#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
TAS1R1	80835	broad.mit.edu	37	1	6639446	6639446	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:6639446C>G	ENST00000333172.6	+	6	2521	c.2328C>G	c.(2326-2328)ttC>ttG	p.F776L	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000351136.3_Missense_Mutation_p.F522L|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	776					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.F776L(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGATCGCCTTCTTCACCACGG	0.577																																						uc001ant.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2326-2328)TTC>TTG		sweet taste receptor T1r isoform b							153.0	127.0	136.0					1																	6639446		2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6639446C>G		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2328C>G	1.37:g.6639446C>G	ENSP00000331867:p.Phe776Leu					TAS1R1_uc001anu.2_Missense_Mutation_p.F522L|TAS1R1_uc001anv.2_Missense_Mutation_p.S308C|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	p.F776L	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	2328	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	776			Helical; Name=6; (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.2328C>G	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.79|10.79	1.448480|1.448480	0.26074|0.26074	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000333172;ENST00000351136|ENST00000415267	D;D|.	0.90133|.	-2.62;-2.62|.	5.18|5.18	2.28|2.28	0.28536|0.28536	GPCR, family 3, C-terminal (2);|.	0.142456|.	0.46442|.	D|.	0.000284|.	T|T	0.43634|0.43634	0.1256|0.1256	L|L	0.37800|0.37800	1.135|1.135	0.80722|0.80722	D|D	1|1	B;B|.	0.29188|.	0.095;0.236|.	B;B|.	0.31614|.	0.051;0.133|.	T|T	0.16217|0.16217	-1.0410|-1.0410	10|5	0.59425|.	D|.	0.04|.	.|.	5.5599|5.5599	0.17137|0.17137	0.0:0.564:0.1326:0.3034|0.0:0.564:0.1326:0.3034	.|.	522;776|.	Q7RTX1-2;Q7RTX1|.	.;TS1R1_HUMAN|.	L|V	776;522|234	ENSP00000331867:F776L;ENSP00000312558:F522L|.	ENSP00000331867:F776L|.	F|L	+|+	3|1	2|0	TAS1R1|TAS1R1	6562033|6562033	0.011000|0.011000	0.17503|0.17503	0.989000|0.989000	0.46669|0.46669	0.844000|0.844000	0.47949|0.47949	-0.062000|-0.062000	0.11674|0.11674	0.582000|0.582000	0.29556|0.29556	0.591000|0.591000	0.81541|0.81541	TTC|CTT		0.577	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1				23	78	0	0	0	0.108266	0	23	78		
DNAJC11	55735	broad.mit.edu	37	1	6697333	6697333	+	Silent	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:6697333C>A	ENST00000377577.5	-	14	1572	c.1449G>T	c.(1447-1449)gtG>gtT	p.V483V	DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Silent_p.V393V|DNAJC11_ENST00000294401.7_Silent_p.V431V|DNAJC11_ENST00000542246.1_Silent_p.V445V|DNAJC11_ENST00000465508.1_5'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	483						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.V483V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CAATCACCTTCACCTTCTCGC	0.562																																						uc001aof.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1447-1449)GTG>GTT		DnaJ (Hsp40) homolog, subfamily C, member 11							280.0	212.0	235.0					1																	6697333		2203	4300	6503	SO:0001819	synonymous_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6697333C>A	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1449G>T	1.37:g.6697333C>A						DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.V431V|DNAJC11_uc010nzu.1_Silent_p.V393V	p.V483V	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	14	1555	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	483					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	37	c.1449G>T	CCDS87.1																																																																																				0.562	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3		NM_018198		91	117	1	0	3.28864e-39	0.048971	3.51189e-39	91	117		
FBXO42	54455	broad.mit.edu	37	1	16577222	16577222	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:16577222C>G	ENST00000375592.3	-	10	2313	c.2097G>C	c.(2095-2097)caG>caC	p.Q699H		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	699								p.Q699H(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ACTTCACATTCTGTTTCTTGT	0.428																																						uc001ayg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(2095-2097)CAG>CAC		F-box protein 42							163.0	155.0	158.0					1																	16577222		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16577222C>G	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.2097G>C	1.37:g.16577222C>G	ENSP00000364742:p.Gln699His					FBXO42_uc001aye.3_Missense_Mutation_p.Q417H|FBXO42_uc001ayf.2_Missense_Mutation_p.Q606H	p.Q699H	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	2313	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	699					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.2097G>C	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378777	0.61735	.	.	ENSG00000037637	ENST00000375592	T	0.05513	3.43	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.10551	0.0258	N	0.08118	0	0.80722	D	1	D	0.61697	0.99	D	0.70487	0.969	T	0.33752	-0.9856	10	0.59425	D	0.04	-11.4767	14.0509	0.64736	0.0:0.9254:0.0:0.0746	.	699	Q6P3S6	FBX42_HUMAN	H	699	ENSP00000364742:Q699H	ENSP00000364742:Q699H	Q	-	3	2	FBXO42	16449809	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.986000	0.40677	2.767000	0.95098	0.655000	0.94253	CAG		0.428	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1				143	177	0	0	0	0.048971	0	143	177		
FBXO42	54455	broad.mit.edu	37	1	16577397	16577397	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:16577397C>T	ENST00000375592.3	-	10	2138	c.1922G>A	c.(1921-1923)tGc>tAc	p.C641Y		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	641								p.C641Y(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CATGGGCTTGCAGTTCATACT	0.512																																						uc001ayg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1921-1923)TGC>TAC		F-box protein 42							156.0	159.0	158.0					1																	16577397		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16577397C>T	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1922G>A	1.37:g.16577397C>T	ENSP00000364742:p.Cys641Tyr					FBXO42_uc001aye.3_Missense_Mutation_p.C359Y|FBXO42_uc001ayf.2_Missense_Mutation_p.C548Y	p.C641Y	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	2138	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	641					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.1922G>A	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844694	0.71488	.	.	ENSG00000037637	ENST00000375592	T	0.04502	3.61	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.12902	0.0313	N	0.24115	0.695	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.05037	-1.0910	10	0.56958	D	0.05	-16.0524	18.7865	0.91957	0.0:1.0:0.0:0.0	.	641	Q6P3S6	FBX42_HUMAN	Y	641	ENSP00000364742:C641Y	ENSP00000364742:C641Y	C	-	2	0	FBXO42	16449984	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.587000	0.82613	2.767000	0.95098	0.655000	0.94253	TGC		0.512	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1				165	188	0	0	0	0.048971	0	165	188		
ZBTB40	9923	broad.mit.edu	37	1	22828819	22828819	+	Missense_Mutation	SNP	C	C	G	rs147907060	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:22828819C>G	ENST00000375647.4	+	5	1259	c.1052C>G	c.(1051-1053)tCt>tGt	p.S351C	ZBTB40_ENST00000404138.1_Missense_Mutation_p.S351C|ZBTB40_ENST00000374651.4_Intron	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	351					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S351C(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAGACCTTGTCTGTTCTGTTA	0.453																																						uc001bft.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1051-1053)TCT>TGT		zinc finger and BTB domain containing 40							95.0	80.0	85.0					1																	22828819		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22828819C>G	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1052C>G	1.37:g.22828819C>G	ENSP00000364798:p.Ser351Cys					ZBTB40_uc001bfu.2_Missense_Mutation_p.S351C|ZBTB40_uc009vqi.1_Intron|ZBTB40_uc001bfv.1_5'UTR	p.S351C	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	6	1563	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	351					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.1052C>G	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957991	0.53400	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239	T;T;T	0.44482	2.98;2.98;0.92	6.04	6.04	0.98038	.	0.000000	0.53938	D	0.000047	T	0.48768	0.1518	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	P	0.59703	0.862	T	0.47129	-0.9141	10	0.87932	D	0	-5.3086	12.4555	0.55702	0.0:0.9237:0.0:0.0763	.	351	Q9NUA8	ZBT40_HUMAN	C	351	ENSP00000384527:S351C;ENSP00000364798:S351C;ENSP00000383098:S351C	ENSP00000364798:S351C	S	+	2	0	ZBTB40	22701406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.119000	0.50422	2.873000	0.98535	0.561000	0.74099	TCT		0.453	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1		NM_014870		11	17	0	0	0	0.069234	0	11	17		
ZBTB40	9923	broad.mit.edu	37	1	22828866	22828866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:22828866C>T	ENST00000375647.4	+	5	1306	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*	ZBTB40_ENST00000404138.1_Nonsense_Mutation_p.Q367*|ZBTB40_ENST00000374651.4_Intron	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	367					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q367*(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GTGTGTAACACAGCTGAGACC	0.488																																						uc001bft.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(1099-1101)CAG>TAG		zinc finger and BTB domain containing 40							121.0	105.0	110.0					1																	22828866		2203	4300	6503	SO:0001587	stop_gained	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22828866C>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1099C>T	1.37:g.22828866C>T	ENSP00000364798:p.Gln367*					ZBTB40_uc001bfu.2_Nonsense_Mutation_p.Q367*|ZBTB40_uc009vqi.1_Intron|ZBTB40_uc001bfv.1_5'UTR	p.Q367*	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	6	1610	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	367					O75066|Q5TFU5|Q8N1R1	Nonsense_Mutation	SNP	ENST00000375647.4	37	c.1099C>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	41	8.687487	0.98914	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239	.	.	.	5.8	5.8	0.92144	.	0.000000	0.49916	D	0.000139	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.3528	14.2536	0.66035	0.0:0.8511:0.1489:0.0	.	.	.	.	X	367	.	ENSP00000364798:Q367X	Q	+	1	0	ZBTB40	22701453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.236000	0.43052	2.758000	0.94735	0.561000	0.74099	CAG		0.488	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1		NM_014870		20	20	0	0	0	0.049695	0	20	20		
DHDDS	79947	broad.mit.edu	37	1	26772917	26772917	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:26772917A>T	ENST00000236342.7	+	5	527	c.434A>T	c.(433-435)tAc>tTc	p.Y145F	DHDDS_ENST00000526219.1_Intron|DHDDS_ENST00000427245.2_Missense_Mutation_p.Y145F|DHDDS_ENST00000360009.2_Missense_Mutation_p.Y145F|DHDDS_ENST00000525682.2_Missense_Mutation_p.Y145F|DHDDS_ENST00000374185.3_Missense_Mutation_p.Y145F			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	145					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)	p.Y145F(1)		breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		ACGAAGAACTACAACAAGTAA	0.512																																						uc001bml.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)	3						c.(433-435)TAC>TTC		dehydrodolichyl diphosphate synthase isoform b							111.0	102.0	105.0					1																	26772917		2203	4300	6503	SO:0001583	missense	79947						protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr1:26772917A>T	AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.434A>T	1.37:g.26772917A>T	ENSP00000236342:p.Tyr145Phe					DHDDS_uc001bmk.2_Missense_Mutation_p.Y145F|DHDDS_uc001bmm.2_Missense_Mutation_p.Y52F|DHDDS_uc001bmn.2_Intron|DHDDS_uc010ofd.1_Missense_Mutation_p.Y145F	p.Y145F	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)	5	555	+		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	145					B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	ENST00000236342.7	37	c.434A>T	CCDS282.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.558125	0.65538	.	.	ENSG00000117682	ENST00000374190;ENST00000374187;ENST00000374192;ENST00000427245;ENST00000525682;ENST00000236342;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000436153;ENST00000431933	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	6.04	6.04	0.98038	.	0.102279	0.64402	D	0.000002	T	0.54191	0.1843	L	0.58583	1.82	0.53005	D	0.999968	B;B;B	0.24258	0.1;0.006;0.005	B;B;B	0.29077	0.098;0.038;0.022	T	0.54410	-0.8298	10	0.87932	D	0	-23.0189	15.7697	0.78157	1.0:0.0:0.0:0.0	.	145;145;145	B7Z4B9;Q86SQ9;Q86SQ9-2	.;DHDDS_HUMAN;.	F	113;52;41;145;145;145;145;145;145;145;50	ENSP00000399177:Y145F;ENSP00000434984:Y145F;ENSP00000236342:Y145F;ENSP00000363300:Y145F;ENSP00000353104:Y145F;ENSP00000436119:Y145F;ENSP00000399781:Y50F	ENSP00000236342:Y145F	Y	+	2	0	DHDDS	26645504	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.007000	0.93597	2.317000	0.78254	0.460000	0.39030	TAC		0.512	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1		NM_024887		69	90	0	0	0	0.048971	0	69	90		
EPB41	2035	broad.mit.edu	37	1	29438918	29438918	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:29438918G>C	ENST00000343067.4	+	19	2581	c.2454G>C	c.(2452-2454)aaG>aaC	p.K818N	EPB41_ENST00000356093.2_Missense_Mutation_p.K785N|EPB41_ENST00000398863.2_Missense_Mutation_p.K721N|EPB41_ENST00000460378.1_3'UTR|EPB41_ENST00000373798.1_Missense_Mutation_p.K818N|EPB41_ENST00000373800.3_Missense_Mutation_p.K542N|EPB41_ENST00000349460.4_Missense_Mutation_p.K595N|EPB41_ENST00000347529.3_Missense_Mutation_p.K729N	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	818	C-terminal (CTD).				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.K818N(1)|p.K595N(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GTATTGAAAAGAGAATTGTGA	0.428																																						uc001brm.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(2452-2454)AAG>AAC		erythrocyte membrane protein band 4.1							142.0	130.0	134.0					1																	29438918		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29438918G>C	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.2454G>C	1.37:g.29438918G>C	ENSP00000345259:p.Lys818Asn					EPB41_uc001brg.1_Missense_Mutation_p.K595N|EPB41_uc001brh.1_Missense_Mutation_p.K542N|EPB41_uc001bri.1_Missense_Mutation_p.K729N|EPB41_uc001brj.1_Missense_Mutation_p.K555N|EPB41_uc001brl.1_Missense_Mutation_p.K785N|EPB41_uc009vtl.1_Missense_Mutation_p.K512N|EPB41_uc009vtm.1_Missense_Mutation_p.K397N|EPB41_uc009vtn.1_RNA	p.K818N	NM_203342	NP_976217	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	18	2461	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	818			Carboxyl-terminal (CTD).		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.2454G>C	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786479	0.70337	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798	D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.73	2.42	0.29668	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92044	0.7479	M	0.89095	3.005	0.48185	D	0.999604	D;D;D;D;D;D;D;D	0.89917	0.976;1.0;0.999;1.0;1.0;1.0;0.996;1.0	D;D;D;D;D;D;D;D	0.97110	0.95;0.999;0.985;1.0;1.0;1.0;0.99;1.0	D	0.91673	0.5352	10	0.87932	D	0	.	9.6456	0.39865	0.3193:0.0:0.6807:0.0	.	658;721;818;785;781;729;542;595	E9PEX0;E9PEW9;P11171;P11171-2;Q59F12;P11171-5;P11171-4;P11171-3	.;.;41_HUMAN;.;.;.;.;.	N	781;818;785;721;658;595;542;729;818	ENSP00000345259:K818N;ENSP00000348397:K785N;ENSP00000381839:K721N;ENSP00000317597:K595N;ENSP00000362906:K542N;ENSP00000290100:K729N;ENSP00000362904:K818N	ENSP00000345259:K818N	K	+	3	2	EPB41	29311505	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.082000	0.41605	0.786000	0.33708	-0.258000	0.10820	AAG		0.428	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1		NM_203342		31	106	0	0	0	0.045705	0	31	106		
HMGB4	127540	broad.mit.edu	37	1	34329950	34329950	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:34329950C>G	ENST00000522796.1	+	4	2063	c.158C>G	c.(157-159)tCa>tGa	p.S53*	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Nonsense_Mutation_p.S53*			Q8WW32	HMGB4_HUMAN	high mobility group box 4	53						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S53*(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGATCCATCTCAAAGCATGAA	0.413																																						uc001bxp.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(157-159)TCA>TGA		HMG2 like isoform 1							112.0	124.0	120.0					1																	34329950		2203	4300	6503	SO:0001587	stop_gained	127540					nucleus	DNA binding	g.chr1:34329950C>G		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.158C>G	1.37:g.34329950C>G	ENSP00000430919:p.Ser53*					CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_5'UTR	p.S53*	NM_145205	NP_660206	Q8WW32	HMGB4_HUMAN			2	1901	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	53					B2R4X7|Q0QWA4	Nonsense_Mutation	SNP	ENST00000522796.1	37	c.158C>G	CCDS30668.1	.	.	.	.	.	.	.	.	.	.	C	51	18.544147	0.99907	.	.	ENSG00000176256	ENST00000519684;ENST00000522796	.	.	.	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	15.093	0.72211	0.0:1.0:0.0:0.0	.	.	.	.	X	53	.	ENSP00000429214:S53X	S	+	2	0	HMGB4	34102537	0.998000	0.40836	0.383000	0.26132	0.989000	0.77384	2.909000	0.48758	2.941000	0.99782	0.655000	0.94253	TCA		0.413	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1		NM_145205		24	115	0	0	0	0.083992	0	24	115		
KDM4A	9682	broad.mit.edu	37	1	44169940	44169940	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:44169940G>A	ENST00000372396.3	+	22	3228	c.3094G>A	c.(3094-3096)Gag>Aag	p.E1032K	KDM4A-AS1_ENST00000453015.1_RNA|KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000418149.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	1032					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E1032K(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GATTTTCACAGAGAAAGAGGT	0.438																																						uc001cjx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(3094-3096)GAG>AAG		jumonji domain containing 2A							135.0	142.0	140.0					1																	44169940		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44169940G>A	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.3094G>A	1.37:g.44169940G>A	ENSP00000361473:p.Glu1032Lys					uc001cjy.2_Intron|ST3GAL3_uc009vwu.1_5'Flank|KDM4A_uc010oki.1_3'UTR	p.E1032K	NM_014663	NP_055478	O75164	KDM4A_HUMAN			22	3260	+			1032					Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.3094G>A	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769213	0.90020	.	.	ENSG00000066135	ENST00000372396	T	0.74209	-0.82	5.86	5.86	0.93980	.	0.097401	0.64402	D	0.000002	D	0.82481	0.5046	M	0.65498	2.005	0.80722	D	1	D	0.60575	0.988	P	0.54759	0.76	T	0.81331	-0.0981	10	0.44086	T	0.13	-27.2095	20.1768	0.98178	0.0:0.0:1.0:0.0	.	1032	O75164	KDM4A_HUMAN	K	1032	ENSP00000361473:E1032K	ENSP00000361473:E1032K	E	+	1	0	KDM4A	43942527	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.875000	0.87205	2.766000	0.95052	0.655000	0.94253	GAG		0.438	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1		NM_014663		144	172	0	0	0	0.048971	0	144	172		
ELAVL4	1996	broad.mit.edu	37	1	50610766	50610766	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:50610766C>T	ENST00000371823.4	+	2	371	c.147C>T	c.(145-147)atC>atT	p.I49I	ELAVL4_ENST00000371819.1_Silent_p.I54I|ELAVL4_ENST00000371821.1_Silent_p.I54I|ELAVL4_ENST00000357083.4_Silent_p.I66I|ELAVL4_ENST00000371827.1_Silent_p.I49I|ELAVL4_ENST00000448907.2_Silent_p.I52I|ELAVL4_ENST00000371824.1_Silent_p.I49I|ELAVL4_ENST00000492299.1_3'UTR	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	49	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.I49I(1)|p.I66I(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CCAACCTCATCGTCAACTATT	0.448																																						uc001csb.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|pancreas(1)	2						c.(145-147)ATC>ATT		ELAV-like 4 isoform 1							116.0	105.0	109.0					1																	50610766		2203	4300	6503	SO:0001819	synonymous_variant	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50610766C>T	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.147C>T	1.37:g.50610766C>T						ELAVL4_uc001cry.3_Silent_p.I52I|ELAVL4_uc001crz.3_Silent_p.I49I|ELAVL4_uc001csa.3_Silent_p.I66I|ELAVL4_uc001csc.3_Silent_p.I49I|ELAVL4_uc009vyu.2_Silent_p.I54I|ELAVL4_uc010omz.1_Silent_p.I54I	p.I49I	NM_021952	NP_068771	P26378	ELAV4_HUMAN			2	415	+			49			RRM 1.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Silent	SNP	ENST00000371823.4	37	c.147C>T	CCDS553.1																																																																																				0.448	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1		NM_021952		8	31	0	0	0	0.038147	0	8	31		
ORC1	4998	broad.mit.edu	37	1	52863536	52863536	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:52863536C>T	ENST00000371568.3	-	4	442		c.e4-1		ORC1_ENST00000371566.1_Splice_Site	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGATCAGAGTCTAGAAAGAAT	0.478																																						uc001ctt.2		NaN																	1	Unknown(1)		urinary_tract(1)		0						c.e4-1		origin recognition complex, subunit 1							72.0	73.0	73.0					1																	52863536		2203	4300	6503	SO:0001630	splice_region_variant	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52863536C>T		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.224-1G>A	1.37:g.52863536C>T						ORC1L_uc010oni.1_Splice_Site_p.D75_splice|ORC1L_uc001ctu.2_Splice_Site_p.D75_splice|ORC1L_uc009vzd.2_Splice_Site	p.D75_splice	NM_004153	NP_004144	Q13415	ORC1_HUMAN			4	443	-								D3DQ34|Q13471|Q5T0F5	Splice_Site	SNP	ENST00000371568.3	37	c.224_splice	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804566	0.50315	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8165	0.88635	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ORC1	52636124	0.936000	0.31750	0.396000	0.26296	0.103000	0.19146	4.126000	0.57937	2.457000	0.83068	0.460000	0.39030	.		0.478	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1		NM_004153	Intron	34	98	0	0	0	0.064281	0	34	98		
GLIS1	148979	broad.mit.edu	37	1	54060249	54060249	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:54060249C>T	ENST00000312233.2	-	3	893	c.327G>A	c.(325-327)ctG>ctA	p.L109L		NM_147193.2	NP_671726.2			GLIS family zinc finger 1									p.L109L(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GATCTCCCGTCAGAGGGGGGC	0.657																																						uc001cvr.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(325-327)CTG>CTA		GLIS family zinc finger 1							20.0	25.0	24.0					1																	54060249		2177	4249	6426	SO:0001819	synonymous_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060249C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.327G>A	1.37:g.54060249C>T							p.L109L	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			3	894	-			109						Silent	SNP	ENST00000312233.2	37	c.327G>A	CCDS582.1																																																																																				0.657	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1		NM_147193		19	56	0	0	0	0.055883	0	19	56		
PCSK9	255738	broad.mit.edu	37	1	55523842	55523842	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:55523842C>G	ENST00000302118.5	+	8	1604	c.1314C>G	c.(1312-1314)ccC>ccG	p.P438P	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	438					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.P438P(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						TACTGACCCCCAACCTGGTGG	0.627																																					Pancreas(137;1454 1827 5886 22361 42375)	uc001cyf.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1312-1314)CCC>CCG		proprotein convertase subtilisin/kexin type 9							46.0	46.0	46.0					1																	55523842		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:55523842C>G	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.1314C>G	1.37:g.55523842C>G						PCSK9_uc010oom.1_Intron	p.P438P	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN			8	1605	+			438					A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	c.1314C>G	CCDS603.1																																																																																				0.627	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1		NM_174936		15	71	0	0	0	0.0333	0	15	71		
ABCA4	24	broad.mit.edu	37	1	94476481	94476481	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:94476481C>T	ENST00000370225.3	-	40	5675	c.5589G>A	c.(5587-5589)gaG>gaA	p.E1863E	ABCA4_ENST00000536513.1_Silent_p.E133E|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000535881.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1863					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.E1863E(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAGAGTGCTCCTCACCTGGGC	0.592																																						uc001dqh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(5587-5589)GAG>GAA		ATP-binding cassette, sub-family A member 4							150.0	115.0	127.0					1																	94476481		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94476481C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5589G>A	1.37:g.94476481C>T						ABCA4_uc001dqi.1_5'UTR|ABCA4_uc009wdp.1_Silent_p.E131E	p.E1863E	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	40	5693	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1863					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.5589G>A	CCDS747.1																																																																																				0.592	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1		NM_000350		8	30	0	0	0	0.038147	0	8	30		
ARHGAP29	9411	broad.mit.edu	37	1	94674863	94674863	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:94674863G>A	ENST00000260526.6	-	4	566	c.384C>T	c.(382-384)ctC>ctT	p.L128L	ARHGAP29_ENST00000370217.3_Silent_p.L128L	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	128					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.L128L(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CTTCCTGGAAGAGATCGTTTT	0.323																																						uc001dqj.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(382-384)CTC>CTT		PTPL1-associated RhoGAP 1							80.0	79.0	79.0					1																	94674863		2200	4297	6497	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94674863G>A		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.384C>T	1.37:g.94674863G>A						ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Silent_p.L128L	p.L128L	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	4	753	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	128					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.384C>T	CCDS748.1																																																																																				0.323	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2		NM_004815		15	31	0	0	0	0.024245	0	15	31		
AGL	178	broad.mit.edu	37	1	100379088	100379088	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:100379088G>C	ENST00000294724.4	+	30	4433	c.3955G>C	c.(3955-3957)Gct>Cct	p.A1319P	AGL_ENST00000370161.2_Missense_Mutation_p.A1303P|AGL_ENST00000370163.3_Missense_Mutation_p.A1319P|AGL_ENST00000361302.3_Missense_Mutation_p.A1303P|AGL_ENST00000361915.3_Missense_Mutation_p.A1319P|AGL_ENST00000370165.3_Missense_Mutation_p.A1319P|AGL_ENST00000361522.4_Missense_Mutation_p.A1302P	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1319					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.A1319P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTCAGGAAAGGCTATAAAGGT	0.294																																						uc001dsi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3955-3957)GCT>CCT		amylo-1,6-glucosidase,							43.0	45.0	44.0					1																	100379088		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100379088G>C	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3955G>C	1.37:g.100379088G>C	ENSP00000294724:p.Ala1319Pro					AGL_uc001dsj.1_Missense_Mutation_p.A1319P|AGL_uc001dsk.1_Missense_Mutation_p.A1319P|AGL_uc001dsl.1_Missense_Mutation_p.A1319P|AGL_uc001dsm.1_Missense_Mutation_p.A1303P|AGL_uc001dsn.1_Missense_Mutation_p.A1302P	p.A1319P	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	30	4355	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1319			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.3955G>C	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341312	0.24339	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.74632	-0.85;-0.85;-0.85;-0.85;-0.86;-0.86;-0.86	5.72	-5.58	0.02512	Six-hairpin glycosidase-like (1);	1.062790	0.07271	N	0.869142	T	0.30854	0.0778	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14805	0.009;0.009;0.011	B;B;B	0.28849	0.095;0.095;0.086	T	0.27226	-1.0080	10	0.30854	T	0.27	.	2.5236	0.04686	0.2768:0.2787:0.3492:0.0954	.	1302;1303;1319	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	P	1319;1319;1319;1319;1303;1303;1302	ENSP00000355106:A1319P;ENSP00000359184:A1319P;ENSP00000359182:A1319P;ENSP00000294724:A1319P;ENSP00000354971:A1303P;ENSP00000359180:A1303P;ENSP00000354635:A1302P	ENSP00000294724:A1319P	A	+	1	0	AGL	100151676	0.008000	0.16893	0.000000	0.03702	0.008000	0.06430	0.773000	0.26661	-1.145000	0.02858	-1.224000	0.01588	GCT		0.294	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1		NM_000028		8	25	0	0	0	0.069234	0	8	25		
AMY2A	279	broad.mit.edu	37	1	104160582	104160582	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:104160582C>T	ENST00000414303.2	+	2	239	c.175C>T	c.(175-177)Cca>Tca	p.P59S		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	59					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)	p.P59S(1)		endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	GTAGGTCTCTCCACCAAATGA	0.333																																						uc001dut.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(175-177)CCA>TCA		pancreatic amylase alpha 2A precursor	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)						146.0	133.0	138.0					1																	104160582		2201	4278	6479	SO:0001583	missense	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160582C>T	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.175C>T	1.37:g.104160582C>T	ENSP00000397582:p.Pro59Ser					AMY2A_uc010ouq.1_Missense_Mutation_p.P59S	p.P59S	NM_000699	NP_000690	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	2	239	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	59					B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	c.175C>T	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.17|15.17	2.753399|2.753399	0.49362|0.49362	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000414303;ENST00000393932|ENST00000423678	D|D	0.99552|0.98777	-6.15|-5.13	3.37|3.37	2.43|2.43	0.29744|0.29744	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);|.	0.051068|.	0.85682|.	D|.	0.000000|.	D|D	0.99387|0.99387	0.9784|0.9784	H|H	0.98818|0.98818	4.34|4.34	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.98917|0.98917	1.0782|1.0782	10|7	0.87932|0.87932	D|D	0|0	.|.	10.8486|10.8486	0.46757|0.46757	0.0:0.9016:0.0:0.0984|0.0:0.9016:0.0:0.0984	.|.	59;59|.	B9EJG1;P04746|.	.;AMYP_HUMAN|.	S|F	59|57	ENSP00000397582:P59S|ENSP00000390832:S57F	ENSP00000377509:P59S|ENSP00000390832:S57F	P|S	+|+	1|2	0|0	AMY2A|AMY2A	103962105|103962105	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.467000|0.467000	0.32768|0.32768	4.550000|4.550000	0.60733|0.60733	0.724000|0.724000	0.32296|0.32296	0.455000|0.455000	0.32223|0.32223	CCA|TCC		0.333	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1		NM_000699		10	45	0	0	0	0.058154	0	10	45		
NUDT17	200035	broad.mit.edu	37	1	145586854	145586854	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:145586854G>A	ENST00000334513.5	-	7	845	c.834C>T	c.(832-834)gtC>gtT	p.V278V	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	278							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.V278V(1)		endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCCAGTGCTGACTCTCTCTT	0.547																																						uc001eoe.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(832-834)GTC>GTT		nudix (nucleoside diphosphate linked moiety							178.0	172.0	174.0					1																	145586854		2203	4300	6503	SO:0001819	synonymous_variant	200035						hydrolase activity|metal ion binding	g.chr1:145586854G>A	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.834C>T	1.37:g.145586854G>A						NBPF10_uc001emp.3_Intron	p.V278V	NM_001012758	NP_001012776	P0C025	NUD17_HUMAN			7	842	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		278						Silent	SNP	ENST00000334513.5	37	c.834C>T	CCDS30830.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362023	0.41902	.	.	ENSG00000186364	ENST00000444015	.	.	.	4.89	3.03	0.35002	.	.	.	.	.	T	0.53514	0.1801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58504	-0.7625	5	0.87932	D	0	-10.6342	9.2064	0.37291	0.1779:0.0:0.8221:0.0	.	.	.	.	L	162	.	ENSP00000392616:S162L	S	-	2	0	NUDT17	144298211	1.000000	0.71417	0.996000	0.52242	0.726000	0.41606	2.726000	0.47302	0.653000	0.30826	-0.143000	0.13931	TCA		0.547	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038541.3		XM_496395		294	465	0	0	0	0.048971	0	294	465		
SV2A	9900	broad.mit.edu	37	1	149885327	149885327	+	Silent	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:149885327G>T	ENST00000369146.3	-	2	556	c.66C>A	c.(64-66)gtC>gtA	p.V22V	SV2A_ENST00000369145.1_Silent_p.V22V	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	22	Interaction with SYT1. {ECO:0000250}.				cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.V22V(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CATGCTTTTTGACTTCCTTAG	0.552																																						uc001etg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(6)|pancreas(1)	7						c.(64-66)GTC>GTA		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						107.0	96.0	100.0					1																	149885327		2203	4300	6503	SO:0001819	synonymous_variant	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885327G>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.66C>A	1.37:g.149885327G>T						SV2A_uc001eth.2_Silent_p.V22V	p.V22V	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	557	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		22			Cytoplasmic (Potential).|Interaction with SYT1 (By similarity).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.66C>A	CCDS940.1																																																																																				0.552	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1				130	181	1	0	8.39805e-80	0.048971	9.0628e-80	130	181		
SCNM1	79005	broad.mit.edu	37	1	151138954	151138954	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:151138954G>A	ENST00000368905.4	+	2	170	c.59G>A	c.(58-60)aGa>aAa	p.R20K	SCNM1_ENST00000461862.1_3'UTR|LYSMD1_ENST00000368908.5_5'Flank|LYSMD1_ENST00000440902.2_5'Flank	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	20					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)	p.R20K(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAAAAGAAGAGTCGGGGAC	0.527																																						uc001ewz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(58-60)AGA>AAA		sodium channel modifier 1							38.0	37.0	38.0					1																	151138954		2203	4300	6503	SO:0001583	missense	79005				mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding	g.chr1:151138954G>A	BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258	ENST00000368905.4:c.59G>A	1.37:g.151138954G>A	ENSP00000357901:p.Arg20Lys					LYSMD1_uc001ewy.2_5'Flank|LYSMD1_uc010pcr.1_5'Flank|SCNM1_uc010pcs.1_Missense_Mutation_p.R20K|SCNM1_uc009wmn.2_RNA	p.R20K	NM_024041	NP_076946	Q9BWG6	SCNM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	171	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		20			Bipartite nuclear localization signal (Potential).		B4DWR1|Q5JR74	Missense_Mutation	SNP	ENST00000368905.4	37	c.59G>A	CCDS987.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811854	0.90707	.	.	ENSG00000163156	ENST00000368905	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	M	0.74258	2.255	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.78460	-0.2195	9	0.87932	D	0	-5.686	18.6448	0.91407	0.0:0.0:1.0:0.0	.	20;20	B4DWR1;Q9BWG6	.;SCNM1_HUMAN	K	20	.	ENSP00000357901:R20K	R	+	2	0	SCNM1	149405578	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	5.969000	0.70422	2.698000	0.92095	0.455000	0.32223	AGA		0.527	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034064.2		NM_024041		9	61	0	0	0	0.09319	0	9	61		
HRNR	388697	broad.mit.edu	37	1	152188121	152188121	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:152188121G>T	ENST00000368801.2	-	3	6059	c.5984C>A	c.(5983-5985)tCt>tAt	p.S1995Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1995					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S1995Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGAGCGAGACTCTCGGTG	0.572																																						uc001ezt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(5983-5985)TCT>TAT		hornerin							16.0	23.0	21.0					1																	152188121		1526	3304	4830	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188121G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5984C>A	1.37:g.152188121G>T	ENSP00000357791:p.Ser1995Tyr						p.S1995Y	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6060	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1995			22.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.5984C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	4.945	0.175583	0.09391	.	.	ENSG00000197915	ENST00000368801	T	0.03413	3.94	3.67	0.32	0.15878	.	.	.	.	.	T	0.03136	0.0092	L	0.52573	1.65	0.09310	N	1	D	0.69078	0.997	D	0.64144	0.922	T	0.40001	-0.9586	9	0.40728	T	0.16	.	2.7398	0.05250	0.232:0.0:0.3744:0.3935	.	1995	Q86YZ3	HORN_HUMAN	Y	1995	ENSP00000357791:S1995Y	ENSP00000357791:S1995Y	S	-	2	0	HRNR	150454745	0.007000	0.16637	0.001000	0.08648	0.003000	0.03518	0.566000	0.23593	0.326000	0.23384	0.505000	0.49811	TCT		0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		22	404	1	0	5.43694e-19	0.080422	5.74601e-19	22	404		
GATAD2B	57459	broad.mit.edu	37	1	153800712	153800712	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:153800712C>T	ENST00000368655.4	-	2	355	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	38					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E38K(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCCATGGCCTCATGCCCCTCC	0.502																																						uc001fdb.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(112-114)GAG>AAG		GATA zinc finger domain containing 2B							178.0	162.0	167.0					1																	153800712		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153800712C>T	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.112G>A	1.37:g.153800712C>T	ENSP00000357644:p.Glu38Lys						p.E38K	NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	356	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		38					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.112G>A	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765084	0.90020	.	.	ENSG00000143614	ENST00000368655	T	0.41758	0.99	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	L	0.36672	1.1	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.18053	-1.0349	10	0.36615	T	0.2	-12.6449	19.3727	0.94495	0.0:1.0:0.0:0.0	.	38	Q8WXI9	P66B_HUMAN	K	38	ENSP00000357644:E38K	ENSP00000357644:E38K	E	-	1	0	GATAD2B	152067336	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.408000	0.80041	2.878000	0.98634	0.650000	0.86243	GAG		0.502	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1		NM_020699		200	330	0	0	0	0.048971	0	200	330		
DCST1	149095	broad.mit.edu	37	1	155020372	155020372	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:155020372C>G	ENST00000295542.1	+	15	1818	c.1722C>G	c.(1720-1722)ctC>ctG	p.L574L	DCST1_ENST00000368419.2_Silent_p.L574L|DCST1_ENST00000392480.1_Silent_p.L574L|DCST1_ENST00000423025.2_Silent_p.L549L|RP11-307C12.11_ENST00000452962.1_RNA	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	574						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.L574L(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GCTACCGACTCCGGAGGGTCA	0.607																																						uc001fgn.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1720-1722)CTC>CTG		DC-STAMP domain containing 1 isoform 1							111.0	118.0	116.0					1																	155020372		2203	4300	6503	SO:0001819	synonymous_variant	149095					integral to membrane	zinc ion binding	g.chr1:155020372C>G	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1722C>G	1.37:g.155020372C>G						DCST1_uc010pes.1_Silent_p.L549L|uc001fgo.2_Intron	p.L574L	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		15	1818	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		574			Helical; (Potential).		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Silent	SNP	ENST00000295542.1	37	c.1722C>G	CCDS1083.1																																																																																				0.607	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1		NM_152494		8	76	0	0	0	0.047766	0	8	76		
TRIM46	80128	broad.mit.edu	37	1	155152267	155152267	+	Missense_Mutation	SNP	G	G	A	rs376526448		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:155152267G>A	ENST00000334634.4	+	8	1445	c.1445G>A	c.(1444-1446)cGg>cAg	p.R482Q	TRIM46_ENST00000545012.1_Missense_Mutation_p.R356Q|TRIM46_ENST00000368385.4_Missense_Mutation_p.R482Q|TRIM46_ENST00000368382.1_Missense_Mutation_p.R459Q|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.R482Q|TRIM46_ENST00000543729.1_Missense_Mutation_p.G502S|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000392451.2_Missense_Mutation_p.G495S	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	482	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R482Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCTGGCAGCGGCGGGAGGAG	0.687																																						uc001fhs.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1444-1446)CGG>CAG		tripartite motif-containing 46		G	GLN/ARG	0,4404		0,0,2202	24.0	28.0	27.0		1445	3.5	1.0	1		27	2,8596	2.2+/-6.3	0,2,4297	no	missense	TRIM46	NM_025058.3	43	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	482/760	155152267	2,13000	2202	4299	6501	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155152267G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1445G>A	1.37:g.155152267G>A	ENSP00000334657:p.Arg482Gln					RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.R482Q|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.R356Q|TRIM46_uc001fhu.1_Missense_Mutation_p.R459Q|TRIM46_uc009wpg.1_Missense_Mutation_p.R469Q|TRIM46_uc001fhv.3_Missense_Mutation_p.R469Q|TRIM46_uc001fhw.1_RNA	p.R482Q	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	1528	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		482			Fibronectin type-III.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.1445G>A	CCDS1097.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.86|17.86	3.492611|3.492611	0.64074|0.64074	0.0|0.0	2.33E-4|2.33E-4	ENSG00000163462|ENSG00000163462	ENST00000543729;ENST00000392451|ENST00000430513;ENST00000368385;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T|T;T;T;T;T	0.46819|0.29655	0.91;0.86|1.56;1.56;1.56;1.56;1.56	3.55|3.55	3.55|3.55	0.40652|0.40652	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.32734|0.32734	0.0839|0.0839	L|L	0.56769|0.56769	1.78|1.78	0.43069|0.43069	D|D	0.994708|0.994708	.|D;D;B;D	.|0.71674	.|0.958;0.997;0.345;0.998	.|B;D;B;D	.|0.72982	.|0.32;0.953;0.056;0.979	T|T	0.14309|0.14309	-1.0477|-1.0477	7|10	0.87932|0.10377	D|T	0|0.69	.|.	13.0312|13.0312	0.58842|0.58842	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|482;459;482;482	.|Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.|.;.;TRI46_HUMAN;.	S|Q	502;495|440;482;356;482;459;482	ENSP00000442719:G502S;ENSP00000376245:G495S|ENSP00000357369:R482Q;ENSP00000440254:R356Q;ENSP00000357367:R482Q;ENSP00000357366:R459Q;ENSP00000334657:R482Q	ENSP00000376245:G495S|ENSP00000334657:R482Q	G|R	+|+	1|2	0|0	TRIM46|TRIM46	153418891|153418891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.653000|6.653000	0.74382|0.74382	2.011000|2.011000	0.59026|0.59026	0.462000|0.462000	0.41574|0.41574	GGC|CGG		0.687	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1		NM_025058		6	18	0	0	0	0.038147	0	6	18		
IQGAP3	128239	broad.mit.edu	37	1	156497752	156497752	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:156497752G>A	ENST00000361170.2	-	37	4784	c.4774C>T	c.(4774-4776)Cac>Tac	p.H1592Y	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1592					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.H1592Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTGATAGTGAAGCTGAAAT	0.527																																						uc001fpf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|skin(1)	6						c.(4774-4776)CAC>TAC		IQ motif containing GTPase activating protein 3							164.0	145.0	152.0					1																	156497752		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156497752G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4774C>T	1.37:g.156497752G>A	ENSP00000354451:p.His1592Tyr						p.H1592Y	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			37	4849	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1592					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.4774C>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190769	0.38707	.	.	ENSG00000183856	ENST00000361170	T	0.02631	4.22	4.71	2.81	0.32909	.	0.247939	0.40469	N	0.001100	T	0.01523	0.0049	M	0.64997	1.995	0.40442	D	0.980053	B	0.06786	0.001	B	0.04013	0.001	T	0.37033	-0.9723	10	0.48119	T	0.1	-10.0243	8.3113	0.32073	0.0838:0.0:0.7607:0.1555	.	1592	Q86VI3	IQGA3_HUMAN	Y	1592	ENSP00000354451:H1592Y	ENSP00000354451:H1592Y	H	-	1	0	IQGAP3	154764376	0.881000	0.30235	0.928000	0.36995	0.961000	0.63080	1.275000	0.33144	0.514000	0.28300	0.484000	0.47621	CAC		0.527	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1		NM_178229		50	51	0	0	0	0.048971	0	50	51		
