																			3	Substitution - Missense(3)	p.F381C(2)|p.F348C(1)	prostate(3)	endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(1042-1044)tTt>tGt		cell adhesion molecule 2							190.0	163.0	172.0					3																	86114827		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86114827T>G	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1136T>G	3.37:g.86114827T>G	ENSP00000384575:p.Phe379Cys					CADM2_ENST00000405615.2_Missense_Mutation_p.F381C|CADM2_ENST00000407528.2_Missense_Mutation_p.F379C	p.F348C	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	9	1670	+		Lung NSC(201;0.0148)	379			Thr-rich.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.1043T>G	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623224	0.87460	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.72835	-0.48;-0.68;-0.69	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.83064	0.5173	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.996	T	0.81328	-0.0982	10	0.27785	T	0.31	.	16.0708	0.80928	0.0:0.0:0.0:1.0	.	381;348;379	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	C	348;379;381	ENSP00000373200:F348C;ENSP00000384575:F379C;ENSP00000384193:F381C	ENSP00000373200:F348C	F	+	2	0	CADM2	86197517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.197000	0.70478	0.528000	0.53228	TTT		0.423	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		4	48	0	0	0	0.150653	0	4	48				
ZNF257	113835	broad.mit.edu	37	19	22271354	22271354	+	Missense_Mutation	SNP	C	C	T	rs17853619		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr19:22271354C>T	ENST00000594947.1	+	4	946	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R268W(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCCTTTAACCGGTCTTCACA	0.388																																						ENST00000594947.1																			1	Substitution - Missense(1)	p.R268W(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(802-804)Cgg>Tgg		zinc finger protein 257							41.0	44.0	43.0					19																	22271354		2078	4253	6331	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271354C>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.802C>T	19.37:g.22271354C>T	ENSP00000470209:p.Arg268Trp						p.R268W	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN			4	946	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	268					B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.802C>T	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	0.908	-0.719915	0.03182	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29491	0.0735	L	0.59436	1.845	0.09310	N	1	B	0.24618	0.107	B	0.04013	0.001	T	0.21449	-1.0245	8	0.25106	T	0.35	.	3.081	0.06262	0.2075:0.1824:0.0:0.6101	.	268	Q9Y2Q1	ZN257_HUMAN	W	268;240	.	ENSP00000380312:R240W	R	+	1	2	ZNF257	22063194	0.001000	0.12720	0.002000	0.10522	0.195000	0.23768	0.878000	0.28126	-0.628000	0.05582	-0.657000	0.03884	CGG		0.388	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			3	33	0	0	0	0.115264	0	3	33				
BCRP7	100133163	broad.mit.edu	37	22	18846006	18846006	+	3'UTR	SNP	A	A	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr22:18846006A>G	ENST00000412938.1	+	0	3364																											GCGCAGGCCGACACTCACTGA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846006A>G																												ENST00000412938.1:c.*3361A>G	22.37:g.18846006A>G														0	3364	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	55	0	0	0	0.115264	0	3	55				
PCLO	27445	broad.mit.edu	37	7	82763829	82763829	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr7:82763829C>G	ENST00000333891.9	-	3	3374	c.3037G>C	c.(3037-3039)Gaa>Caa	p.E1013Q	PCLO_ENST00000423517.2_Missense_Mutation_p.E1013Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E1013Q(2)|p.E959Q(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAGCTTGTTCAGCTTTGGGC	0.433																																						ENST00000423517.2																			3	Substitution - Missense(3)	p.E1013Q(2)|p.E959Q(1)	prostate(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3037-3039)Gaa>Caa		piccolo presynaptic cytomatrix protein							84.0	82.0	83.0					7																	82763829		1836	4085	5921	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82763829C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3037G>C	7.37:g.82763829C>G	ENSP00000334319:p.Glu1013Gln					PCLO_ENST00000333891.8_Missense_Mutation_p.E1013Q	p.E1013Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	3374	-			959						Missense_Mutation	SNP	ENST00000333891.9	37	c.3037G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	8.151	0.787480	0.16258	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.76968	-1.06;-1.06	6.07	6.07	0.98685	.	.	.	.	.	T	0.73148	0.3550	L	0.51422	1.61	0.20764	N	0.999851	B;B	0.18610	0.029;0.029	B;B	0.19391	0.025;0.025	T	0.64622	-0.6364	9	0.87932	D	0	.	10.3528	0.43945	0.0:0.7923:0.1358:0.0719	.	1013;1013	Q9Y6V0-5;Q9Y6V0-6	.;.	Q	959;1013;1013	ENSP00000334319:E1013Q;ENSP00000388393:E1013Q	ENSP00000334319:E1013Q	E	-	1	0	PCLO	82601765	0.178000	0.23122	0.760000	0.31359	0.941000	0.58515	3.001000	0.49488	2.884000	0.98904	0.655000	0.94253	GAA		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	33	0	0	0	0.387290	0	12	33				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	73	0	0	0	0.184627	0	5	73				
CCT8L2	150160	broad.mit.edu	37	22	17073169	17073169	+	Missense_Mutation	SNP	C	C	A	rs573220545		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr22:17073169C>A	ENST00000359963.3	-	1	531	c.272G>T	c.(271-273)cGg>cTg	p.R91L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	91					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.R91L(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCCTGCTTCCCGGAGGAGCCA	0.602																																						ENST00000359963.3																			1	Substitution - Missense(1)	p.R91L(1)	prostate(1)	breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(271-273)cGg>cTg		chaperonin containing TCP1, subunit 8 (theta)-like 2							74.0	60.0	65.0					22																	17073169		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073169C>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.272G>T	22.37:g.17073169C>A	ENSP00000353048:p.Arg91Leu						p.R91L	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	531	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	91					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.272G>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	8.895	0.954924	0.18431	.	.	ENSG00000198445	ENST00000359963	T	0.79454	-1.27	2.0	2.0	0.26442	.	0.264998	0.19890	U	0.103744	T	0.68146	0.2969	L	0.44542	1.39	0.25029	N	0.991289	B	0.18741	0.03	B	0.24701	0.055	T	0.63457	-0.6633	10	0.87932	D	0	-15.0592	7.4831	0.27417	0.0:1.0:0.0:0.0	.	91	Q96SF2	TCPQM_HUMAN	L	91	ENSP00000353048:R91L	ENSP00000353048:R91L	R	-	2	0	CCT8L2	15453169	0.050000	0.20438	0.175000	0.22980	0.102000	0.19082	0.014000	0.13333	1.126000	0.42016	0.393000	0.25936	CGG		0.602	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			3	47	1	0	0.115264	0.115264	0.117825	3	47				
GSDMD	79792	broad.mit.edu	37	8	144643541	144643541	+	Splice_Site	SNP	C	C	T	rs201583128		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr8:144643541C>T	ENST00000526406.1	+	9	1567	c.684C>T	c.(682-684)gaC>gaT	p.D228D	GSDMD_ENST00000533063.1_Splice_Site_p.D276D|GSDMD_ENST00000262580.4_Splice_Site_p.D228D	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	228					cellular response to extracellular stimulus (GO:0031668)			p.D228D(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GGCTGCCAGACGTCCTTCTCT	0.637																																						ENST00000526406.1																			1	Substitution - coding silent(1)	p.D228D(1)	prostate(1)	breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.e9-1		gasdermin D		C	,	0,4388		0,0,2194	49.0	48.0	48.0		684,684	-7.7	0.0	8		48	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous-near-splice,coding-synonymous-near-splice	GSDMD	NM_001166237.1,NM_024736.6	,	0,2,6489	TT,TC,CC		0.0233,0.0,0.0154	,	228/485,228/485	144643541	2,12980	2194	4297	6491	SO:0001630	splice_region_variant	79792							g.chr8:144643541C>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.683-1C>T	8.37:g.144643541C>T						GSDMD_ENST00000533063.1_Splice_Site_p.D276_splice|GSDMD_ENST00000262580.4_Splice_Site_p.D228_splice	p.D228_splice	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			9	1567	+			228					D3DWJ9|Q96Q98	Splice_Site	SNP	ENST00000526406.1	37	c.682_splice	CCDS34956.1																																																																																				0.637	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736	Silent	3	14	0	0	0	0.150653	0	3	14				
CYP4Z2P	163720	broad.mit.edu	37	1	47310359	47310360	+	RNA	INS	-	-	T	rs372212671		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:47310359_47310360insT	ENST00000505841.1	-	0	1269					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CAAAAACAAAACCCTAGATATT	0.421																																						ENST00000505841.1																			0																																																			0							g.chr1:47310359_47310360insT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47310359_47310360insT								NR_002788.2						0	1269	-								Q66ZJ5	RNA	INS	ENST00000505841.1	37																																																																																						0.421	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		5	6						5	6	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78790077	78790078	+	Intron	INS	-	-	GG			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr9:78790077_78790078insGG	