DDR2	4921	broad.mit.edu	37	1	162725538	162725538	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:162725538A>G	ENST00000367922.3	+	8	1088	c.650A>G	c.(649-651)tAt>tGt	p.Y217C	DDR2_ENST00000367921.3_Missense_Mutation_p.Y217C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	217					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Y217C(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GATTCTGTCTATGATGGAGCT	0.403																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(649-651)TAT>TGT		discoidin domain receptor family, member 2							138.0	134.0	135.0					1																	162725538		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162725538A>G	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.650A>G	1.37:g.162725538A>G	ENSP00000356899:p.Tyr217Cys					DDR2_uc001gcg.2_Missense_Mutation_p.Y217C	p.Y217C	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		8	1115	+	all_hematologic(112;0.115)		217			Extracellular (Potential).		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.650A>G	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486530	0.84854	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.39592	1.07;1.07	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.65396	0.2687	M	0.89601	3.045	0.42120	D	0.991428	D	0.89917	1.0	D	0.87578	0.998	T	0.75082	-0.3443	9	0.87932	D	0	.	14.9996	0.71462	1.0:0.0:0.0:0.0	.	217	Q16832	DDR2_HUMAN	C	217	ENSP00000356899:Y217C;ENSP00000356898:Y217C	ENSP00000356898:Y217C	Y	+	2	0	DDR2	160992162	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.769000	0.91742	2.213000	0.71641	0.528000	0.53228	TAT		0.403	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2		NM_006182		35	28	0	0	0	0.080422	0	35	28		
TPR	7175	broad.mit.edu	37	1	186304579	186304579	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:186304579G>A	ENST00000367478.4	-	34	5098	c.4802C>T	c.(4801-4803)gCg>gTg	p.A1601V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1601					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.A1602V(1)|p.A1601V(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGACTTTAGCGCAGTAATGCG	0.423			T	NTRK1	papillary thyroid																																	uc001grv.2		NaN		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(4801-4803)GCG>GTG		nuclear pore complex-associated protein TPR							173.0	153.0	159.0					1																	186304579		1878	4116	5994	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186304579G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4802C>T	1.37:g.186304579G>A	ENSP00000356448:p.Ala1601Val						p.A1601V	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	34	5099	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1601			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.4802C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052035	0.93793	.	.	ENSG00000047410	ENST00000367478	T	0.27402	1.67	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.57844	0.2081	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.55711	-0.8098	10	0.33940	T	0.23	.	18.9661	0.92697	0.0:0.0:1.0:0.0	.	1601	P12270	TPR_HUMAN	V	1601	ENSP00000356448:A1601V	ENSP00000356448:A1601V	A	-	2	0	TPR	184571202	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.065000	0.93941	2.545000	0.85829	0.650000	0.86243	GCG		0.423	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2		NM_003292		6	31	0	0	0	0.021553	0	6	31		
SYT2	127833	broad.mit.edu	37	1	202571539	202571539	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:202571539C>T	ENST00000367267.1	-	5	792	c.600G>A	c.(598-600)ctG>ctA	p.L200L	SYT2_ENST00000367268.4_Silent_p.L200L|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	200	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.L200L(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	AGGCAGGGTTCAGTGTCTTCC	0.517																																						uc001gye.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(598-600)CTG>CTA		synaptotagmin II	Botulinum Toxin Type B(DB00042)						157.0	150.0	153.0					1																	202571539		2203	4300	6503	SO:0001819	synonymous_variant	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202571539C>T	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.600G>A	1.37:g.202571539C>T						SYT2_uc010pqb.1_Silent_p.L200L|SYT2_uc009xaf.2_Silent_p.L30L	p.L200L	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		5	793	-			200			Phospholipid binding (By similarity).|C2 1.|Cytoplasmic (Potential).		Q496K5|Q8NBE5	Silent	SNP	ENST00000367267.1	37	c.600G>A	CCDS1427.1																																																																																				0.517	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1		NM_177402		159	79	0	0	0	0.048971	0	159	79		
CENPF	1063	broad.mit.edu	37	1	214794110	214794110	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:214794110C>T	ENST00000366955.3	+	6	854	c.686C>T	c.(685-687)tCa>tTa	p.S229L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.S229L(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGTCATCTTTCATCTAATTCT	0.458																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(685-687)TCA>TTA		centromere protein F							109.0	121.0	117.0					1																	214794110		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214794110C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.686C>T	1.37:g.214794110C>T	ENSP00000355922:p.Ser229Leu						p.S229L	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	6	860	+			229			Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.686C>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486375	0.84854	.	.	ENSG00000117724	ENST00000366955	T	0.27104	1.69	6.0	5.07	0.68467	Centromere protein Cenp-F, N-terminal (1);	0.275863	0.19617	N	0.109992	T	0.52468	0.1736	.	.	.	0.36357	D	0.860435	D	0.64830	0.994	D	0.64506	0.926	T	0.66048	-0.6020	9	0.72032	D	0.01	.	17.0563	0.86534	0.0:0.8729:0.1271:0.0	.	229	P49454	CENPF_HUMAN	L	229	ENSP00000355922:S229L	ENSP00000355922:S229L	S	+	2	0	CENPF	212860733	0.580000	0.26733	0.035000	0.18076	0.874000	0.50279	2.003000	0.40844	1.483000	0.48342	0.603000	0.83216	TCA		0.458	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1		NM_016343		67	36	0	0	0	0.048971	0	67	36		
HHIPL2	79802	broad.mit.edu	37	1	222713588	222713588	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:222713588G>T	ENST00000343410.6	-	4	1272	c.1214C>A	c.(1213-1215)tCt>tAt	p.S405Y		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	405					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.S405Y(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCCTGGCTCAGAAACAAATGG	0.587																																						uc001hnh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1213-1215)TCT>TAT		HHIP-like 2 precursor							70.0	68.0	68.0					1																	222713588		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222713588G>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1214C>A	1.37:g.222713588G>T	ENSP00000342118:p.Ser405Tyr						p.S405Y	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	4	1272	-			405					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.1214C>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866995	0.51588	.	.	ENSG00000143512	ENST00000343410	T	0.14766	2.48	5.12	4.21	0.49690	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.593348	0.18417	N	0.141864	T	0.30417	0.0764	M	0.81497	2.545	0.09310	N	1	P	0.48407	0.91	P	0.52267	0.694	T	0.10520	-1.0626	10	0.51188	T	0.08	-5.475	13.0823	0.59121	0.0786:0.0:0.9214:0.0	.	405	Q6UWX4	HIPL2_HUMAN	Y	405	ENSP00000342118:S405Y	ENSP00000342118:S405Y	S	-	2	0	HHIPL2	220780211	0.000000	0.05858	0.248000	0.24265	0.941000	0.58515	0.891000	0.28309	1.134000	0.42165	0.491000	0.48974	TCT		0.587	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2		NM_024746		77	35	1	0	1.00246e-47	0.048971	1.07332e-47	77	35		
ZP4	57829	broad.mit.edu	37	1	238048519	238048519	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:238048519G>A	ENST00000366570.4	-	9	1415	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	419	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.I419I(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAAGGTGAAGATGCTGAAGC	0.547																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1255-1257)ATC>ATT		zona pellucida glycoprotein 4 preproprotein							94.0	95.0	94.0					1																	238048519		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238048519G>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1257C>T	1.37:g.238048519G>A						LOC100130331_uc010pyc.1_Intron	p.I419I	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		9	1257	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	419			ZP.|Extracellular (Potential).		B2RAE1	Silent	SNP	ENST00000366570.4	37	c.1257C>T	CCDS1615.1																																																																																				0.547	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1				42	18	0	0	0	0.11126	0	42	18		
ZNF670	93474	broad.mit.edu	37	1	247200919	247200919	+	Silent	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:247200919C>A	ENST00000366503.2	-	4	1160	c.1002G>T	c.(1000-1002)gtG>gtT	p.V334V		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	334					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V334V(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CATAAGGTTTCACTCCAGTGT	0.408																																						uc001icd.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1000-1002)GTG>GTT		zinc finger protein 670							123.0	123.0	123.0					1																	247200919		2203	4300	6503	SO:0001819	synonymous_variant	93474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247200919C>A		CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.1002G>T	1.37:g.247200919C>A						ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	p.V334V	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	1173	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	334						Silent	SNP	ENST00000366503.2	37	c.1002G>T	CCDS31087.1																																																																																				0.408	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3		NM_033213		93	126	1	0	1.79992e-35	0.048971	1.9171e-35	93	126		
OR2G6	391211	broad.mit.edu	37	1	248685406	248685406	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:248685406C>T	ENST00000343414.4	+	1	491	c.459C>T	c.(457-459)ctC>ctT	p.L153L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L153L(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGCGGCCTCATCACCTCCC	0.572																																						uc001ien.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(457-459)CTC>CTT		olfactory receptor, family 2, subfamily G,							79.0	63.0	68.0					1																	248685406		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685406C>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.459C>T	1.37:g.248685406C>T							p.L153L	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	459	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	153			Helical; Name=4; (Potential).		B2RP33	Silent	SNP	ENST00000343414.4	37	c.459C>T	CCDS31119.1																																																																																				0.572	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1		XM_372842		23	16	0	0	0	0.076483	0	23	16		
ADARB2	105	broad.mit.edu	37	10	1405328	1405328	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:1405328C>G	ENST00000381312.1	-	3	1297	c.972G>C	c.(970-972)aaG>aaC	p.K324N	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	324	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.K324N(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GGGCCAGCTTCTTGCTGCGCC	0.721																																						uc009xhq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|central_nervous_system(1)	3						c.(970-972)AAG>AAC		adenosine deaminase, RNA-specific, B2							7.0	7.0	7.0					10																	1405328		2070	4114	6184	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405328C>G	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.972G>C	10.37:g.1405328C>G	ENSP00000370713:p.Lys324Asn						p.K324N	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	1346	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	324			DRBM 2.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.972G>C	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158068	0.94686	.	.	ENSG00000185736	ENST00000381312	D	0.88046	-2.33	5.24	5.24	0.73138	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.092825	0.64402	D	0.000001	D	0.96358	0.8812	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97998	1.0358	10	0.87932	D	0	-43.8987	18.8514	0.92232	0.0:1.0:0.0:0.0	.	324	Q9NS39	RED2_HUMAN	N	324	ENSP00000370713:K324N	ENSP00000370713:K324N	K	-	3	2	ADARB2	1395328	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.945000	0.70226	2.445000	0.82738	0.561000	0.74099	AAG		0.721	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1		NM_018702		9	12	0	0	0	0.058154	0	9	12		
KIAA1217	56243	broad.mit.edu	37	10	24833013	24833013	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:24833013A>C	ENST00000376454.3	+	19	4844	c.4814A>C	c.(4813-4815)tAt>tCt	p.Y1605S	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.Y1288S|KIAA1217_ENST00000396446.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1605					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.Y1605S(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTGGTAGTCTATGAAGAAGAG	0.468																																						uc001iru.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|skin(2)	7						c.(4813-4815)TAT>TCT		sickle tail isoform 1							105.0	106.0	106.0					10																	24833013		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24833013A>C	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4814A>C	10.37:g.24833013A>C	ENSP00000365637:p.Tyr1605Ser					KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.Y1288S|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.Y441S	p.Y1605S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			19	5217	+			1605					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.4814A>C	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669242	0.47677	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	T;T	0.39997	1.48;1.05	5.35	5.35	0.76521	.	0.148518	0.46145	D	0.000310	T	0.60907	0.2305	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.57429	-0.7813	10	0.20519	T	0.43	.	15.3103	0.74026	1.0:0.0:0.0:0.0	.	1288;1288;1605	C9JRK3;Q5T5P2-3;Q5T5P2	.;.;SKT_HUMAN	S	1288;1605;1288;1288	ENSP00000365637:Y1605S;ENSP00000365634:Y1288S	ENSP00000365634:Y1288S	Y	+	2	0	KIAA1217	24873019	1.000000	0.71417	0.978000	0.43139	0.051000	0.14879	8.897000	0.92532	2.018000	0.59344	0.459000	0.35465	TAT		0.468	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2		NM_019590		40	80	0	0	0	0.039052	0	40	80		
GPR158	57512	broad.mit.edu	37	10	25886754	25886754	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:25886754G>T	ENST00000376351.3	+	11	2558	c.2199G>T	c.(2197-2199)atG>atT	p.M733I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	733					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.M733I(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAAAGAAGATGATCACAAACA	0.448																																						uc001isj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2197-2199)ATG>ATT		G protein-coupled receptor 158 precursor							97.0	111.0	106.0					10																	25886754		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886754G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2199G>T	10.37:g.25886754G>T	ENSP00000365529:p.Met733Ile					GPR158_uc001isk.2_Missense_Mutation_p.M108I	p.M733I	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2259	+			733			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2199G>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862854	0.71949	.	.	ENSG00000151025	ENST00000376351	T	0.67865	-0.29	5.54	5.54	0.83059	.	0.132073	0.51477	D	0.000083	T	0.81074	0.4747	M	0.62088	1.915	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81420	-0.0941	10	0.59425	D	0.04	.	19.4771	0.94994	0.0:0.0:1.0:0.0	.	733	Q5T848	GP158_HUMAN	I	733	ENSP00000365529:M733I	ENSP00000365529:M733I	M	+	3	0	GPR158	25926760	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	9.476000	0.97823	2.606000	0.88127	0.650000	0.86243	ATG		0.448	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2		XM_166110		14	31	1	0	0.000151284	0.105934	0.000153157	14	31		
EPC1	80314	broad.mit.edu	37	10	32635714	32635714	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:32635714C>T	ENST00000263062.8	-	1	399	c.130G>A	c.(130-132)Gga>Aga	p.G44R	EPC1_ENST00000319778.6_Missense_Mutation_p.G44R|EPC1_ENST00000480402.1_5'UTR|EPC1_ENST00000375110.2_Intron|RP11-135A24.4_ENST00000412085.1_RNA|AL391839.1_ENST00000410377.1_RNA|RP11-135A24.2_ENST00000417447.1_RNA	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	44					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)		p.G44R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TTCTCCATTCCGGTGGGCATC	0.647											OREG0020115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001iwg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)	4						c.(130-132)GGA>AGA		enhancer of polycomb 1							91.0	80.0	84.0					10																	32635714		2203	4300	6503	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32635714C>T	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.130G>A	10.37:g.32635714C>T	ENSP00000263062:p.Gly44Arg		OREG0020115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	833	EPC1_uc001iwi.3_Intron|EPC1_uc009xlt.2_Intron|EPC1_uc001iwh.1_Missense_Mutation_p.G44R	p.G44R	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN			1	400	-		Prostate(175;0.0199)	44					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.130G>A	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813080	0.90707	.	.	ENSG00000120616	ENST00000319778;ENST00000263062	T;T	0.53423	0.62;0.62	5.07	4.15	0.48705	Enhancer of polycomb-like, N-terminal (1);	0.112993	0.64402	D	0.000011	T	0.72724	0.3496	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78755	-0.2080	10	0.66056	D	0.02	-3.336	14.5313	0.67929	0.0:0.8525:0.1475:0.0	.	44;44	Q9H2F5-2;Q9H2F5	.;EPC1_HUMAN	R	44	ENSP00000318559:G44R;ENSP00000263062:G44R	ENSP00000263062:G44R	G	-	1	0	EPC1	32675720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.755000	0.74914	1.110000	0.41699	0.609000	0.83330	GGA		0.647	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1				38	79	0	0	0	0.092188	0	38	79		
FAM21C	253725	broad.mit.edu	37	10	46250443	46250443	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:46250443G>C	ENST00000336378.4	+	15	1418	c.1300G>C	c.(1300-1302)Gag>Cag	p.E434Q	FAM21C_ENST00000359860.4_Missense_Mutation_p.E378Q|FAM21C_ENST00000374362.2_Missense_Mutation_p.E434Q|FAM21C_ENST00000537517.1_Missense_Mutation_p.E410Q|FAM21C_ENST00000540872.1_Missense_Mutation_p.E434Q	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	434					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.E433Q(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ACAGAAGCCTGAGCAGCCCAC	0.552																																						uc001jcu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1300-1302)GAG>CAG		hypothetical protein LOC253725							42.0	46.0	45.0					10																	46250443		1906	4119	6025	SO:0001583	missense	253725							g.chr10:46250443G>C		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1300G>C	10.37:g.46250443G>C	ENSP00000337541:p.Glu434Gln					FAM21C_uc001jcs.1_Missense_Mutation_p.E379Q|FAM21C_uc001jct.2_Missense_Mutation_p.E434Q|FAM21C_uc010qfi.1_Missense_Mutation_p.E410Q|FAM21C_uc010qfj.1_5'UTR|FAM21C_uc010qfk.1_5'Flank	p.E434Q	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN			15	1399	+			434					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.1300G>C		.	.	.	.	.	.	.	.	.	.	G	4.546	0.101355	0.08731	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.23	-0.209	0.13180	.	1.256810	0.05015	N	0.471693	T	0.43456	0.1248	M	0.70595	2.14	0.09310	N	1	B;B;B;B	0.23377	0.084;0.051;0.051;0.024	B;B;B;B	0.19391	0.025;0.017;0.017;0.016	T	0.22034	-1.0228	9	0.21540	T	0.41	-4.988	4.744	0.13028	0.138:0.4467:0.4153:0.0	.	410;434;434;379	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	Q	434;434;410;434;434;378;346	.	ENSP00000337541:E434Q	E	+	1	0	FAM21C	45570449	0.014000	0.17966	0.871000	0.34182	0.680000	0.39746	0.183000	0.16919	0.177000	0.19895	0.603000	0.83216	GAG		0.552	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding					8	25	0	0	0	0.024245	0	8	25		
ANK3	288	broad.mit.edu	37	10	61830487	61830487	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:61830487C>G	ENST00000280772.2	-	37	10343	c.10152G>C	c.(10150-10152)caG>caC	p.Q3384H	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3384					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.Q3384H(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTTCCCATTCTGGGCAATTT	0.463																																						uc001jky.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(10150-10152)CAG>CAC		ankyrin 3 isoform 1							152.0	143.0	146.0					10																	61830487		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61830487C>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10152G>C	10.37:g.61830487C>G	ENSP00000280772:p.Gln3384His					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.Q3384H	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	10344	-			3384					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.10152G>C	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902716	0.52227	.	.	ENSG00000151150	ENST00000280772	T	0.73897	-0.79	5.48	4.57	0.56435	.	0.000000	0.39985	N	0.001212	T	0.75488	0.3856	L	0.46157	1.445	0.80722	D	1	D	0.61697	0.99	P	0.56865	0.808	T	0.76000	-0.3119	10	0.62326	D	0.03	.	7.0391	0.25010	0.0:0.7032:0.0:0.2968	.	3384	Q12955	ANK3_HUMAN	H	3384	ENSP00000280772:Q3384H	ENSP00000280772:Q3384H	Q	-	3	2	ANK3	61500493	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.944000	0.56629	1.291000	0.44653	0.561000	0.74099	CAG		0.463	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987		13	41	0	0	0	0.020292	0	13	41		
ZNF518A	9849	broad.mit.edu	37	10	97919969	97919969	+	RNA	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:97919969G>C	ENST00000534948.1	+	0	4747							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R1297T(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ACATTGCATAGAAAGTGTAAA	0.383																																						uc001klp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(3889-3891)AGA>ACA		zinc finger protein 518							40.0	39.0	39.0					10																	97919969		1844	4084	5928			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97919969G>C	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97919969G>C						ZNF518A_uc001klo.1_Missense_Mutation_p.R767T|ZNF518A_uc001klq.2_Missense_Mutation_p.R1297T|ZNF518A_uc001klr.2_Missense_Mutation_p.R1297T	p.R1297T	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	6	4747	+		Colorectal(252;0.0815)	1297					A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37	c.3890G>C																																																																																					0.383	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript			NM_014803		3	6	0	0	0	0.009096	0	3	6		
MUC5AC	4586	broad.mit.edu	37	11	1155713	1155713	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:1155713G>C	ENST00000356191.2	+	5	399	c.399G>C	c.(397-399)gaG>gaC	p.E133D				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	28	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.S134T(1)		NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CCCACGCTGAGCAGGGTCCTC	0.637																																						uc009ycr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(400-402)AGC>ACC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							28.0	29.0	29.0					11																	1155713		873	1989	2862	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1155713G>C	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.399G>C	11.37:g.1155713G>C	ENSP00000348519:p.Glu133Asp						p.S134T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	5	527	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.401G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.310|5.310	0.242627|0.242627	0.10077|0.10077	.|.	.|.	ENSG00000215182|ENSG00000215182	ENST00000356191|ENST00000534821	T|T	0.19806|0.60171	2.12|0.21	3.33|3.33	1.38|1.38	0.22167|0.22167	.|.	.|.	.|.	.|.	.|.	T|T	0.33789|0.33789	0.0875|0.0875	N|N	0.10664|0.10664	0.02|0.02	.|.	.|.	.|.	.|P	.|0.38551	.|0.636	.|B	.|0.42995	.|0.404	T|T	0.32798|0.32798	-0.9893|-0.9893	6|8	0.49607|0.17369	T|T	0.09|0.5	.|.	3.9682|3.9682	0.09441|0.09441	0.093:0.3183:0.4441:0.1446|0.093:0.3183:0.4441:0.1446	.|.	.|134	.|A7Y9J9	.|.	D|T	133|134	ENSP00000348519:E133D|ENSP00000435591:S134T	ENSP00000348519:E133D|ENSP00000435591:S134T	E|S	+|+	3|2	2|0	MUC5AC|MUC5AC	1145713|1145713	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.006000|0.006000	0.05464|0.05464	-0.712000|-0.712000	0.05013|0.05013	0.227000|0.227000	0.20999|0.20999	0.437000|0.437000	0.28790|0.28790	GAG|AGC		0.637	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_001130382		12	14	0	0	0	0.105934	0	12	14		
Unknown	0	broad.mit.edu	37	11	5988888	5988888	+	IGR	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:5988888G>C								OR56A3 (19297 upstream) : OR52L1 (18233 downstream)																							GCAGGATGTTGAGCAGGATGG	0.527																																						uc010qzu.1		NaN																	0					0						c.(835-837)CTC>CTG		olfactory receptor, family 56, subfamily A,							145.0	137.0	140.0					11																	5988888		692	1591	2283	SO:0001628	intergenic_variant	390084					integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5988888G>C																													11.37:g.5988888G>C							p.L279L	NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN			1	837	-			279			Helical; Name=7; (Potential).			Silent	SNP		37	c.837C>G																																																																																				0	0.527										4	11	0	0	0	0.009096	0	4	11		
CCDC73	493860	broad.mit.edu	37	11	32624470	32624470	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:32624470G>C	ENST00000335185.5	-	18	3170	c.3127C>G	c.(3127-3129)Ctc>Gtc	p.L1043V	EIF3M_ENST00000531120.1_3'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	1043								p.L1043V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCGTAATGAGGCTCTGCCAG	0.368																																						uc001mtv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(3127-3129)CTC>GTC		sarcoma antigen NY-SAR-79							146.0	125.0	131.0					11																	32624470		1818	4079	5897	SO:0001583	missense	493860							g.chr11:32624470G>C	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.3127C>G	11.37:g.32624470G>C	ENSP00000335325:p.Leu1043Val						p.L1043V	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			18	3171	-	Breast(20;0.112)		1043					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.3127C>G	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423846	0.25639	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.12	2.21	0.28008	.	0.346417	0.20728	N	0.086771	T	0.38772	0.1053	L	0.56769	1.78	0.09310	N	1	D	0.59767	0.986	P	0.52066	0.689	T	0.19877	-1.0292	9	0.56958	D	0.05	.	4.0923	0.09975	0.3257:0.0:0.5184:0.1559	.	1043	Q6ZRK6	CCD73_HUMAN	V	1043	.	ENSP00000335325:L1043V	L	-	1	0	CCDC73	32581046	0.020000	0.18652	0.076000	0.20297	0.076000	0.17211	0.759000	0.26461	0.757000	0.33036	0.591000	0.81541	CTC		0.368	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2		NM_001008391		48	38	0	0	0	0.048971	0	48	38		
NUP160	23279	broad.mit.edu	37	11	47806511	47806511	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:47806511C>G	ENST00000378460.2	-	33	3999	c.3953G>C	c.(3952-3954)gGa>gCa	p.G1318A	NUP160_ENST00000530326.1_Missense_Mutation_p.G1204A	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1318					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.G1318A(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CAGAGGCACTCCATGAGACAA	0.398																																						uc001ngm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(3952-3954)GGA>GCA		nucleoporin 160kDa							170.0	157.0	161.0					11																	47806511		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47806511C>G	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3953G>C	11.37:g.47806511C>G	ENSP00000367721:p.Gly1318Ala					NUP160_uc009ylw.2_RNA	p.G1318A	NM_015231	NP_056046	Q12769	NU160_HUMAN			33	4038	-			1318					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.3953G>C	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020699	0.93462	.	.	ENSG00000030066	ENST00000378460;ENST00000530326	T;T	0.47528	1.42;0.84	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.67192	0.2867	M	0.72894	2.215	0.80722	D	1	D	0.69078	0.997	D	0.63283	0.913	T	0.67177	-0.5736	10	0.46703	T	0.11	.	19.2681	0.93997	0.0:1.0:0.0:0.0	.	1318	Q12769	NU160_HUMAN	A	1318;1204	ENSP00000367721:G1318A;ENSP00000433590:G1204A	ENSP00000367721:G1318A	G	-	2	0	NUP160	47763087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.073000	0.76784	2.557000	0.86248	0.585000	0.79938	GGA		0.398	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2		NM_015231		75	54	0	0	0	0.048971	0	75	54		
OR4A47	403253	broad.mit.edu	37	11	48511051	48511051	+	Nonsense_Mutation	SNP	C	C	G	rs371979204		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:48511051C>G	ENST00000446524.1	+	1	783	c.707C>G	c.(706-708)tCa>tGa	p.S236*		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S236*(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AAAGCCCTCTCAACCTGCAGT	0.433																																						uc010rhx.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(706-708)TCA>TGA		olfactory receptor, family 4, subfamily A,							150.0	145.0	147.0					11																	48511051		2201	4298	6499	SO:0001587	stop_gained	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511051C>G	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.707C>G	11.37:g.48511051C>G	ENSP00000412752:p.Ser236*						p.S236*	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	707	+			236			Helical; Name=6; (Potential).			Nonsense_Mutation	SNP	ENST00000446524.1	37	c.707C>G	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	10.28	1.307205	0.23821	.	.	ENSG00000237388	ENST00000446524	.	.	.	4.59	1.4	0.22301	.	0.553031	0.16377	N	0.217096	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.1691	0.20406	0.3984:0.5025:0.0:0.0991	.	.	.	.	X	236	.	ENSP00000412752:S236X	S	+	2	0	OR4A47	48467627	0.000000	0.05858	0.046000	0.18839	0.238000	0.25445	-0.550000	0.06034	-0.028000	0.13850	0.205000	0.17691	TCA		0.433	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1		NM_001005512		14	27	0	0	0	0.105934	0	14	27		
FOLH1	2346	broad.mit.edu	37	11	49176030	49176030	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:49176030G>A	ENST00000256999.2	-	16	1898	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	FOLH1_ENST00000343844.4_Silent_p.F238F|FOLH1_ENST00000356696.3_Silent_p.F546F|FOLH1_ENST00000340334.7_Silent_p.F531F|FOLH1_ENST00000533034.1_Silent_p.F531F	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	546	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.F546F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GATAGCCGCTGAATTTGTTTG	0.333																																						uc001ngy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1636-1638)TTC>TTT		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						40.0	28.0	32.0					11																	49176030		2199	4290	6489	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49176030G>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1638C>T	11.37:g.49176030G>A						FOLH1_uc001ngx.2_5'UTR|FOLH1_uc001ngz.2_Silent_p.F546F|FOLH1_uc009yly.2_Silent_p.F531F|FOLH1_uc009ylz.2_Silent_p.F531F|FOLH1_uc009yma.2_Silent_p.F238F	p.F546F	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			16	1899	-			546			NAALADase.|Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.1638C>T	CCDS7946.1																																																																																				0.333	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1		NM_004476		3	21	0	0	0	0.009096	0	3	21		
OR4C6	219432	broad.mit.edu	37	11	55433450	55433450	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:55433450G>T	ENST00000314259.3	+	1	837	c.808G>T	c.(808-810)Gct>Tct	p.A270S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A270S(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CAAGGCAATGGCTGTGTCAGA	0.463																																						uc001nht.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(808-810)GCT>TCT		olfactory receptor, family 4, subfamily C,							102.0	99.0	100.0					11																	55433450		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433450G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.808G>T	11.37:g.55433450G>T	ENSP00000324769:p.Ala270Ser					OR4C6_uc010rik.1_Missense_Mutation_p.A270S	p.A270S	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	1073	+			270			Helical; Name=7; (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.808G>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	7.687	0.690215	0.15039	.	.	ENSG00000181903	ENST00000314259	T	0.00027	8.93	4.07	-0.0451	0.13853	GPCR, rhodopsin-like superfamily (1);	0.705290	0.11671	N	0.540852	T	0.00073	0.0002	N	0.20328	0.56	0.09310	N	1	B	0.12013	0.005	B	0.24974	0.057	T	0.04537	-1.0944	10	0.35671	T	0.21	.	3.5178	0.07731	0.3691:0.0:0.3822:0.2487	.	270	Q8NH72	OR4C6_HUMAN	S	270	ENSP00000324769:A270S	ENSP00000324769:A270S	A	+	1	0	OR4C6	55190026	0.000000	0.05858	0.144000	0.22314	0.529000	0.34654	-0.279000	0.08479	-0.348000	0.08286	-0.283000	0.09986	GCT		0.463	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1		NM_001004704		15	9	1	0	1.3612e-06	0.024245	1.39183e-06	15	9		
SLC43A3	29015	broad.mit.edu	37	11	57193532	57193532	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:57193532C>T	ENST00000395123.2	-	3	418	c.114G>A	c.(112-114)aaG>aaA	p.K38K	SLC43A3_ENST00000529554.1_Silent_p.K38K|SLC43A3_ENST00000352187.1_Silent_p.K38K|SLC43A3_ENST00000533524.1_Silent_p.K38K|SLC43A3_ENST00000395124.1_Silent_p.K38K|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	38					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.K38K(2)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						AATCTTCATTCTTGAAGACAA	0.552																																						uc001nkg.2		NaN																	2	Substitution - coding silent(2)	p.K38K(1)	urinary_tract(1)|central_nervous_system(1)	central_nervous_system(1)	1						c.(112-114)AAG>AAA		solute carrier family 43, member 3							95.0	91.0	92.0					11																	57193532		2201	4296	6497	SO:0001819	synonymous_variant	29015				transmembrane transport	integral to membrane		g.chr11:57193532C>T	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.114G>A	11.37:g.57193532C>T						PRG2_uc001nke.2_5'Flank|SLC43A3_uc001nkh.2_Silent_p.K38K|SLC43A3_uc010rjr.1_Silent_p.K38K|SLC43A3_uc009yme.2_Silent_p.K38K|SLC43A3_uc001nki.2_Silent_p.K38K|SLC43A3_uc009ymf.1_Silent_p.K38K|SLC43A3_uc010rjs.1_Silent_p.K38K|SLC43A3_uc009ymg.1_Silent_p.K38K	p.K38K	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN			3	524	-			38					B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	c.114G>A	CCDS7956.1																																																																																				0.552	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1		NM_017611		61	56	0	0	0	0.048971	0	61	56		
OR4D6	219983	broad.mit.edu	37	11	59224919	59224919	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:59224919G>A	ENST00000300127.2	+	1	509	c.486G>A	c.(484-486)ctG>ctA	p.L162L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L162L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						AGGTAATTCTGATGCTTCCAT	0.517																																						uc010rku.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(484-486)CTG>CTA		olfactory receptor, family 4, subfamily D,							260.0	228.0	239.0					11																	59224919		2201	4295	6496	SO:0001819	synonymous_variant	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224919G>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.486G>A	11.37:g.59224919G>A							p.L162L	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	486	+			162			Extracellular (Potential).		B2RNP7|Q6IFF5|Q96R74	Silent	SNP	ENST00000300127.2	37	c.486G>A	CCDS31562.1																																																																																				0.517	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1		NM_001004708		44	78	0	0	0	0.09836	0	44	78		
C11orf85	283129	broad.mit.edu	37	11	64708119	64708119	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:64708119C>G	ENST00000301896.5	-	9	547		c.e9-1		C11orf85_ENST00000530444.1_Splice_Site|C11orf85_ENST00000432175.1_Splice_Site|C11orf85_ENST00000536065.1_Splice_Site	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85									p.?(1)		breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TTTCCCTATTCTGTTAAAAAG	0.413																																						uc001ocb.1		NaN																	1	Unknown(1)		urinary_tract(1)		0						c.e8-1		hypothetical protein LOC283129							119.0	106.0	110.0					11																	64708119		2201	4297	6498	SO:0001630	splice_region_variant	283129							g.chr11:64708119C>G	AK093130, BC033501	CCDS31603.1, CCDS73316.1	11q13.1	2012-08-10			ENSG00000168070	ENSG00000168070			27441	protein-coding gene	gene with protein product						14702039	Standard	XM_005273918		Approved		uc001ocb.1	Q3KP22		ENST00000301896.5:c.474-1G>C	11.37:g.64708119C>G						C11orf85_uc001occ.1_Splice_Site|C11orf85_uc001ocd.1_Splice_Site_p.N102_splice	p.R158_splice	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN			8	548	-								B3KS99	Splice_Site	SNP	ENST00000301896.5	37	c.474_splice	CCDS31603.1	.	.	.	.	.	.	.	.	.	.	C	2.666	-0.278746	0.05679	.	.	ENSG00000168070	ENST00000530444;ENST00000536065;ENST00000301896;ENST00000432175	.	.	.	4.91	3.02	0.34903	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4454	0.21873	0.0:0.7868:0.0:0.2132	.	.	.	.	.	-1	.	.	.	-	.	.	C11orf85	64464695	0.992000	0.36948	0.999000	0.59377	0.045000	0.14185	0.705000	0.25675	1.364000	0.46038	0.650000	0.86243	.		0.413	C11orf85-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385477.1		NM_001037225	Intron	64	59	0	0	0	0.048971	0	64	59		
SUV420H1	51111	broad.mit.edu	37	11	67926623	67926623	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:67926623G>T	ENST00000304363.4	-	11	1543	c.1190C>A	c.(1189-1191)tCt>tAt	p.S397Y		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	397					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.S397Y(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GCCAACTGAAGATTTTCGGTT	0.403																																						uc001onm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|kidney(1)	3						c.(1189-1191)TCT>TAT		suppressor of variegation 4-20 homolog 1 isoform							116.0	113.0	114.0					11																	67926623		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67926623G>T	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1190C>A	11.37:g.67926623G>T	ENSP00000305899:p.Ser397Tyr					SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.S225Y|SUV420H1_uc009ysf.2_Missense_Mutation_p.S157Y	p.S397Y	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	1446	-			397					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.1190C>A	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666768	0.88251	.	.	ENSG00000110066	ENST00000304363	T	0.50001	0.76	5.55	5.55	0.83447	.	0.301125	0.37955	N	0.001865	T	0.50377	0.1612	L	0.29908	0.895	0.80722	D	1	D	0.56521	0.976	P	0.51016	0.656	T	0.52102	-0.8620	10	0.72032	D	0.01	-20.3777	19.7069	0.96076	0.0:0.0:1.0:0.0	.	397	Q4FZB7	SV421_HUMAN	Y	397	ENSP00000305899:S397Y	ENSP00000305899:S397Y	S	-	2	0	SUV420H1	67683199	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.898000	0.92538	2.894000	0.99253	0.591000	0.81541	TCT		0.403	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1		NM_017635		21	51	1	0	2.89027e-11	0.069288	3.00794e-11	21	51		
FOLH1B	219595	broad.mit.edu	37	11	89424064	89424064	+	RNA	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:89424064C>T	ENST00000532352.1	+	0	1527							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.F238F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CAAACAAATTCAGCGGCTATC	0.328																																						uc001pda.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(712-714)TTC>TTT		folate hydrolase 1B							56.0	64.0	62.0					11																	89424064		2201	4297	6498			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424064C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424064C>T							p.F238F	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			11	1240	+			238						Silent	SNP	ENST00000532352.1	37	c.714C>T																																																																																					0.328	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1		NM_153696		3	31	0	0	0	0.021553	0	3	31		
AMOTL1	154810	broad.mit.edu	37	11	94533316	94533316	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:94533316G>A	ENST00000433060.2	+	3	1101	c.960G>A	c.(958-960)atG>atA	p.M320I	AMOTL1_ENST00000317829.8_Missense_Mutation_p.M270I|AMOTL1_ENST00000317837.9_Missense_Mutation_p.M320I	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	320					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.M320fs*36(1)|p.M320I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCAAGCAAATGATGTCCCCAG	0.602																																						uc001pfb.2		NaN																	2	Substitution - Missense(1)|Deletion - Frameshift(1)		urinary_tract(1)|autonomic_ganglia(1)	ovary(1)|breast(1)	2						c.(958-960)ATG>ATA		angiomotin like 1							122.0	122.0	122.0					11																	94533316		1976	4166	6142	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94533316G>A	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.960G>A	11.37:g.94533316G>A	ENSP00000387739:p.Met320Ile					AMOTL1_uc001pfc.2_Missense_Mutation_p.M270I	p.M320I	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			3	1130	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	320					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.960G>A	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	4.489	0.090639	0.08632	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.13420	2.59;2.59;2.59	5.13	2.22	0.28083	.	0.613964	0.17353	N	0.177335	T	0.07324	0.0185	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39522	-0.9610	9	.	.	.	-8.867	5.5438	0.17053	0.2955:0.1338:0.5707:0.0	.	270;320	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	I	270;326;320;320	ENSP00000320968:M270I;ENSP00000323474:M320I;ENSP00000387739:M320I	.	M	+	3	0	AMOTL1	94172964	0.167000	0.22975	0.299000	0.25016	0.992000	0.81027	0.689000	0.25437	0.190000	0.20209	0.555000	0.69702	ATG		0.602	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3		NM_130847		45	106	0	0	0	0.039052	0	45	106		
TRPC6	7225	broad.mit.edu	37	11	101375138	101375138	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:101375138C>G	ENST00000344327.3	-	2	986	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	TRPC6_ENST00000360497.4_Missense_Mutation_p.E188Q|TRPC6_ENST00000348423.4_Missense_Mutation_p.E188Q|TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000532133.1_Missense_Mutation_p.E188Q	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	188					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.E188Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTCTTGCCTTCAGCAAAAGCC	0.458																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(562-564)GAA>CAA		transient receptor potential cation channel,							93.0	88.0	90.0					11																	101375138		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101375138C>G	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.562G>C	11.37:g.101375138C>G	ENSP00000340913:p.Glu188Gln					TRPC6_uc009ywy.2_Missense_Mutation_p.E188Q|TRPC6_uc009ywz.1_Missense_Mutation_p.E188Q	p.E188Q	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	987	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	188			Cytoplasmic (Potential).|ANK 3.		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.562G>C	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475196	0.43942	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.79749	-1.1;-1.17;-1.0;-1.3	5.84	5.84	0.93424	Ankyrin repeat-containing domain (2);	0.043249	0.85682	D	0.000000	D	0.83321	0.5229	L	0.41961	1.31	0.58432	D	0.999999	P;B;P	0.52842	0.956;0.12;0.927	P;B;P	0.55667	0.781;0.061;0.761	T	0.77960	-0.2391	10	0.18276	T	0.48	-18.0364	20.1438	0.98071	0.0:1.0:0.0:0.0	.	188;188;188	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	Q	188	ENSP00000340913:E188Q;ENSP00000435574:E188Q;ENSP00000343672:E188Q;ENSP00000353687:E188Q	ENSP00000340913:E188Q	E	-	1	0	TRPC6	100880348	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.066000	0.71185	2.768000	0.95171	0.650000	0.86243	GAA		0.458	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1		NM_004621		16	11	0	0	0	0.024245	0	16	11		
PVRL1	5818	broad.mit.edu	37	11	119548477	119548477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:119548477G>A	ENST00000264025.3	-	3	1051	c.521C>T	c.(520-522)tCa>tTa	p.S174L	PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.S174L|PVRL1_ENST00000341398.2_Missense_Mutation_p.S174L	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	174	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.S174L(3)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCCATTGGCTGAGGTGCAGGT	0.577																																						uc001pwv.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)		0						c.(520-522)TCA>TTA		poliovirus receptor-related 1 isoform 1							105.0	89.0	94.0					11																	119548477		2199	4295	6494	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119548477G>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.521C>T	11.37:g.119548477G>A	ENSP00000264025:p.Ser174Leu					PVRL1_uc001pwu.1_Missense_Mutation_p.S174L|PVRL1_uc001pww.2_Missense_Mutation_p.S174L	p.S174L	NM_002855	NP_002846	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	3	693	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	174			Extracellular (Potential).|Ig-like C2-type 1.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.521C>T	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	g	31	5.099443	0.94197	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.81415	-1.49;-1.49;-1.49	5.31	5.31	0.75309	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.060980	0.64402	D	0.000002	D	0.90428	0.7003	M	0.82517	2.595	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.90793	0.4688	9	.	.	.	.	17.9759	0.89127	0.0:0.0:1.0:0.0	.	174;174;174	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	L	174	ENSP00000344974:S174L;ENSP00000264025:S174L;ENSP00000345289:S174L	.	S	-	2	0	PVRL1	119053687	1.000000	0.71417	0.931000	0.37212	0.981000	0.71138	9.468000	0.97676	2.509000	0.84616	0.556000	0.70494	TCA		0.577	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1				36	28	0	0	0	0.09836	0	36	28		