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.K645fs|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACAGGCTAAAAAGAGGCAGCT	0.485																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1930-1935)aaagagfs		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790077_78790078insGG		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+32->GG	9.37:g.78790077_78790078insGG						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.KE644fs			Q92824	PCSK5_HUMAN			14	2444_2445	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Frame_Shift_Ins	INS	ENST00000545128.1	37	c.1932_1933insGG	CCDS55320.1																																																																																				0.485	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	51						10	51	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085940	11085942	+	RNA	DEL	CAC	CAC	-			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr21:11085940_11085942delCAC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccatcaccaccaccacc	0.532																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085940_11085942delCAC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085949_11085951delCAC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.532	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
PCSK9	255738	broad.mit.edu	37	1	55505552	55505553	+	In_Frame_Ins	INS	-	-	CTG	rs35574083|rs371488778|rs113330492|rs45454392|rs67610340	byFrequency	TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr1:55505552_55505553insCTG	ENST00000302118.5	+	1	332_333	c.42_43insCTG	c.(43-45)ctg>CTGctg	p.15_15L>LL	PCSK9_ENST00000452118.2_In_Frame_Ins_p.15_15L>LL|PCSK9_ENST00000543384.1_5'Flank	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	15					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						Ggccgctgccactgctgctgct	0.703																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			2	Insertion - In frame(2)	p.P14_L15insL(2)	breast(1)|central_nervous_system(1)	NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(40-45)cctgct>ccCTGtgct		proprotein convertase subtilisin/kexin type 9																																				SO:0001652	inframe_insertion	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55505552_55505553insCTG	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.61_63dupCTG	1.37:g.55505559_55505561dupCTG	ENSP00000303208:p.Leu23dup					PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15PA>PCA	p.14_15PA>PCA	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			1	332_333	+			14					A8T640|C0JYY9|Q5PSM5|Q5SZQ2	In_Frame_Ins	INS	ENST00000302118.5	37	c.42_43insCTG	CCDS603.1																																																																																				0.703	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		3	6						3	6	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78790077	78790078	+	Intron	INS	-	-	GG			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr9:78790077_78790078insGG	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.K645fs|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACAGGCTAAAAAGAGGCAGCT	0.485																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1930-1935)aaagagfs		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790077_78790078insGG		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+32->GG	9.37:g.78790077_78790078insGG						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.KE644fs			Q92824	PCSK5_HUMAN			14	2444_2445	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Frame_Shift_Ins	INS	ENST00000545128.1	37	c.1932_1933insGG	CCDS55320.1																																																																																				0.485	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	51						10	51	---	---	---	---
FAM181B	220382	broad.mit.edu	37	11	82443763	82443763	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr11:82443763delG	ENST00000329203.3	-	1	1143	c.1009delC	c.(1009-1011)ctgfs	p.L337fs		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	337	Pro-rich.									large_intestine(1)|lung(2)|prostate(1)	4						GGGGCAGTCAGGGGGCTCTTT	0.711																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(1009-1011)tgfs		family with sequence similarity 181, member B							1.0	1.0	1.0					11																	82443763		890	2221	3111	SO:0001589	frameshift_variant	220382							g.chr11:82443763delG	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.1009delC	11.37:g.82443763delG	ENSP00000365295:p.Leu337fs						p.L337fs	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	1143	-			337			Pro-rich.		B2RWP1	Frame_Shift_Del	DEL	ENST00000329203.3	37	c.1009delC	CCDS31648.1																																																																																				0.711	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		2	4						2	4	---	---	---	---