ARHGAP32	9743	broad.mit.edu	37	11	128839644	128839644	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:128839644C>T	ENST00000310343.9	-	22	5421	c.5422G>A	c.(5422-5424)Gaa>Aaa	p.E1808K	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E1459K|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E1459K	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1808	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.E1459K(1)|p.E1808K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TCCTTTCCTTCTGCCACTGAG	0.567																																						uc009zcp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(3)|ovary(2)	5						c.(5422-5424)GAA>AAA		Rho GTPase-activating protein isoform 1							86.0	84.0	85.0					11																	128839644		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839644C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5422G>A	11.37:g.128839644C>T	ENSP00000310561:p.Glu1808Lys					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.E767K|ARHGAP32_uc001qez.2_Missense_Mutation_p.E1459K	p.E1808K	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			22	5422	-			1808			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.5422G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047915	0.93740	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.19532	2.17;2.14;2.14	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	M	0.70275	2.135	0.58432	D	0.999998	D	0.58268	0.982	P	0.56088	0.791	T	0.02901	-1.1096	10	0.34782	T	0.22	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1808	A7KAX9	RHG32_HUMAN	K	1808;1459;1459	ENSP00000310561:E1808K;ENSP00000376425:E1459K;ENSP00000432862:E1459K	ENSP00000310561:E1808K	E	-	1	0	ARHGAP32	128344854	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.482000	0.81143	2.884000	0.98904	0.655000	0.94253	GAA		0.567	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3		NM_014715		61	32	0	0	0	0.048971	0	61	32		
ERC1	23085	broad.mit.edu	37	12	1213916	1213916	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:1213916G>A	ENST00000397203.2	+	4	1493	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000546231.2_Splice_Site_p.E363K|ERC1_ENST00000543086.3_Splice_Site_p.E363K|ERC1_ENST00000360905.4_Splice_Site_p.E363K|ERC1_ENST00000355446.5_Splice_Site_p.E363K|ERC1_ENST00000589028.1_Splice_Site_p.E363K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	363					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.E363K(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TTTTCTACAGGAGATGCATCG	0.413																																						uc001qjb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)|breast(1)	5						c.(1087-1089)GAG>AAG		RAB6-interacting protein 2 isoform epsilon							150.0	149.0	150.0					12																	1213916		2203	4300	6503	SO:0001630	splice_region_variant	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1213916G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1087-1G>A	12.37:g.1213916G>A						ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.E363K|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.E363K|ERC1_uc010sdv.1_Missense_Mutation_p.E139K|ERC1_uc009zdp.2_5'UTR	p.E363K	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		4	1328	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		363			Potential.		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.1087G>A	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384030	0.61845	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.4	4.48	0.54585	.	0.050682	0.85682	D	0.000000	T	0.64034	0.2562	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.76494	0.996;0.999;0.999;0.999	D;D;D;D	0.80764	0.954;0.994;0.975;0.987	T	0.61008	-0.7149	10	0.22706	T	0.39	-22.134	15.7434	0.77920	0.0:0.1371:0.8629:0.0	.	139;363;363;363	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	K	363;363;363;363;363;363;363;363;363;363;139	ENSP00000340054:E363K;ENSP00000380386:E363K;ENSP00000438546:E363K;ENSP00000445336:E363K;ENSP00000442739:E363K;ENSP00000347621:E363K;ENSP00000354158:E363K;ENSP00000410064:E363K	ENSP00000340054:E363K	E	+	1	0	ERC1	1084177	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	9.869000	0.99810	1.212000	0.43366	0.591000	0.81541	GAG		0.413	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2		NM_015064	Missense_Mutation	26	111	0	0	0	0.041601	0	26	111		
FOXM1	2305	broad.mit.edu	37	12	2975580	2975580	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:2975580C>G	ENST00000359843.3	-	5	1022	c.954G>C	c.(952-954)ttG>ttC	p.L318F	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Missense_Mutation_p.L318F|FOXM1_ENST00000342628.2_Missense_Mutation_p.L318F	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	318					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L318F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGTCCAATGTCAAGTAGCGGT	0.507																																						uc001qlf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(952-954)TTG>TTC		forkhead box M1 isoform 2							109.0	98.0	102.0					12																	2975580		2203	4300	6503	SO:0001583	missense	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2975580C>G	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.954G>C	12.37:g.2975580C>G	ENSP00000352901:p.Leu318Phe					FOXM1_uc001qle.2_Missense_Mutation_p.L318F|FOXM1_uc001qlg.2_Missense_Mutation_p.L318F|FOXM1_uc009zea.2_Missense_Mutation_p.L317F|FOXM1_uc009zeb.2_Missense_Mutation_p.L317F	p.L318F	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		5	1219	-			318			Fork-head.		O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	c.954G>C	CCDS8515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.75|17.75	3.466495|3.466495	0.63625|0.63625	.|.	.|.	ENSG00000111206|ENSG00000111206	ENST00000535350|ENST00000342628;ENST00000361953;ENST00000359843	.|D;D;D	.|0.95137	.|-3.62;-3.62;-3.62	5.95|5.95	5.07|5.07	0.68467|0.68467	.|Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	.|0.129964	.|0.48767	.|D	.|0.000172	D|D	0.95962|0.95962	0.8685|0.8685	L|L	0.58669|0.58669	1.825|1.825	0.54753|0.54753	D|D	0.99998|0.99998	.|D;D;D;D;D	.|0.89917	.|1.0;0.993;1.0;0.993;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.979;0.998;0.979;0.998	D|D	0.95702|0.95702	0.8750|0.8750	5|10	.|0.59425	.|D	.|0.04	.|.	10.7284|10.7284	0.46083|0.46083	0.0:0.841:0.0:0.159|0.0:0.841:0.0:0.159	.|.	.|317;318;318;318;318	.|A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.|.;.;.;FOXM1_HUMAN;.	H|F	43|318	.|ENSP00000342307:L318F;ENSP00000354492:L318F;ENSP00000352901:L318F	.|ENSP00000342307:L318F	D|L	-|-	1|3	0|2	FOXM1|FOXM1	2845841|2845841	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.862000|0.862000	0.49288|0.49288	0.633000|0.633000	0.24598|0.24598	1.538000|1.538000	0.49270|0.49270	-0.156000|-0.156000	0.13503|0.13503	GAC|TTG		0.507	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1		NM_021953		25	76	0	0	0	0.099896	0	25	76		
CD163L1	283316	broad.mit.edu	37	12	7556186	7556186	+	Silent	SNP	A	A	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:7556186A>G	ENST00000313599.3	-	6	1410	c.1353T>C	c.(1351-1353)gaT>gaC	p.D451D	CD163L1_ENST00000416109.2_Silent_p.D461D|CD163L1_ENST00000396630.1_Silent_p.D451D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	451	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.D451D(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGCTTTTCCATCATATGTGC	0.413																																						uc001qsy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(1351-1353)GAT>GAC		scavenger receptor cysteine-rich type 1							121.0	113.0	116.0					12																	7556186		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7556186A>G	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1353T>C	12.37:g.7556186A>G						CD163L1_uc010sge.1_Silent_p.D461D	p.D451D	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			6	1379	-			451			SRCR 4.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.1353T>C	CCDS8577.1																																																																																				0.413	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1		NM_174941		4	24	0	0	0	0.014758	0	4	24		
NANOG	79923	broad.mit.edu	37	12	7945759	7945759	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:7945759T>A	ENST00000229307.4	+	2	584	c.365T>A	c.(364-366)cTc>cAc	p.L122H	NANOG_ENST00000526286.1_Missense_Mutation_p.L122H	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	122					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L122H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TACCTCAGCCTCCAGCAGATG	0.443																																						uc009zfy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(364-366)CTC>CAC		Nanog homeobox							26.0	24.0	25.0					12																	7945759		2182	4198	6380	SO:0001583	missense	79923				cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:7945759T>A	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"""Homeoboxes / ANTP class : NKL subclass"""	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.365T>A	12.37:g.7945759T>A	ENSP00000229307:p.Leu122His						p.L122H	NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN		Kidney(36;0.0872)	2	581	+			122			Homeobox.		D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP	ENST00000229307.4	37	c.365T>A	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.025991	0.35701	.	.	ENSG00000111704	ENST00000541267;ENST00000229307;ENST00000526286	D;D;D	0.96232	-3.95;-3.95;-3.95	4.16	2.8	0.32819	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.079055	0.51477	D	0.000099	D	0.94159	0.8126	M	0.62723	1.935	0.37303	D	0.908805	P	0.46395	0.877	P	0.45660	0.489	D	0.93318	0.6690	10	0.62326	D	0.03	-21.9138	4.1814	0.10378	0.0:0.2052:0.0:0.7948	.	122	Q9H9S0	NANOG_HUMAN	H	98;122;122	ENSP00000444434:L98H;ENSP00000229307:L122H;ENSP00000435288:L122H	ENSP00000229307:L122H	L	+	2	0	NANOG	7837026	0.748000	0.28294	0.998000	0.56505	0.825000	0.46686	1.772000	0.38552	1.643000	0.50594	0.459000	0.35465	CTC		0.443	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2		NM_024865		30	28	0	0	0	0.050027	0	30	28		
GPRC5D	55507	broad.mit.edu	37	12	13103173	13103173	+	Missense_Mutation	SNP	C	C	T	rs374734710		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:13103173C>T	ENST00000228887.1	-	1	145	c.146G>A	c.(145-147)cGa>cAa	p.R49Q	GPRC5D_ENST00000396333.3_Missense_Mutation_p.R49Q|RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R49Q(1)|p.R49L(1)		kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TTGGATCTTTCGCATGAGGAA	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20556	0.0		0.0	False		,,,				2504	0.0					uc010shp.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|ovary(1)		0						c.(145-147)CGA>CAA		G protein-coupled receptor, family C, group 5,							82.0	76.0	78.0					12																	13103173		2203	4300	6503	SO:0001583	missense	55507					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:13103173C>T	AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"""GPCR / Class C : Orphans"""	13310	protein-coding gene	gene with protein product		607437	"""G protein-coupled receptor, family C, group 5, member D"""				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.146G>A	12.37:g.13103173C>T	ENSP00000228887:p.Arg49Gln						p.R49Q	NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	1	146	-		Prostate(47;0.183)	49			Cytoplasmic (Potential).		Q3KNV3|Q7Z5J9|Q8TDS6	Missense_Mutation	SNP	ENST00000228887.1	37	c.146G>A	CCDS8658.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402516	0.62288	.	.	ENSG00000111291	ENST00000228887;ENST00000396333;ENST00000541128	D;D;D	0.90069	-2.61;-2.61;-2.61	6.17	5.11	0.69529	GPCR, family 3, C-terminal (1);	0.397760	0.23652	N	0.045910	D	0.87422	0.6173	L	0.50333	1.59	0.23238	N	0.998064	D	0.65815	0.995	P	0.48654	0.585	T	0.80446	-0.1379	10	0.33141	T	0.24	.	11.8554	0.52435	0.0:0.8012:0.126:0.0728	.	49	Q9NZD1	GPC5D_HUMAN	Q	49	ENSP00000228887:R49Q;ENSP00000379624:R49Q;ENSP00000440530:R49Q	ENSP00000228887:R49Q	R	-	2	0	GPRC5D	12994440	0.062000	0.20869	1.000000	0.80357	0.981000	0.71138	1.509000	0.35780	2.941000	0.99782	0.655000	0.94253	CGA		0.552	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1				37	34	0	0	0	0.069456	0	37	34		
ITPR2	3709	broad.mit.edu	37	12	26875357	26875357	+	Silent	SNP	G	G	A	rs563917550		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:26875357G>A	ENST00000381340.3	-	5	914	c.498C>T	c.(496-498)ttC>ttT	p.F166F	ITPR2_ENST00000242737.5_Silent_p.F166F	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	166	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.F166F(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCAGTTTCCAGAACGGATGAA	0.388																																						uc001rhg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(496-498)TTC>TTT		inositol 1,4,5-triphosphate receptor, type 2							145.0	139.0	141.0					12																	26875357		1893	4112	6005	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26875357G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.498C>T	12.37:g.26875357G>A						ITPR2_uc001rhh.1_Silent_p.F104F|ITPR2_uc001rhi.1_Silent_p.F166F	p.F166F	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			5	915	-	Colorectal(261;0.0847)		166			MIR 1.|Cytoplasmic (Potential).		O94773	Silent	SNP	ENST00000381340.3	37	c.498C>T	CCDS41764.1																																																																																				0.388	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		NM_002223		10	21	0	0	0	0.058154	0	10	21		
KIF21A	55605	broad.mit.edu	37	12	39711890	39711890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:39711890G>A	ENST00000361418.5	-	29	3908	c.3893C>T	c.(3892-3894)tCa>tTa	p.S1298L	KIF21A_ENST00000361961.3_Missense_Mutation_p.S1285L|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1262L|KIF21A_ENST00000395670.3_Missense_Mutation_p.S1298L|KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1278L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1298					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S1285L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGCTGAACTGATGTGTTTCC	0.398																																						uc001rly.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(3892-3894)TCA>TTA		kinesin family member 21A							83.0	88.0	86.0					12																	39711890		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39711890G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3893C>T	12.37:g.39711890G>A	ENSP00000354878:p.Ser1298Leu					KIF21A_uc001rlv.2_Intron|KIF21A_uc001rlw.2_Intron|KIF21A_uc001rlx.2_Missense_Mutation_p.S1285L|KIF21A_uc001rlz.2_Missense_Mutation_p.S1262L|KIF21A_uc010skl.1_Missense_Mutation_p.S1278L|KIF21A_uc001rlu.2_5'UTR	p.S1298L	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			29	4039	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1298					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.3893C>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168861	0.57584	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.70631	-0.5;-0.49;-0.43;-0.42;-0.39	5.83	4.94	0.65067	.	0.338911	0.21433	N	0.074604	T	0.66655	0.2811	L	0.58101	1.795	0.37499	D	0.916695	B;B;B;B	0.26512	0.0;0.0;0.151;0.13	B;B;B;B	0.25405	0.0;0.001;0.06;0.047	T	0.65569	-0.6136	10	0.22706	T	0.39	.	14.9922	0.71396	0.0684:0.0:0.9316:0.0	.	1278;1262;1298;1285	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;KI21A_HUMAN;.	L	1285;1298;1278;1298;1262	ENSP00000354851:S1285L;ENSP00000379029:S1298L;ENSP00000445606:S1278L;ENSP00000354878:S1298L;ENSP00000438075:S1262L	ENSP00000354878:S1298L	S	-	2	0	KIF21A	37998157	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.974000	0.63771	1.482000	0.48325	0.585000	0.79938	TCA		0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1		NM_017641		16	96	0	0	0	0.0333	0	16	96		
TROAP	10024	broad.mit.edu	37	12	49723705	49723705	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:49723705A>C	ENST00000257909.3	+	12	1306	c.1230A>C	c.(1228-1230)aaA>aaC	p.K410N	TROAP_ENST00000547923.1_Missense_Mutation_p.K118N|TROAP_ENST00000551245.1_Missense_Mutation_p.K410N	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	410					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.K410N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GTTCTGGGAAACCACCGGTGG	0.552																																						uc001rtx.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1228-1230)AAA>AAC		tastin isoform 1							102.0	102.0	102.0					12																	49723705		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49723705A>C	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1230A>C	12.37:g.49723705A>C	ENSP00000257909:p.Lys410Asn					TROAP_uc009zlh.2_Missense_Mutation_p.K410N|TROAP_uc001rty.2_Missense_Mutation_p.K118N	p.K410N	NM_005480	NP_005471	Q12815	TROAP_HUMAN			12	1397	+			410					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1230A>C	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967423	0.53507	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	5.45	-6.69	0.01772	.	0.521266	0.19010	N	0.125107	T	0.20536	0.0494	L	0.31926	0.97	0.09310	N	1	B;B;B	0.20261	0.043;0.043;0.009	B;B;B	0.18561	0.022;0.022;0.016	T	0.06023	-1.0850	9	0.49607	T	0.09	0.389	2.1851	0.03884	0.2354:0.3802:0.2604:0.1241	.	410;118;410	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	N	410;410;118	.	ENSP00000257909:K410N	K	+	3	2	TROAP	48009972	0.021000	0.18746	0.000000	0.03702	0.017000	0.09413	-0.159000	0.10056	-1.019000	0.03358	-0.366000	0.07423	AAA		0.552	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1		NM_005480		11	263	0	0	0	0.064281	0	11	263		
KRT71	112802	broad.mit.edu	37	12	52940119	52940119	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:52940119C>G	ENST00000267119.5	-	7	1345	c.1276G>C	c.(1276-1278)Gac>Cac	p.D426H		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	426	Coil 2.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.D426H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		ATCTCCATGTCCAGGGCCAGC	0.667																																						uc001sao.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1276-1278)GAC>CAC		keratin 71							82.0	72.0	75.0					12																	52940119		2203	4300	6503	SO:0001583	missense	112802						structural molecule activity	g.chr12:52940119C>G	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.1276G>C	12.37:g.52940119C>G	ENSP00000267119:p.Asp426His						p.D426H	NM_033448	NP_258259	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	7	1346	-			426			Coil 2.|Rod.		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	c.1276G>C	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855735	0.91355	.	.	ENSG00000139648	ENST00000267119	D	0.91686	-2.89	4.34	4.34	0.51931	Filament (1);	0.000000	0.42420	D	0.000709	D	0.97318	0.9123	H	0.95539	3.685	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.98708	1.0703	10	0.87932	D	0	.	17.7328	0.88383	0.0:1.0:0.0:0.0	.	426	Q3SY84	K2C71_HUMAN	H	426	ENSP00000267119:D426H	ENSP00000267119:D426H	D	-	1	0	KRT71	51226386	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.372000	0.80975	0.561000	0.74099	GAC		0.667	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1		NM_033448		12	86	0	0	0	0.09319	0	12	86		
OR6C6	283365	broad.mit.edu	37	12	55688666	55688666	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:55688666G>A	ENST00000358433.2	-	1	350	c.351C>T	c.(349-351)tcC>tcT	p.S117S		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S117S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGCGGTCATAGGACATGGCAG	0.403																																						uc010sph.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|skin(1)	2						c.(349-351)TCC>TCT		olfactory receptor, family 6, subfamily C,							62.0	59.0	60.0					12																	55688666		2203	4300	6503	SO:0001819	synonymous_variant	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688666G>A		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.351C>T	12.37:g.55688666G>A							p.S117S	NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN			1	351	-			117			Cytoplasmic (Potential).			Silent	SNP	ENST00000358433.2	37	c.351C>T	CCDS31817.1																																																																																				0.403	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1				6	11	0	0	0	0.021553	0	6	11		
SARNP	84324	broad.mit.edu	37	12	56188642	56188642	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:56188642C>T	ENST00000336133.3	-	6	380	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	SARNP_ENST00000444631.2_Missense_Mutation_p.R49Q|SARNP_ENST00000552080.1_Missense_Mutation_p.R109Q|RP11-762I7.5_ENST00000546837.1_Silent_p.T421T	NM_033082.3	NP_149073.1	P82979	SARNP_HUMAN	SAP domain containing ribonucleoprotein	109					mRNA export from nucleus (GO:0006406)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R109Q(1)		breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						TACATTGAATCGTTCAGCCCT	0.428																																						uc001shu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)	4						c.(2374-2376)CGA>CAA		dopamine receptor interacting protein							58.0	56.0	57.0					12																	56188642		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56188642C>T	AJ409089	CCDS8892.1	12q13.2	2009-07-09				ENSG00000205323			24432	protein-coding gene	gene with protein product	"""hepatocellular carcinoma 1"", ""cytokine induced protein 29 kDa"""	610049				11356193, 11922608	Standard	NM_033082		Approved	THO1, Hcc-1, CIP29		P82979	OTTHUMG00000170441	ENST00000336133.3:c.326G>A	12.37:g.56188642C>T	ENSP00000337632:p.Arg109Gln					SARNP_uc009zoa.2_RNA|SARNP_uc001shs.3_RNA|SARNP_uc001sht.2_Missense_Mutation_p.R109Q|SARNP_uc001shv.3_Missense_Mutation_p.R109Q	p.R792Q	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN			11	2431	-			Error:Variant_position_missing_in_Q6Y2X3_after_alignment					A8K393|Q9P066	Missense_Mutation	SNP	ENST00000336133.3	37	c.2375G>A	CCDS8892.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885522	0.72410	.	.	ENSG00000205323	ENST00000444631;ENST00000336133;ENST00000552080	.	.	.	5.67	4.78	0.61160	.	0.053916	0.64402	N	0.000001	T	0.61751	0.2372	M	0.79693	2.465	0.51012	D	0.999902	B;B	0.25809	0.135;0.001	B;B	0.14023	0.01;0.001	T	0.63633	-0.6593	9	0.56958	D	0.05	-16.353	10.6601	0.45698	0.0:0.9118:0.0:0.0882	.	109;109	F8VZQ9;P82979	.;SARNP_HUMAN	Q	49;109;109	.	ENSP00000337632:R109Q	R	-	2	0	SARNP	54474909	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.150000	0.71801	1.539000	0.49286	0.655000	0.94253	CGA		0.428	SARNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409159.2		NM_033082		11	20	0	0	0	0.069234	0	11	20		
LGR5	8549	broad.mit.edu	37	12	71833917	71833917	+	Silent	SNP	G	G	A	rs147257938		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:71833917G>A	ENST00000266674.5	+	1	368	c.57G>A	c.(55-57)gcG>gcA	p.A19A	TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000536515.1_Silent_p.A19A|LGR5_ENST00000540815.2_Silent_p.A19A			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	19					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.A19A(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGCAGCTGGCGACCGGGGGCA	0.682																																						uc001swl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(55-57)GCG>GCA		leucine-rich repeat-containing G protein-coupled							49.0	48.0	48.0					12																	71833917		2203	4300	6503	SO:0001819	synonymous_variant	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71833917G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.57G>A	12.37:g.71833917G>A						TSPAN8_uc001swk.1_Intron|LGR5_uc001swm.2_Silent_p.A19A|LGR5_uc001swn.1_RNA	p.A19A	NM_003667	NP_003658	O75473	LGR5_HUMAN			1	105	+			19					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Silent	SNP	ENST00000266674.5	37	c.57G>A	CCDS9000.1																																																																																				0.682	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1		NM_003667		20	42	0	0	0	0.076483	0	20	42		
BTBD11	121551	broad.mit.edu	37	12	108011968	108011968	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:108011968G>A	ENST00000280758.5	+	10	2793	c.2265G>A	c.(2263-2265)gaG>gaA	p.E755E	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000490090.2_Silent_p.E755E|BTBD11_ENST00000357167.4_Silent_p.E292E	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	755						integral component of membrane (GO:0016021)		p.E755E(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCCAGCCAGAGAAGGAGAAGA	0.597																																						uc001tmk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(2263-2265)GAG>GAA		BTB (POZ) domain containing 11 isoform a							60.0	63.0	62.0					12																	108011968		2203	4300	6503	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:108011968G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2265G>A	12.37:g.108011968G>A						BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Silent_p.E755E|BTBD11_uc001tml.1_Silent_p.E292E	p.E755E	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			10	2786	+			755			ANK 4.		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.2265G>A	CCDS31893.1																																																																																				0.597	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1		NM_152322		9	64	0	0	0	0.058154	0	9	64		
UBE3B	89910	broad.mit.edu	37	12	109971290	109971290	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:109971290G>A	ENST00000342494.3	+	27	3537	c.2942G>A	c.(2941-2943)aGa>aAa	p.R981K	UBE3B_ENST00000434735.2_Missense_Mutation_p.R981K|UBE3B_ENST00000535089.1_Missense_Mutation_p.R68K	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	981	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R981K(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						AGCTGCTCCAGACCCCCGCTC	0.642																																						uc001top.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)	4						c.(2941-2943)AGA>AAA		ubiquitin protein ligase E3B							132.0	116.0	121.0					12																	109971290		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109971290G>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2942G>A	12.37:g.109971290G>A	ENSP00000340596:p.Arg981Lys					UBE3B_uc001toq.2_Missense_Mutation_p.R981K|UBE3B_uc001tos.2_Missense_Mutation_p.R408K|UBE3B_uc001tot.2_Missense_Mutation_p.R99K|UBE3B_uc010sxp.1_Missense_Mutation_p.R99K	p.R981K	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			27	3545	+			981			HECT.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.2942G>A	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914946	0.72983	.	.	ENSG00000151148	ENST00000434735;ENST00000342494;ENST00000538070;ENST00000535089	T;T;T	0.62788	0.0;0.0;0.0	5.35	5.35	0.76521	HECT (4);	0.000000	0.85682	D	0.000000	T	0.48804	0.1520	N	0.12887	0.27	0.80722	D	1	B;B	0.26258	0.145;0.018	B;B	0.33392	0.163;0.045	T	0.42155	-0.9468	10	0.20519	T	0.43	-25.9246	18.046	0.89332	0.0:0.0:1.0:0.0	.	276;981	F5H2J2;Q7Z3V4	.;UBE3B_HUMAN	K	981;981;276;68	ENSP00000391529:R981K;ENSP00000340596:R981K;ENSP00000442276:R68K	ENSP00000340596:R981K	R	+	2	0	UBE3B	108455673	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.297000	0.96120	2.510000	0.84645	0.563000	0.77884	AGA		0.642	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1		NM_183415		58	142	0	0	0	0.048971	0	58	142		
CIT	11113	broad.mit.edu	37	12	120263155	120263155	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:120263155C>T	ENST00000261833.7	-	8	823	c.771G>A	c.(769-771)ccG>ccA	p.P257P	CIT_ENST00000392521.2_Silent_p.P257P	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P257P(2)|p.P258P(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGGTCCCAATCGGGAGTTTGG	0.493																																						uc001txi.1		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(769-771)CCG>CCA		citron							115.0	104.0	108.0					12																	120263155		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120263155C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.771G>A	12.37:g.120263155C>T						CIT_uc001txj.1_Silent_p.P257P	p.P257P	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	8	824	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	257			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.771G>A	CCDS9192.1																																																																																				0.493	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4		NM_007174		40	64	0	0	0	0.092188	0	40	64		
VPS37B	79720	broad.mit.edu	37	12	123351840	123351840	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:123351840C>T	ENST00000267202.2	-	4	1062	c.681G>A	c.(679-681)atG>atA	p.M227I	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	227	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)		p.M227I(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GTCCCGAACTCATGGCCGCAG	0.692																																						uc001udl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(679-681)ATG>ATA		vacuolar protein sorting 37B							14.0	14.0	14.0					12																	123351840		2198	4276	6474	SO:0001583	missense	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123351840C>T	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.681G>A	12.37:g.123351840C>T	ENSP00000267202:p.Met227Ile						p.M227I	NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	4	784	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		227			Pro-rich.			Missense_Mutation	SNP	ENST00000267202.2	37	c.681G>A	CCDS9239.1	.	.	.	.	.	.	.	.	.	.	C	6.198	0.404739	0.11754	.	.	ENSG00000139722	ENST00000267202;ENST00000535765	T;T	0.55413	0.52;0.52	5.44	4.54	0.55810	.	0.610619	0.19054	N	0.123947	T	0.46718	0.1407	M	0.63428	1.95	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.33624	-0.9861	10	0.23302	T	0.38	-1.9697	9.4046	0.38453	0.1422:0.7849:0.0:0.0729	.	227	Q9H9H4	VP37B_HUMAN	I	227;225	ENSP00000267202:M227I;ENSP00000446075:M225I	ENSP00000267202:M227I	M	-	3	0	VPS37B	121917793	0.002000	0.14202	0.002000	0.10522	0.056000	0.15407	0.707000	0.25704	1.265000	0.44215	0.655000	0.94253	ATG		0.692	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1		NM_024667		6	12	0	0	0	0.058154	0	6	12		
TMEM132D	121256	broad.mit.edu	37	12	130184379	130184379	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:130184379G>C	ENST00000422113.2	-	2	1270	c.944C>G	c.(943-945)tCc>tGc	p.S315C	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	315					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.S315C(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCTTCAGTGGAATTTCTGGA	0.493																																						uc009zyl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(943-945)TCC>TGC		transmembrane protein 132D precursor							111.0	101.0	105.0					12																	130184379		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184379G>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.944C>G	12.37:g.130184379G>C	ENSP00000408581:p.Ser315Cys						p.S315C	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	1272	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	315			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.944C>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	6.671	0.492340	0.12702	.	.	ENSG00000151952	ENST00000422113	T	0.15139	2.45	5.47	1.24	0.21308	.	0.800907	0.11301	N	0.578244	T	0.15609	0.0376	L	0.42245	1.32	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29549	-1.0008	9	.	.	.	-6.1178	13.0748	0.59081	0.0:0.4726:0.4241:0.1033	.	315	Q14C87	T132D_HUMAN	C	315	ENSP00000408581:S315C	.	S	-	2	0	TMEM132D	128750332	0.011000	0.17503	0.010000	0.14722	0.004000	0.04260	1.389000	0.34453	-0.082000	0.12640	0.650000	0.86243	TCC		0.493	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1		NM_133448		23	80	0	0	0	0.0918	0	23	80		
FLT3	2322	broad.mit.edu	37	13	28589746	28589746	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr13:28589746C>T	ENST00000241453.7	-	21	2715	c.2634G>A	c.(2632-2634)ctG>ctA	p.L878L	FLT3_ENST00000380982.4_Silent_p.L881L|FLT3_ENST00000537084.1_Silent_p.L837L|FLT3_ENST00000469894.1_5'Flank	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	878	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.L878L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGATTTCCCACAGTAATATTC	0.552			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2		NaN		Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		1	Substitution - coding silent(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(2632-2634)CTG>CTA		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						101.0	97.0	98.0					13																	28589746		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28589746C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2634G>A	13.37:g.28589746C>T						FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.L837L	p.L878L	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	21	2716	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	878			Protein kinase.|Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.2634G>A	CCDS31953.1																																																																																				0.552	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2				14	93	0	0	0	0.024245	0	14	93		
BRCA2	675	broad.mit.edu	37	13	32914733	32914733	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr13:32914733G>C	ENST00000380152.3	+	11	6474	c.6241G>C	c.(6241-6243)Gag>Cag	p.E2081Q	BRCA2_ENST00000544455.1_Missense_Mutation_p.E2081Q			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2081					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.E2081Q(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGGAGTGTTAGAGGAATTTGA	0.353			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - Missense(2)		urinary_tract(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(6241-6243)GAG>CAG	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							64.0	66.0	65.0					13																	32914733		2203	4298	6501	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914733G>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6241G>C	13.37:g.32914733G>C	ENSP00000369497:p.Glu2081Gln	TCGA Ovarian(8;0.087)					p.E2081Q	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6468	+		Lung SC(185;0.0262)	2081			BRCA2 8.		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.6241G>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731162	0.30684	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.75367	-0.93;-0.93	5.59	4.74	0.60224	.	0.319686	0.27735	N	0.018069	T	0.58119	0.2100	N	0.14661	0.345	0.09310	N	0.999998	P	0.44429	0.835	P	0.45071	0.468	T	0.51537	-0.8693	10	0.34782	T	0.22	.	6.4622	0.21962	0.1663:0.1607:0.673:0.0	.	2081	P51587	BRCA2_HUMAN	Q	2081	ENSP00000369497:E2081Q;ENSP00000439902:E2081Q	ENSP00000369497:E2081Q	E	+	1	0	BRCA2	31812733	0.552000	0.26505	0.998000	0.56505	0.812000	0.45895	0.681000	0.25320	2.626000	0.88956	0.591000	0.81541	GAG		0.353	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		56	71	0	0	0	0.048971	0	56	71		
SLC25A15	10166	broad.mit.edu	37	13	41379289	41379289	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr13:41379289C>A	ENST00000338625.4	+	4	586	c.350C>A	c.(349-351)tCt>tAt	p.S117Y	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	117					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|L-ornithine transmembrane transport (GO:1903352)|mitochondrial ornithine transport (GO:0000066)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	L-ornithine transmembrane transporter activity (GO:0000064)	p.S117Y(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	TCCTTCGCCTCTGCCTTTGCT	0.552																																						uc001uxn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(349-351)TCT>TAT		mitochondrial ornithine transporter 1	L-Ornithine(DB00129)						102.0	92.0	95.0					13																	41379289		2203	4300	6503	SO:0001583	missense	10166				cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr13:41379289C>A	AF112968	CCDS9373.1	13q14	2013-05-22			ENSG00000102743	ENSG00000102743		"""Solute carriers"""	10985	protein-coding gene	gene with protein product	"""ornithine transporter 1"""	603861		ORNT1, HHH		10369256	Standard	NM_014252		Approved	ORC1, D13S327	uc001uxn.3	Q9Y619	OTTHUMG00000016776	ENST00000338625.4:c.350C>A	13.37:g.41379289C>A	ENSP00000342267:p.Ser117Tyr					SUGT1L1_uc001uxp.1_Intron|SLC25A15_uc010tfb.1_Missense_Mutation_p.S23Y|SUGT1L1_uc001uxo.1_RNA	p.S117Y	NM_014252	NP_055067	Q9Y619	ORNT1_HUMAN		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	4	672	+		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	117			Helical; Name=3; (Potential).|Solcar 2.		Q5VZD8|Q9HC45	Missense_Mutation	SNP	ENST00000338625.4	37	c.350C>A	CCDS9373.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797874	0.90538	.	.	ENSG00000102743	ENST00000338625;ENST00000443985	T	0.79033	-1.23	5.62	5.62	0.85841	Mitochondrial carrier domain (2);	0.049954	0.85682	D	0.000000	D	0.91405	0.7288	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.79108	0.992;0.95	D	0.93191	0.6583	10	0.87932	D	0	.	18.6386	0.91386	0.0:1.0:0.0:0.0	.	57;117	B4DL63;Q9Y619	.;ORNT1_HUMAN	Y	117;57	ENSP00000342267:S117Y	ENSP00000342267:S117Y	S	+	2	0	SLC25A15	40277289	1.000000	0.71417	0.994000	0.49952	0.782000	0.44232	7.722000	0.84778	2.651000	0.90000	0.650000	0.86243	TCT		0.552	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276149.2		NM_014252		31	36	1	0	9.57592e-29	0.048971	1.01729e-28	31	36		
PIBF1	10464	broad.mit.edu	37	13	73590051	73590051	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr13:73590051G>C	ENST00000326291.6	+	18	2606	c.2268G>C	c.(2266-2268)aaG>aaC	p.K756N	PIBF1_ENST00000489922.1_3'UTR	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	756						centrosome (GO:0005813)		p.K756N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAAAGATGAAGACCTAGTGTT	0.348																																						uc001vjc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(2266-2268)AAG>AAC		progesterone-induced blocking factor 1							95.0	93.0	93.0					13																	73590051		2203	4300	6503	SO:0001583	missense	10464					centrosome		g.chr13:73590051G>C	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.2268G>C	13.37:g.73590051G>C	ENSP00000317144:p.Lys756Asn					PIBF1_uc010aep.2_Missense_Mutation_p.K215N	p.K756N	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	18	2573	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	756					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.2268G>C	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112797	0.37242	.	.	ENSG00000083535	ENST00000326291;ENST00000326314	T	0.32515	1.45	4.73	2.89	0.33648	.	0.141173	0.42821	D	0.000645	T	0.27454	0.0674	L	0.51422	1.61	0.41605	D	0.98887	B	0.32245	0.361	B	0.37239	0.244	T	0.13602	-1.0503	10	0.72032	D	0.01	-18.1781	5.6019	0.17359	0.2559:0.0:0.7441:0.0	.	756	Q8WXW3	PIBF1_HUMAN	N	756;215	ENSP00000317144:K756N	ENSP00000317144:K756N	K	+	3	2	PIBF1	72488052	0.885000	0.30320	0.985000	0.45067	0.227000	0.25037	0.435000	0.21510	1.236000	0.43740	0.551000	0.68910	AAG		0.348	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1		NM_006346		11	45	0	0	0	0.105934	0	11	45		
COL4A1	1282	broad.mit.edu	37	13	110829360	110829360	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr13:110829360G>A	ENST00000375820.4	-	34	2862	c.2741C>T	c.(2740-2742)tCa>tTa	p.S914L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	914	Triple-helical region.			S -> K (in Ref. 8; AA sequence). {ECO:0000305}.	axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.S914L(1)|p.S557L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGGTCCTGAGGAGCCCGG	0.587																																						uc001vqw.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(2740-2742)TCA>TTA		alpha 1 type IV collagen preproprotein							56.0	55.0	56.0					13																	110829360		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110829360G>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2741C>T	13.37:g.110829360G>A	ENSP00000364979:p.Ser914Leu					COL4A1_uc010agl.2_Intron	p.S914L	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		34	2863	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	914	S -> K (in Ref. 8; AA sequence).		Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.2741C>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796638	0.50208	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.92699	-3.09	5.56	4.71	0.59529	.	0.454124	0.23328	N	0.049380	D	0.82332	0.5014	N	0.03000	-0.44	0.31407	N	0.675961	B	0.34241	0.444	B	0.39876	0.312	T	0.81686	-0.0820	10	0.28530	T	0.3	.	11.505	0.50461	0.156:0.0:0.844:0.0	.	914	P02462	CO4A1_HUMAN	L	557;914;563	ENSP00000364979:S914L	ENSP00000364973:S557L	S	-	2	0	COL4A1	109627361	0.161000	0.22892	0.917000	0.36280	0.727000	0.41649	3.280000	0.51677	1.484000	0.48361	0.655000	0.94253	TCA		0.587	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3				18	58	0	0	0	0.0333	0	18	58		
RPGRIP1	57096	broad.mit.edu	37	14	21762864	21762864	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:21762864G>C	ENST00000400017.2	+	2	114	c.114G>C	c.(112-114)ttG>ttC	p.L38F	RPGRIP1_ENST00000206660.6_Missense_Mutation_p.L38F|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.L38F|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.L38F	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	38					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.L38F(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AACCACCCTTGAGCAGGATGA	0.413																																						uc001wag.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(2)|pancreas(1)	7						c.(112-114)TTG>TTC		retinitis pigmentosa GTPase regulator							104.0	102.0	103.0					14																	21762864		1860	4101	5961	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21762864G>C	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.114G>C	14.37:g.21762864G>C	ENSP00000382895:p.Leu38Phe						p.L38F	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	2	114	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	38					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.114G>C	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219644	0.39201	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	4.52	-1.0	0.10196	.	0.370603	0.20780	N	0.085811	D	0.88284	0.6395	L	0.55481	1.735	0.09310	N	1	D	0.71674	0.998	P	0.62649	0.905	T	0.78414	-0.2213	10	0.66056	D	0.02	-0.5818	1.1234	0.01729	0.1789:0.146:0.376:0.2991	.	38	Q96KN7	RPGR1_HUMAN	F	38	ENSP00000450445:L38F;ENSP00000451219:L38F;ENSP00000382895:L38F;ENSP00000206660:L38F	ENSP00000206660:L38F	L	+	3	2	RPGRIP1	20832704	0.746000	0.28272	0.001000	0.08648	0.717000	0.41224	0.206000	0.17375	-0.416000	0.07473	0.561000	0.74099	TTG		0.413	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1		NM_020366		25	38	0	0	0	0.034045	0	25	38		
HECTD1	25831	broad.mit.edu	37	14	31614067	31614067	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:31614067G>C	ENST00000399332.1	-	16	3065	c.2577C>G	c.(2575-2577)ctC>ctG	p.L859L	HECTD1_ENST00000553700.1_Silent_p.L859L|RNU6-541P_ENST00000384709.1_RNA	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	859					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.L859L(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTATGTTTCTGAGTGTTACCA	0.358																																						uc001wrc.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|large_intestine(1)|lung(1)	5						c.(2575-2577)CTC>CTG		HECT domain containing 1							84.0	81.0	82.0					14																	31614067		1879	4113	5992	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31614067G>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2577C>G	14.37:g.31614067G>C						HECTD1_uc001wrd.1_Silent_p.L374L	p.L859L	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	16	3066	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		859					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.2577C>G	CCDS41939.1																																																																																				0.358	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1				24	21	0	0	0	0.083992	0	24	21		
NID2	22795	broad.mit.edu	37	14	52535556	52535556	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:52535556C>G	ENST00000216286.5	-	1	156	c.157G>C	c.(157-159)Gac>Cac	p.D53H	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	53					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.D53H(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GAGCTTTCGTCGTCGCCTTCC	0.627																																						uc001wzo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(157-159)GAC>CAC		nidogen 2 precursor							91.0	79.0	83.0					14																	52535556		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52535556C>G	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.157G>C	14.37:g.52535556C>G	ENSP00000216286:p.Asp53His					NID2_uc010tqs.1_Missense_Mutation_p.D53H|NID2_uc010tqt.1_Missense_Mutation_p.D53H|NID2_uc001wzp.2_Missense_Mutation_p.D53H	p.D53H	NM_007361	NP_031387	Q14112	NID2_HUMAN			1	391	-	Breast(41;0.0639)|all_epithelial(31;0.123)		53					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.157G>C	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670976	0.88348	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000395707	T	0.35421	1.31	4.81	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	M	0.92026	3.265	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.66716	0.946;0.902	T	0.72541	-0.4262	10	0.87932	D	0	.	12.2475	0.54578	0.1711:0.8289:0.0:0.0	.	55;53	Q5CZI2;Q14112	.;NID2_HUMAN	H	53;53;55	ENSP00000216286:D53H	ENSP00000216286:D53H	D	-	1	0	NID2	51605306	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.799000	0.62517	1.017000	0.39495	0.455000	0.32223	GAC		0.627	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1				26	21	0	0	0	0.099896	0	26	21		
KIAA0586	9786	broad.mit.edu	37	14	58949408	58949408	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:58949408C>G	ENST00000556134.1	+	22	3351	c.3077C>G	c.(3076-3078)tCa>tGa	p.S1026*	KIAA0586_ENST00000423743.3_Nonsense_Mutation_p.S997*|KIAA0586_ENST00000261244.5_Nonsense_Mutation_p.S965*|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Nonsense_Mutation_p.S1094*	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1026					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.S965*(1)|p.S1094*(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGGATGCTTCAACAAATGAA	0.388																																						uc001xdv.3		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(1)	1						c.(2893-2895)TCA>TGA		talpid3 protein							113.0	112.0	113.0					14																	58949408		1843	4106	5949	SO:0001587	stop_gained	9786							g.chr14:58949408C>G	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.3077C>G	14.37:g.58949408C>G	ENSP00000452351:p.Ser1026*					KIAA0586_uc010trr.1_Nonsense_Mutation_p.S1082*|KIAA0586_uc001xdt.3_Nonsense_Mutation_p.S997*|KIAA0586_uc001xdu.3_Nonsense_Mutation_p.S1026*|KIAA0586_uc010trs.1_Nonsense_Mutation_p.S956*|KIAA0586_uc010trt.1_Nonsense_Mutation_p.S901*|KIAA0586_uc010tru.1_Nonsense_Mutation_p.S901*	p.S965*	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN			20	3167	+			965					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Nonsense_Mutation	SNP	ENST00000556134.1	37	c.2894C>G	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	C	40	8.425508	0.98806	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	.	.	.	5.9	4.07	0.47477	.	0.513993	0.19448	N	0.114003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	9.3353	0.38047	0.0:0.8336:0.0:0.1664	.	.	.	.	X	1094;1026;997;965;901	.	ENSP00000261244:S965X	S	+	2	0	KIAA0586	58019161	.	.	0.180000	0.23079	0.147000	0.21601	.	.	0.821000	0.34540	0.650000	0.86243	TCA		0.388	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1		NM_014749		19	39	0	0	0	0.043863	0	19	39		
SIX4	51804	broad.mit.edu	37	14	61190738	61190738	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:61190738C>G	ENST00000216513.4	-	1	114	c.55G>C	c.(55-57)Gag>Cag	p.E19Q		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	19					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E19Q(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		ATCCCATTCTCTTGCTTGATG	0.622																																						uc001xfc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|ovary(1)	4						c.(55-57)GAG>CAG		sine oculis homeobox homolog 4							77.0	85.0	82.0					14																	61190738		2166	4267	6433	SO:0001583	missense	51804					nucleus		g.chr14:61190738C>G	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.55G>C	14.37:g.61190738C>G	ENSP00000216513:p.Glu19Gln					SIX4_uc010app.1_Missense_Mutation_p.E11Q	p.E19Q	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	1	55	-			19					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.55G>C	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	c	16.60	3.167871	0.57476	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.92647	-3.08	3.07	2.15	0.27550	.	2.203000	0.02965	U	0.143651	D	0.90484	0.7019	N	0.19112	0.55	0.33060	D	0.533904	D;P	0.57257	0.979;0.9	P;B	0.51079	0.658;0.362	T	0.83031	-0.0162	10	0.52906	T	0.07	.	11.5065	0.50471	0.1809:0.8191:0.0:0.0	.	11;19	G3V2N2;Q9UIU6	.;SIX4_HUMAN	Q	19;11	ENSP00000216513:E19Q	ENSP00000216513:E19Q	E	-	1	0	SIX4	60260491	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	6.544000	0.73878	0.608000	0.30000	0.290000	0.19541	GAG		0.622	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2				41	62	0	0	0	0.048971	0	41	62		
KCNH5	27133	broad.mit.edu	37	14	63269243	63269243	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:63269243C>G	ENST00000322893.7	-	9	1894	c.1626G>C	c.(1624-1626)cgG>cgC	p.R542R	KCNH5_ENST00000394968.1_Silent_p.R484R|KCNH5_ENST00000420622.2_Silent_p.R542R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	542					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R542R(1)|p.R484R(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TAAAAACCTTCCGGTTTAGAT	0.493																																						uc001xfx.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(1624-1626)CGG>CGC		potassium voltage-gated channel, subfamily H,							55.0	56.0	56.0					14																	63269243		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269243C>G	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1626G>C	14.37:g.63269243C>G						KCNH5_uc001xfy.2_Silent_p.R542R|KCNH5_uc001xfz.1_Silent_p.R484R	p.R542R	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1677	-			542			Cytoplasmic (Potential).		C9JP98	Silent	SNP	ENST00000322893.7	37	c.1626G>C	CCDS9756.1																																																																																				0.493	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1		NM_139318		4	11	0	0	0	0.009096	0	4	11		
SYNE2	23224	broad.mit.edu	37	14	64586261	64586261	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:64586261G>A	ENST00000344113.4	+	67	13169	c.12957G>A	c.(12955-12957)ctG>ctA	p.L4319L	SYNE2_ENST00000357395.3_Silent_p.L704L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Silent_p.L4334L|SYNE2_ENST00000555002.1_Silent_p.L953L|SYNE2_ENST00000358025.3_Silent_p.L4319L|SYNE2_ENST00000394768.2_Silent_p.L704L|SYNE2_ENST00000553455.1_Silent_p.L38L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4319					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.L4319L(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCCTGAAACTGAAAACAGTGA	0.428																																						uc001xgm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(12955-12957)CTG>CTA		spectrin repeat containing, nuclear envelope 2							82.0	76.0	78.0					14																	64586261		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64586261G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12957G>A	14.37:g.64586261G>A						SYNE2_uc001xgl.2_Silent_p.L4319L|SYNE2_uc010apy.2_Silent_p.L704L|SYNE2_uc010apz.1_Silent_p.L211L	p.L4319L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	67	13187	+			4319			Cytoplasmic (Potential).|Potential.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.12957G>A	CCDS41963.1																																																																																				0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		32	21	0	0	0	0.041601	0	32	21		
PLEKHH1	57475	broad.mit.edu	37	14	68043123	68043123	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:68043123C>G	ENST00000329153.5	+	17	2496	c.2364C>G	c.(2362-2364)ctC>ctG	p.L788L	PLEKHH1_ENST00000417684.2_5'Flank	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	788	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoskeleton (GO:0005856)		p.L827L(1)|p.L788L(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATACGTGGCTCTACCACCTCA	0.582																																						uc001xjl.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(2362-2364)CTC>CTG		pleckstrin homology domain containing, family H							51.0	51.0	51.0					14																	68043123		1977	4154	6131	SO:0001819	synonymous_variant	57475					cytoskeleton	binding	g.chr14:68043123C>G	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2364C>G	14.37:g.68043123C>G						PLEKHH1_uc010tsw.1_Silent_p.L356L|PLEKHH1_uc001xjn.1_Silent_p.L303L|PLEKHH1_uc010tsx.1_5'Flank	p.L788L	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	17	2506	+			788			PH 2.		A6H8X6|Q6PJL4|Q6ZWC7	Silent	SNP	ENST00000329153.5	37	c.2364C>G	CCDS45128.1																																																																																				0.582	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3		XM_031054		9	27	0	0	0	0.043863	0	9	27		
NRXN3	9369	broad.mit.edu	37	14	79270112	79270112	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:79270112G>T	ENST00000554719.1	+	6	1566	c.1075G>T	c.(1075-1077)Gac>Tac	p.D359Y	NRXN3_ENST00000335750.5_Missense_Mutation_p.D359Y	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	137					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.D359Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGACTCTGCCGACACCCTGCG	0.572																																						uc001xun.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1075-1077)GAC>TAC		neurexin 3 isoform 1 precursor							124.0	98.0	107.0					14																	79270112		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79270112G>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1075G>T	14.37:g.79270112G>T	ENSP00000451648:p.Asp359Tyr					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.D493Y	p.D359Y	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	6	1566	+		Renal(4;0.00876)	732			Laminin G-like 4.|Extracellular (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1075G>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808516	0.90707	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	D;D	0.84370	-1.84;-1.84	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.92909	0.7744	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91447	0.5178	8	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	732;359	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	Y	732;730;359;359	ENSP00000451648:D359Y;ENSP00000338349:D359Y	.	D	+	1	0	NRXN3	78339865	1.000000	0.71417	0.967000	0.41034	0.973000	0.67179	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAC		0.572	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1		NM_001105250		12	21	1	0	1.5842e-08	0.105934	1.64035e-08	12	21		
ASB2	51676	broad.mit.edu	37	14	94405833	94405833	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:94405833G>A	ENST00000315988.4	-	6	1582	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F	ASB2_ENST00000555019.1_Missense_Mutation_p.S413F|ASB2_ENST00000556337.1_5'UTR|RP11-131H24.4_ENST00000557646.1_5'Flank	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	365					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.S365F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GTACAGCGCGGAGCTGCGCCG	0.687																																						uc001ycc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(1093-1095)TCC>TTC		ankyrin repeat and SOCS box-containing protein							23.0	19.0	20.0					14																	94405833		2188	4286	6474	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94405833G>A	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1094C>T	14.37:g.94405833G>A	ENSP00000320675:p.Ser365Phe					ASB2_uc001ycb.1_Missense_Mutation_p.S59F|ASB2_uc001ycd.2_Missense_Mutation_p.S413F|ASB2_uc001yce.1_Missense_Mutation_p.S311F	p.S365F	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	6	1583	-		all_cancers(154;0.13)	365			ANK 10.		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.1094C>T	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760147	0.49468	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;T;T	0.31510	2.26;2.26;1.49	4.75	3.84	0.44239	Ankyrin repeat-containing domain (3);	0.056009	0.64402	D	0.000001	T	0.35941	0.0949	M	0.80847	2.515	0.43527	D	0.995802	B;B;B	0.12630	0.006;0.004;0.006	B;B;B	0.16722	0.016;0.004;0.016	T	0.29058	-1.0024	10	0.87932	D	0	.	9.6927	0.40139	0.0788:0.1411:0.78:0.0	.	381;413;365	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	F	413;381;365;311;311	ENSP00000451575:S413F;ENSP00000320675:S365F;ENSP00000450940:S311F	ENSP00000320675:S365F	S	-	2	0	ASB2	93475586	1.000000	0.71417	0.277000	0.24703	0.732000	0.41865	6.546000	0.73887	0.968000	0.38212	0.462000	0.41574	TCC		0.687	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1				6	22	0	0	0	0.02938	0	6	22		
ASPG	374569	broad.mit.edu	37	14	104570652	104570652	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:104570652C>G	ENST00000551177.1	+	8	857	c.765C>G	c.(763-765)ttC>ttG	p.F255L	ASPG_ENST00000546892.2_Missense_Mutation_p.F255L|ASPG_ENST00000455920.2_Missense_Mutation_p.F255L	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	255	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)	p.F255L(1)|p.F283L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TTCGGGCCTTCTTGCAGCCTC	0.677																																						uc001yoq.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(763-765)TTC>TTG		60 kDa lysophospholipase							29.0	34.0	32.0					14																	104570652		1960	4146	6106	SO:0001583	missense	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104570652C>G		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.765C>G	14.37:g.104570652C>G	ENSP00000450040:p.Phe255Leu					ASPG_uc001yoo.1_Missense_Mutation_p.F283L|ASPG_uc001yop.1_Missense_Mutation_p.F255L|ASPG_uc001yor.1_Missense_Mutation_p.F255L	p.F255L	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN			8	825	+			255			Asparaginase.		B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	c.765C>G	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	C	8.802	0.933062	0.18131	.	.	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920	T;T;T	0.19669	2.13;2.13;2.13	4.1	1.17	0.20885	.	0.053416	0.85682	D	0.000000	T	0.16938	0.0407	N	0.12920	0.275	0.47094	D	0.99931	B;P;P;B	0.51653	0.007;0.947;0.934;0.114	B;P;P;B	0.54060	0.011;0.741;0.623;0.175	T	0.04078	-1.0979	10	0.38643	T	0.18	-16.9565	7.0199	0.24908	0.0:0.5866:0.0:0.4134	.	255;255;255;283	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	L	255;283;255;255	ENSP00000450040:F255L;ENSP00000448911:F255L;ENSP00000389003:F255L	ENSP00000299234:F283L	F	+	3	2	ASPG	103640405	0.986000	0.35501	0.998000	0.56505	0.062000	0.15995	0.243000	0.18106	0.222000	0.20900	0.462000	0.41574	TTC		0.677	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1		NM_001080464		8	23	0	0	0	0.047766	0	8	23		
TUBGCP5	114791	broad.mit.edu	37	15	22864348	22864348	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:22864348G>A	ENST00000283645.4	+	16	2436	c.2306G>A	c.(2305-2307)cGt>cAt	p.R769H	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R769H	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	769					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.R769H(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTAGGACAGCGTTATCCTGAA	0.348																																						uc001yur.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(2305-2307)CGT>CAT		tubulin, gamma complex associated protein 5							79.0	77.0	78.0					15																	22864348		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22864348G>A	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2306G>A	15.37:g.22864348G>A	ENSP00000283645:p.Arg769His					TUBGCP5_uc001yuq.2_Missense_Mutation_p.R769H	p.R769H	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	16	2436	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	769					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.2306G>A	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690428	0.48097	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.08896	3.04;3.04	5.0	3.12	0.35913	.	0.060981	0.64402	N	0.000002	T	0.06462	0.0166	L	0.47716	1.5	0.53005	D	0.999969	P;P	0.40431	0.717;0.717	B;B	0.33454	0.164;0.164	T	0.42531	-0.9446	10	0.15952	T	0.53	-6.7294	9.7718	0.40593	0.1596:0.0:0.8404:0.0	.	769;769	Q96RT8;E9PB12	GCP5_HUMAN;.	H	769	ENSP00000283645:R769H;ENSP00000409217:R769H	ENSP00000283645:R769H	R	+	2	0	TUBGCP5	20415789	1.000000	0.71417	0.928000	0.36995	0.988000	0.76386	9.054000	0.93866	0.811000	0.34303	0.591000	0.81541	CGT		0.348	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2		NM_052903		6	156	0	0	0	0.02938	0	6	156		
TP53BP1	7158	broad.mit.edu	37	15	43783886	43783886	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:43783886G>T	ENST00000263801.3	-	4	589	c.337C>A	c.(337-339)Cag>Aag	p.Q113K	TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q118K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q118K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q118K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	113					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.Q113K(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTGTTTGGCTGAGGTAACTGC	0.393								Other conserved DNA damage response genes																														uc001zrs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(337-339)CAG>AAG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							189.0	193.0	191.0					15																	43783886		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43783886G>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.337C>A	15.37:g.43783886G>T	ENSP00000263801:p.Gln113Lys					TP53BP1_uc010udp.1_Missense_Mutation_p.Q113K|TP53BP1_uc001zrq.3_Missense_Mutation_p.Q118K|TP53BP1_uc001zrr.3_Missense_Mutation_p.Q118K|TP53BP1_uc010udq.1_Missense_Mutation_p.Q118K	p.Q113K	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	4	485	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	113					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.337C>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512398	0.64522	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.10573	3.71;3.71;3.7;3.71;2.86	4.64	4.64	0.57946	.	0.270733	0.31268	N	0.007941	T	0.25606	0.0623	M	0.67953	2.075	0.30032	N	0.813396	D;D;P;P	0.64830	0.994;0.969;0.917;0.917	D;D;D;D	0.69654	0.965;0.93;0.915;0.915	T	0.04481	-1.0948	10	0.12766	T	0.61	-8.0136	12.8522	0.57864	0.0:0.0:1.0:0.0	.	118;113;118;118	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	K	113;118;118;118;118	ENSP00000263801:Q113K;ENSP00000371475:Q118K;ENSP00000371470:Q118K;ENSP00000393497:Q118K;ENSP00000388028:Q118K	ENSP00000263801:Q113K	Q	-	1	0	TP53BP1	41571178	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.511000	0.53400	2.417000	0.82017	0.585000	0.79938	CAG		0.393	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3				169	335	1	0	6.04909e-70	0.048971	6.51073e-70	169	335		
B2M	567	broad.mit.edu	37	15	45007713	45007713	+	Missense_Mutation	SNP	G	G	A	rs148494241		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:45007713G>A	ENST00000558401.1	+	2	230	c.160G>A	c.(160-162)Gac>Aac	p.D54N	B2M_ENST00000544417.1_Missense_Mutation_p.D54N|B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Missense_Mutation_p.D54N	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	54	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.D54N(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TCATCCATCCGACATTGAAGT	0.408																																						uc001zuc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(160-162)GAC>AAC		beta-2-microglobulin precursor		G	ASN/ASP	1,4395	2.1+/-5.4	0,1,2197	181.0	186.0	185.0		160	-0.5	0.0	15	dbSNP_134	185	0,8596		0,0,4298	no	missense	B2M	NM_004048.2	23	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	benign	54/120	45007713	1,12991	2198	4298	6496	SO:0001583	missense	567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45007713G>A	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.160G>A	15.37:g.45007713G>A	ENSP00000452780:p.Asp54Asn					B2M_uc010uek.1_Missense_Mutation_p.D54N|B2M_uc010bdx.1_Missense_Mutation_p.D54N	p.D54N	NM_004048	NP_004039	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	2	220	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	54			Ig-like C1-type.		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	c.160G>A	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529845	0.45073	2.27E-4	0.0	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.03212	4.01	6.03	-0.53	0.11898	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.936939	0.09208	N	0.833609	T	0.06280	0.0162	L	0.38838	1.175	0.09310	N	1	P;P;B	0.42757	0.789;0.743;0.237	B;B;B	0.42282	0.264;0.382;0.051	T	0.43540	-0.9385	10	0.49607	T	0.09	.	20.2997	0.98608	0.0:0.3165:0.6835:0.0	.	54;54;54	F5H6I0;A6XMH4;P61769	.;.;B2MG_HUMAN	N	54	ENSP00000437604:D54N	ENSP00000340858:D54N	D	+	1	0	B2M	42795005	0.022000	0.18835	0.000000	0.03702	0.003000	0.03518	0.262000	0.18460	-0.337000	0.08426	-0.165000	0.13383	GAC		0.408	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2		NM_004048		65	252	0	0	0	0.048971	0	65	252		
MYO1E	4643	broad.mit.edu	37	15	59502740	59502740	+	Silent	SNP	G	G	A	rs200815044		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:59502740G>A	ENST00000288235.4	-	13	1734	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	RNU4-80P_ENST00000363200.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	445	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.I445I(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GGTCACATACGATTTTATTAT	0.348																																						uc002aga.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(3)	3						c.(1333-1335)ATC>ATT		myosin IE							190.0	182.0	185.0					15																	59502740		2190	4290	6480	SO:0001819	synonymous_variant	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59502740G>A	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1335C>T	15.37:g.59502740G>A							p.I445I	NM_004998	NP_004989	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	13	1707	-			445			Myosin head-like.		Q14778	Silent	SNP	ENST00000288235.4	37	c.1335C>T	CCDS32254.1																																																																																				0.348	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1		NM_004998		19	128	0	0	0	0.049695	0	19	128		
C15orf59	388135	broad.mit.edu	37	15	74032895	74032895	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:74032895G>C	ENST00000569673.1	-	3	1449	c.245C>G	c.(244-246)tCt>tGt	p.S82C	C15orf59_ENST00000558834.1_Intron|C15orf59_ENST00000379822.4_Missense_Mutation_p.S82C			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	82								p.S82C(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTCACTGCTAGAGGTGCTGCT	0.587																																						uc002avy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(244-246)TCT>TGT		hypothetical protein LOC388135							146.0	150.0	148.0					15																	74032895		2198	4297	6495	SO:0001583	missense	388135							g.chr15:74032895G>C		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.245C>G	15.37:g.74032895G>C	ENSP00000457205:p.Ser82Cys						p.S82C	NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN			2	590	-			82						Missense_Mutation	SNP	ENST00000569673.1	37	c.245C>G	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261436	0.80358	.	.	ENSG00000205363	ENST00000379822	T	0.69040	-0.37	4.85	4.85	0.62838	.	0.117146	0.64402	D	0.000012	T	0.80670	0.4667	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82020	-0.0664	10	0.52906	T	0.07	.	17.5721	0.87937	0.0:0.0:1.0:0.0	.	82	Q2T9L4	CO059_HUMAN	C	82	ENSP00000369150:S82C	ENSP00000369150:S82C	S	-	2	0	C15orf59	71819948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.993000	0.93524	2.221000	0.72209	0.561000	0.74099	TCT		0.587	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2		NM_001039614		84	385	0	0	0	0.048971	0	84	385		
PML	5371	broad.mit.edu	37	15	74290639	74290639	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:74290639G>C	ENST00000268058.3	+	2	520	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	PML_ENST00000569965.1_Missense_Mutation_p.E142Q|PML_ENST00000436891.3_Missense_Mutation_p.E142Q|PML_ENST00000565898.1_Missense_Mutation_p.E142Q|PML_ENST00000563500.1_Missense_Mutation_p.E142Q|PML_ENST00000359928.4_Missense_Mutation_p.E142Q|PML_ENST00000354026.6_Missense_Mutation_p.E142Q|PML_ENST00000268059.6_Missense_Mutation_p.E142Q|PML_ENST00000567543.1_Missense_Mutation_p.E142Q|PML_ENST00000395132.2_Missense_Mutation_p.E142Q|PML_ENST00000564428.1_Missense_Mutation_p.E142Q|PML_ENST00000395135.3_Missense_Mutation_p.E142Q|PML_ENST00000569477.1_Missense_Mutation_p.E142Q|PML_ENST00000435786.2_Missense_Mutation_p.E142Q	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	142					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E142Q(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CTGGTGCTTTGAGTGCGAGCA	0.637			T	"""RARA, PAX5"""	"""APL, ALL"""																																	uc002awv.2		NaN		Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	RARA|PAX5		APL|ALL		3	Substitution - Missense(3)		urinary_tract(3)	central_nervous_system(2)|kidney(2)|breast(1)	5						c.(424-426)GAG>CAG		promyelocytic leukemia protein isoform 1							40.0	38.0	39.0					15																	74290639		2198	4297	6495	SO:0001583	missense	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding	g.chr15:74290639G>C	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.424G>C	15.37:g.74290639G>C	ENSP00000268058:p.Glu142Gln					PML_uc002awm.2_Missense_Mutation_p.E142Q|PML_uc002awl.2_Missense_Mutation_p.E142Q|PML_uc002awj.1_Missense_Mutation_p.E142Q|PML_uc002awk.2_Missense_Mutation_p.E142Q|PML_uc002awn.2_Missense_Mutation_p.E142Q|PML_uc002awo.2_Missense_Mutation_p.E142Q|PML_uc002awp.2_Missense_Mutation_p.E142Q|PML_uc002awq.2_Missense_Mutation_p.E142Q|PML_uc002awr.2_Missense_Mutation_p.E142Q|PML_uc002aws.2_Missense_Mutation_p.E142Q|PML_uc002awt.2_Missense_Mutation_p.E142Q|PML_uc002awu.2_Missense_Mutation_p.E142Q|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.E57Q	p.E142Q	NM_033238	NP_150241	P29590	PML_HUMAN			2	564	+			142			B box-type 1; atypical.		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.424G>C	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737779	0.69304	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.78	3.82	0.43975	Zinc finger, B-box (3);	0.098258	0.44483	N	0.000451	T	0.51329	0.1668	L	0.34521	1.04	0.32002	N	0.603234	P;D;D;D;P;D;D;D;D;D;D;P	0.89917	0.952;1.0;1.0;1.0;0.925;1.0;1.0;1.0;1.0;1.0;0.999;0.943	P;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.833;1.0;0.998;0.998;0.929;0.999;0.997;0.998;0.999;0.994;0.994;0.927	T	0.60870	-0.7177	10	0.72032	D	0.01	-23.1959	11.6566	0.51322	0.0:0.1799:0.8201:0.0	.	92;142;142;142;142;142;142;142;142;142;142;145	Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	Q	142	ENSP00000378567:E142Q;ENSP00000395576:E142Q;ENSP00000353004:E142Q;ENSP00000394642:E142Q;ENSP00000268058:E142Q;ENSP00000378564:E142Q;ENSP00000268059:E142Q;ENSP00000315434:E142Q	ENSP00000268058:E142Q	E	+	1	0	PML	72077692	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	3.882000	0.56160	0.943000	0.37553	0.561000	0.74099	GAG		0.637	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3		NM_002675		11	46	0	0	0	0.080935	0	11	46		
PTPN9	5780	broad.mit.edu	37	15	75798059	75798059	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:75798059C>G	ENST00000306726.2	-	7	1437	c.925G>C	c.(925-927)Gac>Cac	p.D309H	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	309	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)	p.D309H(1)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGACGAATGTCTTCATATTCC	0.473																																						uc002bal.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|skin(1)	2						c.(925-927)GAC>CAC		protein tyrosine phosphatase, non-receptor type							170.0	151.0	157.0					15																	75798059		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75798059C>G		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.925G>C	15.37:g.75798059C>G	ENSP00000303554:p.Asp309His						p.D309H	NM_002833	NP_002824	P43378	PTN9_HUMAN			7	1433	-			309			Tyrosine-protein phosphatase.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.925G>C	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455422	0.84209	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	T	0.14144	2.53	5.61	5.61	0.85477	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.110721	0.64402	D	0.000005	T	0.25457	0.0619	M	0.64567	1.98	0.80722	D	1	P	0.41784	0.762	P	0.45794	0.493	T	0.00546	-1.1678	10	0.72032	D	0.01	.	18.6987	0.91613	0.0:1.0:0.0:0.0	.	309	P43378	PTN9_HUMAN	H	309;299	ENSP00000303554:D309H	ENSP00000303554:D309H	D	-	1	0	PTPN9	73585114	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.159000	0.77483	2.672000	0.90937	0.650000	0.86243	GAC		0.473	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1				110	209	0	0	0	0.048971	0	110	209		
RASGRF1	5923	broad.mit.edu	37	15	79296180	79296180	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:79296180C>T	ENST00000419573.3	-	16	2735	c.2461G>A	c.(2461-2463)Gag>Aag	p.E821K	RASGRF1_ENST00000394745.3_Missense_Mutation_p.E37K|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E805K|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	821					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.E821K(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						TCGGGCTTCTCAGGGGTCGTA	0.627																																						uc002beq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(2461-2463)GAG>AAG		Ras protein-specific guanine							52.0	45.0	47.0					15																	79296180		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.chr15:79296180C>T	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.2461G>A	15.37:g.79296180C>T	ENSP00000405963:p.Glu821Lys					RASGRF1_uc002bep.2_Missense_Mutation_p.E805K|RASGRF1_uc010blm.1_Missense_Mutation_p.E730K|RASGRF1_uc002ber.3_Missense_Mutation_p.E805K|RASGRF1_uc010unh.1_Missense_Mutation_p.E216K|RASGRF1_uc002beo.2_Missense_Mutation_p.E37K	p.E821K	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			16	2836	-			823					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.2461G>A	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592779	0.46214	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.58940	0.3;0.6	4.83	4.83	0.62350	Ras guanine nucleotide exchange factor, domain (1);	0.137912	0.26684	U	0.023023	T	0.47857	0.1468	L	0.48642	1.525	0.48975	D	0.999731	P;B;B;B;B	0.37914	0.611;0.072;0.062;0.078;0.054	B;B;B;B;B	0.36378	0.223;0.015;0.039;0.013;0.047	T	0.44159	-0.9346	10	0.08381	T	0.77	.	15.3943	0.74778	0.0:1.0:0.0:0.0	.	217;821;805;823;805	B7Z6Z6;A8K270;Q8IUU5;Q13972;F8VPA5	.;.;.;RGRF1_HUMAN;.	K	821;805;37	ENSP00000405963:E821K;ENSP00000378228:E37K	ENSP00000378224:E805K	E	-	1	0	RASGRF1	77083235	1.000000	0.71417	0.775000	0.31657	0.142000	0.21351	5.802000	0.69122	2.197000	0.70478	0.491000	0.48974	GAG		0.627	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3		NM_002891		34	43	0	0	0	0.064281	0	34	43		
ALPK3	57538	broad.mit.edu	37	15	85401089	85401089	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:85401089C>T	ENST00000258888.5	+	6	3893	c.3726C>T	c.(3724-3726)ctC>ctT	p.L1242L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1242					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L1242L(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCCGCCGCCTCACCGGCCTCC	0.692																																						uc002ble.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(3724-3726)CTC>CTT		alpha-kinase 3							41.0	28.0	32.0					15																	85401089		2200	4291	6491	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85401089C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3726C>T	15.37:g.85401089C>T							p.L1242L	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3893	+			1242					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.3726C>T	CCDS10333.1																																																																																				0.692	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1		NM_020778		8	17	0	0	0	0.080935	0	8	17		
SYNM	23336	broad.mit.edu	37	15	99671728	99671728	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:99671728G>A	ENST00000560674.1	+	4	2774	c.2305G>A	c.(2305-2307)Gga>Aga	p.G769R	SYNM_ENST00000336292.6_Missense_Mutation_p.G1054R|SYNM_ENST00000328642.7_Missense_Mutation_p.G1054R|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1055	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.G1054R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGAGGAAGGTGGAGCGGAGGC	0.652																																					Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|central_nervous_system(1)	4						c.(3163-3165)GGA>AGA		desmuslin isoform A							20.0	27.0	25.0					15																	99671728		2093	4231	6324	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99671728G>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2305G>A	15.37:g.99671728G>A	ENSP00000453040:p.Gly769Arg					SYNM_uc002buo.2_Missense_Mutation_p.G1055R|SYNM_uc002buq.2_Intron	p.G1055R	NM_145728	NP_663780	O15061	SYNEM_HUMAN			6	3283	+			1055			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.3163G>A		.	.	.	.	.	.	.	.	.	.	G	10.16	1.273771	0.23221	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.84370	-1.84;-1.73	5.01	0.711	0.18162	.	.	.	.	.	D	0.87752	0.6256	.	.	.	0.09310	N	1	D;D	0.71674	0.998;0.993	P;D	0.62955	0.905;0.909	T	0.76274	-0.3019	8	0.87932	D	0	.	3.8566	0.08978	0.3973:0.0:0.4418:0.1608	.	1055;1054	O15061;C9JIE4	SYNEM_HUMAN;.	R	1054	ENSP00000336775:G1054R;ENSP00000330469:G1054R	ENSP00000330469:G1054R	G	+	1	0	SYNM	97489251	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.461000	0.21940	-0.138000	0.11434	-0.345000	0.07892	GGA		0.652	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2		NM_145728		12	21	0	0	0	0.024245	0	12	21		
WDR90	197335	broad.mit.edu	37	16	703802	703802	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:703802C>T	ENST00000293879.4	+	13	1436	c.1436C>T	c.(1435-1437)aCg>aTg	p.T479M	WDR90_ENST00000549091.1_Splice_Site_p.T479M|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	479								p.T479M(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CACGGGAGGACGGTAACAGGG	0.627																																						uc002cii.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1435-1437)ACG>ATG		WD repeat domain 90							34.0	40.0	38.0					16																	703802		1988	4157	6145	SO:0001630	splice_region_variant	197335							g.chr16:703802C>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1437+1C>T	16.37:g.703802C>T						WDR90_uc002cig.1_Missense_Mutation_p.T479M|WDR90_uc002cih.1_Missense_Mutation_p.T480M|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank|WDR90_uc002cil.1_5'Flank	p.T479M	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			13	1490	+		Hepatocellular(780;0.0218)	479			WD 2.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1436C>T	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438148	0.43326	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.31247	1.53;1.5	4.74	3.79	0.43588	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.64402	U	0.000004	T	0.35508	0.0934	M	0.83692	2.655	0.80722	D	1	D;D;D	0.64830	0.969;0.994;0.958	B;B;B	0.40602	0.329;0.334;0.242	T	0.41179	-0.9523	10	0.46703	T	0.11	.	11.6224	0.51126	0.0:0.9116:0.0:0.0884	.	479;480;479	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	M	479	ENSP00000448122:T479M;ENSP00000293879:T479M	ENSP00000293879:T479M	T	+	2	0	WDR90	643803	0.864000	0.29904	0.998000	0.56505	0.906000	0.53458	1.844000	0.39269	0.986000	0.38683	0.561000	0.74099	ACG		0.627	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1		NM_145294	Missense_Mutation	9	41	0	0	0	0.058154	0	9	41		
PPL	5493	broad.mit.edu	37	16	4945714	4945714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:4945714G>A	ENST00000345988.2	-	10	1065	c.976C>T	c.(976-978)Cac>Tac	p.H326Y	PPL_ENST00000590782.2_Missense_Mutation_p.H324Y	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	326					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.H326Y(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACGTCTTCGTGAAACTAGGGG	0.582																																						uc002cyd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(976-978)CAC>TAC		periplakin							92.0	78.0	82.0					16																	4945714		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4945714G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.976C>T	16.37:g.4945714G>A	ENSP00000340510:p.His326Tyr						p.H326Y	NM_002705	NP_002696	O60437	PEPL_HUMAN			10	1066	-			326			Potential.|Spectrin 2.		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.976C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187385	0.38609	.	.	ENSG00000118898	ENST00000345988	D	0.92348	-3.02	4.12	4.12	0.48240	.	0.269718	0.37393	N	0.002114	D	0.84279	0.5437	N	0.24115	0.695	0.40308	D	0.978683	B	0.17852	0.024	B	0.13407	0.009	T	0.78720	-0.2094	10	0.02654	T	1	.	16.9057	0.86127	0.0:0.0:1.0:0.0	.	326	O60437	PEPL_HUMAN	Y	326	ENSP00000340510:H326Y	ENSP00000340510:H326Y	H	-	1	0	PPL	4885715	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	4.291000	0.59025	2.283000	0.76528	0.462000	0.41574	CAC		0.582	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		NM_002705		75	98	0	0	0	0.048971	0	75	98		
ZC3H7A	29066	broad.mit.edu	37	16	11868313	11868313	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:11868313G>A	ENST00000396516.2	-	8	879	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.H228Y|ZC3H7A_ENST00000575170.1_5'Flank			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	228						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.H228Y(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CCAACTTCATGAGAAAAACTG	0.458																																						uc002dbk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(682-684)CAT>TAT		zinc finger CCCH-type containing 7A							88.0	86.0	87.0					16																	11868313		2197	4300	6497	SO:0001583	missense	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11868313G>A	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.682C>T	16.37:g.11868313G>A	ENSP00000379773:p.His228Tyr					ZC3H7A_uc002dbl.2_Missense_Mutation_p.H228Y|ZC3H7A_uc002dbm.1_Missense_Mutation_p.H228Y	p.H228Y	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN			8	880	-			228					D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	37	c.682C>T	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	G	4.725	0.134778	0.09032	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.09723	2.95;2.95	5.48	4.41	0.53225	.	1.127380	0.06294	N	0.699761	T	0.09423	0.0232	L	0.36672	1.1	0.29839	N	0.829409	B	0.02656	0.0	B	0.04013	0.001	T	0.39542	-0.9609	10	0.02654	T	1	.	10.2254	0.43222	0.1007:0.0:0.8993:0.0	.	228	Q8IWR0	Z3H7A_HUMAN	Y	228	ENSP00000347999:H228Y;ENSP00000379773:H228Y	ENSP00000347999:H228Y	H	-	1	0	ZC3H7A	11775814	1.000000	0.71417	0.279000	0.24732	0.921000	0.55340	2.053000	0.41326	1.299000	0.44798	0.467000	0.42956	CAT		0.458	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1		NM_014153		48	69	0	0	0	0.048971	0	48	69		
PDILT	204474	broad.mit.edu	37	16	20410611	20410611	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:20410611G>A	ENST00000302451.4	-	2	260	c.12C>T	c.(10-12)ctC>ctT	p.L4L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	4					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.L4L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GGGGCATCCAGAGTAGGTCCA	0.592																																						uc002dhc.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)	1						c.(10-12)CTC>CTT		protein disulfide isomerase-like, testis							77.0	76.0	76.0					16																	20410611		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20410611G>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.12C>T	16.37:g.20410611G>A							p.L4L	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			2	235	-			4					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.12C>T	CCDS10584.1																																																																																				0.592	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1		NM_174924		21	82	0	0	0	0.083992	0	21	82		
ACSM5	54988	broad.mit.edu	37	16	20430712	20430712	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:20430712C>G	ENST00000331849.4	+	4	725	c.578C>G	c.(577-579)tCa>tGa	p.S193*	ACSM5_ENST00000575584.1_Nonsense_Mutation_p.S193*	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	193					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.S193*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGCTGGTGTCAGACAGCAGT	0.557																																						uc002dhe.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)	2						c.(577-579)TCA>TGA		acyl-CoA synthetase medium-chain family member 5							53.0	49.0	51.0					16																	20430712		2203	4300	6503	SO:0001587	stop_gained	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20430712C>G		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.578C>G	16.37:g.20430712C>G	ENSP00000327916:p.Ser193*					ACSM5_uc002dhd.1_Nonsense_Mutation_p.S193*	p.S193*	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			4	725	+			193					Q96AV1|Q96CX8|Q9NWV3	Nonsense_Mutation	SNP	ENST00000331849.4	37	c.578C>G	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328997	0.95733	.	.	ENSG00000183549	ENST00000331849	.	.	.	4.65	4.65	0.58169	.	0.120536	0.37809	N	0.001922	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.4722	17.6834	0.88250	0.0:1.0:0.0:0.0	.	.	.	.	X	193	.	ENSP00000327916:S193X	S	+	2	0	ACSM5	20338213	0.871000	0.30034	0.953000	0.39169	0.874000	0.50279	3.274000	0.51631	2.561000	0.86390	0.650000	0.86243	TCA		0.557	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1		NM_017888		19	27	0	0	0	0.043863	0	19	27		
PRKCB	5579	broad.mit.edu	37	16	24202490	24202490	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:24202490G>A	ENST00000321728.7	+	16	1977	c.1802G>A	c.(1801-1803)cGg>cAg	p.R601Q	PRKCB_ENST00000303531.7_Missense_Mutation_p.R601Q	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	601	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R601Q(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GCATTTTTCCGGTATATTGAT	0.463																																						uc002dmd.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1801-1803)CGG>CAG		protein kinase C, beta isoform 1	Vitamin E(DB00163)						120.0	119.0	119.0					16																	24202490		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24202490G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1802G>A	16.37:g.24202490G>A	ENSP00000318315:p.Arg601Gln					PRKCB_uc002dme.2_Missense_Mutation_p.R601Q	p.R601Q	NM_212535	NP_997700	P05771	KPCB_HUMAN			16	1999	+			601			AGC-kinase C-terminal.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1802G>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693238	0.96793	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.46063	0.88;0.88	5.79	5.79	0.91817	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	M	0.75447	2.3	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.63703	0.917;0.869	T	0.66044	-0.6021	10	0.62326	D	0.03	.	18.5987	0.91239	0.0:0.0:1.0:0.0	.	601;601	P05771-2;P05771	.;KPCB_HUMAN	Q	601	ENSP00000318315:R601Q;ENSP00000305355:R601Q	ENSP00000305355:R601Q	R	+	2	0	PRKCB	24109991	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.744000	0.94065	0.650000	0.86243	CGG		0.463	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2		NM_212535		3	87	0	0	0	0.009096	0	3	87		
TAOK2	9344	broad.mit.edu	37	16	29999180	29999180	+	Missense_Mutation	SNP	G	G	A	rs540709989	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:29999180G>A	ENST00000308893.4	+	16	4630	c.3587G>A	c.(3586-3588)cGg>cAg	p.R1196Q	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.R1083Q|TAOK2_ENST00000416441.2_Missense_Mutation_p.R1023Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1196					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.R1196Q(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CGAATCCCCCGGCTACTACCA	0.721													G|||	3	0.000599042	0.0	0.0	5008	,	,		9781	0.0		0.0	False		,,,				2504	0.0031					uc002dva.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(3586-3588)CGG>CAG		TAO kinase 2 isoform 2							12.0	12.0	12.0					16																	29999180		2186	4272	6458	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29999180G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3587G>A	16.37:g.29999180G>A	ENSP00000310094:p.Arg1196Gln					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.R1203Q|TAOK2_uc002dvd.1_Missense_Mutation_p.R1023Q	p.R1196Q	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			16	4370	+			1196					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.3587G>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047553	0.75846	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.76316	-0.96;-1.01	4.04	4.04	0.47022	.	0.359137	0.26187	N	0.025833	T	0.76572	0.4006	N	0.14661	0.345	0.35420	D	0.793173	D;D;D	0.89917	0.997;1.0;0.997	D;D;D	0.79108	0.953;0.992;0.953	T	0.79555	-0.1755	9	.	.	.	.	13.2124	0.59832	0.0:0.0:1.0:0.0	.	1387;1023;1196	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	Q	1196;1083	ENSP00000310094:R1196Q;ENSP00000440336:R1083Q	.	R	+	2	0	TAOK2	29906681	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.005000	0.49521	2.084000	0.62774	0.563000	0.77884	CGG		0.721	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2		NM_016151		3	15	0	0	0	0.014758	0	3	15		
SLC12A3	6559	broad.mit.edu	37	16	56906612	56906612	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:56906612G>C	ENST00000563236.1	+	8	1034	c.1009G>C	c.(1009-1011)Gat>Cat	p.D337H	SLC12A3_ENST00000566786.1_Missense_Mutation_p.D336H|SLC12A3_ENST00000438926.2_Missense_Mutation_p.D337H|SLC12A3_ENST00000262502.5_Missense_Mutation_p.D336H			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	337					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.D337H(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCGGGGTCCAGATGGCACCTT	0.562																																						uc010ccm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(1009-1011)GAT>CAT		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						82.0	72.0	76.0					16																	56906612		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56906612G>C		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1009G>C	16.37:g.56906612G>C	ENSP00000456149:p.Asp337His					SLC12A3_uc002ekd.3_Missense_Mutation_p.D337H|SLC12A3_uc010ccn.2_Missense_Mutation_p.D336H	p.D337H	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			8	1038	+			337					A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.1009G>C	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332426	0.41297	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.82	5.82	0.92795	Amino acid permease domain (1);	0.305944	0.39909	N	0.001231	T	0.69637	0.3133	L	0.27944	0.81	0.43032	D	0.994601	B;P;P	0.45240	0.128;0.854;0.824	B;P;P	0.59761	0.098;0.863;0.784	T	0.71919	-0.4447	9	0.87932	D	0	.	20.0773	0.97749	0.0:0.0:1.0:0.0	.	336;337;337	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	H	336;337	.	ENSP00000262502:D337H	D	+	1	0	SLC12A3	55464113	0.997000	0.39634	0.583000	0.28640	0.746000	0.42486	4.625000	0.61262	2.750000	0.94351	0.561000	0.74099	GAT		0.562	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1				41	40	0	0	0	0.11126	0	41	40		
MMP15	4324	broad.mit.edu	37	16	58071406	58071406	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:58071406C>G	ENST00000219271.3	+	2	978	c.193C>G	c.(193-195)Cag>Gag	p.Q65E		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	65					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q65E(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CTACCTGCCTCAGCCCAGCCG	0.607																																						uc002ena.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|breast(1)	3						c.(193-195)CAG>GAG		matrix metalloproteinase 15 preproprotein							44.0	46.0	45.0					16																	58071406		2198	4300	6498	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58071406C>G	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.193C>G	16.37:g.58071406C>G	ENSP00000219271:p.Gln65Glu						p.Q65E	NM_002428	NP_002419	P51511	MMP15_HUMAN			2	1166	+			65					A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.193C>G	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650717	0.67472	.	.	ENSG00000102996	ENST00000219271	T	0.35048	1.33	4.05	4.05	0.47172	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.134260	0.52532	D	0.000078	T	0.33702	0.0872	L	0.28504	0.86	0.58432	D	0.999997	P	0.46784	0.884	P	0.46110	0.504	T	0.17319	-1.0373	10	0.48119	T	0.1	.	15.6653	0.77225	0.0:1.0:0.0:0.0	.	65	P51511	MMP15_HUMAN	E	65	ENSP00000219271:Q65E	ENSP00000219271:Q65E	Q	+	1	0	MMP15	56628907	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.614000	0.82996	2.219000	0.72066	0.462000	0.41574	CAG		0.607	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1		NM_002428		7	15	0	0	0	0.047766	0	7	15		
NDRG4	65009	broad.mit.edu	37	16	58537754	58537754	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:58537754C>G	ENST00000570248.1	+	2	180	c.74C>G	c.(73-75)tCc>tGc	p.S25C	NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000394282.4_Missense_Mutation_p.S77C|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000566192.1_Missense_Mutation_p.S25C|NDRG4_ENST00000568640.1_Missense_Mutation_p.S43C|NDRG4_ENST00000562999.1_Missense_Mutation_p.S25C|NDRG4_ENST00000356752.4_Missense_Mutation_p.S55C|NDRG4_ENST00000394279.2_Missense_Mutation_p.S57C|NDRG4_ENST00000563799.1_Missense_Mutation_p.S25C|NDRG4_ENST00000258187.5_Missense_Mutation_p.S57C	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	25					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)		p.S57C(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						ATCCGGGGCTCCCCCAAGGGG	0.622																																						uc002eno.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(73-75)TCC>TGC		NDRG family member 4 isoform 1							90.0	76.0	80.0					16																	58537754		2198	4300	6498	SO:0001583	missense	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58537754C>G	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.74C>G	16.37:g.58537754C>G	ENSP00000457659:p.Ser25Cys					NDRG4_uc002enk.2_Missense_Mutation_p.S57C|NDRG4_uc002enm.2_Missense_Mutation_p.S77C|NDRG4_uc010vif.1_Missense_Mutation_p.S57C|NDRG4_uc010cdk.2_Missense_Mutation_p.S25C|NDRG4_uc010vig.1_Missense_Mutation_p.S55C|NDRG4_uc010vih.1_5'UTR|NDRG4_uc010vii.1_Missense_Mutation_p.S43C|NDRG4_uc002enp.2_Missense_Mutation_p.S25C|NDRG4_uc002enq.1_5'Flank	p.S25C	NM_022910	NP_075061	Q9ULP0	NDRG4_HUMAN			2	180	+			25					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Missense_Mutation	SNP	ENST00000570248.1	37	c.74C>G	CCDS58466.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154745	0.78114	.	.	ENSG00000103034	ENST00000258187;ENST00000394282;ENST00000394279;ENST00000356752	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.4	4.4	0.53042	.	0.122378	0.56097	D	0.000030	T	0.28433	0.0703	L	0.38175	1.15	0.41798	D	0.989905	P;P;P;P;P;P;B	0.47545	0.831;0.897;0.828;0.545;0.794;0.545;0.32	P;P;P;B;B;B;B	0.57548	0.81;0.823;0.792;0.192;0.361;0.267;0.128	T	0.04373	-1.0956	10	0.72032	D	0.01	-27.5424	15.5745	0.76365	0.0:1.0:0.0:0.0	.	43;55;25;25;25;77;57	B4DK66;B4DSW5;Q9ULP0-5;Q9ULP0-2;Q9ULP0;Q9ULP0-6;Q9ULP0-3	.;.;.;.;NDRG4_HUMAN;.;.	C	57;77;57;55	ENSP00000258187:S57C;ENSP00000377823:S77C;ENSP00000377820:S57C;ENSP00000349193:S55C	ENSP00000258187:S57C	S	+	2	0	NDRG4	57095255	0.931000	0.31567	1.000000	0.80357	0.995000	0.86356	2.989000	0.49393	1.993000	0.58246	0.555000	0.69702	TCC		0.622	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2				10	71	0	0	0	0.080935	0	10	71		
TK2	7084	broad.mit.edu	37	16	66584022	66584022	+	5'UTR	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:66584022G>C	ENST00000451102.2	-	0	293				CKLF_ENST00000362093.4_5'Flank|CKLF-CMTM1_ENST00000532838.1_5'Flank|CKLF_ENST00000351137.4_5'Flank|TK2_ENST00000527284.1_Intron|Y_RNA_ENST00000563151.1_lincRNA|CKLF_ENST00000264001.4_5'Flank|TK2_ENST00000563369.2_5'Flank|CKLF_ENST00000345436.4_5'Flank|CKLF-CMTM1_ENST00000527729.1_5'Flank|CKLF_ENST00000417030.2_5'Flank|TK2_ENST00000544898.1_5'UTR|TK2_ENST00000299697.7_Silent_p.V23V|TK2_ENST00000417693.3_5'UTR|TK2_ENST00000527800.1_5'Flank|TK2_ENST00000564917.1_5'Flank|TK2_ENST00000525974.1_5'Flank|TK2_ENST00000545043.2_5'UTR			O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial						deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|DNA replication (GO:0006260)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|thymidine kinase activity (GO:0004797)	p.V23V(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		CGGCGCGGACGACTGCTAGTC	0.682																																						uc002eos.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(67-69)GTC>GTG		thymidine kinase 2, mitochondrial							9.0	13.0	11.0					16																	66584022		2148	4231	6379	SO:0001623	5_prime_UTR_variant	7084				pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity	g.chr16:66584022G>C		CCDS10805.1, CCDS10805.2, CCDS54016.1, CCDS54017.1, CCDS54018.1, CCDS61955.1	16q22-q23.1	2012-10-02			ENSG00000166548	ENSG00000166548	2.7.1.21		11831	protein-coding gene	gene with protein product		188250					Standard	NM_004614		Approved		uc002eos.3	O00142	OTTHUMG00000137499	ENST00000451102.2:c.-58C>G	16.37:g.66584022G>C						TK2_uc010vip.1_5'Flank|TK2_uc002eor.2_Intron|TK2_uc010cdq.2_Intron|TK2_uc010cdr.2_5'UTR|TK2_uc010viq.1_Silent_p.V23V|TK2_uc010vir.1_Silent_p.V23V	p.V23V	NM_004614	NP_004605	O00142	KITM_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)	1	294	-		Ovarian(137;0.0563)	Error:Variant_position_missing_in_O00142_after_alignment					B4DGJ7|B4DZK7|B7ZAB1|E9PH08|O15238	Silent	SNP	ENST00000451102.2	37	c.69C>G	CCDS10805.2																																																																																				0.682	TK2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268806.4				17	16	0	0	0	0.049695	0	17	16		
EDC4	23644	broad.mit.edu	37	16	67915727	67915727	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:67915727G>C	ENST00000358933.5	+	22	3222	c.2983G>C	c.(2983-2985)Gag>Cag	p.E995Q	CTC-479C5.10_ENST00000572067.1_lincRNA|NRN1L_ENST00000339176.3_5'Flank	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	995					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E995Q(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACGTGCCCTTGAGACTCGGCA	0.602																																						uc002eur.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)	4						c.(2983-2985)GAG>CAG		autoantigen RCD8							48.0	45.0	46.0					16																	67915727		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67915727G>C	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2983G>C	16.37:g.67915727G>C	ENSP00000351811:p.Glu995Gln					EDC4_uc010cer.2_Missense_Mutation_p.E614Q|EDC4_uc002eus.2_Missense_Mutation_p.E725Q|EDC4_uc002eut.1_5'Flank	p.E995Q	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	22	3149	+		Ovarian(137;0.0563)	995			Potential.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.2983G>C	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450517	0.26074	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.85	5.85	0.93711	.	0.382752	0.32593	N	0.005900	T	0.32912	0.0845	N	0.14661	0.345	0.23454	N	0.997641	B	0.25007	0.116	B	0.17433	0.018	T	0.07009	-1.0795	9	0.15952	T	0.53	-16.2836	19.809	0.96540	0.0:0.0:1.0:0.0	.	995	Q6P2E9	EDC4_HUMAN	Q	995	.	ENSP00000351811:E995Q	E	+	1	0	EDC4	66473228	1.000000	0.71417	0.958000	0.39756	0.819000	0.46315	3.750000	0.55157	2.787000	0.95880	0.558000	0.71614	GAG		0.602	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2		NM_014329		33	101	0	0	0	0.054565	0	33	101		
CTRL	1506	broad.mit.edu	37	16	67964633	67964633	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:67964633G>A	ENST00000574481.1	-	4	875	c.314C>T	c.(313-315)tCt>tTt	p.S105F	CTRL_ENST00000576408.1_5'Flank	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	105	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)	p.S105F(1)		kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		ACTCACCCGAGAGACGGACAG	0.607																																						uc002euw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(313-315)TCT>TTT		chymotrypsin-like precursor							71.0	72.0	72.0					16																	67964633		2198	4300	6498	SO:0001583	missense	1506				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:67964633G>A		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.314C>T	16.37:g.67964633G>A	ENSP00000458537:p.Ser105Phe						p.S105F	NM_001907	NP_001898	P40313	CTRL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	4	324	-		Ovarian(137;0.192)	105			Peptidase S1.			Missense_Mutation	SNP	ENST00000574481.1	37	c.314C>T	CCDS10852.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363899	0.61513	.	.	ENSG00000141086	ENST00000319955	.	.	.	5.3	2.17	0.27698	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.320178	0.29830	N	0.011093	T	0.53578	0.1805	M	0.67700	2.07	0.09310	N	1	P	0.40834	0.73	P	0.49561	0.615	T	0.48927	-0.8991	9	0.72032	D	0.01	-0.0045	9.2361	0.37466	0.3089:0.0:0.6911:0.0	.	105	P40313	CTRL_HUMAN	F	105	.	ENSP00000322629:S105F	S	-	2	0	CTRL	66522134	0.000000	0.05858	0.001000	0.08648	0.284000	0.27059	0.818000	0.27295	0.274000	0.22072	0.655000	0.94253	TCT		0.607	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3				38	147	0	0	0	0.080422	0	38	147		
ZFHX3	463	broad.mit.edu	37	16	72923775	72923775	+	Silent	SNP	G	G	C	rs375352831		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:72923775G>C	ENST00000268489.5	-	4	3975	c.3303C>G	c.(3301-3303)ctC>ctG	p.L1101L	ZFHX3_ENST00000397992.5_Silent_p.L187L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1101					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L1101L(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGATGAGGTTGAGCTTGGCCT	0.572																																						uc002fck.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(3301-3303)CTC>CTG		zinc finger homeobox 3 isoform A							111.0	78.0	89.0					16																	72923775		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72923775G>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3303C>G	16.37:g.72923775G>C						ZFHX3_uc002fcl.2_Silent_p.L187L	p.L1101L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			4	3976	-		Ovarian(137;0.13)	1101			C2H2-type 9; atypical.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.3303C>G	CCDS10908.1																																																																																				0.572	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1		NM_006885		12	119	0	0	0	0.09319	0	12	119		
PKD1L2	114780	broad.mit.edu	37	16	81194452	81194452	+	RNA	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:81194452C>A	ENST00000525539.1	-	0	3535				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.S1179I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGCTTCAGGACTGGTCAGGTT	0.552																																						uc002fgh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3535-3537)AGT>ATT		polycystin 1-like 2 isoform a							103.0	107.0	105.0					16																	81194452		2116	4238	6354			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81194452C>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81194452C>A						PKD1L2_uc002fgg.1_RNA	p.S1179I	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			22	3536	-			1179			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.3536G>T																																																																																					0.552	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2				9	32	1	0	4.68919e-08	0.069234	4.84313e-08	9	32		
GSE1	23199	broad.mit.edu	37	16	85701811	85701811	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:85701811C>G	ENST00000253458.7	+	14	3372	c.3196C>G	c.(3196-3198)Cct>Gct	p.P1066A	GSE1_ENST00000405402.2_Missense_Mutation_p.P962A|GSE1_ENST00000393243.1_Missense_Mutation_p.P993A	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1066								p.P1066A(1)									CTACAACATTCCTGAGCTGCA	0.637																																						uc002fix.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(3196-3198)CCT>GCT		genetic suppressor element 1 isoform 1							127.0	125.0	125.0					16																	85701811		2198	4300	6498	SO:0001583	missense	23199						protein binding	g.chr16:85701811C>G	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3196C>G	16.37:g.85701811C>G	ENSP00000253458:p.Pro1066Ala					KIAA0182_uc002fiw.2_Missense_Mutation_p.P962A|KIAA0182_uc002fiy.2_Missense_Mutation_p.P993A|KIAA0182_uc002fiz.2_Missense_Mutation_p.P208A|KIAA0182_uc010cho.2_Missense_Mutation_p.P246A	p.P1066A	NM_014615	NP_055430	Q14687	GSE1_HUMAN			14	3270	+			1066					D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.3196C>G	CCDS10952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.96|16.96	3.265540|3.265540	0.59431|0.59431	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000412692;ENST00000438180|ENST00000405402;ENST00000253458;ENST00000393243	.|T;T;T	.|0.36699	.|1.25;1.26;1.24	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52837|0.52837	0.1759|0.1759	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D	.|0.89917	.|0.997;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.913;0.999;0.999;0.998	T|T	0.48906|0.48906	-0.8993|-0.8993	5|10	.|0.46703	.|T	.|0.11	-17.2817|-17.2817	19.4728|19.4728	0.94969|0.94969	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|829;962;993;1066	.|Q59GZ0;Q14687-2;Q14687-3;Q14687	.|.;.;.;GSE1_HUMAN	L|A	834;267|962;1066;993	.|ENSP00000384839:P962A;ENSP00000253458:P1066A;ENSP00000376934:P993A	.|ENSP00000253458:P1066A	F|P	+|+	3|1	2|0	KIAA0182|KIAA0182	84259312|84259312	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.385000|0.385000	0.30292|0.30292	7.286000|7.286000	0.78671|0.78671	2.608000|2.608000	0.88229|0.88229	0.561000|0.561000	0.74099|0.74099	TTC|CCT		0.637	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1		NM_014615		43	109	0	0	0	0.039052	0	43	109		
FANCA	2175	broad.mit.edu	37	16	89805349	89805349	+	Missense_Mutation	SNP	G	G	C	rs566927763		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:89805349G>C	ENST00000389301.3	-	42	4231	c.4201C>G	c.(4201-4203)Ctt>Gtt	p.L1401V	ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.S1402C	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1401					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L1401V(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGCAGAAAAAGACGAGCTTTT	0.512			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G|||	1	0.000199681	0.0008	0.0	5008	,	,		22469	0.0		0.0	False		,,,				2504	0.0					uc002fou.1		NaN	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(4201-4203)CTT>GTT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							88.0	92.0	91.0					16																	89805349		2198	4300	6498	SO:0001583	missense	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89805349G>C	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.4201C>G	16.37:g.89805349G>C	ENSP00000373952:p.Leu1401Val					ZNF276_uc010ciq.2_3'UTR|ZNF276_uc002foq.3_3'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_3'UTR|ZNF276_uc010cis.2_3'UTR|ZNF276_uc002fos.3_3'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_3'UTR|FANCA_uc010vpn.1_Missense_Mutation_p.S1402C	p.L1401V	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	42	4243	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1401					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.4201C>G	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	5.773	0.327076	0.10900	.	.	ENSG00000187741	ENST00000389301	D	0.84516	-1.86	5.39	-0.233	0.13078	.	1.135000	0.06603	N	0.754191	T	0.72471	0.3464	L	0.29908	0.895	0.09310	N	1	B	0.17852	0.024	B	0.10450	0.005	T	0.52808	-0.8526	10	0.13853	T	0.58	-0.1372	3.8895	0.09113	0.0754:0.2524:0.4125:0.2597	.	1401	O15360	FANCA_HUMAN	V	1401	ENSP00000373952:L1401V	ENSP00000373952:L1401V	L	-	1	0	FANCA	88332850	0.000000	0.05858	0.000000	0.03702	0.945000	0.59286	-0.211000	0.09332	-0.004000	0.14419	0.650000	0.86243	CTT		0.512	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1				70	63	0	0	0	0.048971	0	70	63		
C17orf85	55421	broad.mit.edu	37	17	3721711	3721711	+	Missense_Mutation	SNP	G	G	A	rs372415582		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:3721711G>A	ENST00000389005.4	-	10	1183	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	C17orf85_ENST00000158149.3_Missense_Mutation_p.R106W	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	386							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R106W(1)|p.R386W(1)		endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GACGCGCTCCGCTCCCGGGGC	0.527																																						uc010ckl.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(1156-1158)CGG>TGG		ELG protein isoform a							86.0	86.0	86.0					17																	3721711		2203	4300	6503	SO:0001583	missense	55421						nucleotide binding	g.chr17:3721711G>A		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1156C>T	17.37:g.3721711G>A	ENSP00000373657:p.Arg386Trp					C17orf85_uc002fwr.2_Missense_Mutation_p.R96W|C17orf85_uc002fwq.2_Missense_Mutation_p.R106W	p.R386W	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	10	1179	-			386					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	ENST00000389005.4	37	c.1156C>T	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171421	0.57584	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.85	4.86	0.63082	.	0.048104	0.85682	D	0.000000	T	0.65196	0.2668	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.68085	-0.5502	9	0.66056	D	0.02	-10.7021	12.5236	0.56073	0.0:0.0:0.8334:0.1666	.	386	Q53F19	CQ085_HUMAN	W	386;106	.	ENSP00000158149:R106W	R	-	1	2	C17orf85	3668460	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	2.439000	0.44846	1.575000	0.49775	0.655000	0.94253	CGG		0.527	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1		NM_018553		33	93	0	0	0	0.069456	0	33	93		
ZNF594	84622	broad.mit.edu	37	17	5085754	5085754	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:5085754C>G	ENST00000399604.4	-	1	1938	c.1798G>C	c.(1798-1800)Gaa>Caa	p.E600Q	ZNF594_ENST00000575779.1_Missense_Mutation_p.E600Q			Q96JF6	ZN594_HUMAN	zinc finger protein 594	600					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E600Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCCCACATTCTTTGCATTCA	0.408																																						uc010cla.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1798-1800)GAA>CAA		zinc finger protein 594							164.0	166.0	165.0					17																	5085754		2031	4210	6241	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085754C>G	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1798G>C	17.37:g.5085754C>G	ENSP00000382513:p.Glu600Gln						p.E600Q	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	1954	-			600			C2H2-type 18.		Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.1798G>C	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	c	3.857	-0.030595	0.07543	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.07444	3.19	1.26	0.118	0.14667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04952	0.0133	N	0.16602	0.42	0.09310	N	1	P	0.36837	0.571	B	0.39152	0.292	T	0.43605	-0.9381	9	0.21014	T	0.42	.	5.4317	0.16456	0.0:0.7843:0.0:0.2157	.	600	Q96JF6	ZN594_HUMAN	Q	600;195	ENSP00000382513:E600Q	ENSP00000373874:E195Q	E	-	1	0	ZNF594	5026478	0.000000	0.05858	0.002000	0.10522	0.204000	0.24138	0.023000	0.13533	-0.155000	0.11098	0.184000	0.17185	GAA		0.408	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1		XM_290737		175	136	0	0	0	0.048971	0	175	136		
TP53	7157	broad.mit.edu	37	17	7578449	7578449	+	Missense_Mutation	SNP	C	C	T	rs193920817		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:7578449C>T	ENST00000269305.4	-	5	670	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	TP53_ENST00000413465.2_Missense_Mutation_p.A161T|TP53_ENST00000359597.4_Missense_Mutation_p.A161T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.A161T|TP53_ENST00000455263.2_Missense_Mutation_p.A161T|TP53_ENST00000445888.2_Missense_Mutation_p.A161T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	161	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A161T(54)|p.0?(8)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTGTAGATGGCCATGGCGCGG	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		96	Substitution - Missense(63)|Deletion - Frameshift(10)|Deletion - In frame(9)|Whole gene deletion(8)|Complex - frameshift(3)|Insertion - Frameshift(2)|Complex - compound substitution(1)	p.A161T(44)|p.A161D(8)|p.0?(7)|p.A161V(7)|p.A161A(5)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.A161G(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)	lung(15)|large_intestine(13)|urinary_tract(8)|stomach(7)|central_nervous_system(7)|upper_aerodigestive_tract(6)|oesophagus(6)|pancreas(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|bone(4)|liver(4)|breast(3)|ovary(3)|thyroid(1)|meninges(1)|peritoneum(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(481-483)GCC>ACC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							52.0	53.0	53.0					17																	7578449		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578449C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.481G>A	17.37:g.7578449C>T	ENSP00000269305:p.Ala161Thr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.A161T|TP53_uc002gih.2_Missense_Mutation_p.A161T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A29T|TP53_uc010cng.1_Missense_Mutation_p.A29T|TP53_uc002gii.1_Missense_Mutation_p.A29T|TP53_uc010cnh.1_Missense_Mutation_p.A161T|TP53_uc010cni.1_Missense_Mutation_p.A161T|TP53_uc002gij.2_Missense_Mutation_p.A161T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A68T|TP53_uc002gio.2_Missense_Mutation_p.A29T|TP53_uc010vug.1_Missense_Mutation_p.A122T	p.A161T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	675	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	161		MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> T (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.481G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048421	0.55110	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	5.59	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99816	0.9919	M	0.86420	2.815	0.50313	D	0.999869	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.975;0.998;0.999;1.0;1.0	D	0.96744	0.9549	10	0.72032	D	0.01	-25.6622	14.7187	0.69289	0.0:0.8543:0.1457:0.0	.	122;161;161;68;161;161;161	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	161;161;161;161;161;161;150;68;29;68;29;161	ENSP00000410739:A161T;ENSP00000352610:A161T;ENSP00000269305:A161T;ENSP00000398846:A161T;ENSP00000391127:A161T;ENSP00000391478:A161T;ENSP00000425104:A29T;ENSP00000423862:A68T;ENSP00000424104:A161T	ENSP00000269305:A161T	A	-	1	0	TP53	7519174	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	1.014000	0.29950	1.498000	0.48600	0.655000	0.94253	GCC		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		40	39	0	0	0	0.09836	0	40	39		
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:16285788C>T	ENST00000395837.1	+	2	748	c.567C>T	c.(565-567)ccC>ccT	p.P189P	UBB_ENST00000302182.3_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000395839.1_Silent_p.P189P	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	189	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552																																					Melanoma(163;1126 3406 34901)	uc002gpx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(3)	3						c.(565-567)CCC>CCT		ubiquitin B precursor							55.0	59.0	58.0					17																	16285788		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285788C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.567C>T	17.37:g.16285788C>T						UBB_uc010vwe.1_Silent_p.P113P	p.P189P	NM_018955	NP_061828	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	705	+			189			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.567C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1		NM_018955		3	65	0	0	0	0.004672	0	3	65		
CCDC144A	9720	broad.mit.edu	37	17	16623915	16623915	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:16623915C>T	ENST00000360524.8	+	8	1910	c.1834C>T	c.(1834-1836)Cac>Tac	p.H612Y	CCDC144A_ENST00000456009.1_Missense_Mutation_p.H332Y|CCDC144A_ENST00000399273.1_Missense_Mutation_p.H612Y|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.H612Y|CCDC144A_ENST00000443444.2_Missense_Mutation_p.H612Y	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	612								p.H612Y(1)									TGAATTGTCTCACTCTGTTTA	0.373																																						uc002gqk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1834-1836)CAC>TAC		coiled-coil domain containing 144A							34.0	34.0	34.0					17																	16623915		1818	4063	5881	SO:0001583	missense	9720							g.chr17:16623915C>T	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1834C>T	17.37:g.16623915C>T	ENSP00000353717:p.His612Tyr					CCDC144A_uc002gql.1_Missense_Mutation_p.H82Y|LOC162632_uc010cpj.1_RNA	p.H612Y	NM_014695	NP_055510	A2RUR9	C144A_HUMAN			8	1910	+			612					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.1834C>T	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.847845	0.00067	.	.	ENSG00000170160	ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	1.95	-3.91	0.04168	.	.	.	.	.	T	0.10637	0.0260	N	0.12569	0.235	0.09310	N	1	B;B	0.16802	0.019;0.011	B;B	0.20955	0.032;0.006	T	0.33497	-0.9866	9	0.02654	T	1	.	2.8925	0.05680	0.2204:0.4594:0.0:0.3202	.	332;612	A2RUR9-3;A2RUR9	.;C144A_HUMAN	Y	612;612;612;612;332;612	ENSP00000382215:H612Y;ENSP00000439262:H612Y;ENSP00000440655:H612Y;ENSP00000353717:H612Y;ENSP00000394201:H332Y;ENSP00000353685:H612Y	ENSP00000353685:H612Y	H	+	1	0	CCDC144A	16564640	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.627000	0.05521	-0.994000	0.03463	0.184000	0.17185	CAC		0.373	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1				5	40	0	0	0	0.02938	0	5	40		
DRG2	1819	broad.mit.edu	37	17	18004839	18004839	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:18004839G>C	ENST00000225729.3	+	8	802	c.664G>C	c.(664-666)Gac>Cac	p.D222H	DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Missense_Mutation_p.D222H	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	222	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.D222H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TTTCCGAGAAGACTGCTCCCC	0.607																																						uc002gsh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(664-666)GAC>CAC		developmentally regulated GTP binding protein 2							99.0	96.0	97.0					17																	18004839		2203	4300	6503	SO:0001583	missense	1819				signal transduction		GTP binding	g.chr17:18004839G>C	X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"""developmentally regulated GTP-binding protein 2"""			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.664G>C	17.37:g.18004839G>C	ENSP00000225729:p.Asp222His					DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.D222H	p.D222H	NM_001388	NP_001379	P55039	DRG2_HUMAN			8	719	+	all_neural(463;0.228)		222					B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	37	c.664G>C	CCDS11191.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.401222	0.62288	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.38560	1.13;1.13	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.78898	0.4356	H	0.97635	4.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86098	0.1554	10	0.87932	D	0	-29.9376	19.8574	0.96764	0.0:0.0:1.0:0.0	.	222;222	A8MZF9;P55039	.;DRG2_HUMAN	H	222	ENSP00000379076:D222H;ENSP00000225729:D222H	ENSP00000225729:D222H	D	+	1	0	DRG2	17945564	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.747000	0.98863	2.699000	0.92147	0.557000	0.71058	GAC		0.607	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3		NM_001388		31	45	0	0	0	0.054565	0	31	45		
DRG2	1819	broad.mit.edu	37	17	18005268	18005268	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:18005268G>A	ENST00000225729.3	+	9	901	c.763G>A	c.(763-765)Gag>Aag	p.E255K	DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Missense_Mutation_p.E255K	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	255	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.E255K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					CTCCATGGAAGAGGTGGACCG	0.567																																						uc002gsh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(763-765)GAG>AAG		developmentally regulated GTP binding protein 2																																				SO:0001583	missense	1819				signal transduction		GTP binding	g.chr17:18005268G>A	X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"""developmentally regulated GTP-binding protein 2"""			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.763G>A	17.37:g.18005268G>A	ENSP00000225729:p.Glu255Lys					DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.E255K	p.E255K	NM_001388	NP_001379	P55039	DRG2_HUMAN			9	818	+	all_neural(463;0.228)		255					B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	37	c.763G>A	CCDS11191.1	.	.	.	.	.	.	.	.	.	.	G	36	5.848662	0.97023	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.18174	2.23;2.23	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.51109	0.1655	H	0.94847	3.59	0.80722	D	1	D;D	0.61080	0.989;0.968	P;P	0.57548	0.823;0.823	T	0.66881	-0.5811	10	0.87932	D	0	-16.2281	19.2157	0.93776	0.0:0.0:1.0:0.0	.	255;255	A8MZF9;P55039	.;DRG2_HUMAN	K	255	ENSP00000379076:E255K;ENSP00000225729:E255K	ENSP00000225729:E255K	E	+	1	0	DRG2	17945993	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.747000	0.98863	2.547000	0.85894	0.563000	0.77884	GAG		0.567	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3		NM_001388		16	8	0	0	0	0.038395	0	16	8		
CCDC144B	284047	broad.mit.edu	37	17	18498091	18498091	+	RNA	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:18498091G>A	ENST00000442583.1	-	0	867							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						TAAACAGAGTGAGACAATTCA	0.373																																						uc002gub.1		NaN																	0				ovary(1)|skin(1)	2						c.(1834-1836)CAC>TAC		coiled-coil domain containing 144B							27.0	40.0	36.0					17																	18498091		1788	4044	5832			284047							g.chr17:18498091G>A	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"""coiled-coil domain containing 144B"""			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18498091G>A						CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA	p.H612Y	NM_182568	NP_872374					8	1919	-								Q6P5Q3|Q8N200	Missense_Mutation	SNP	ENST00000442583.1	37	c.1834C>T																																																																																					0.373	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1		NM_182568		6	50	0	0	0	0.038147	0	6	50		
SSH2	85464	broad.mit.edu	37	17	27975200	27975200	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:27975200C>G	ENST00000269033.3	-	13	1459	c.1308G>C	c.(1306-1308)atG>atC	p.M436I	RP11-68I3.11_ENST00000582881.1_RNA|RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.M463I	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	436	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.M436I(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGTTGTCTCATGAAGCTTG	0.458																																						uc002heo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(1306-1308)ATG>ATC		slingshot 2							161.0	153.0	156.0					17																	27975200		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27975200C>G	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1308G>C	17.37:g.27975200C>G	ENSP00000269033:p.Met436Ile					SSH2_uc010wbh.1_Missense_Mutation_p.M463I|SSH2_uc002hep.1_Missense_Mutation_p.M436I	p.M436I	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			13	1308	-			436			Tyrosine-protein phosphatase.		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.1308G>C	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600627	0.87055	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.58940	0.3;0.3	5.84	5.84	0.93424	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.036742	0.85682	D	0.000000	T	0.56630	0.1998	L	0.28400	0.85	0.80722	D	1	B;B;B	0.25048	0.096;0.046;0.117	B;B;B	0.36608	0.147;0.053;0.229	T	0.55055	-0.8200	10	0.62326	D	0.03	-16.2523	20.1346	0.98019	0.0:1.0:0.0:0.0	.	463;436;436	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	I	436;463;436	ENSP00000269033:M436I;ENSP00000444743:M463I	ENSP00000269033:M436I	M	-	3	0	SSH2	24999326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.765000	0.95021	0.655000	0.94253	ATG		0.458	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1		NM_033389		70	151	0	0	0	0.048971	0	70	151		
SLC35G3	146861	broad.mit.edu	37	17	33520323	33520323	+	Missense_Mutation	SNP	C	C	T	rs369787605		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:33520323C>T	ENST00000297307.5	-	1	1089	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	335						integral component of membrane (GO:0016021)		p.R335K(4)									CTCCTCCACCCTCCCTGTCCT	0.557																																						uc002hjd.2		NaN																	4	Substitution - Missense(4)		lung(2)|urinary_tract(1)|prostate(1)		0						c.(1003-1005)AGG>AAG		acyl-malonyl condensing enzyme 1							57.0	57.0	57.0					17																	33520323		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520323C>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.1004G>A	17.37:g.33520323C>T	ENSP00000297307:p.Arg335Lys						p.R335K	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	1090	-			335					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.1004G>A	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.031780	0.00410	.	.	ENSG00000164729	ENST00000297307	T	0.24723	1.84	.	.	.	.	1.165660	0.06508	N	0.737480	T	0.10723	0.0262	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	8	0.07990	T	0.79	0.0	.	.	.	.	335	Q8N808	S35G3_HUMAN	K	335	ENSP00000297307:R335K	ENSP00000297307:R335K	R	-	2	0	SLC35G3	30544436	0.002000	0.14202	0.046000	0.18839	0.046000	0.14306	-1.876000	0.01633	-2.037000	0.00920	-2.088000	0.00374	AGG		0.557	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2		NM_152462		3	80	0	0	0	0.004672	0	3	80		
ERBB2	2064	broad.mit.edu	37	17	37868216	37868216	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:37868216C>G	ENST00000269571.5	+	8	1096	c.937C>G	c.(937-939)Ctc>Gtc	p.L313V	ERBB2_ENST00000541774.1_Missense_Mutation_p.L298V|ERBB2_ENST00000540042.1_Missense_Mutation_p.L283V|ERBB2_ENST00000445658.2_Missense_Mutation_p.L37V|ERBB2_ENST00000578199.1_Missense_Mutation_p.L283V|ERBB2_ENST00000540147.1_Missense_Mutation_p.L283V|ERBB2_ENST00000584601.1_Missense_Mutation_p.L283V|ERBB2_ENST00000406381.2_Missense_Mutation_p.L283V|ERBB2_ENST00000584450.1_Missense_Mutation_p.L313V			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	313					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.L313V(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ATCCTGCACCCTCGTCTGCCC	0.572		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		1	Substitution - Missense(1)		urinary_tract(1)	lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(937-939)CTC>GTC		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						229.0	186.0	201.0					17																	37868216		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37868216C>G	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.937C>G	17.37:g.37868216C>G	ENSP00000269571:p.Leu313Val	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.L283V|ERBB2_uc010cwa.2_Missense_Mutation_p.L298V|ERBB2_uc002hsp.2_Missense_Mutation_p.L116V|ERBB2_uc010cwb.2_Missense_Mutation_p.L313V|ERBB2_uc010wek.1_Missense_Mutation_p.L37V|ERBB2_uc002hsl.2_Missense_Mutation_p.L283V|ERBB2_uc002hsn.1_Missense_Mutation_p.L313V	p.L313V	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	8	1175	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	313			Extracellular (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.937C>G	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325348	0.24080	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.83	3.8	0.43715	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.63745	0.2537	L	0.55481	1.735	0.47407	D	0.999411	P;P;P;P;B	0.46457	0.499;0.878;0.878;0.519;0.057	B;P;P;P;B	0.50231	0.139;0.635;0.613;0.495;0.039	T	0.63301	-0.6668	9	0.59425	D	0.04	.	8.8326	0.35093	0.0:0.7452:0.0:0.2548	.	37;283;298;313;313	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	V	283;298;37;313;283;283	ENSP00000385185:L283V;ENSP00000446466:L298V;ENSP00000404047:L37V;ENSP00000269571:L313V;ENSP00000443562:L283V;ENSP00000446382:L283V	ENSP00000269571:L313V	L	+	1	0	ERBB2	35121742	0.756000	0.28383	0.989000	0.46669	0.673000	0.39480	1.174000	0.31932	0.755000	0.32990	0.491000	0.48974	CTC		0.572	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2				837	31	0	0	0	0.048971	0	837	31		
ANKRD40	91369	broad.mit.edu	37	17	48776867	48776867	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:48776867G>C	ENST00000285243.6	-	3	940	c.671C>G	c.(670-672)cCg>cGg	p.P224R	Y_RNA_ENST00000364470.1_RNA	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	224	Pro-rich.							p.P224Q(1)|p.P224R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			TGGCTTGGACGGGACAGAAGA	0.527																																						uc002iso.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)		0						c.(670-672)CCG>CGG		ankyrin repeat domain 40							117.0	125.0	122.0					17																	48776867		2203	4300	6503	SO:0001583	missense	91369							g.chr17:48776867G>C	BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"""Ankyrin repeat domain containing"""	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.671C>G	17.37:g.48776867G>C	ENSP00000285243:p.Pro224Arg						p.P224R	NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.03e-09)		3	926	-			224			Pro-rich.		Q96E32	Missense_Mutation	SNP	ENST00000285243.6	37	c.671C>G	CCDS11572.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.817954	0.50633	.	.	ENSG00000154945	ENST00000285243	T	0.23552	1.9	4.9	4.9	0.64082	.	0.474536	0.23920	N	0.043242	T	0.26810	0.0656	L	0.44542	1.39	0.35935	D	0.83278	P	0.34724	0.465	B	0.37780	0.258	T	0.37798	-0.9690	10	0.72032	D	0.01	-6.26	13.9441	0.64073	0.0:0.1512:0.8488:0.0	.	224	Q6AI12	ANR40_HUMAN	R	224	ENSP00000285243:P224R	ENSP00000285243:P224R	P	-	2	0	ANKRD40	46131866	1.000000	0.71417	0.989000	0.46669	0.947000	0.59692	3.619000	0.54196	2.417000	0.82017	0.650000	0.86243	CCG		0.527	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368201.2		NM_052855		27	94	0	0	0	0.054565	0	27	94		
TEX14	56155	broad.mit.edu	37	17	56671019	56671019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:56671019G>A	ENST00000240361.8	-	15	2576	c.2491C>T	c.(2491-2493)Ccg>Tcg	p.P831S	TEX14_ENST00000389934.3_Missense_Mutation_p.P825S|TEX14_ENST00000349033.5_Missense_Mutation_p.P825S			Q8IWB6	TEX14_HUMAN	testis expressed 14	831					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.P831S(1)|p.P825S(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAAAGAGTCGGCAGCTTAAAA	0.408																																						uc010dcz.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(2491-2493)CCG>TCG		testis expressed sequence 14 isoform a							114.0	98.0	103.0					17																	56671019		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56671019G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2491C>T	17.37:g.56671019G>A	ENSP00000240361:p.Pro831Ser					TEX14_uc002iwr.1_Missense_Mutation_p.P825S|TEX14_uc002iws.1_Missense_Mutation_p.P825S|TEX14_uc010dda.1_Missense_Mutation_p.P605S	p.P831S	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			15	2609	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		831					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.2491C>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.240060	0.00274	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.77358	-1.09;-1.09;-1.06	4.78	-3.12	0.05282	.	1.498750	0.03531	N	0.222447	T	0.58694	0.2140	N	0.20685	0.6	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.001;0.002;0.002	T	0.35076	-0.9803	10	0.33940	T	0.23	0.2709	1.5658	0.02604	0.44:0.1415:0.2739:0.1446	.	831;825;825	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	S	831;825;825	ENSP00000240361:P831S;ENSP00000374584:P825S;ENSP00000268910:P825S	ENSP00000240361:P831S	P	-	1	0	TEX14	54026018	0.000000	0.05858	0.003000	0.11579	0.025000	0.11179	0.062000	0.14389	-0.391000	0.07763	-1.012000	0.02466	CCG		0.408	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1				4	81	0	0	0	0.009096	0	4	81		
KCNH6	81033	broad.mit.edu	37	17	61611504	61611504	+	Silent	SNP	C	C	T	rs201683221	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:61611504C>T	ENST00000583023.1	+	5	944	c.933C>T	c.(931-933)ttC>ttT	p.F311F	KCNH6_ENST00000314672.5_Silent_p.F311F|KCNH6_ENST00000581784.1_Silent_p.F311F|KCNH6_ENST00000580652.1_Silent_p.F311F|KCNH6_ENST00000456941.2_Silent_p.F311F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	311					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.F311F(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACATCATGTTCGTCGTGGACA	0.587																																						uc002jay.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(931-933)TTC>TTT		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						246.0	208.0	221.0					17																	61611504		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61611504C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.933C>T	17.37:g.61611504C>T						KCNH6_uc002jax.1_Silent_p.F311F|KCNH6_uc010wpl.1_Silent_p.F188F|KCNH6_uc010wpm.1_Silent_p.F311F|KCNH6_uc002jaz.1_Silent_p.F311F	p.F311F	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			5	1013	+			311			Helical; Name=Segment S2; (Potential).		Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.933C>T	CCDS11638.1																																																																																				0.587	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1		NM_030779		24	353	0	0	0	0.099896	0	24	353		
ABCA10	10349	broad.mit.edu	37	17	67178946	67178946	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:67178946G>C	ENST00000269081.4	-	22	3410	c.2501C>G	c.(2500-2502)tCa>tGa	p.S834*	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	834					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S834*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTCAATATTTGATCCTAACAT	0.333																																						uc010dfa.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2500-2502)TCA>TGA		ATP-binding cassette, sub-family A, member 10							130.0	137.0	135.0					17																	67178946		2203	4300	6503	SO:0001587	stop_gained	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67178946G>C	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2501C>G	17.37:g.67178946G>C	ENSP00000269081:p.Ser834*					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Nonsense_Mutation_p.S435*	p.S834*	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			22	3380	-	Breast(10;6.95e-12)		834					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Nonsense_Mutation	SNP	ENST00000269081.4	37	c.2501C>G	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	45	11.941950	0.99620	.	.	ENSG00000154263	ENST00000269081	.	.	.	3.07	3.07	0.35406	.	0.000000	0.29616	U	0.011653	.	.	.	.	.	.	0.54753	D	0.999988	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.1507	0.59488	0.0:0.0:1.0:0.0	.	.	.	.	X	834	.	ENSP00000269081:S834X	S	-	2	0	ABCA10	64690541	0.895000	0.30542	0.023000	0.16930	0.111000	0.19643	3.725000	0.54970	1.720000	0.51447	0.514000	0.50259	TCA		0.333	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4		NM_080282		8	47	0	0	0	0.038147	0	8	47		
DNAI2	64446	broad.mit.edu	37	17	72297252	72297252	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:72297252A>G	ENST00000311014.6	+	8	999	c.932A>G	c.(931-933)aAg>aGg	p.K311R	DNAI2_ENST00000579490.1_Missense_Mutation_p.K368R|DNAI2_ENST00000446837.2_Missense_Mutation_p.K311R|DNAI2_ENST00000582036.1_Missense_Mutation_p.K311R|DNAI2_ENST00000307504.5_Missense_Mutation_p.K168R			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	311					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.K311R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ATCACCAAGAAGGAACAGTTG	0.547									Kartagener syndrome																													uc002jkf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(931-933)AAG>AGG		dynein, axonemal, intermediate polypeptide 2							216.0	188.0	198.0					17																	72297252		2203	4300	6503	SO:0001583	missense	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72297252A>G	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.932A>G	17.37:g.72297252A>G	ENSP00000308312:p.Lys311Arg					DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	p.K311R	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			8	1031	+			311					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.932A>G	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192180	0.38707	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.18960	2.18;2.18;2.18	5.56	4.47	0.54385	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.144207	0.64402	D	0.000004	T	0.28995	0.0720	M	0.80028	2.48	0.47183	D	0.999348	P	0.43885	0.82	B	0.43018	0.405	T	0.07731	-1.0757	10	0.25751	T	0.34	-64.0236	11.7806	0.52013	0.9298:0.0:0.0702:0.0	.	311	Q9GZS0	DNAI2_HUMAN	R	311;168;311	ENSP00000308312:K311R;ENSP00000302929:K168R;ENSP00000400252:K311R	ENSP00000302929:K168R	K	+	2	0	DNAI2	69808847	1.000000	0.71417	0.989000	0.46669	0.280000	0.26924	7.108000	0.77055	2.123000	0.65237	0.529000	0.55759	AAG		0.547	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1		NM_023036		103	172	0	0	0	0.048971	0	103	172		
EIF4A3	9775	broad.mit.edu	37	17	78118038	78118038	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:78118038C>G	ENST00000269349.3	-	2	396	c.175G>C	c.(175-177)Gaa>Caa	p.E59Q		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	59					ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)	p.E59Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GATGGTTTTTCAAAACCTGCA	0.468																																						uc010wuc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(175-177)GAA>CAA		eukaryotic translation initiation factor 4A,							109.0	84.0	92.0					17																	78118038		2203	4300	6503	SO:0001583	missense	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78118038C>G	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.175G>C	17.37:g.78118038C>G	ENSP00000269349:p.Glu59Gln					EIF4A3_uc002jxs.2_Missense_Mutation_p.E59Q	p.E59Q	NM_014740	NP_055555	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		3	248	-	all_neural(118;0.117)		59			Q motif.		Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	ENST00000269349.3	37	c.175G>C	CCDS11767.1	.	.	.	.	.	.	.	.	.	.	c	28.2	4.900756	0.92035	.	.	ENSG00000141543	ENST00000269349	T	0.28895	1.59	5.59	5.59	0.84812	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.80183	2.485	0.80722	D	1	B	0.32051	0.354	B	0.28709	0.093	T	0.41840	-0.9486	10	0.87932	D	0	-8.0146	17.0637	0.86554	0.0:1.0:0.0:0.0	.	59	P38919	IF4A3_HUMAN	Q	59	ENSP00000269349:E59Q	ENSP00000269349:E59Q	E	-	1	0	EIF4A3	75732633	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	7.074000	0.76791	2.623000	0.88846	0.650000	0.86243	GAA		0.468	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1		NM_014740		7	70	0	0	0	0.02938	0	7	70		
CEP131	22994	broad.mit.edu	37	17	79164797	79164797	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:79164797C>G	ENST00000269392.4	-	23	3109	c.2862G>C	c.(2860-2862)ctG>ctC	p.L954L	AZI1_ENST00000374782.3_Silent_p.L915L|AZI1_ENST00000575907.1_Silent_p.L918L|AZI1_ENST00000450824.2_Silent_p.L951L	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		954					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.L951L(1)|p.L915L(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTGGCCCTTCAGCTCCGAGC	0.677																																						uc002jzp.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(2860-2862)CTG>CTC		5-azacytidine induced 1 isoform a							35.0	43.0	40.0					17																	79164797		2202	4300	6502	SO:0001819	synonymous_variant	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79164797C>G																												ENST00000269392.4:c.2862G>C	17.37:g.79164797C>G						AZI1_uc002jzm.1_Silent_p.L386L|AZI1_uc002jzn.1_Silent_p.L951L|AZI1_uc002jzo.1_Silent_p.L915L|AZI1_uc010wum.1_Silent_p.L918L|AZI1_uc002jzq.2_Silent_p.L102L	p.L954L	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		23	3062	-	all_neural(118;0.0804)|Melanoma(429;0.242)		954					A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37	c.2862G>C																																																																																					0.677	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1				13	55	0	0	0	0.020292	0	13	55		
CEP131	22994	broad.mit.edu	37	17	79164838	79164838	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:79164838C>G	ENST00000269392.4	-	23	3068	c.2821G>C	c.(2821-2823)Gag>Cag	p.E941Q	AZI1_ENST00000374782.3_Missense_Mutation_p.E902Q|AZI1_ENST00000575907.1_Missense_Mutation_p.E905Q|AZI1_ENST00000450824.2_Missense_Mutation_p.E938Q	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		941					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.E938Q(1)|p.E902Q(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCCGACTGCTCCAGCTCGGAG	0.662																																						uc002jzp.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(2821-2823)GAG>CAG		5-azacytidine induced 1 isoform a							47.0	55.0	52.0					17																	79164838		2203	4300	6503	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79164838C>G																												ENST00000269392.4:c.2821G>C	17.37:g.79164838C>G	ENSP00000269392:p.Glu941Gln					AZI1_uc002jzm.1_Missense_Mutation_p.E373Q|AZI1_uc002jzn.1_Missense_Mutation_p.E938Q|AZI1_uc002jzo.1_Missense_Mutation_p.E902Q|AZI1_uc010wum.1_Missense_Mutation_p.E905Q|AZI1_uc002jzq.2_Missense_Mutation_p.E89Q	p.E941Q	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		23	3021	-	all_neural(118;0.0804)|Melanoma(429;0.242)		941					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.2821G>C		.	.	.	.	.	.	.	.	.	.	C	32	5.147153	0.94603	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.18657	2.2;2.25;2.21	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.45657	0.1353	M	0.66939	2.045	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.74023	0.963;0.916;0.982;0.982	T	0.49204	-0.8964	10	0.87932	D	0	-28.0858	17.3524	0.87327	0.0:1.0:0.0:0.0	.	938;941;902;938	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	Q	938;902;941	ENSP00000393583:E938Q;ENSP00000363914:E902Q;ENSP00000269392:E941Q	ENSP00000269392:E941Q	E	-	1	0	AZI1	76779433	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.526000	0.67116	2.346000	0.79739	0.591000	0.81541	GAG		0.662	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1				20	76	0	0	0	0.049695	0	20	76		
CEP131	22994	broad.mit.edu	37	17	79165108	79165108	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:79165108C>T	ENST00000269392.4	-	22	2906	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	AZI1_ENST00000374782.3_Missense_Mutation_p.E848K|AZI1_ENST00000575907.1_Missense_Mutation_p.E851K|AZI1_ENST00000450824.2_Missense_Mutation_p.E884K	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		887					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.E884K(1)|p.E848K(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCCCTCAGCTCCTGTTCCCGG	0.677																																						uc002jzp.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(2659-2661)GAG>AAG		5-azacytidine induced 1 isoform a							75.0	72.0	73.0					17																	79165108		2203	4300	6503	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79165108C>T																												ENST00000269392.4:c.2659G>A	17.37:g.79165108C>T	ENSP00000269392:p.Glu887Lys					AZI1_uc002jzm.1_Missense_Mutation_p.E319K|AZI1_uc002jzn.1_Missense_Mutation_p.E884K|AZI1_uc002jzo.1_Missense_Mutation_p.E848K|AZI1_uc010wum.1_Missense_Mutation_p.E851K|AZI1_uc002jzq.2_Missense_Mutation_p.E35K	p.E887K	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		22	2859	-	all_neural(118;0.0804)|Melanoma(429;0.242)		887					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.2659G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.092697	0.94149	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.17054	2.3;2.42;2.3	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	M	0.66939	2.045	0.58432	D	0.999999	D;D;D;D	0.89917	0.99;0.995;1.0;1.0	P;D;D;D	0.87578	0.851;0.928;0.998;0.998	T	0.21280	-1.0250	10	0.40728	T	0.16	-28.9805	16.7808	0.85563	0.0:1.0:0.0:0.0	.	884;887;848;884	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	K	884;848;887	ENSP00000393583:E884K;ENSP00000363914:E848K;ENSP00000269392:E887K	ENSP00000269392:E887K	E	-	1	0	AZI1	76779703	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.167000	0.77562	2.190000	0.69967	0.491000	0.48974	GAG		0.677	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1				33	94	0	0	0	0.050027	0	33	94		
CEP131	22994	broad.mit.edu	37	17	79165121	79165121	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:79165121C>T	ENST00000269392.4	-	22	2893	c.2646G>A	c.(2644-2646)ctG>ctA	p.L882L	AZI1_ENST00000374782.3_Silent_p.L843L|AZI1_ENST00000575907.1_Silent_p.L846L|AZI1_ENST00000450824.2_Silent_p.L879L	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		882					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.L843L(1)|p.L879L(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTTCCCGGTTCAGCAGCCACG	0.701																																						uc002jzp.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(2644-2646)CTG>CTA		5-azacytidine induced 1 isoform a							64.0	63.0	63.0					17																	79165121		2203	4300	6503	SO:0001819	synonymous_variant	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79165121C>T																												ENST00000269392.4:c.2646G>A	17.37:g.79165121C>T						AZI1_uc002jzm.1_Silent_p.L314L|AZI1_uc002jzn.1_Silent_p.L879L|AZI1_uc002jzo.1_Silent_p.L843L|AZI1_uc010wum.1_Silent_p.L846L|AZI1_uc002jzq.2_Silent_p.L30L	p.L882L	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		22	2846	-	all_neural(118;0.0804)|Melanoma(429;0.242)		882					A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37	c.2646G>A																																																																																					0.701	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1				23	77	0	0	0	0.083992	0	23	77		
FASN	2194	broad.mit.edu	37	17	80053331	80053331	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:80053331G>A	ENST00000306749.2	-	3	363	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	49	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R49W(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCGGACCGCCGGGGCAGGCCG	0.652																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(145-147)CGG>TGG		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						45.0	49.0	47.0					17																	80053331		2200	4300	6500	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80053331G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.145C>T	17.37:g.80053331G>A	ENSP00000304592:p.Arg49Trp						p.R49W	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		3	262	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		49			Beta-ketoacyl synthase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.145C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487806	0.64074	.	.	ENSG00000169710	ENST00000306749	T	0.32988	1.43	3.86	-1.26	0.09376	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.156417	0.37809	U	0.001928	T	0.46946	0.1419	M	0.66560	2.04	0.29737	N	0.837446	D	0.76494	0.999	D	0.65573	0.936	T	0.52859	-0.8519	10	0.87932	D	0	-28.6141	12.8375	0.57782	0.0:0.0:0.3311:0.6689	.	49	P49327	FAS_HUMAN	W	49	ENSP00000304592:R49W	ENSP00000304592:R49W	R	-	1	2	FASN	77646620	0.665000	0.27466	0.841000	0.33234	0.836000	0.47400	1.293000	0.33353	-0.034000	0.13713	0.491000	0.48974	CGG		0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1		NM_004104		32	29	0	0	0	0.074837	0	32	29		
ZNF519	162655	broad.mit.edu	37	18	14105771	14105771	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr18:14105771C>G	ENST00000590202.1	-	3	920	c.768G>C	c.(766-768)aaG>aaC	p.K256N	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	256					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K256N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TGTTAATTATCTTATGTCCCT	0.328																																						uc002kst.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(766-768)AAG>AAC		zinc finger protein 519							43.0	48.0	46.0					18																	14105771		2202	4298	6500	SO:0001583	missense	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105771C>G	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.768G>C	18.37:g.14105771C>G	ENSP00000464872:p.Lys256Asn					ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	p.K256N	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN			3	921	-			256						Missense_Mutation	SNP	ENST00000590202.1	37	c.768G>C	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	C	6.178	0.401112	0.11696	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-0.517	0.11947	.	.	.	.	.	T	0.32436	0.0829	L	0.60455	1.87	0.20489	N	0.999891	B	0.30211	0.273	B	0.23419	0.046	T	0.30119	-0.9989	8	0.87932	D	0	.	3.8367	0.08897	0.0:0.4161:0.0:0.5839	.	256	Q8TB69	ZN519_HUMAN	N	256	.	ENSP00000307908:K256N	K	-	3	2	ZNF519	14095771	0.000000	0.05858	0.004000	0.12327	0.346000	0.29079	0.127000	0.15790	-0.192000	0.10432	0.089000	0.15464	AAG		0.328	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1		NM_145287		15	10	0	0	0	0.020292	0	15	10		
ELP2	55250	broad.mit.edu	37	18	33722264	33722264	+	Silent	SNP	C	C	G	rs142567516		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr18:33722264C>G	ENST00000358232.6	+	7	672	c.609C>G	c.(607-609)ctC>ctG	p.L203L	ELP2_ENST00000351393.6_Silent_p.L177L|ELP2_ENST00000442325.2_Silent_p.L268L|ELP2_ENST00000423854.2_Intron|ELP2_ENST00000350494.6_Silent_p.L242L|ELP2_ENST00000542824.1_Silent_p.L177L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	203					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)		p.L203L(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TGCTTTCTCTCTGTGGACATG	0.373																																						uc002kzk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(2)|ovary(1)|skin(1)	4						c.(607-609)CTC>CTG		elongator protein 2							189.0	180.0	183.0					18																	33722264		2203	4300	6503	SO:0001819	synonymous_variant	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33722264C>G	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.609C>G	18.37:g.33722264C>G						ELP2_uc010xcg.1_Silent_p.L268L|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.L177L|ELP2_uc010xch.1_Silent_p.L242L|ELP2_uc002kzn.1_Silent_p.L177L|ELP2_uc002kzo.1_Intron	p.L203L	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN			7	619	+			203					A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Silent	SNP	ENST00000358232.6	37	c.609C>G	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	C	6.504	0.461213	0.12342	.	.	ENSG00000134759	ENST00000535093	.	.	.	5.7	0.77	0.18497	.	.	.	.	.	T	0.41903	0.1179	.	.	.	0.51482	D	0.999921	.	.	.	.	.	.	T	0.21895	-1.0232	4	.	.	.	-11.0095	1.3989	0.02267	0.146:0.3503:0.2841:0.2196	.	.	.	.	C	24	.	.	S	+	2	0	ELP2	31976262	0.000000	0.05858	0.294000	0.24946	0.873000	0.50193	-0.602000	0.05680	0.054000	0.16065	0.557000	0.71058	TCT		0.373	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2		NM_018255		16	85	0	0	0	0.0333	0	16	85		
EPG5	57724	broad.mit.edu	37	18	43450556	43450556	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr18:43450556C>G	ENST00000282041.5	-	36	6235	c.6201G>C	c.(6199-6201)caG>caC	p.Q2067H	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2067					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.Q2067H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCATGAGCATCTGGTCAGGGT	0.517																																						uc002lbm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(6199-6201)CAG>CAC		hypothetical protein LOC57724							99.0	99.0	99.0					18																	43450556		1982	4169	6151	SO:0001583	missense	57724				autophagy			g.chr18:43450556C>G	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.6201G>C	18.37:g.43450556C>G	ENSP00000282041:p.Gln2067His					KIAA1632_uc010xcq.1_Missense_Mutation_p.Q621H|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_Intron|KIAA1632_uc002lbn.2_Missense_Mutation_p.Q942H	p.Q2067H	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			36	6301	-			2067					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.6201G>C	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237990	0.22711	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.10192	2.9	6.17	1.61	0.23674	.	.	.	.	.	T	0.11537	0.0281	L	0.56769	1.78	0.33686	D	0.612738	B	0.10296	0.003	B	0.11329	0.006	T	0.05289	-1.0894	9	0.48119	T	0.1	-2.8234	8.0029	0.30308	0.1102:0.6091:0.2147:0.066	.	2067	Q9HCE0	EPG5_HUMAN	H	2067;942	ENSP00000282041:Q2067H	ENSP00000282041:Q2067H	Q	-	3	2	EPG5	41704554	0.445000	0.25657	0.973000	0.42090	0.996000	0.88848	0.678000	0.25277	0.398000	0.25338	0.655000	0.94253	CAG		0.517	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1		NM_020964		9	30	0	0	0	0.058154	0	9	30		
TXNL1	9352	broad.mit.edu	37	18	54291545	54291545	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr18:54291545C>G	ENST00000217515.6	-	3	547	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	TXNL1_ENST00000540155.1_5'UTR|TXNL1_ENST00000590954.1_Missense_Mutation_p.E115Q	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	115	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)	p.E115Q(1)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TCTGTGTCCTCATTGCTTCCA	0.333																																						uc002lgg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(343-345)GAG>CAG		thioredoxin-like 1							174.0	172.0	173.0					18																	54291545		2203	4300	6503	SO:0001583	missense	9352				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity	g.chr18:54291545C>G	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.343G>C	18.37:g.54291545C>G	ENSP00000217515:p.Glu115Gln					TXNL1_uc010xdz.1_RNA|TXNL1_uc002lgh.2_RNA|TXNL1_uc002lgi.2_Missense_Mutation_p.E115Q|TXNL1_uc002lgj.1_Missense_Mutation_p.E115Q	p.E115Q	NM_004786	NP_004777	O43396	TXNL1_HUMAN		READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)	3	592	-			115			PITH.			Missense_Mutation	SNP	ENST00000217515.6	37	c.343G>C	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675649	0.67928	.	.	ENSG00000091164	ENST00000217515	T	0.18338	2.22	6.06	6.06	0.98353	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.35740	0.0942	M	0.69823	2.125	0.80722	D	1	D;P	0.54601	0.967;0.918	P;B	0.55455	0.776;0.428	T	0.02081	-1.1217	10	0.15066	T	0.55	.	20.2348	0.98355	0.0:1.0:0.0:0.0	.	115;115	B2R960;O43396	.;TXNL1_HUMAN	Q	115	ENSP00000217515:E115Q	ENSP00000217515:E115Q	E	-	1	0	TXNL1	52442543	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	7.466000	0.80914	2.880000	0.98712	0.650000	0.86243	GAG		0.333	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2				34	143	0	0	0	0.054565	0	34	143		
ZNF555	148254	broad.mit.edu	37	19	2853300	2853300	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:2853300G>A	ENST00000334241.4	+	4	1375	c.1237G>A	c.(1237-1239)Gga>Aga	p.G413R	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.G412R	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G413R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CTCCTTTCGAGGACACATGAG	0.473																																						uc002lwo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1237-1239)GGA>AGA		zinc finger protein 555							68.0	56.0	60.0					19																	2853300		2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2853300G>A	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1237G>A	19.37:g.2853300G>A	ENSP00000334853:p.Gly413Arg					ZNF555_uc002lwn.3_Missense_Mutation_p.G412R	p.G413R	NM_152791	NP_690004	Q8NEP9	ZN555_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)	4	1326	+			413			C2H2-type 9.		A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.1237G>A	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	6.515	0.463303	0.12402	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.11169	2.8	3.22	-1.28	0.09318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01976	0.0062	N	0.00327	-1.64	0.09310	N	1	B;B	0.16166	0.016;0.003	B;B	0.15052	0.012;0.002	T	0.47235	-0.9133	9	0.12766	T	0.61	.	4.145	0.10212	0.2676:0.0:0.5539:0.1784	.	413;412	Q8NEP9;A8KA89	ZN555_HUMAN;.	R	413;412	ENSP00000334853:G413R	ENSP00000334853:G413R	G	+	1	0	ZNF555	2804300	0.000000	0.05858	0.002000	0.10522	0.579000	0.36224	-0.924000	0.03996	0.084000	0.17077	0.561000	0.74099	GGA		0.473	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3		NM_152791		4	62	0	0	0	0.009096	0	4	62		
MUC16	94025	broad.mit.edu	37	19	9067796	9067796	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:9067796C>T	ENST00000397910.4	-	3	19853	c.19650G>A	c.(19648-19650)gtG>gtA	p.V6550V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6552	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V6550V(2)|p.V2183V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGTCTTCACTAGGCCAG	0.483																																						uc002mkp.2		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(19648-19650)GTG>GTA		mucin 16							85.0	76.0	79.0					19																	9067796		1915	4121	6036	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067796C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19650G>A	19.37:g.9067796C>T							p.V6550V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	19854	-			6552			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.19650G>A	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		20	15	0	0	0	0.049695	0	20	15		
ICAM1	3383	broad.mit.edu	37	19	10394842	10394842	+	Missense_Mutation	SNP	G	G	C	rs139628843		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:10394842G>C	ENST00000264832.3	+	4	1096	c.771G>C	c.(769-771)caG>caC	p.Q257H	ICAM1_ENST00000423829.2_Missense_Mutation_p.Q35H|ICAM4_ENST00000393717.2_5'Flank|ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	257	Ig-like C2-type 3.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.Q257H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	TGGGGGACCAGAGGTTGAACC	0.657																																						uc002mnq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(769-771)CAG>CAC		intercellular adhesion molecule 1 precursor	Natalizumab(DB00108)|Simvastatin(DB00641)	G	HIS/GLN	1,4405	2.1+/-5.4	0,1,2202	74.0	58.0	64.0		771	0.6	0.0	19	dbSNP_134	64	0,8600		0,0,4300	no	missense	ICAM1	NM_000201.2	24	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	benign	257/533	10394842	1,13005	2203	4300	6503	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10394842G>C		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.771G>C	19.37:g.10394842G>C	ENSP00000264832:p.Gln257His					ICAM1_uc010xle.1_Missense_Mutation_p.Q35H|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	p.Q257H	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		4	1090	+			257			Ig-like C2-type 3.|Extracellular (Potential).		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.771G>C	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	G	9.511	1.105788	0.20632	2.27E-4	0.0	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.03860	3.78;3.78	4.32	0.653	0.17828	Immunoglobulin-like fold (1);	1.322980	0.05563	N	0.569641	T	0.05640	0.0148	L	0.28054	0.825	0.09310	N	1	B;B	0.15719	0.003;0.014	B;B	0.24155	0.001;0.051	T	0.47522	-0.9111	10	0.41790	T	0.15	-3.7383	11.8835	0.52589	0.0:0.5303:0.4697:0.0	.	35;257	E7ESS4;P05362	.;ICAM1_HUMAN	H	257;35	ENSP00000264832:Q257H;ENSP00000413124:Q35H	ENSP00000264832:Q257H	Q	+	3	2	ICAM1	10255842	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-0.017000	0.12590	0.135000	0.18707	0.407000	0.27541	CAG		0.657	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1				6	75	0	0	0	0.02938	0	6	75		
SMARCA4	6597	broad.mit.edu	37	19	11123726	11123726	+	Silent	SNP	C	C	T	rs568699320		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:11123726C>T	ENST00000429416.3	+	17	2657	c.2376C>T	c.(2374-2376)ctC>ctT	p.L792L	SMARCA4_ENST00000413806.3_Silent_p.L792L|SMARCA4_ENST00000450717.3_Silent_p.L792L|SMARCA4_ENST00000541122.2_Silent_p.L792L|SMARCA4_ENST00000344626.4_Silent_p.L792L|SMARCA4_ENST00000358026.2_Silent_p.L792L|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000590574.1_Silent_p.L792L|RN7SL192P_ENST00000584303.1_RNA|SMARCA4_ENST00000589677.1_Silent_p.L792L|SMARCA4_ENST00000444061.3_Silent_p.L792L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	792	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L792L(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCATCGCGCTCATCACGTACC	0.582			"""F, N, Mis"""		NSCLC								C|||	1	0.000199681	0.0	0.0014	5008	,	,		21199	0.0		0.0	False		,,,				2504	0.0					uc002mqf.3		NaN		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		3	Substitution - coding silent(2)|Unknown(1)	p.?(1)	urinary_tract(2)|lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(2374-2376)CTC>CTT		SWI/SNF-related matrix-associated							183.0	106.0	132.0					19																	11123726		2203	4300	6503	SO:0001819	synonymous_variant	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11123726C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2376C>T	19.37:g.11123726C>T						SMARCA4_uc010dxp.2_Silent_p.L792L|SMARCA4_uc010dxo.2_Silent_p.L792L|SMARCA4_uc002mqg.1_Silent_p.L792L|SMARCA4_uc010dxq.2_Silent_p.L792L|SMARCA4_uc010dxr.2_Silent_p.L792L|SMARCA4_uc002mqj.3_Silent_p.L792L|SMARCA4_uc010dxs.2_Silent_p.L792L|SMARCA4_uc010dxt.1_Silent_p.L12L	p.L792L	NM_003072	NP_003063	P51532	SMCA4_HUMAN			16	2660	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	792			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.2376C>T	CCDS12253.1																																																																																				0.582	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072		31	31	0	0	0	0.045705	0	31	31		
CYP4F12	66002	broad.mit.edu	37	19	15794481	15794481	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:15794481C>T	ENST00000550308.1	+	7	1206	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R276C	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	276					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.R276C(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GGAGCGGCGTCGCACCCTCCC	0.532																																						uc002nbl.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|NS(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(826-828)CGC>TGC		cytochrome P450, family 4, subfamily F,							100.0	100.0	100.0					19																	15794481		2198	4298	6496	SO:0001583	missense	66002							g.chr19:15794481C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.826C>T	19.37:g.15794481C>T	ENSP00000448998:p.Arg276Cys						p.R276C	NM_023944	NP_076433					7	887	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.826C>T	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	5.865	0.343799	0.11126	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.69926	-0.44;-0.44	2.47	1.42	0.22433	.	0.807917	0.10647	U	0.650283	T	0.55289	0.1911	L	0.46157	1.445	0.18873	N	0.999988	B	0.22146	0.065	B	0.24848	0.056	T	0.52487	-0.8569	10	0.66056	D	0.02	.	3.1096	0.06353	0.2625:0.5864:0.0:0.1511	.	276	Q9HCS2	CP4FC_HUMAN	C	276	ENSP00000448998:R276C;ENSP00000321821:R276C	ENSP00000321821:R276C	R	+	1	0	CYP4F12	15655481	0.000000	0.05858	0.537000	0.28052	0.396000	0.30629	0.178000	0.16820	0.596000	0.29794	0.491000	0.48974	CGC		0.532	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9				54	118	0	0	0	0.048971	0	54	118		
CYP4F2	8529	broad.mit.edu	37	19	16001184	16001184	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:16001184G>A	ENST00000221700.6	-	6	680	c.585C>T	c.(583-585)atC>atT	p.I195I	CYP4F2_ENST00000011989.7_Silent_p.I46I	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.I195I(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCATGAGGCTGATGTGCTCAA	0.542																																						uc002nbs.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(583-585)ATC>ATT		cytochrome P450, family 4, subfamily F,							128.0	116.0	120.0					19																	16001184		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16001184G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.585C>T	19.37:g.16001184G>A						CYP4F2_uc010xot.1_Silent_p.I46I|CYP4F2_uc010xou.1_Silent_p.I46I	p.I195I	NM_001082	NP_001073	P78329	CP4F2_HUMAN			6	635	-			195						Silent	SNP	ENST00000221700.6	37	c.585C>T	CCDS12336.1																																																																																				0.542	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3		NM_001082		68	69	0	0	0	0.048971	0	68	69		
GMIP	51291	broad.mit.edu	37	19	19741332	19741332	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:19741332C>G	ENST00000203556.4	-	20	2624	c.2487G>C	c.(2485-2487)caG>caC	p.Q829H	LPAR2_ENST00000589311.1_5'Flank|GMIP_ENST00000445806.2_Missense_Mutation_p.Q800H|LPAR2_ENST00000407877.3_5'Flank|GMIP_ENST00000587238.1_Missense_Mutation_p.Q803H|LPAR2_ENST00000586703.1_5'Flank|LPAR2_ENST00000542587.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	829					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)	p.Q829H(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCTGGTCACTCTGTGGAGTTG	0.542																																						uc002nnd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2485-2487)CAG>CAC		GEM interacting protein							160.0	142.0	148.0					19																	19741332		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19741332C>G	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2487G>C	19.37:g.19741332C>G	ENSP00000203556:p.Gln829His					LPAR2_uc002nnb.3_5'Flank|LPAR2_uc002nna.3_5'Flank|LPAR2_uc002nnc.3_5'Flank|GMIP_uc010xrb.1_Missense_Mutation_p.Q803H|GMIP_uc010xrc.1_Missense_Mutation_p.Q800H	p.Q829H	NM_016573	NP_057657	Q9P107	GMIP_HUMAN			20	2604	-			829					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.2487G>C	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	9.432	1.085821	0.20390	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.22134	1.97;1.97	3.91	1.71	0.24356	.	0.168569	0.28476	N	0.015211	T	0.13114	0.0318	L	0.32530	0.975	0.09310	N	1	P;B;P	0.41748	0.761;0.001;0.553	B;B;B	0.38500	0.275;0.001;0.204	T	0.11518	-1.0584	10	0.45353	T	0.12	-10.3619	5.517	0.16912	0.0:0.6876:0.2021:0.1103	.	800;803;829	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	H	829;800	ENSP00000203556:Q829H;ENSP00000397075:Q800H	ENSP00000203556:Q829H	Q	-	3	2	GMIP	19602332	0.380000	0.25131	0.197000	0.23402	0.920000	0.55202	1.271000	0.33098	0.592000	0.29728	-0.291000	0.09656	CAG		0.542	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1		NM_016573		71	46	0	0	0	0.048971	0	71	46		
WDR62	284403	broad.mit.edu	37	19	36562497	36562497	+	Missense_Mutation	SNP	A	A	G	rs146229976	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:36562497A>G	ENST00000270301.7	+	8	922	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000401500.2_Missense_Mutation_p.I308V|WDR62_ENST00000388999.3_Missense_Mutation_p.I308V			O43379	WDR62_HUMAN	WD repeat domain 62	308					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.I308V(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCAGGAGCTCATCTTCTGTGG	0.592													A|||	2	0.000399361	0.0015	0.0	5008	,	,		21340	0.0		0.0	False		,,,				2504	0.0					uc002odc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(922-924)ATC>GTC		WD repeat domain 62 isoform 2		A	VAL/ILE,VAL/ILE	12,4394	19.1+/-41.9	0,12,2191	96.0	87.0	90.0		922,922	6.0	1.0	19	dbSNP_134	90	0,8600		0,0,4300	yes	missense,missense	WDR62	NM_001083961.1,NM_173636.4	29,29	0,12,6491	GG,GA,AA		0.0,0.2724,0.0923	benign,benign	308/1524,308/1519	36562497	12,12994	2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36562497A>G	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.922A>G	19.37:g.36562497A>G	ENSP00000270301:p.Ile308Val					WDR62_uc002odd.2_Missense_Mutation_p.I308V|WDR62_uc002odb.2_Missense_Mutation_p.I308V	p.I308V	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		8	1013	+	Esophageal squamous(110;0.162)		308			WD 4.		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.922A>G	CCDS33001.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	18.10	3.548460	0.65311	0.002724	0.0	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	T;T;T;T	0.64085	-0.08;2.72;4.95;-0.05	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.152904	0.64402	D	0.000017	T	0.67887	0.2941	L	0.29908	0.895	0.43657	D	0.996079	D;P;B	0.65815	0.995;0.512;0.285	D;B;B	0.69654	0.965;0.289;0.203	T	0.66496	-0.5909	10	0.34782	T	0.22	-37.7775	14.4005	0.67041	1.0:0.0:0.0:0.0	.	308;308;308	O43379-4;O43379;O43379-3	.;WDR62_HUMAN;.	V	308;308;308;308;330	ENSP00000384792:I308V;ENSP00000373651:I308V;ENSP00000368137:I308V;ENSP00000270301:I308V	ENSP00000270301:I308V	I	+	1	0	WDR62	41254337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.278000	0.51662	2.285000	0.76669	0.533000	0.62120	ATC		0.592	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1		NM_015671		7	168	0	0	0	0.02938	0	7	168		
WDR62	284403	broad.mit.edu	37	19	36574043	36574043	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:36574043G>A	ENST00000270301.7	+	11	1450	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	WDR62_ENST00000401500.2_Missense_Mutation_p.E484K			O43379	WDR62_HUMAN	WD repeat domain 62	484					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.E484K(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGGGGGAGCGAGAATGGGAC	0.597																																						uc002odc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1450-1452)GAG>AAG		WD repeat domain 62 isoform 2							56.0	48.0	51.0					19																	36574043		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36574043G>A	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1450G>A	19.37:g.36574043G>A	ENSP00000270301:p.Glu484Lys					WDR62_uc002odd.2_Missense_Mutation_p.E484K	p.E484K	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		11	1541	+	Esophageal squamous(110;0.162)		484					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.1450G>A	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782567	0.31502	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.63255	1.03;-0.03	5.71	4.68	0.58851	WD40/YVTN repeat-like-containing domain (1);	0.167896	0.49916	N	0.000122	T	0.63873	0.2548	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.991	T	0.58973	-0.7541	10	0.07325	T	0.83	-21.1787	12.5297	0.56106	0.0804:0.0:0.9196:0.0	.	484;484	O43379-4;O43379	.;WDR62_HUMAN	K	484	ENSP00000384792:E484K;ENSP00000270301:E484K	ENSP00000270301:E484K	E	+	1	0	WDR62	41265883	0.958000	0.32768	0.398000	0.26321	0.135000	0.20990	2.167000	0.42415	1.433000	0.47394	-0.140000	0.14226	GAG		0.597	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1		NM_015671		3	36	0	0	0	0.004672	0	3	36		
ACTN4	81	broad.mit.edu	37	19	39220017	39220017	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:39220017G>A	ENST00000252699.2	+	21	2757	c.2681G>A	c.(2680-2682)gGt>gAt	p.G894D	ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000424234.2_Missense_Mutation_p.G504D|ACTN4_ENST00000390009.3_Missense_Mutation_p.G675D	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	894	Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.G894D(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCGTGCCCGGTGCCCTCGAC	0.672																																					Colon(168;199 1940 10254 46213 46384)	uc002oja.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2680-2682)GGT>GAT		actinin, alpha 4							36.0	38.0	37.0					19																	39220017		2202	4299	6501	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39220017G>A	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2681G>A	19.37:g.39220017G>A	ENSP00000252699:p.Gly894Asp					ACTN4_uc002ojb.1_Missense_Mutation_p.G216D	p.G894D	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		21	2740	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		894					A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.2681G>A	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264326	0.39995	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.74209	0.95;-0.82;-0.82;-0.82	3.48	3.48	0.39840	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.74696	0.3750	L	0.41236	1.265	0.80722	D	1	B	0.31640	0.333	P	0.45577	0.486	T	0.76471	-0.2947	10	0.49607	T	0.09	.	14.2674	0.66129	0.0:0.0:1.0:0.0	.	894	O43707	ACTN4_HUMAN	D	894;504;675;325	ENSP00000252699:G894D;ENSP00000411187:G504D;ENSP00000439497:G675D;ENSP00000398393:G325D	ENSP00000252699:G894D	G	+	2	0	ACTN4	43911857	1.000000	0.71417	0.690000	0.30148	0.246000	0.25737	7.698000	0.84413	1.959000	0.56917	0.455000	0.32223	GGT		0.672	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1				10	39	0	0	0	0.069234	0	10	39		
SARS2	54938	broad.mit.edu	37	19	39421110	39421110	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:39421110G>A	ENST00000221431.6	-	1	426	c.267C>T	c.(265-267)atC>atT	p.I89I	SARS2_ENST00000600042.1_Splice_Site_p.I89I|SARS2_ENST00000430193.3_Splice_Site_p.I89I|MRPS12_ENST00000402029.3_5'Flank|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_5'Flank|SARS2_ENST00000594171.1_5'Flank|MRPS12_ENST00000407800.2_5'Flank|SARS2_ENST00000448145.2_Intron	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	89					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)	p.I89I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCGCACTCACGATCGCGGGCA	0.662											OREG0025455|OREG0032101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																										uc002oka.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(265-267)ATC>ATT		seryl-tRNA synthetase 2 isoform b precursor							22.0	27.0	25.0					19																	39421110		2181	4262	6443	SO:0001630	splice_region_variant	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39421110G>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.267+1C>T	19.37:g.39421110G>A			OREG0032101|OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	885	SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_Silent_p.I89I|SARS2_uc002okb.2_Silent_p.I89I|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_RNA|SARS2_uc010xus.1_Silent_p.I89I|MRPS12_uc002okc.2_5'Flank|MRPS12_uc002okd.2_5'Flank|MRPS12_uc002oke.2_5'Flank	p.I89I	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		1	427	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		89					A6NHW7|B4DE10|Q9BVP3	Silent	SNP	ENST00000221431.6	37	c.267C>T	CCDS33017.1																																																																																				0.662	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1		NM_017827	Silent	39	175	0	0	0	0.039052	0	39	175		
RTN2	6253	broad.mit.edu	37	19	45997499	45997499	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:45997499C>G	ENST00000245923.4	-	4	974	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Missense_Mutation_p.E247Q|RTN2_ENST00000589384.1_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	247					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)		p.E247Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGCTCTCGCTCCAGTGGCCCC	0.577																																						uc002pcb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(739-741)GAG>CAG		reticulon 2 isoform A							118.0	99.0	106.0					19																	45997499		2203	4300	6503	SO:0001583	missense	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45997499C>G	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.739G>C	19.37:g.45997499C>G	ENSP00000245923:p.Glu247Gln					RTN2_uc002pcc.2_Missense_Mutation_p.E247Q|RTN2_uc002pcd.2_RNA	p.E247Q	NM_005619	NP_005610	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	4	967	-		Ovarian(192;0.051)|all_neural(266;0.112)	247					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	c.739G>C	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685602	0.47991	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.56444	0.76;0.46	5.78	4.71	0.59529	.	0.238625	0.29438	N	0.012149	T	0.56514	0.1990	L	0.32530	0.975	0.80722	D	1	D;B	0.71674	0.998;0.2	D;B	0.65684	0.937;0.055	T	0.43081	-0.9413	10	0.17369	T	0.5	-12.4042	13.012	0.58737	0.0:0.8395:0.1605:0.0	.	247;247	O75298-2;O75298	.;RTN2_HUMAN	Q	247	ENSP00000345127:E247Q;ENSP00000245923:E247Q	ENSP00000245923:E247Q	E	-	1	0	RTN2	50689339	0.244000	0.23889	0.948000	0.38648	0.089000	0.18198	1.445000	0.35079	2.744000	0.94065	0.563000	0.77884	GAG		0.577	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1		NM_005619		154	78	0	0	0	0.048971	0	154	78		
CGB7	94027	broad.mit.edu	37	19	49558233	49558233	+	Silent	SNP	G	G	A	rs370423985	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:49558233G>A	ENST00000597853.1	-	4	2919	c.48C>T	c.(46-48)ggC>ggT	p.G16G	CGB7_ENST00000596965.1_Silent_p.G16G|CGB7_ENST00000356213.4_Silent_p.G14G|CGB7_ENST00000377280.3_Silent_p.G16G|CGB7_ENST00000593309.1_5'Flank			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	16					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.G16G(1)		lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CCCATGTCCCGCCCATGCTCA	0.667													G|||	6	0.00119808	0.0045	0.0	5008	,	,		13824	0.0		0.0	False		,,,				2504	0.0					uc002pmd.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(46-48)GGC>GGT		chorionic gonadotropin, beta polypeptide 7	Choriogonadotropin alfa(DB00097)	G		1,3013		0,1,1506	88.0	66.0	74.0		48	-4.0	0.0	19		74	0,5382		0,0,2691	no	coding-synonymous	CGB7	NM_033142.1		0,1,4197	AA,AG,GG		0.0,0.0332,0.0119		16/166	49558233	1,8395	1507	2691	4198	SO:0001819	synonymous_variant	94027				apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49558233G>A	K00092	CCDS33071.1	19q13.32	2008-02-05				ENSG00000196337			16451	protein-coding gene	gene with protein product		608826				6194155	Standard	NM_033142		Approved	CG-beta-a		P01233		ENST00000597853.1:c.48C>T	19.37:g.49558233G>A						CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Silent_p.G16G	p.G16G	NM_033142	NP_149133	P01233	CGHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	413	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	16					A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Silent	SNP	ENST00000597853.1	37	c.48C>T	CCDS33071.1																																																																																				0.667	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466254.1		NM_033142		61	25	0	0	0	0.048971	0	61	25		
POLD1	5424	broad.mit.edu	37	19	50921177	50921177	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:50921177C>G	ENST00000440232.2	+	27	3350	c.3297C>G	c.(3295-3297)ttC>ttG	p.F1099L	SPIB_ENST00000439922.2_5'Flank|SPIB_ENST00000597855.1_5'Flank|SPIB_ENST00000270632.7_5'Flank|CTD-2545M3.6_ENST00000599632.1_Intron|POLD1_ENST00000599857.1_Missense_Mutation_p.F1099L|SPIB_ENST00000596074.1_5'Flank|POLD1_ENST00000595904.1_Missense_Mutation_p.F1125L|SPIB_ENST00000595883.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	1099					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.F1099L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGCGGCGCTTCGGACCCCCTG	0.622								DNA polymerases (catalytic subunits)																														uc002psb.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(3295-3297)TTC>TTG	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase delta 1							30.0	32.0	31.0					19																	50921177		2197	4300	6497	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50921177C>G		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.3297C>G	19.37:g.50921177C>G	ENSP00000406046:p.Phe1099Leu					POLD1_uc002psc.3_Missense_Mutation_p.F1099L|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.F1125L|SPIB_uc002psd.2_5'Flank|SPIB_uc002pse.2_5'Flank|SPIB_uc010ycc.1_5'Flank	p.F1099L	NM_002691	NP_002682	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	27	3353	+		all_neural(266;0.0571)	1099					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.3297C>G	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	c	15.50	2.851688	0.51270	.	.	ENSG00000062822	ENST00000440232	T	0.05139	3.49	3.87	-7.73	0.01245	.	0.000000	0.85682	U	0.000000	T	0.10551	0.0258	L	0.48174	1.505	0.53005	D	0.999969	D;P	0.59767	0.986;0.935	P;P	0.58928	0.848;0.543	T	0.04915	-1.0918	10	0.87932	D	0	-15.6195	12.2581	0.54634	0.0:0.2568:0.0:0.7432	.	1125;1099	E7EVW0;P28340	.;DPOD1_HUMAN	L	1099	ENSP00000406046:F1099L	ENSP00000406046:F1099L	F	+	3	2	POLD1	55612989	0.002000	0.14202	0.325000	0.25375	0.304000	0.27724	-1.773000	0.01786	-1.802000	0.01244	-1.421000	0.01109	TTC		0.622	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1				8	11	0	0	0	0.058154	0	8	11		
SIGLEC8	27181	broad.mit.edu	37	19	51957508	51957508	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:51957508C>G	ENST00000321424.3	-	6	1276	c.1210G>C	c.(1210-1212)Gaa>Caa	p.E404Q	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.E311Q|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.E295Q|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	404					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.E404Q(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTTGCATCTTCCATGCCTGTA	0.597																																						uc002pwt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(1210-1212)GAA>CAA		sialic acid binding Ig-like lectin 8 precursor							120.0	107.0	112.0					19																	51957508		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51957508C>G	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1210G>C	19.37:g.51957508C>G	ENSP00000321077:p.Glu404Gln					SIGLEC8_uc010yda.1_Missense_Mutation_p.E295Q|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.E311Q	p.E404Q	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	6	1277	-		all_neural(266;0.0199)	404			Cytoplasmic (Potential).		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.1210G>C	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	7.513	0.655165	0.14580	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.61392	1.47;0.11;1.2	1.11	-1.31	0.09230	.	.	.	.	.	T	0.50086	0.1595	M	0.64997	1.995	0.09310	N	1	P;P;P	0.45902	0.543;0.839;0.868	B;B;B	0.44133	0.058;0.442;0.156	T	0.40515	-0.9559	9	0.36615	T	0.2	.	3.8705	0.09035	0.0:0.4783:0.0:0.5217	.	295;311;404	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	Q	295;404;311	ENSP00000389142:E295Q;ENSP00000321077:E404Q;ENSP00000339448:E311Q	ENSP00000321077:E404Q	E	-	1	0	SIGLEC8	56649320	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.655000	0.24933	-0.392000	0.07751	-0.368000	0.07277	GAA		0.597	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2		NM_014442		21	143	0	0	0	0.076483	0	21	143		
ZNF28	7576	broad.mit.edu	37	19	53303274	53303274	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:53303274C>T	ENST00000457749.2	-	4	1943	c.1824G>A	c.(1822-1824)aaG>aaA	p.K608K	ZNF28_ENST00000438150.2_Silent_p.K555K|ZNF28_ENST00000360272.4_Silent_p.K555K|ZNF28_ENST00000414252.2_Silent_p.K555K	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K555K(2)|p.K608K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACTCATTACACTTGTAAGGTT	0.448																																						uc002qad.2		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	skin(1)	1						c.(1822-1824)AAG>AAA		zinc finger protein 28							207.0	190.0	196.0					19																	53303274		2203	4300	6503	SO:0001819	synonymous_variant	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303274C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1824G>A	19.37:g.53303274C>T						ZNF28_uc002qac.2_Silent_p.K555K|ZNF28_uc010eqe.2_Silent_p.K554K	p.K608K	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	1944	-			608			C2H2-type 15.		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	ENST00000457749.2	37	c.1824G>A	CCDS33093.2																																																																																				0.448	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2		NM_006969		196	98	0	0	0	0.048971	0	196	98		
GREB1	9687	broad.mit.edu	37	2	11773124	11773124	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:11773124G>A	ENST00000381486.2	+	28	5226	c.4926G>A	c.(4924-4926)gtG>gtA	p.V1642V	GREB1_ENST00000234142.5_Silent_p.V1642V|GREB1_ENST00000396123.1_Silent_p.V640V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1642						integral component of membrane (GO:0016021)		p.V1642V(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTTTCATTGTGATCTCTGATG	0.562																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(4924-4926)GTG>GTA		growth regulation by estrogen in breast cancer 1							131.0	141.0	137.0					2																	11773124		2141	4247	6388	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11773124G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4926G>A	2.37:g.11773124G>A						GREB1_uc002rbp.1_Silent_p.V640V	p.V1642V	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	28	5226	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1642					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.4926G>A	CCDS42655.1																																																																																				0.562	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		NM_014668		47	74	0	0	0	0.048971	0	47	74		
RAD51AP2	729475	broad.mit.edu	37	2	17698327	17698327	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:17698327G>C	ENST00000399080.2	-	1	1379	c.1356C>G	c.(1354-1356)atC>atG	p.I452M		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	452								p.I452M(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CATATGCATTGATGACTTTTG	0.313																																						uc002rcl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1354-1356)ATC>ATG		RAD51 associated protein 2							61.0	55.0	57.0					2																	17698327		1825	4077	5902	SO:0001583	missense	729475							g.chr2:17698327G>C	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1356C>G	2.37:g.17698327G>C	ENSP00000382030:p.Ile452Met					RAD51AP2_uc010exn.1_Missense_Mutation_p.I443M	p.I452M	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			1	1380	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		452						Missense_Mutation	SNP	ENST00000399080.2	37	c.1356C>G	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.350405	0.00219	.	.	ENSG00000214842	ENST00000399080	T	0.21031	2.03	4.74	0.871	0.19107	.	.	.	.	.	T	0.04497	0.0123	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38112	-0.9676	9	0.05525	T	0.97	0.0014	0.8737	0.01220	0.279:0.3619:0.1247:0.2344	.	452	Q09MP3	R51A2_HUMAN	M	452	ENSP00000382030:I452M	ENSP00000382030:I452M	I	-	3	3	RAD51AP2	17561808	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.295000	0.08298	0.028000	0.15324	-2.204000	0.00303	ATC		0.313	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3		NM_001099218		27	41	0	0	0	0.099896	0	27	41		
PUM2	23369	broad.mit.edu	37	2	20511319	20511319	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:20511319C>A	ENST00000361078.2	-	4	476	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	PUM2_ENST00000420234.1_Intron|PUM2_ENST00000536417.1_Missense_Mutation_p.D96Y|PUM2_ENST00000403432.1_Missense_Mutation_p.D152Y|PUM2_ENST00000319801.5_Missense_Mutation_p.D152Y|PUM2_ENST00000338086.5_Missense_Mutation_p.D152Y			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	152	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.D152Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAGAATCATCATCATCTCCT	0.378																																						uc002rds.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(454-456)GAT>TAT		pumilio homolog 2							147.0	137.0	141.0					2																	20511319		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20511319C>A	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.454G>T	2.37:g.20511319C>A	ENSP00000354370:p.Asp152Tyr					PUM2_uc002rdt.1_Missense_Mutation_p.D152Y|PUM2_uc002rdr.2_Missense_Mutation_p.D91Y|PUM2_uc010yjy.1_Missense_Mutation_p.D152Y|PUM2_uc002rdu.1_Missense_Mutation_p.D152Y|PUM2_uc010yjz.1_Missense_Mutation_p.D91Y	p.D152Y	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN			4	477	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		152			Interaction with SNAPIN.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.454G>T		.	.	.	.	.	.	.	.	.	.	C	18.73	3.685830	0.68157	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.19938	2.11;2.38;2.38;2.14;2.11;2.15	5.89	5.89	0.94794	.	0.354261	0.36555	N	0.002527	T	0.29423	0.0733	L	0.29908	0.895	0.46131	D	0.998881	P;B;P	0.49961	0.804;0.187;0.93	P;B;P	0.51355	0.466;0.145;0.667	T	0.00619	-1.1641	10	0.56958	D	0.05	-3.809	20.2287	0.98347	0.0:1.0:0.0:0.0	.	96;152;152	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	Y	152;152;152;43;152;96;152	ENSP00000338173:D152Y;ENSP00000354370:D152Y;ENSP00000326746:D152Y;ENSP00000409905:D43Y;ENSP00000385992:D152Y;ENSP00000440093:D96Y	ENSP00000326746:D152Y	D	-	1	0	PUM2	20374800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.800000	0.55537	2.787000	0.95880	0.655000	0.94253	GAT		0.378	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015317		33	65	1	0	6.00712e-18	0.050027	6.33225e-18	33	65		
CRIM1	51232	broad.mit.edu	37	2	36744610	36744610	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:36744610G>C	ENST00000280527.2	+	12	2498	c.2131G>C	c.(2131-2133)Gag>Cag	p.E711Q		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	711	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E711Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGTGCTGTGTGAGACAGAGGT	0.582																																						uc002rpd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(2131-2133)GAG>CAG		cysteine-rich motor neuron 1 precursor							94.0	85.0	88.0					2																	36744610		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36744610G>C	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2131G>C	2.37:g.36744610G>C	ENSP00000280527:p.Glu711Gln						p.E711Q	NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN			12	2170	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	711			VWFC 4.|Extracellular (Potential).		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.2131G>C	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968150	0.92855	.	.	ENSG00000150938	ENST00000280527;ENST00000413985	T;T	0.72282	-0.64;-0.64	5.56	5.56	0.83823	von Willebrand factor, type C (4);	0.049404	0.85682	D	0.000000	T	0.69744	0.3145	N	0.05534	-0.03	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.69855	-0.5032	10	0.23302	T	0.38	-24.6765	18.5257	0.90971	0.0:0.0:1.0:0.0	.	711	Q9NZV1	CRIM1_HUMAN	Q	711;73	ENSP00000280527:E711Q;ENSP00000403120:E73Q	ENSP00000280527:E711Q	E	+	1	0	CRIM1	36598114	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.552000	0.98115	2.620000	0.88729	0.655000	0.94253	GAG		0.582	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2		NM_016441		9	95	0	0	0	0.020292	0	9	95		
HAAO	23498	broad.mit.edu	37	2	42995022	42995022	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:42995022A>T	ENST00000294973.6	-	8	732	c.677T>A	c.(676-678)gTg>gAg	p.V226E		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase									p.V226E(1)		breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CCACACGTCCACATTCTGTCT	0.632																																						uc002rst.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(676-678)GTG>GAG		3-hydroxyanthranilate 3,4-dioxygenase							100.0	91.0	94.0					2																	42995022		2203	4300	6503	SO:0001583	missense	23498				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding	g.chr2:42995022A>T	Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.677T>A	2.37:g.42995022A>T	ENSP00000294973:p.Val226Glu						p.V226E	NM_012205	NP_036337	P46952	3HAO_HUMAN			8	752	-			226			Domain B (By similarity).			Missense_Mutation	SNP	ENST00000294973.6	37	c.677T>A	CCDS33187.1	.	.	.	.	.	.	.	.	.	.	a	10.63	1.404356	0.25378	.	.	ENSG00000162882	ENST00000294973	T	0.29142	1.58	4.86	4.86	0.63082	Cupin, RmlC-type (1);	0.359610	0.26251	N	0.025447	T	0.25901	0.0631	L	0.60455	1.87	0.42605	D	0.993295	P	0.48694	0.914	B	0.41988	0.372	T	0.18398	-1.0338	10	0.02654	T	1	.	10.8964	0.47025	1.0:0.0:0.0:0.0	.	226	P46952	3HAO_HUMAN	E	226	ENSP00000294973:V226E	ENSP00000294973:V226E	V	-	2	0	HAAO	42848526	0.999000	0.42202	1.000000	0.80357	0.857000	0.48899	3.479000	0.53165	1.844000	0.53588	0.381000	0.24937	GTG		0.632	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325948.2				50	58	0	0	0	0.048971	0	50	58		
PLEKHH2	130271	broad.mit.edu	37	2	43939476	43939476	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:43939476C>T	ENST00000282406.4	+	15	2524	c.2414C>T	c.(2413-2415)tCc>tTc	p.S805F		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	805					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.S805F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AACCCACTTTCCCTGCAGCCT	0.478																																						uc010yny.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|central_nervous_system(1)	3						c.(2413-2415)TCC>TTC		pleckstrin homology domain containing, family H							102.0	91.0	95.0					2																	43939476		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43939476C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2414C>T	2.37:g.43939476C>T	ENSP00000282406:p.Ser805Phe					PLEKHH2_uc002rte.3_3'UTR|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S804F	p.S805F	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			15	2497	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	805					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2414C>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383776	0.25031	.	.	ENSG00000152527	ENST00000282406	T	0.21361	2.01	4.93	-0.826	0.10805	.	0.328732	0.36555	N	0.002535	T	0.04272	0.0118	N	0.00677	-1.265	0.23984	N	0.996263	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39623	-0.9605	10	0.14656	T	0.56	0.0188	5.4983	0.16815	0.0:0.2304:0.1716:0.5981	.	805;242	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	F	805	ENSP00000282406:S805F	ENSP00000282406:S805F	S	+	2	0	PLEKHH2	43792980	0.998000	0.40836	0.892000	0.35008	0.857000	0.48899	1.672000	0.37523	-0.357000	0.08175	-0.691000	0.03719	TCC		0.478	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1		NM_172069		51	49	0	0	0	0.048971	0	51	49		
EPAS1	2034	broad.mit.edu	37	2	46608758	46608758	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:46608758G>A	ENST00000263734.3	+	13	2579	c.2069G>A	c.(2068-2070)cGa>cAa	p.R690Q		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	690					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.R690Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TTTGGGGCTCGAGGCCCAGAC	0.597																																						uc002ruv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(2068-2070)CGA>CAA		endothelial PAS domain protein 1							52.0	53.0	53.0					2																	46608758		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46608758G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2069G>A	2.37:g.46608758G>A	ENSP00000263734:p.Arg690Gln					EPAS1_uc002ruw.2_Missense_Mutation_p.R156Q	p.R690Q	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		13	2557	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	690					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.2069G>A	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	8.627	0.892682	0.17613	.	.	ENSG00000116016	ENST00000263734	T	0.47528	0.84	5.32	-0.641	0.11490	.	2.359880	0.01358	N	0.012128	T	0.25975	0.0633	N	0.08118	0	0.24712	N	0.993195	B	0.06786	0.001	B	0.06405	0.002	T	0.09487	-1.0672	10	0.27785	T	0.31	.	3.3261	0.07067	0.1816:0.1332:0.5496:0.1356	.	690	Q99814	EPAS1_HUMAN	Q	690	ENSP00000263734:R690Q	ENSP00000263734:R690Q	R	+	2	0	EPAS1	46462262	0.122000	0.22280	0.123000	0.21794	0.346000	0.29079	0.510000	0.22723	-0.114000	0.11936	0.655000	0.94253	CGA		0.597	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2		NM_001430		24	62	0	0	0	0.076483	0	24	62		
RPS27A	6233	broad.mit.edu	37	2	55461976	55461976	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:55461976C>G	ENST00000272317.6	+	5	523	c.199C>G	c.(199-201)Ctt>Gtt	p.L67V	CLHC1_ENST00000401408.1_5'Flank|RPS27A_ENST00000402285.3_Missense_Mutation_p.L67V|CLHC1_ENST00000406437.2_5'Flank|CLHC1_ENST00000494539.1_5'Flank|CLHC1_ENST00000406076.1_5'Flank|RPS27A_ENST00000404735.1_Missense_Mutation_p.L67V|CLHC1_ENST00000407122.1_5'Flank	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	67	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.L67V(1)		cervix(1)|ovary(1)|urinary_tract(1)	3						GGAGTCTACTCTTCATCTTGT	0.398																																						uc010yow.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(199-201)CTT>GTT		ubiquitin and ribosomal protein S27a precursor							128.0	113.0	118.0					2																	55461976		2203	4300	6503	SO:0001583	missense	6233				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome	g.chr2:55461976C>G	AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"""S ribosomal proteins"""	10417	protein-coding gene	gene with protein product	"""ubiquitin carboxyl extension protein 80"""	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.199C>G	2.37:g.55461976C>G	ENSP00000272317:p.Leu67Val					C2orf63_uc002ryh.2_5'Flank|C2orf63_uc002ryi.2_5'Flank|C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.2_Missense_Mutation_p.L67V|RPS27A_uc002ryl.2_RNA|RPS27A_uc002rym.2_RNA	p.L67V	NM_001135592	NP_001129064	P62979	RS27A_HUMAN			5	396	+			67			Ubiquitin-like.		P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000272317.6	37	c.199C>G	CCDS33202.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603165	0.66445	.	.	ENSG00000143947	ENST00000402285;ENST00000272317;ENST00000449323;ENST00000404735	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.3	5.3	0.74995	Ubiquitin supergroup (1);Ubiquitin (2);	0.118020	0.64402	D	0.000015	T	0.46054	0.1373	L	0.46947	1.48	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.34900	-0.9810	10	0.48119	T	0.1	.	18.9382	0.92594	0.0:1.0:0.0:0.0	.	67	P62979	RS27A_HUMAN	V	67	ENSP00000383981:L67V;ENSP00000272317:L67V;ENSP00000408482:L67V;ENSP00000385659:L67V	ENSP00000272317:L67V	L	+	1	0	RPS27A	55315480	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	7.773000	0.85462	2.483000	0.83821	0.585000	0.79938	CTT		0.398	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324423.15				17	81	0	0	0	0.043863	0	17	81		
C1D	10438	broad.mit.edu	37	2	68273488	68273488	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:68273488A>T	ENST00000355848.3	-	3	240	c.193T>A	c.(193-195)Tca>Aca	p.S65T	C1D_ENST00000407324.1_Missense_Mutation_p.S104T|C1D_ENST00000410067.3_Missense_Mutation_p.S65T|C1D_ENST00000409302.1_Missense_Mutation_p.S65T|C1D_ENST00000470189.2_5'Flank			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	65	Interaction with NR1D1. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				apoptotic process (GO:0006915)|maturation of 5.8S rRNA (GO:0000460)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)	p.S65T(1)		lung(2)|urinary_tract(1)	3						CAAAACATTGAATTTAATGTG	0.299																																						uc002sea.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(193-195)TCA>ACA		nuclear DNA-binding protein							64.0	65.0	64.0					2																	68273488		2203	4297	6500	SO:0001583	missense	10438				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding	g.chr2:68273488A>T		CCDS1883.1	2p13-p12	2010-06-10	2010-06-10		ENSG00000197223	ENSG00000197223			29911	protein-coding gene	gene with protein product	"""small unique nuclear receptor co-repressor"""	606997	"""C1D nuclear receptor co-repressor"""			9469821, 17599775, 17412707, 11801738, 9405624	Standard	NM_006333		Approved	SUNCOR, SUN-CoR, LRP1	uc002seb.3	Q13901	OTTHUMG00000129564	ENST00000355848.3:c.193T>A	2.37:g.68273488A>T	ENSP00000348107:p.Ser65Thr					C1D_uc002seb.2_Missense_Mutation_p.S65T|C1D_uc002sec.2_Missense_Mutation_p.S65T|C1D_uc010fdc.2_Missense_Mutation_p.S65T	p.S65T	NM_173177	NP_775269	Q13901	C1D_HUMAN			3	275	-			65			Required for transcriptional repression (By similarity).|Interaction with NR1D1 (By similarity).		A8K336|D6W5F8|Q05D64	Missense_Mutation	SNP	ENST00000355848.3	37	c.193T>A	CCDS1883.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515418	0.64634	.	.	ENSG00000197223	ENST00000355848;ENST00000407324;ENST00000410067;ENST00000409302	T;T;T;T	0.58358	0.38;0.34;0.38;0.38	5.16	5.16	0.70880	.	0.061229	0.64402	D	0.000002	T	0.65995	0.2745	M	0.64567	1.98	0.58432	D	0.999998	D	0.61080	0.989	P	0.59703	0.862	T	0.67329	-0.5698	10	0.46703	T	0.11	.	15.2838	0.73810	1.0:0.0:0.0:0.0	.	65	Q13901	C1D_HUMAN	T	65;104;65;65	ENSP00000348107:S65T;ENSP00000384304:S104T;ENSP00000386468:S65T;ENSP00000386779:S65T	ENSP00000348107:S65T	S	-	1	0	C1D	68126992	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.198000	0.89729	2.076000	0.62316	0.402000	0.26972	TCA		0.299	C1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251757.3		NM_006333		13	25	0	0	0	0.105934	0	13	25		
ARID5A	10865	broad.mit.edu	37	2	97216890	97216890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:97216890C>T	ENST00000357485.3	+	7	703	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	ARID5A_ENST00000454558.2_Nonsense_Mutation_p.Q141*	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	209					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q209*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTTCCCAGCCAGGAGCCCCC	0.597																																						uc002swe.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(625-627)CAG>TAG		AT rich interactive domain 5A							60.0	69.0	66.0					2																	97216890		2203	4300	6503	SO:0001587	stop_gained	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97216890C>T	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.625C>T	2.37:g.97216890C>T	ENSP00000350078:p.Gln209*					ARID5A_uc010yuq.1_Nonsense_Mutation_p.Q157*|ARID5A_uc002swf.2_Nonsense_Mutation_p.Q45*|ARID5A_uc002swg.2_Nonsense_Mutation_p.Q157*	p.Q209*	NM_212481	NP_997646	Q03989	ARI5A_HUMAN			7	725	+			209					Q6NX37	Nonsense_Mutation	SNP	ENST00000357485.3	37	c.625C>T	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519500	0.27211	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	.	.	.	5.01	4.11	0.48088	.	1.593000	0.03915	N	0.282600	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-16.7199	10.4104	0.44289	0.1948:0.8052:0.0:0.0	.	.	.	.	X	209;209;141	.	ENSP00000350078:Q209X	Q	+	1	0	ARID5A	96580617	0.366000	0.25014	0.930000	0.37139	0.062000	0.15995	1.899000	0.39818	1.297000	0.44761	0.655000	0.94253	CAG		0.597	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2		NM_212481		73	117	0	0	0	0.048971	0	73	117		
MARCO	8685	broad.mit.edu	37	2	119750864	119750864	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:119750864A>G	ENST00000327097.4	+	16	1552	c.1417A>G	c.(1417-1419)Aaa>Gaa	p.K473E	MARCO_ENST00000541757.1_Missense_Mutation_p.K395E	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	473	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.K473E(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGCCCTGTACAAAGTGGGAGC	0.557																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1417-1419)AAA>GAA		macrophage receptor with collagenous structure							109.0	109.0	109.0					2																	119750864		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119750864A>G	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1417A>G	2.37:g.119750864A>G	ENSP00000318916:p.Lys473Glu					MARCO_uc010yyf.1_Missense_Mutation_p.K395E	p.K473E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			16	1549	+			473			SRCR.|Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.1417A>G	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	A	8.735	0.917556	0.17982	.	.	ENSG00000019169	ENST00000327097;ENST00000541757	T;T	0.28454	1.61;1.61	5.91	-2.66	0.06077	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.286650	0.05227	N	0.509684	T	0.14442	0.0349	N	0.13003	0.285	0.09310	N	1	B	0.25105	0.118	B	0.27796	0.083	T	0.15867	-1.0422	9	.	.	.	.	0.4068	0.00434	0.4021:0.13:0.2172:0.2507	.	473	Q9UEW3	MARCO_HUMAN	E	473;395	ENSP00000318916:K473E;ENSP00000441769:K395E	.	K	+	1	0	MARCO	119467334	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.253000	0.18296	-0.719000	0.04942	-1.089000	0.02181	AAA		0.557	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2		NM_006770		53	78	0	0	0	0.048971	0	53	78		
GLI2	2736	broad.mit.edu	37	2	121732608	121732608	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:121732608G>C	ENST00000452319.1	+	9	1351	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	GLI2_ENST00000314490.11_Missense_Mutation_p.E103Q|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.E431Q					GLI family zinc finger 2									p.E431Q(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCAGGAGGCTGAGGTGGTCAT	0.577																																						uc010flp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(1291-1293)GAG>CAG		GLI-Kruppel family member GLI2							91.0	81.0	84.0					2																	121732608		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121732608G>C		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1291G>C	2.37:g.121732608G>C	ENSP00000390436:p.Glu431Gln					GLI2_uc002tmq.1_Missense_Mutation_p.E103Q|GLI2_uc002tmr.1_Missense_Mutation_p.E86Q|GLI2_uc002tmt.3_Missense_Mutation_p.E103Q|GLI2_uc002tmu.3_Missense_Mutation_p.E86Q|GLI2_uc010flo.1_Missense_Mutation_p.E289Q|GLI2_uc002tmw.1_Missense_Mutation_p.E414Q	p.E431Q	NM_005270	NP_005261	P10070	GLI2_HUMAN			8	1321	+	Renal(3;0.0496)	Prostate(154;0.0623)	431						Missense_Mutation	SNP	ENST00000452319.1	37	c.1291G>C	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181698	0.94885	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.18810	2.19;2.19;2.26	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.53110	0.1776	M	0.85859	2.78	0.58432	D	0.999999	D;D;D;D;B	0.76494	0.998;0.985;0.999;0.995;0.343	D;P;D;D;P	0.78314	0.986;0.885;0.991;0.975;0.485	T	0.59156	-0.7507	10	0.72032	D	0.01	.	18.9294	0.92558	0.0:0.0:1.0:0.0	.	431;414;86;86;103	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	Q	431;431;103	ENSP00000390436:E431Q;ENSP00000354586:E431Q;ENSP00000312694:E103Q	ENSP00000312694:E103Q	E	+	1	0	GLI2	121449078	1.000000	0.71417	0.950000	0.38849	0.931000	0.56810	9.601000	0.98297	2.711000	0.92665	0.655000	0.94253	GAG		0.577	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3		NM_005270		34	59	0	0	0	0.069456	0	34	59		
NIFK	84365	broad.mit.edu	37	2	122486097	122486097	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:122486097C>T	ENST00000285814.4	-	5	652	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		194					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E194K(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						GAAATACTTTCCGTTTTCTGT	0.274																																						uc002tnk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(580-582)GAA>AAA		MKI67 interacting nucleolar phosphoprotein							45.0	46.0	46.0					2																	122486097		2201	4286	6487	SO:0001583	missense	84365				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:122486097C>T																												ENST00000285814.4:c.580G>A	2.37:g.122486097C>T	ENSP00000285814:p.Glu194Lys					uc002tnj.1_RNA	p.E194K	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN			5	657	-			194					A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	ENST00000285814.4	37	c.580G>A	CCDS2135.1	.	.	.	.	.	.	.	.	.	.	C	2.619	-0.288930	0.05605	.	.	ENSG00000155438	ENST00000285814;ENST00000447132;ENST00000451734	T;T;T	0.41065	2.48;1.01;1.55	4.1	-5.0	0.03001	.	1.242800	0.05295	N	0.521887	T	0.25938	0.0632	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41052	-0.9530	10	0.06099	T	0.92	0.3546	11.3233	0.49435	0.0:0.1611:0.0:0.8389	.	194	Q9BYG3	MK67I_HUMAN	K	194;89;162	ENSP00000285814:E194K;ENSP00000406227:E89K;ENSP00000398116:E162K	ENSP00000285814:E194K	E	-	1	0	MKI67IP	122202567	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.916000	0.04029	-1.187000	0.02709	-0.150000	0.13652	GAA		0.274	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2				14	58	0	0	0	0.0333	0	14	58		
PRPF40A	55660	broad.mit.edu	37	2	153519641	153519641	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:153519641C>T	ENST00000410080.1	-	20	2675	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	739	FF 5.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E712K(1)|p.E608K(1)|p.E739K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TTCCGAGCCTCTTCTTTTTCT	0.348																																						uc002tyh.3		NaN																	3	Substitution - Missense(3)		urinary_tract(3)		0						c.(2134-2136)GAG>AAG		formin binding protein 3							120.0	106.0	110.0					2																	153519641		1813	4076	5889	SO:0001583	missense	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153519641C>T	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.2134G>A	2.37:g.153519641C>T	ENSP00000386458:p.Glu712Lys					PRPF40A_uc002tyg.3_Missense_Mutation_p.E168K|PRPF40A_uc010zcd.1_Missense_Mutation_p.E663K	p.E712K	NM_017892	NP_060362	O75400	PR40A_HUMAN			20	2156	-			739					O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	c.2134G>A	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	C	36	5.829347	0.96996	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961	T	0.37915	1.17	5.42	5.42	0.78866	FF domain (1);	0.000000	0.85682	D	0.000000	T	0.66548	0.2800	M	0.87038	2.855	0.80722	D	1	D;D	0.63880	0.993;0.976	D;P	0.68192	0.956;0.827	T	0.72225	-0.4355	10	0.66056	D	0.02	-16.8725	19.2137	0.93767	0.0:1.0:0.0:0.0	.	739;712	O75400;E9PFS0	PR40A_HUMAN;.	K	712;721;608;663	ENSP00000386458:E712K	ENSP00000348770:E721K	E	-	1	0	PRPF40A	153227887	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.257000	0.78362	2.544000	0.85801	0.555000	0.69702	GAG		0.348	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2		XM_371575		10	16	0	0	0	0.058154	0	10	16		
LRP2	4036	broad.mit.edu	37	2	170127522	170127522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:170127522C>T	ENST00000263816.3	-	16	2497	c.2212G>A	c.(2212-2214)Ggg>Agg	p.G738R	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	738					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.G738R(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GAAGGATTCCCCGAAACTGGA	0.408																																						uc002ues.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(2212-2214)GGG>AGG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						126.0	110.0	115.0					2																	170127522		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170127522C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2212G>A	2.37:g.170127522C>T	ENSP00000263816:p.Gly738Arg					LRP2_uc010zdf.1_Intron	p.G738R	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	16	2425	-			738			Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.2212G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.925000	0.34002	.	.	ENSG00000081479	ENST00000263816	D	0.91631	-2.88	5.77	2.69	0.31865	Six-bladed beta-propeller, TolB-like (1);	0.310561	0.35870	N	0.002939	D	0.89217	0.6652	M	0.75777	2.31	0.80722	D	1	B	0.26577	0.153	B	0.24269	0.052	T	0.81636	-0.0843	10	0.22706	T	0.39	.	9.0183	0.36184	0.0:0.7379:0.1202:0.1419	.	738	P98164	LRP2_HUMAN	R	738	ENSP00000263816:G738R	ENSP00000263816:G738R	G	-	1	0	LRP2	169835768	0.970000	0.33590	0.000000	0.03702	0.106000	0.19336	3.986000	0.56937	0.332000	0.23536	0.655000	0.94253	GGG		0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525		6	27	0	0	0	0.02938	0	6	27		
GPR155	151556	broad.mit.edu	37	2	175335161	175335161	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:175335161C>G	ENST00000392552.2	-	4	1221	c.983G>C	c.(982-984)gGa>gCa	p.G328A	GPR155_ENST00000392551.2_Missense_Mutation_p.G328A|GPR155_ENST00000295500.4_Missense_Mutation_p.G328A	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	328					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G328A(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GATAGCCACTCCTGGTGCTAC	0.358																																						uc002uit.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(982-984)GGA>GCA		G protein-coupled receptor 155 isoform 9							79.0	67.0	71.0					2																	175335161		2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175335161C>G	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.983G>C	2.37:g.175335161C>G	ENSP00000376335:p.Gly328Ala					GPR155_uc002uiu.2_Missense_Mutation_p.G328A|GPR155_uc002uiv.2_Missense_Mutation_p.G328A|GPR155_uc010fqs.2_Missense_Mutation_p.G328A	p.G328A	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN			5	1374	-			328			Helical; (Potential).		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.983G>C	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255036	0.80135	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.42900	0.96;0.96;0.96	6.06	6.06	0.98353	.	0.042246	0.85682	D	0.000000	T	0.49864	0.1582	L	0.35341	1.055	0.80722	D	1	D	0.54397	0.966	P	0.55577	0.779	T	0.17048	-1.0382	10	0.27785	T	0.31	-14.0131	20.6397	0.99537	0.0:1.0:0.0:0.0	.	328	Q7Z3F1	GP155_HUMAN	A	328	ENSP00000376335:G328A;ENSP00000376334:G328A;ENSP00000295500:G328A	ENSP00000295500:G328A	G	-	2	0	GPR155	175043407	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	GGA		0.358	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1		NM_152529		15	21	0	0	0	0.028581	0	15	21		
TTC30A	92104	broad.mit.edu	37	2	178483399	178483399	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:178483399C>T	ENST00000355689.5	-	1	295	c.31G>A	c.(31-33)Gac>Aac	p.D11N	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	11					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.D11N(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AACTCCCCGTCGGGGATCTGC	0.667																																						uc002ulo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(31-33)GAC>AAC		tetratricopeptide repeat domain 30A							11.0	13.0	12.0					2																	178483399		2044	4189	6233	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178483399C>T	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.31G>A	2.37:g.178483399C>T	ENSP00000347915:p.Asp11Asn						p.D11N	NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	296	-			11			TPR 1.		A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.31G>A	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236233	0.58886	.	.	ENSG00000197557	ENST00000355689	T	0.20598	2.06	6.03	6.03	0.97812	Tetratricopeptide repeat-containing (1);	0.132112	0.64402	D	0.000003	T	0.22936	0.0554	M	0.64997	1.995	0.58432	D	0.999999	P	0.42337	0.776	B	0.29267	0.1	T	0.06534	-1.0821	10	0.87932	D	0	.	18.7402	0.91770	0.0:1.0:0.0:0.0	.	11	Q86WT1	TT30A_HUMAN	N	11	ENSP00000347915:D11N	ENSP00000347915:D11N	D	-	1	0	TTC30A	178191645	0.999000	0.42202	0.917000	0.36280	0.466000	0.32739	2.914000	0.48797	2.868000	0.98415	0.555000	0.69702	GAC		0.667	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2		NM_152275		3	8	0	0	0	0.004672	0	3	8		
DNAH7	56171	broad.mit.edu	37	2	196605504	196605504	+	Missense_Mutation	SNP	C	C	G	rs201407001		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:196605504C>G	ENST00000312428.6	-	64	11954	c.11854G>C	c.(11854-11856)Gat>Cat	p.D3952H	DNAH7_ENST00000409063.1_Missense_Mutation_p.D435H|DNAH7_ENST00000484183.1_5'UTR	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3952					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.D3952H(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGCACTGTATCATAAAGAATT	0.289																																						uc002utj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(10)|ovary(2)	12						c.(11854-11856)GAT>CAT		dynein, axonemal, heavy chain 7		C	HIS/ASP	0,3572		0,0,1786	92.0	87.0	89.0		11854	4.8	1.0	2		89	1,8125		0,1,4062	yes	missense	DNAH7	NM_018897.2	81	0,1,5848	GG,GC,CC		0.0123,0.0,0.0085	probably-damaging	3952/4025	196605504	1,11697	1786	4063	5849	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196605504C>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11854G>C	2.37:g.196605504C>G	ENSP00000311273:p.Asp3952His					DNAH7_uc002uti.3_Missense_Mutation_p.D435H	p.D3952H	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			64	11955	-			3952					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.11854G>C	CCDS42794.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.81|19.81	3.896176|3.896176	0.72639|0.72639	0.0|0.0	1.23E-4|1.23E-4	ENSG00000118997|ENSG00000118997	ENST00000312428;ENST00000409063|ENST00000438565	T;T|.	0.08896|.	3.04;3.04|.	4.83|4.83	4.83|4.83	0.62350|0.62350	Dynein heavy chain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83885|0.83885	0.5351|0.5351	M|M	0.88704|0.88704	2.975|2.975	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	D|D	0.87152|0.87152	0.2209|0.2209	10|6	0.46703|0.87932	T|D	0.11|0	.|.	17.2105|17.2105	0.86929|0.86929	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3952|.	Q8WXX0|.	DYH7_HUMAN|.	H|I	3952;435|52	ENSP00000311273:D3952H;ENSP00000386912:D435H|.	ENSP00000311273:D3952H|ENSP00000409732:M52I	D|M	-|-	1|3	0|0	DNAH7|DNAH7	196313749|196313749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	6.504000|6.504000	0.73704|0.73704	2.661000|2.661000	0.90470|0.90470	0.650000|0.650000	0.86243|0.86243	GAT|ATG		0.289	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897		18	55	0	0	0	0.043863	0	18	55		
INO80D	54891	broad.mit.edu	37	2	206872011	206872011	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:206872011C>T	ENST00000403263.1	-	10	2319	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	639					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E639K(1)|p.E534K(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						ACTATACCTTCAAAAAAATCA	0.348																																						uc002vaz.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1915-1917)GAA>AAA		INO80 complex subunit D							57.0	56.0	56.0					2																	206872011		1840	4090	5930	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206872011C>T		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1915G>A	2.37:g.206872011C>T	ENSP00000384198:p.Glu639Lys						p.E639K	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			10	2320	-			639					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.1915G>A	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553581	0.96501	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.38722	1.12	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	L	0.56769	1.78	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.63251	-0.6679	10	0.56958	D	0.05	.	19.3371	0.94324	0.0:1.0:0.0:0.0	.	639	Q53TQ3-2	.	K	639	ENSP00000384198:E639K	ENSP00000233270:E639K	E	-	1	0	INO80D	206580256	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.567000	0.86603	0.561000	0.74099	GAA		0.348	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1		NM_017759		19	41	0	0	0	0.043863	0	19	41		
CYP27A1	1593	broad.mit.edu	37	2	219679423	219679423	+	Silent	SNP	C	C	G	rs138596741		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:219679423C>G	ENST00000258415.4	+	8	1846	c.1419C>G	c.(1417-1419)gtC>gtG	p.V473V		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	473					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.V473V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GCTATGGGGTCCGGGCCTGCC	0.637																																						uc002viz.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1417-1419)GTC>GTG		cytochrome P450, family 27, subfamily A,	Cholecalciferol(DB00169)						27.0	30.0	29.0					2																	219679423		2203	4300	6503	SO:0001819	synonymous_variant	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219679423C>G	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1419C>G	2.37:g.219679423C>G							p.V473V	NM_000784	NP_000775	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	8	1853	+		Renal(207;0.0474)	473					A8K303|Q6LDB4|Q86YQ6	Silent	SNP	ENST00000258415.4	37	c.1419C>G	CCDS2423.1																																																																																				0.637	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4				13	32	0	0	0	0.020292	0	13	32		
INHA	3623	broad.mit.edu	37	2	220439960	220439960	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:220439960C>T	ENST00000243786.2	+	2	993	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	271					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.F271F(1)		large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		ACATCTCCTTCCAGGAGCTGG	0.607																																						uc002vmk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(811-813)TTC>TTT		inhibin alpha subunit precursor							134.0	132.0	132.0					2																	220439960		2203	4300	6503	SO:0001819	synonymous_variant	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220439960C>T		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.813C>T	2.37:g.220439960C>T							p.F271F	NM_002191	NP_002182	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	957	+		Renal(207;0.0183)	271					A8K8H5	Silent	SNP	ENST00000243786.2	37	c.813C>T	CCDS2444.1																																																																																				0.607	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1				27	66	0	0	0	0.034045	0	27	66		
STK11IP	114790	broad.mit.edu	37	2	220466159	220466159	+	Silent	SNP	C	C	G	rs368062862		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:220466159C>G	ENST00000456909.1	+	3	354	c.264C>G	c.(262-264)ctC>ctG	p.L88L	STK11IP_ENST00000295641.10_Silent_p.L99L|STK11IP_ENST00000459692.1_3'UTR			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	99					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)	p.L88L(1)|p.L99L(1)|p.L96L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACTTTCACTCAAGGTTCTGG	0.542																																						uc002vml.2		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	ovary(1)	1						c.(295-297)CTC>CTG		LKB1 interacting protein		C		1,3973		0,1,1986	41.0	41.0	41.0		297	3.9	1.0	2		41	0,8332		0,0,4166	no	coding-synonymous	STK11IP	NM_052902.2		0,1,6152	GG,GC,CC		0.0,0.0252,0.0081		99/1100	220466159	1,12305	1987	4166	6153	SO:0001819	synonymous_variant	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220466159C>G	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.264C>G	2.37:g.220466159C>G						STK11IP_uc010zlj.1_Silent_p.L88L|STK11IP_uc010zlk.1_Silent_p.L88L|STK11IP_uc010zll.1_Silent_p.L88L|STK11IP_uc002vmm.1_Silent_p.L88L	p.L99L	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	340	+		Renal(207;0.0183)	99					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	ENST00000456909.1	37	c.297C>G																																																																																					0.542	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1		NM_052902		14	31	0	0	0	0.024245	0	14	31		
BPIFA3	128861	broad.mit.edu	37	20	31805357	31805357	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:31805357C>T	ENST00000375454.3	+	1	225	c.15C>T	c.(13-15)ctC>ctT	p.L5L	BPIFA3_ENST00000375452.3_Silent_p.L5L|RP11-49G10.3_ENST00000419613.1_RNA|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	5						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.L5L(1)									TGTGTCCACTCTGGAGGCTCC	0.592																																						uc002wyr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(13-15)CTC>CTT		short long palate, lung and nasal epithelium							112.0	93.0	100.0					20																	31805357		2203	4300	6503	SO:0001819	synonymous_variant	128861					extracellular region	lipid binding	g.chr20:31805357C>T		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.15C>T	20.37:g.31805357C>T						C20orf71_uc002wys.2_Silent_p.L5L	p.L5L	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN			1	223	+			5					Q5JWG8|Q6NZ38	Silent	SNP	ENST00000375454.3	37	c.15C>T	CCDS13216.2																																																																																				0.592	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1		NM_178466		25	86	0	0	0	0.076483	0	25	86		
EPB41L1	2036	broad.mit.edu	37	20	34797659	34797659	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:34797659C>G	ENST00000338074.2	+	15	2079	c.1918C>G	c.(1918-1920)Ctg>Gtg	p.L640V	EPB41L1_ENST00000373950.2_Missense_Mutation_p.L531V|EPB41L1_ENST00000441639.1_Missense_Mutation_p.L566V|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373941.1_Missense_Mutation_p.L640V|EPB41L1_ENST00000202028.5_Missense_Mutation_p.L566V|EPB41L1_ENST00000373946.3_Intron	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	640					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.L640V(1)|p.L929V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTCCCGCAGCCTGCCTGAGCT	0.612																																						uc002xfb.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|pancreas(1)	3						c.(1918-1920)CTG>GTG		erythrocyte membrane protein band 4.1-like 1							65.0	56.0	59.0					20																	34797659		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34797659C>G	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1918C>G	20.37:g.34797659C>G	ENSP00000337168:p.Leu640Val					EPB41L1_uc002xeu.2_Missense_Mutation_p.L566V|EPB41L1_uc010zvo.1_Missense_Mutation_p.L640V|EPB41L1_uc002xev.2_Missense_Mutation_p.L640V|EPB41L1_uc002xew.2_Missense_Mutation_p.L531V|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.L566V|EPB41L1_uc010gfq.2_Missense_Mutation_p.L739V	p.L640V	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			15	2089	+	Breast(12;0.0239)		640					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.1918C>G	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818770	0.50633	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000344237;ENST00000338074;ENST00000373941	D;D;D;D;D	0.88431	-2.38;-2.26;-2.38;-2.24;-2.24	5.87	4.87	0.63330	.	0.162207	0.50627	D	0.000118	D	0.89497	0.6732	L	0.32530	0.975	0.40881	D	0.983998	P;D;P;P;B;B	0.71674	0.944;0.998;0.894;0.738;0.243;0.356	B;P;B;B;B;B	0.62089	0.437;0.898;0.437;0.392;0.097;0.197	D	0.86638	0.1890	10	0.25106	T	0.35	-4.1117	15.2685	0.73681	0.1405:0.8595:0.0:0.0	.	640;929;640;531;531;566	B7Z653;E9PCJ3;Q9H4G0;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;.;E41L1_HUMAN;.;.;.	V	566;531;640;531;566;929;640;640	ENSP00000202028:L566V;ENSP00000363061:L531V;ENSP00000399214:L566V;ENSP00000337168:L640V;ENSP00000363052:L640V	ENSP00000202028:L566V	L	+	1	2	EPB41L1	34261073	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	1.279000	0.33191	2.941000	0.99782	0.655000	0.94253	CTG		0.612	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3		NM_012156		31	64	0	0	0	0.045705	0	31	64		
SAMHD1	25939	broad.mit.edu	37	20	35521386	35521386	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:35521386G>A	ENST00000262878.4	-	16	2029	c.1830C>T	c.(1828-1830)ctC>ctT	p.L610L	TLDC2_ENST00000217320.3_3'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	610					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.L610L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATGCTTCTCGGAGGCGAGTTG	0.428																																						uc002xgh.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1828-1830)CTC>CTT		SAM domain- and HD domain-containing protein 1							215.0	187.0	196.0					20																	35521386		2203	4300	6503	SO:0001819	synonymous_variant	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35521386G>A	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1830C>T	20.37:g.35521386G>A						C20orf118_uc002xgg.1_3'UTR|SAMHD1_uc010gft.1_RNA	p.L610L	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN			16	1960	-		Myeloproliferative disorder(115;0.00878)	610					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Silent	SNP	ENST00000262878.4	37	c.1830C>T	CCDS13288.1																																																																																				0.428	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2		NM_015474		93	163	0	0	0	0.048971	0	93	163		
YWHAB	7529	broad.mit.edu	37	20	43535062	43535062	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:43535062G>A	ENST00000372839.3	+	7	998	c.724G>A	c.(724-726)Ggg>Agg	p.G242R	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.G242R	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	242					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.G242R(1)		breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				AGGAGACGCTGGGGAGGGAGA	0.438																																						uc002xmt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(2)|ovary(1)|breast(1)	4						c.(724-726)GGG>AGG		tyrosine 3-monooxygenase/tryptophan							158.0	139.0	145.0					20																	43535062		2203	4300	6503	SO:0001583	missense	7529				activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding	g.chr20:43535062G>A	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.724G>A	20.37:g.43535062G>A	ENSP00000361930:p.Gly242Arg					YWHAB_uc002xmu.2_Missense_Mutation_p.G242R	p.G242R	NM_003404	NP_003395	P31946	1433B_HUMAN			7	1006	+		Myeloproliferative disorder(115;0.0122)	242					A8K9K2|E1P616	Missense_Mutation	SNP	ENST00000372839.3	37	c.724G>A	CCDS13339.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960995	0.74016	.	.	ENSG00000166913	ENST00000353703;ENST00000372839	T;T	0.44482	0.92;0.92	5.63	5.63	0.86233	14-3-3 domain (1);	0.054939	0.64402	D	0.000001	T	0.41581	0.1165	L	0.43152	1.355	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.17137	-1.0379	10	0.52906	T	0.07	-20.1138	20.0401	0.97581	0.0:0.0:1.0:0.0	.	242	P31946	1433B_HUMAN	R	242	ENSP00000300161:G242R;ENSP00000361930:G242R	ENSP00000300161:G242R	G	+	1	0	YWHAB	42968476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.279000	0.95777	2.805000	0.96524	0.655000	0.94253	GGG		0.438	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3		NM_003404		34	82	0	0	0	0.080422	0	34	82		
STAU1	6780	broad.mit.edu	37	20	47734529	47734529	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:47734529G>C	ENST00000371856.2	-	11	1704	c.1294C>G	c.(1294-1296)Caa>Gaa	p.Q432E	STAU1_ENST00000340954.7_Missense_Mutation_p.Q351E|STAU1_ENST00000371828.3_Missense_Mutation_p.Q357E|STAU1_ENST00000371802.1_Missense_Mutation_p.Q357E|STAU1_ENST00000360426.4_Missense_Mutation_p.Q351E|STAU1_ENST00000347458.5_Missense_Mutation_p.Q351E|STAU1_ENST00000371792.1_Missense_Mutation_p.Q349E	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	432					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.Q432E(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGATGTCCTTGACTAACTCCT	0.532																																						uc002xud.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|kidney(1)	5						c.(1294-1296)CAA>GAA		staufen isoform b							129.0	125.0	127.0					20																	47734529		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47734529G>C		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1294C>G	20.37:g.47734529G>C	ENSP00000360922:p.Gln432Glu					STAU1_uc002xua.2_Missense_Mutation_p.Q351E|STAU1_uc002xub.2_Missense_Mutation_p.Q357E|STAU1_uc002xuc.2_Missense_Mutation_p.Q351E|STAU1_uc002xue.2_Missense_Mutation_p.Q351E|STAU1_uc002xuf.2_Missense_Mutation_p.Q357E|STAU1_uc002xug.2_Missense_Mutation_p.Q432E	p.Q432E	NM_017453	NP_059347	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		11	1705	-			432					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.1294C>G	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849194	0.71603	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.56;1.55;1.55;1.55;1.55	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.32675	0.0837	L	0.47716	1.5	0.80722	D	1	P;B	0.37864	0.61;0.354	B;B	0.36186	0.219;0.065	T	0.04078	-1.0979	10	0.45353	T	0.12	-10.1514	20.0795	0.97766	0.0:0.0:1.0:0.0	.	432;357	O95793;Q5JW29	STAU1_HUMAN;.	E	357;351;432;351;351;351;357;349	ENSP00000360893:Q357E;ENSP00000345425:Q351E;ENSP00000360922:Q432E;ENSP00000353604:Q351E;ENSP00000323443:Q351E;ENSP00000360867:Q357E;ENSP00000360857:Q349E	ENSP00000345425:Q351E	Q	-	1	0	STAU1	47167936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.747000	0.94245	0.650000	0.86243	CAA		0.532	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1		NM_017453		55	142	0	0	0	0.048971	0	55	142		
NFATC2	4773	broad.mit.edu	37	20	50049280	50049280	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:50049280C>T	ENST00000396009.3	-	9	2265	c.2046G>A	c.(2044-2046)aaG>aaA	p.K682K	NFATC2_ENST00000610033.1_Silent_p.K463K|NFATC2_ENST00000414705.1_Silent_p.K662K|NFATC2_ENST00000371564.3_Silent_p.K682K|NFATC2_ENST00000609943.1_Silent_p.K662K|NFATC2_ENST00000609507.1_Silent_p.K463K	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	682					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K682K(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGGGCTCCGTCTTGATGGCTG	0.612																																						uc002xwd.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(2044-2046)AAG>AAA		nuclear factor of activated T-cells,							25.0	26.0	25.0					20																	50049280		2077	4154	6231	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50049280C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2046G>A	20.37:g.50049280C>T						NFATC2_uc002xwc.2_Silent_p.K682K|NFATC2_uc010zyv.1_Silent_p.K463K|NFATC2_uc010zyw.1_Silent_p.K463K|NFATC2_uc010zyx.1_Silent_p.K662K|NFATC2_uc010zyy.1_Silent_p.K463K|NFATC2_uc010zyz.1_Silent_p.K463K|NFATC2_uc002xwe.2_Silent_p.K662K	p.K682K	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			9	2266	-	Hepatocellular(150;0.248)		682					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.2046G>A	CCDS13437.1																																																																																				0.612	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2		NM_012340		18	93	0	0	0	0.038395	0	18	93		
CASS4	57091	broad.mit.edu	37	20	55027048	55027048	+	Silent	SNP	C	C	G	rs143746875		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:55027048C>G	ENST00000360314.3	+	6	1041	c.816C>G	c.(814-816)ctC>ctG	p.L272L	CASS4_ENST00000371336.3_Silent_p.L272L|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	272					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.L272L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCCACGCTCTCCCCAGTTCCA	0.517																																						uc002xxp.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(814-816)CTC>CTG		HEF-like protein isoform a							64.0	67.0	66.0					20																	55027048		2203	4300	6503	SO:0001819	synonymous_variant	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027048C>G	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.816C>G	20.37:g.55027048C>G						CASS4_uc002xxq.3_Silent_p.L272L|CASS4_uc002xxr.2_Silent_p.L272L|CASS4_uc010zze.1_Silent_p.L218L|CASS4_uc010gio.2_Intron	p.L272L	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			6	1041	+			272					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	c.816C>G	CCDS33492.1																																																																																				0.517	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2		NM_020356		33	49	0	0	0	0.054565	0	33	49		
RTEL1	51750	broad.mit.edu	37	20	62324319	62324319	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:62324319C>G	ENST00000360203.5	+	29	3139	c.2814C>G	c.(2812-2814)ctC>ctG	p.L938L	RTEL1_ENST00000370003.1_Silent_p.L183L|RTEL1_ENST00000318100.4_Silent_p.L938L|RTEL1_ENST00000508582.2_Silent_p.L962L|RTEL1_ENST00000370018.3_Silent_p.L938L|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L938L					regulator of telomere elongation helicase 1									p.L938L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TCGGCCCCCTCTTTGCTGAGG	0.657																																						uc002yfu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(2812-2814)CTC>CTG		regulator of telomere elongation helicase 1							98.0	112.0	107.0					20																	62324319		2198	4293	6491	SO:0001819	synonymous_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324319C>G	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2814C>G	20.37:g.62324319C>G						RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.L938L|RTEL1_uc011abd.1_Silent_p.L962L|RTEL1_uc011abe.1_Silent_p.L715L|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Silent_p.L183L|TNFRSF6B_uc002yfy.2_5'Flank	p.L938L	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		29	3157	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		938						Silent	SNP	ENST00000360203.5	37	c.2814C>G																																																																																					0.657	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1		NM_032957		58	186	0	0	0	0.048971	0	58	186		
KRTAP13-1	140258	broad.mit.edu	37	21	31768802	31768802	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:31768802G>A	ENST00000355459.2	+	1	411	c.398G>A	c.(397-399)gGa>gAa	p.G133E		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	133						intermediate filament (GO:0005882)		p.G133E(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGGTTATGGAGGCTGTGGC	0.582																																						uc002yoa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(397-399)GGA>GAA		keratin associated protein 13-1							63.0	61.0	62.0					21																	31768802		2203	4300	6503	SO:0001583	missense	140258					intermediate filament		g.chr21:31768802G>A	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.398G>A	21.37:g.31768802G>A	ENSP00000347635:p.Gly133Glu						p.G133E	NM_181599	NP_853630	Q8IUC0	KR131_HUMAN			1	411	+			133					Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	c.398G>A	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875175	0.51695	.	.	ENSG00000198390	ENST00000355459	T	0.03330	3.97	3.8	3.8	0.43715	.	0.651148	0.12304	N	0.480839	T	0.16085	0.0387	M	0.86864	2.845	0.09310	N	1	D	0.65815	0.995	D	0.66351	0.943	T	0.37220	-0.9715	10	0.02654	T	1	.	13.9973	0.64409	0.0:0.0:1.0:0.0	.	133	Q8IUC0	KR131_HUMAN	E	133	ENSP00000347635:G133E	ENSP00000347635:G133E	G	+	2	0	KRTAP13-1	30690673	0.006000	0.16342	0.007000	0.13788	0.132000	0.20833	1.511000	0.35801	2.413000	0.81919	0.650000	0.86243	GGA		0.582	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3				23	12	0	0	0	0.076483	0	23	12		
SYNJ1	8867	broad.mit.edu	37	21	34012014	34012014	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:34012014C>T	ENST00000322229.7	-	29	3663	c.3664G>A	c.(3664-3666)Gaa>Aaa	p.E1222K	SYNJ1_ENST00000357345.3_Missense_Mutation_p.E1206K|SYNJ1_ENST00000382499.2_Missense_Mutation_p.E1261K|SYNJ1_ENST00000382491.3_Missense_Mutation_p.E1175K|SYNJ1_ENST00000433931.2_Missense_Mutation_p.E1261K			O43426	SYNJ1_HUMAN	synaptojanin 1	1222	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.E1222K(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTTTGGCTTTCAGGAGTCAGT	0.522																																						uc002yqh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(3781-3783)GAA>AAA		synaptojanin 1 isoform a							136.0	113.0	121.0					21																	34012014		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34012014C>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3664G>A	21.37:g.34012014C>T	ENSP00000322234:p.Glu1222Lys					SYNJ1_uc011ads.1_Missense_Mutation_p.E1175K|SYNJ1_uc002yqf.2_Missense_Mutation_p.E1206K|SYNJ1_uc002yqg.2_Missense_Mutation_p.E1175K|SYNJ1_uc002yqi.2_Missense_Mutation_p.E1261K|SYNJ1_uc002yqe.3_5'UTR	p.E1261K	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			30	3781	-			1222			Pro-rich.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.3781G>A	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	34	5.311710	0.95655	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.93953	-2.55;-3.32;-3.26;-2.47;-2.43	5.14	5.14	0.70334	.	0.283093	0.38326	N	0.001736	D	0.95831	0.8643	L	0.55481	1.735	0.51767	D	0.999933	B;B;B;B;D	0.67145	0.083;0.003;0.084;0.017;0.996	B;B;B;B;D	0.76071	0.069;0.002;0.022;0.015;0.987	D	0.96030	0.9016	10	0.66056	D	0.02	.	19.0015	0.92836	0.0:1.0:0.0:0.0	.	1175;1261;1222;1222;1206	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	K	1175;1206;1261;1261;1222	ENSP00000371931:E1175K;ENSP00000349903:E1206K;ENSP00000371939:E1261K;ENSP00000409667:E1261K;ENSP00000322234:E1222K	ENSP00000322234:E1222K	E	-	1	0	SYNJ1	32933885	1.000000	0.71417	0.978000	0.43139	0.987000	0.75469	5.468000	0.66743	2.584000	0.87258	0.557000	0.71058	GAA		0.522	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding					21	54	0	0	0	0.076483	0	21	54		
IL10RB	3588	broad.mit.edu	37	21	34640751	34640751	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:34640751C>G	ENST00000290200.2	+	2	210	c.102C>G	c.(100-102)ttC>ttG	p.F34L	IL10RB-AS1_ENST00000411998.1_RNA|AP000295.9_ENST00000433395.2_Nonsense_Mutation_p.S162*	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	34	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.F34L(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						CTGTTAATTTCAAGAACATTC	0.418																																					Melanoma(67;315 1275 21667 21943 44564)	uc002yrk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(100-102)TTC>TTG		interleukin 10 receptor, beta precursor							92.0	85.0	88.0					21																	34640751		2203	4300	6503	SO:0001583	missense	3588				immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity	g.chr21:34640751C>G	U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.102C>G	21.37:g.34640751C>G	ENSP00000290200:p.Phe34Leu					IL10RB_uc002yrh.1_Missense_Mutation_p.F104L|IL10RB_uc002yri.1_Intron|uc002yrj.1_5'Flank|IL10RB_uc002yrl.1_Missense_Mutation_p.F36L	p.F34L	NM_000628	NP_000619	Q08334	I10R2_HUMAN			2	201	+			34			Extracellular (Potential).		Q9BUU4	Missense_Mutation	SNP	ENST00000290200.2	37	c.102C>G	CCDS13623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.41|15.41	2.825000|2.825000	0.50739|0.50739	.|.	.|.	ENSG00000243646|ENSG00000249624	ENST00000290200;ENST00000539894|ENST00000433395	T|.	0.76578|.	-1.03|.	5.35|5.35	3.48|3.48	0.39840|0.39840	Fibronectin, type III (2);Immunoglobulin-like fold (1);|.	0.530450|.	0.19474|.	N|.	0.113373|.	T|.	0.44095|.	0.1277|.	L|L	0.46614|0.46614	1.455|1.455	0.32592|0.32592	N|N	0.527086|0.527086	B;B;B|.	0.30664|.	0.128;0.289;0.075|.	B;B;B|.	0.34038|.	0.116;0.174;0.054|.	T|.	0.52859|.	-0.8519|.	10|.	0.29301|.	T|.	0.29|.	-15.7117|-15.7117	6.3882|6.3882	0.21572|0.21572	0.0:0.6556:0.239:0.1054|0.0:0.6556:0.239:0.1054	.|.	36;34;34|.	Q6ZVU9;Q08334;F5H766|.	.;I10R2_HUMAN;.|.	L|X	34|162	ENSP00000290200:F34L|.	ENSP00000290200:F34L|.	F|S	+|+	3|2	2|0	IL10RB|AP000295.9	33562621|33562621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.383000|1.383000	0.34385|0.34385	1.247000|1.247000	0.43917|0.43917	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.418	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3				26	129	0	0	0	0.0918	0	26	129		
CLIC6	54102	broad.mit.edu	37	21	36079652	36079652	+	Silent	SNP	C	C	T	rs369846247		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:36079652C>T	ENST00000360731.3	+	3	1503	c.1503C>T	c.(1501-1503)ggC>ggT	p.G501G	CLIC6_ENST00000349499.2_Silent_p.G483G			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	501						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)	p.G483G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GGCTGAAAGGCGTTATATTTA	0.438																																						uc010gmt.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1501-1503)GGC>GGT		chloride intracellular channel 6		C		0,4406		0,0,2203	154.0	126.0	136.0		1449	-9.4	0.2	21		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CLIC6	NM_053277.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		483/687	36079652	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36079652C>T	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1503C>T	21.37:g.36079652C>T						CLIC6_uc002yuf.1_Silent_p.G483G	p.G501G	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN			3	1503	+			501			Helical; Note=After insertion into the membrane; (Potential).		A8K0U8|Q8IX31	Silent	SNP	ENST00000360731.3	37	c.1503C>T																																																																																					0.438	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1				52	64	0	0	0	0.048971	0	52	64		
TTC3	7267	broad.mit.edu	37	21	38538204	38538204	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:38538204C>T	ENST00000399017.2	+	33	6435	c.3688C>T	c.(3688-3690)Cca>Tca	p.P1230S	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.P1230S|TTC3_ENST00000355666.1_Missense_Mutation_p.P1230S	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1230					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P1230S(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATCTTCAGCACCAGCTTTTGA	0.428																																					Ovarian(38;194 1649 35661)	uc002yvz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(3688-3690)CCA>TCA		tetratricopeptide repeat domain 3							75.0	78.0	77.0					21																	38538204		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38538204C>T	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3688C>T	21.37:g.38538204C>T	ENSP00000381981:p.Pro1230Ser					TTC3_uc011aee.1_Missense_Mutation_p.P920S|TTC3_uc002ywa.2_Missense_Mutation_p.P1230S|TTC3_uc002ywb.2_Missense_Mutation_p.P1230S|TTC3_uc010gnf.2_Missense_Mutation_p.P995S|TTC3_uc002ywc.2_Missense_Mutation_p.P920S|TTC3_uc002ywd.1_Missense_Mutation_p.P294S	p.P1230S	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			33	3793	+		Myeloproliferative disorder(46;0.0412)	1230					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.3688C>T	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764513	0.31228	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.09911	2.93;2.93;2.93	3.75	0.648	0.17801	.	0.793072	0.11214	N	0.587392	T	0.08223	0.0205	L	0.47716	1.5	0.47778	D	0.999517	B;B	0.14438	0.01;0.002	B;B	0.14023	0.01;0.003	T	0.24584	-1.0156	9	.	.	.	-1.1337	2.3863	0.04366	0.4599:0.2858:0.1503:0.104	.	288;1230	Q5GIT6;P53804	.;TTC3_HUMAN	S	1230	ENSP00000347889:P1230S;ENSP00000381981:P1230S;ENSP00000346791:P1230S	.	P	+	1	0	TTC3	37460074	0.000000	0.05858	0.550000	0.28217	0.226000	0.24999	-0.621000	0.05559	0.127000	0.18452	-1.251000	0.01509	CCA		0.428	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1				7	38	0	0	0	0.038147	0	7	38		
DSCAM	1826	broad.mit.edu	37	21	41459119	41459119	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:41459119C>T	ENST00000400454.1	-	22	4423	c.3946G>A	c.(3946-3948)Gca>Aca	p.A1316T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1316	Ig-like C2-type 10.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A1316T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATTTGACTGCAGGAGAAGGG	0.473																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(3946-3948)GCA>ACA		Down syndrome cell adhesion molecule isoform							140.0	137.0	138.0					21																	41459119		1976	4160	6136	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41459119C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3946G>A	21.37:g.41459119C>T	ENSP00000383303:p.Ala1316Thr					DSCAM_uc002yyr.1_RNA	p.A1316T	NM_001389	NP_001380	O60469	DSCAM_HUMAN			22	4398	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1316			Extracellular (Potential).|Ig-like C2-type 10.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.3946G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270445	0.23221	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.65916	-0.18;-0.18	4.91	4.01	0.46588	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.172701	0.52532	D	0.000079	T	0.32285	0.0824	N	0.03983	-0.305	0.35804	D	0.823339	B	0.02656	0.0	B	0.09377	0.004	T	0.35051	-0.9804	10	0.09590	T	0.72	.	9.3777	0.38292	0.0:0.8281:0.0:0.1719	.	1316	O60469	DSCAM_HUMAN	T	1316;1068	ENSP00000383303:A1316T;ENSP00000385342:A1068T	ENSP00000383303:A1316T	A	-	1	0	DSCAM	40380989	0.985000	0.35326	0.984000	0.44739	0.798000	0.45092	2.078000	0.41567	2.423000	0.82170	0.563000	0.77884	GCA		0.473	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389		23	67	0	0	0	0.062417	0	23	67		
MIF	4282	broad.mit.edu	37	22	24236667	24236667	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:24236667G>A	ENST00000215754.7	+	1	477	c.6G>A	c.(4-6)ccG>ccA	p.P2P	AP000350.10_ENST00000433835.3_Intron|AP000350.4_ENST00000406213.1_3'UTR	NM_002415.1	NP_002406.1	P03971	MIS_HUMAN	macrophage migration inhibitory factor (glycosylation-inhibiting factor)	0					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.P2P(1)		urinary_tract(1)	1						CCATCATGCCGATGTTCATCG	0.687																																						uc002zyr.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(4-6)CCG>CCA		macrophage migration inhibitory factor							51.0	41.0	44.0					22																	24236667		2203	4300	6503	SO:0001819	synonymous_variant	4282				cell proliferation|cell surface receptor linked signaling pathway|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of cell aging|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of gene expression|positive regulation of B cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase A signaling cascade|prostaglandin biosynthetic process|protein homotrimerization|regulation of macrophage activation	cell surface|cytoplasm|extracellular space	cell surface binding|chemoattractant activity|cytokine activity|cytokine receptor binding|dopachrome isomerase activity|phenylpyruvate tautomerase activity	g.chr22:24236667G>A	M25639	CCDS13819.1	22q11.23	2007-04-26			ENSG00000240972	ENSG00000240972			7097	protein-coding gene	gene with protein product		153620		GLIF		7558020, 2552447	Standard	NM_002415		Approved	GIF	uc002zyr.1	P14174	OTTHUMG00000150773	ENST00000215754.7:c.6G>A	22.37:g.24236667G>A						MIF_uc011aje.1_Silent_p.P2P|uc002zys.1_3'UTR	p.P2P	NM_002415	NP_002406	P14174	MIF_HUMAN			1	103	+			2				Proton acceptor; via imino nitrogen.	O75246|Q6GTN3	Silent	SNP	ENST00000215754.7	37	c.6G>A	CCDS13819.1																																																																																				0.687	MIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320009.1		NM_002415		30	29	0	0	0	0.037714	0	30	29		
MYO18B	84700	broad.mit.edu	37	22	26422680	26422680	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:26422680C>T	ENST00000407587.2	+	43	6912	c.6743C>T	c.(6742-6744)tCa>tTa	p.S2248L	MYO18B_ENST00000536101.1_Missense_Mutation_p.S2247L|MYO18B_ENST00000335473.7_Missense_Mutation_p.S2247L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2247						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S2248L(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCAGTCCTTCAGCGGCCCTC	0.602																																						uc003abz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(6739-6741)TCA>TTA		myosin XVIIIB							23.0	24.0	24.0					22																	26422680		1903	4102	6005	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422680C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6743C>T	22.37:g.26422680C>T	ENSP00000386096:p.Ser2248Leu					MYO18B_uc003aca.1_Missense_Mutation_p.S2128L|MYO18B_uc010guy.1_Missense_Mutation_p.S2129L|MYO18B_uc010guz.1_Missense_Mutation_p.S2127L|MYO18B_uc011aka.1_Missense_Mutation_p.S1401L|MYO18B_uc011akb.1_Missense_Mutation_p.S1760L|MYO18B_uc010gva.1_Missense_Mutation_p.S230L|MYO18B_uc010gvb.1_RNA	p.S2247L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			43	6990	+			2247					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6740C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.811192|4.811192	0.90707|0.90707	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.94793	.|-3.5;-3.5;-3.52	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	.|0.000000	.|0.46145	.|D	.|0.000302	.|D	.|0.96722	.|0.8930	M|M	0.66939|0.66939	2.045|2.045	0.37214|0.37214	D|D	0.904922|0.904922	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;0.999;1.0;1.0	.|D;D;D;D;D	.|0.85130	.|0.997;0.994;0.994;0.997;0.997	.|D	.|0.99497	.|1.0952	.|10	.|0.87932	.|D	.|0	.|.	16.7087|16.7087	0.85379|0.85379	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1760;2249;2247;2248;2247	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	X|L	197|2247;2247;2248	.|ENSP00000441229:S2247L;ENSP00000334563:S2247L;ENSP00000386096:S2248L	.|ENSP00000334563:S2247L	Q|S	+|+	1|2	0|0	MYO18B|MYO18B	24752680|24752680	0.996000|0.996000	0.38824|0.38824	0.932000|0.932000	0.37286|0.37286	0.995000|0.995000	0.86356|0.86356	5.213000|5.213000	0.65230|0.65230	2.297000|2.297000	0.77311|0.77311	0.491000|0.491000	0.48974|0.48974	CAG|TCA		0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1		NM_032608		4	27	0	0	0	0.014758	0	4	27		
SLC5A1	6523	broad.mit.edu	37	22	32480979	32480979	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:32480979C>T	ENST00000266088.4	+	9	1228	c.978C>T	c.(976-978)ttC>ttT	p.F326F	SLC5A1_ENST00000543737.1_Silent_p.F199F	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	326					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.F326F(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	TGCCCATGTTCATCATGGTGA	0.502																																						uc003amc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(976-978)TTC>TTT		solute carrier family 5 (sodium/glucose							191.0	156.0	168.0					22																	32480979		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32480979C>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.978C>T	22.37:g.32480979C>T						SLC5A1_uc011alz.1_Silent_p.F199F	p.F326F	NM_000343	NP_000334	P13866	SC5A1_HUMAN			9	1210	+			326			Helical; (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.978C>T	CCDS13902.1																																																																																				0.502	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3		NM_000343		25	86	0	0	0	0.083992	0	25	86		
SYN3	8224	broad.mit.edu	37	22	32924939	32924939	+	Silent	SNP	C	C	T	rs138034081		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:32924939C>T	ENST00000358763.2	-	11	1394	c.1152G>A	c.(1150-1152)ctG>ctA	p.L384L	SYN3_ENST00000332840.5_Silent_p.L384L	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	384	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.L384L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGTCGGCCATCAGCTGTCTGT	0.592											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003amx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(1150-1152)CTG>CTA		synapsin III isoform IIIa		C	,,	0,4406		0,0,2203	91.0	73.0	79.0		1149,1152,1152	3.0	1.0	22	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SYN3	NM_001135774.1,NM_003490.3,NM_133633.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	383/580,384/581,384/445	32924939	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32924939C>T	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1152G>A	22.37:g.32924939C>T			OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	836	SYN3_uc003amy.2_Silent_p.L384L|SYN3_uc003amz.2_Silent_p.L383L|SYN3_uc011amc.1_Silent_p.L18L	p.L384L	NM_003490	NP_003481	O14994	SYN3_HUMAN			10	1311	-			384			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Silent	SNP	ENST00000358763.2	37	c.1152G>A	CCDS13908.1																																																																																				0.592	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4				22	83	0	0	0	0.055883	0	22	83		
APOL2	23780	broad.mit.edu	37	22	36624218	36624218	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:36624218C>G	ENST00000249066.6	-	6	722	c.246G>C	c.(244-246)ttG>ttC	p.L82F	APOL2_ENST00000451256.2_Missense_Mutation_p.L194F|APOL2_ENST00000358502.5_Missense_Mutation_p.L82F	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	82					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)	p.L82F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GAAACTCTTTCAAAAACCACT	0.507																																						uc003aoz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(244-246)TTG>TTC		apolipoprotein L2							135.0	146.0	142.0					22																	36624218		2192	4295	6487	SO:0001583	missense	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36624218C>G	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.246G>C	22.37:g.36624218C>G	ENSP00000249066:p.Leu82Phe					APOL2_uc011amm.1_Missense_Mutation_p.L194F|APOL2_uc003apa.2_Missense_Mutation_p.L82F	p.L82F	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN			5	582	-			82					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	ENST00000249066.6	37	c.246G>C	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541410	0.45280	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256;ENST00000529194	T;T;T;T	0.05382	3.45;3.45;3.45;3.45	3.66	2.6	0.31112	.	0.746166	0.12963	N	0.424866	T	0.28366	0.0701	M	0.90870	3.155	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	T	0.04693	-1.0933	10	0.66056	D	0.02	.	7.4921	0.27469	0.0:0.8741:0.0:0.1259	.	194;82	B4E1T5;Q9BQE5	.;APOL2_HUMAN	F	82;82;194;82	ENSP00000351292:L82F;ENSP00000249066:L82F;ENSP00000403153:L194F;ENSP00000431231:L82F	ENSP00000249066:L82F	L	-	3	2	APOL2	34954164	0.233000	0.23772	0.006000	0.13384	0.064000	0.16182	2.292000	0.43549	0.850000	0.35239	0.411000	0.27672	TTG		0.507	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1		NM_145637		41	139	0	0	0	0.045515	0	41	139		
APOL2	23780	broad.mit.edu	37	22	36624296	36624296	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:36624296C>G	ENST00000249066.6	-	6	644	c.168G>C	c.(166-168)ctG>ctC	p.L56L	APOL2_ENST00000451256.2_Silent_p.L168L|APOL2_ENST00000358502.5_Silent_p.L56L	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	56					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)	p.L56L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						CAAGCTTGTTCAGAGCTTTAC	0.453																																						uc003aoz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(166-168)CTG>CTC		apolipoprotein L2							130.0	139.0	136.0					22																	36624296		2168	4286	6454	SO:0001819	synonymous_variant	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36624296C>G	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.168G>C	22.37:g.36624296C>G						APOL2_uc011amm.1_Silent_p.L168L|APOL2_uc003apa.2_Silent_p.L56L	p.L56L	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN			5	504	-			56					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Silent	SNP	ENST00000249066.6	37	c.168G>C	CCDS43014.1																																																																																				0.453	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1		NM_145637		55	150	0	0	0	0.048971	0	55	150		
GGA1	26088	broad.mit.edu	37	22	38010268	38010268	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:38010268G>A	ENST00000343632.4	+	2	501	c.115G>A	c.(115-117)Gag>Aag	p.E39K	GGA1_ENST00000337437.4_Missense_Mutation_p.E39K|GGA1_ENST00000414350.3_Missense_Mutation_p.E39K|GGA1_ENST00000405147.3_Missense_Mutation_p.E39K|GGA1_ENST00000381756.5_Missense_Mutation_p.E39K|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000325180.8_Missense_Mutation_p.E39K	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	39	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E39K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GCAGCTCAACGAGGACTTTGA	0.607																																						uc003atc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|ovary(1)	3						c.(115-117)GAG>AAG		golgi associated, gamma adaptin ear containing,							86.0	74.0	78.0					22																	38010268		2203	4300	6503	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38010268G>A	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.115G>A	22.37:g.38010268G>A	ENSP00000341344:p.Glu39Lys					GGA1_uc003atb.2_Missense_Mutation_p.E39K|GGA1_uc003atd.2_Missense_Mutation_p.E39K|GGA1_uc003ate.2_Missense_Mutation_p.E39K|GGA1_uc003atf.2_5'UTR	p.E39K	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN			2	480	+	Melanoma(58;0.0574)		39			VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.115G>A	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	G	6.335	0.429890	0.11987	.	.	ENSG00000100083	ENST00000414350;ENST00000343632;ENST00000381756;ENST00000405147;ENST00000325180;ENST00000337437;ENST00000449944	T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86	4.41	0.818	0.18778	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.351753	0.31370	N	0.007771	T	0.04634	0.0126	N	0.00742	-1.23	0.36262	D	0.854609	B;B;B;B	0.22346	0.0;0.0;0.0;0.068	B;B;B;B	0.17979	0.001;0.0;0.0;0.02	T	0.35624	-0.9781	10	0.05351	T	0.99	-16.8955	3.7991	0.08751	0.2206:0.4985:0.2809:0.0	.	39;39;39;39	Q6IC75;Q86YA9;Q9UJY5;Q8NCS6	.;.;GGA1_HUMAN;.	K	39;39;39;39;39;39;31	ENSP00000414387:E39K;ENSP00000341344:E39K;ENSP00000371175:E39K;ENSP00000384030:E39K;ENSP00000321288:E39K;ENSP00000338647:E39K;ENSP00000390416:E31K	ENSP00000321288:E39K	E	+	1	0	GGA1	36340214	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	6.016000	0.70798	0.452000	0.26830	0.462000	0.41574	GAG		0.607	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3		NM_013365		13	42	0	0	0	0.09319	0	13	42		
XPNPEP3	63929	broad.mit.edu	37	22	41322359	41322359	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:41322359C>G	ENST00000357137.4	+	10	1528	c.1444C>G	c.(1444-1446)Cag>Gag	p.Q482E	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.Q459E	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	482					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)	p.Q482E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						AGTGGTGACTCAGGACTCACC	0.473																																					Ovarian(145;306 1841 7037 21878 30110)	uc003azh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1444-1446)CAG>GAG		X-prolyl aminopeptidase (aminopeptidase P) 3,							200.0	183.0	189.0					22																	41322359		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41322359C>G		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1444C>G	22.37:g.41322359C>G	ENSP00000349658:p.Gln482Glu					XPNPEP3_uc003azi.2_Missense_Mutation_p.Q403E|XPNPEP3_uc011aoy.1_RNA	p.Q482E	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN			10	1536	+			482					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.1444C>G	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.289728	0.23478	.	.	ENSG00000196236	ENST00000357137;ENST00000544094;ENST00000465561	T;T	0.72282	-0.64;-0.64	5.47	2.01	0.26516	Peptidase M24, structural domain (2);	0.472921	0.24007	N	0.042417	T	0.33702	0.0872	N	0.00760	-1.21	0.27266	N	0.958499	B	0.02656	0.0	B	0.04013	0.001	T	0.32745	-0.9895	10	0.02654	T	1	-3.8929	12.614	0.56565	0.1054:0.345:0.5496:0.0	.	482	Q9NQH7	XPP3_HUMAN	E	482;459;3	ENSP00000349658:Q482E;ENSP00000441942:Q459E	ENSP00000349658:Q482E	Q	+	1	0	XPNPEP3	39652305	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	2.465000	0.45075	0.644000	0.30656	0.563000	0.77884	CAG		0.473	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2		NM_022098		59	120	0	0	0	0.048971	0	59	120		
EP300	2033	broad.mit.edu	37	22	41565561	41565561	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:41565561G>C	ENST00000263253.7	+	26	5446	c.4227G>C	c.(4225-4227)ttG>ttC	p.L1409F	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1409	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.L1409F(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTAAATGCTTGAGGACTGCAG	0.323			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Substitution - Missense(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4225-4227)TTG>TTC		E1A binding protein p300							97.0	93.0	94.0					22																	41565561		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41565561G>C	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4227G>C	22.37:g.41565561G>C	ENSP00000263253:p.Leu1409Phe						p.L1409F	NM_001429	NP_001420	Q09472	EP300_HUMAN			26	4622	+			1409					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4227G>C	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553973	0.45487	.	.	ENSG00000100393	ENST00000263253	D	0.93953	-3.32	5.55	2.99	0.34606	.	0.000000	0.36628	N	0.002487	D	0.87402	0.6168	L	0.41632	1.29	0.36299	D	0.856918	B	0.13145	0.007	B	0.18263	0.021	T	0.82472	-0.0440	10	0.32370	T	0.25	-5.1094	5.9266	0.19116	0.0982:0.135:0.6445:0.1224	.	1409	Q09472	EP300_HUMAN	F	1409	ENSP00000263253:L1409F	ENSP00000263253:L1409F	L	+	3	2	EP300	39895507	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.895000	0.28363	1.096000	0.41439	0.557000	0.71058	TTG		0.323	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		8	119	0	0	0	0.058154	0	8	119		
MOV10L1	54456	broad.mit.edu	37	22	50546633	50546633	+	Missense_Mutation	SNP	G	G	A	rs147590689	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:50546633G>A	ENST00000262794.5	+	4	594	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	MOV10L1_ENST00000540615.1_Missense_Mutation_p.E151K|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E171K|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E171K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	171					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.E151K(1)|p.E171K(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTGGAGCAGCGAAGCCACCTC	0.602																																						uc003bjj.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|skin(1)	3						c.(511-513)GAA>AAA		MOV10-like 1 isoform 1		G	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	59.0	50.0	53.0		511,451,511	2.0	0.0	22	dbSNP_134	53	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	56,56,56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign	171/1166,151/1166,171/1212	50546633	3,13003	2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50546633G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.511G>A	22.37:g.50546633G>A	ENSP00000262794:p.Glu171Lys					MOV10L1_uc003bjk.3_Missense_Mutation_p.E171K|MOV10L1_uc011arp.1_Missense_Mutation_p.E151K|MOV10L1_uc010han.2_Missense_Mutation_p.E151K	p.E171K	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	4	594	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	171					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.511G>A	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	9.982	1.228479	0.22542	0.0	3.49E-4	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000428564	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.28	2.01	0.26516	.	0.230390	0.44688	D	0.000432	T	0.20251	0.0487	L	0.35793	1.09	0.52099	D	0.999943	B;P;B;B	0.47545	0.314;0.897;0.209;0.209	B;B;B;B	0.42214	0.062;0.38;0.028;0.028	T	0.05484	-1.0882	10	0.19590	T	0.45	-35.816	6.7503	0.23483	0.1643:0.1467:0.689:0.0	.	151;151;171;171	F5H403;E7EPK8;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	K	171;171;171;151;151	ENSP00000438978:E171K;ENSP00000262794:E171K;ENSP00000379199:E171K;ENSP00000438542:E151K	ENSP00000262794:E171K	E	+	1	0	MOV10L1	48888760	0.998000	0.40836	0.027000	0.17364	0.057000	0.15508	3.163000	0.50763	0.226000	0.20979	0.644000	0.83932	GAA		0.602	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2		NM_018995		8	17	0	0	0	0.047766	0	8	17		
EDEM1	9695	broad.mit.edu	37	3	5243458	5243458	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:5243458C>T	ENST00000256497.4	+	4	840	c.707C>T	c.(706-708)tCt>tTt	p.S236F	EDEM1_ENST00000445686.1_Missense_Mutation_p.S41F	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	236					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)	p.S236F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGCCTCCTTTCTGCTCACAGA	0.408																																						uc003bqi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(706-708)TCT>TTT		ER degradation enhancer, mannosidase alpha-like							135.0	127.0	130.0					3																	5243458		2203	4300	6503	SO:0001583	missense	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5243458C>T	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.707C>T	3.37:g.5243458C>T	ENSP00000256497:p.Ser236Phe					EDEM1_uc011asz.1_Missense_Mutation_p.S14F|EDEM1_uc003bqh.2_Missense_Mutation_p.S236F	p.S236F	NM_014674	NP_055489	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	4	839	+			236			Lumenal (Potential).		A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	c.707C>T	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147601	0.94603	.	.	ENSG00000134109	ENST00000419550;ENST00000256497;ENST00000445686	T;T	0.81330	-1.48;-1.48	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.94351	0.8184	H	0.98487	4.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;0.997	D	0.96310	0.9228	10	0.87932	D	0	-20.0024	19.4986	0.95083	0.0:1.0:0.0:0.0	.	41;236;14	B4DXP3;Q92611;B4DPV5	.;EDEM1_HUMAN;.	F	14;236;41	ENSP00000256497:S236F;ENSP00000394099:S41F	ENSP00000256497:S236F	S	+	2	0	EDEM1	5218458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.302000	0.78861	2.598000	0.87819	0.650000	0.86243	TCT		0.408	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2		NM_014674		27	106	0	0	0	0.108266	0	27	106		
IL17RC	84818	broad.mit.edu	37	3	9965627	9965627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:9965627G>T	ENST00000295981.3	+	8	1116	c.898G>T	c.(898-900)Gag>Tag	p.E300*	IL17RC_ENST00000413608.1_Nonsense_Mutation_p.E229*|IL17RC_ENST00000383812.4_Nonsense_Mutation_p.E214*|IL17RC_ENST00000416074.2_Nonsense_Mutation_p.E85*|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Nonsense_Mutation_p.E214*|IL17RC_ENST00000403601.3_Nonsense_Mutation_p.E229*	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	300					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.E300*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAATGTCTCTGAGGAGCAGCA	0.592																																						uc003bua.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(898-900)GAG>TAG		interleukin 17 receptor C isoform 1 precursor							94.0	87.0	90.0					3																	9965627		2203	4300	6503	SO:0001587	stop_gained	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9965627G>T	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.898G>T	3.37:g.9965627G>T	ENSP00000295981:p.Glu300*					CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_RNA|IL17RC_uc011ato.1_RNA|IL17RC_uc010hcs.2_Nonsense_Mutation_p.E204*|IL17RC_uc003btz.2_Nonsense_Mutation_p.E229*|IL17RC_uc011atp.1_Nonsense_Mutation_p.E85*|IL17RC_uc003bud.2_5'UTR|IL17RC_uc003bub.2_Nonsense_Mutation_p.E214*|IL17RC_uc010hct.2_Nonsense_Mutation_p.E229*|IL17RC_uc010hcu.2_Nonsense_Mutation_p.E229*|IL17RC_uc010hcv.2_Nonsense_Mutation_p.E214*|IL17RC_uc011atq.1_Nonsense_Mutation_p.E214*|IL17RC_uc003buc.2_5'UTR	p.E300*	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN			8	1134	+			300			Extracellular (Potential).		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Nonsense_Mutation	SNP	ENST00000295981.3	37	c.898G>T	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917314	0.73098	.	.	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	.	.	.	5.47	1.55	0.23275	.	0.555420	0.15995	N	0.234639	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-11.1109	5.596	0.17327	0.2458:0.1417:0.6125:0.0	.	.	.	.	X	214;189;300;204;229;85;214;229	.	ENSP00000295981:E300X	E	+	1	0	IL17RC	9940627	0.810000	0.29049	0.822000	0.32727	0.093000	0.18481	0.929000	0.28844	0.277000	0.22141	-0.197000	0.12766	GAG		0.592	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2		NM_032732		96	79	1	0	4.81362e-53	0.048971	5.16738e-53	96	79		
FANCD2	2177	broad.mit.edu	37	3	10078013	10078013	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:10078013T>G	ENST00000419585.1	+	7	642	c.481T>G	c.(481-483)Ttt>Gtt	p.F161V	FANCD2_ENST00000431693.1_Missense_Mutation_p.F161V|FANCD2_ENST00000383806.1_Missense_Mutation_p.F161V|RNU6-670P_ENST00000364312.1_RNA|FANCD2_ENST00000287647.3_Missense_Mutation_p.F161V|FANCD2_ENST00000383807.1_Missense_Mutation_p.F161V|FANCD2_ENST00000438741.1_3'UTR			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	161	Interaction with FANCE.				DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.F161V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCCAGAATATTTTTTTGAAAA	0.333			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2		NaN	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(481-483)TTT>GTT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							121.0	118.0	119.0					3																	10078013		2203	4298	6501	SO:0001583	missense	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10078013T>G	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.481T>G	3.37:g.10078013T>G	ENSP00000398754:p.Phe161Val					FANCD2_uc003bux.1_Missense_Mutation_p.F161V|FANCD2_uc003buy.1_Missense_Mutation_p.F161V|FANCD2_uc003buv.2_Missense_Mutation_p.F161V	p.F161V	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	7	559	+			161			Interaction with FANCE.		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.481T>G	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.376411	0.24857	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585;ENST00000431693	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.38	-1.53	0.08611	.	0.373539	0.30630	N	0.009207	T	0.27967	0.0689	L	0.29908	0.895	0.26186	N	0.979652	B;B;B	0.28055	0.199;0.199;0.038	B;B;B	0.33620	0.167;0.167;0.022	T	0.15178	-1.0446	10	0.20519	T	0.43	.	3.8272	0.08859	0.2763:0.2789:0.0:0.4449	.	161;161;161	Q9BXW9-2;Q9BXW9;Q9BXW9-4	.;FACD2_HUMAN;.	V	161	ENSP00000287647:F161V;ENSP00000373318:F161V;ENSP00000373317:F161V;ENSP00000398754:F161V;ENSP00000399354:F161V	ENSP00000287647:F161V	F	+	1	0	FANCD2	10053013	0.997000	0.39634	0.991000	0.47740	0.293000	0.27360	0.243000	0.18106	-0.292000	0.08999	-0.376000	0.06991	TTT		0.333	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1				20	93	0	0	0	0.069288	0	20	93		
PLCL2	23228	broad.mit.edu	37	3	17053637	17053637	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:17053637G>A	ENST00000418129.2	+	2	2886	c.2421G>A	c.(2419-2421)ctG>ctA	p.L807L	PLCL2_ENST00000432376.1_Silent_p.L807L|PLCL2_ENST00000396755.2_Silent_p.L807L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	933	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.L807L(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCACAGATCTGAGAGAAAACA	0.383																																						uc011awc.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|ovary(1)|lung(1)	4						c.(2773-2775)CTG>CTA		phospholipase C-like 2 isoform 1							46.0	51.0	49.0					3																	17053637		2202	4299	6501	SO:0001819	synonymous_variant	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17053637G>A	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2421G>A	3.37:g.17053637G>A						PLCL2_uc011awd.1_Silent_p.L807L	p.L925L	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			5	2880	+			933					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	c.2775G>A	CCDS33713.1																																																																																				0.383	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3				5	25	0	0	0	0.021553	0	5	25		
TRANK1	9881	broad.mit.edu	37	3	36872833	36872833	+	Silent	SNP	G	G	C	rs533759323		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:36872833G>C	ENST00000429976.2	-	21	8356	c.8109C>G	c.(8107-8109)gtC>gtG	p.V2703V	TRANK1_ENST00000301807.6_Silent_p.V2153V|TRANK1_ENST00000428977.2_Silent_p.V2153V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2703							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.V2153V(1)|p.V2703V(1)|p.V2146V(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTCCTCCCTGACACGCTCCA	0.592																																						uc003cgj.2		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	ovary(1)|central_nervous_system(1)	2						c.(6457-6459)GTC>GTG		lupus brain antigen 1							46.0	47.0	47.0					3																	36872833		2070	4198	6268	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872833G>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8109C>G	3.37:g.36872833G>C							p.V2153V	NM_014831	NP_055646	O15050	TRNK1_HUMAN			12	6761	-			2703					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.6459C>G	CCDS46789.2																																																																																				0.592	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014831		21	8	0	0	0	0.055883	0	21	8		
GOLGA4	2803	broad.mit.edu	37	3	37376609	37376609	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:37376609G>A	ENST00000361924.2	+	17	6632	c.6258G>A	c.(6256-6258)aaG>aaA	p.K2086K	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.K2108K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2086	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.K2086K(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCTGCAGAAGAAATACCAGC	0.398																																						uc003cgv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(6256-6258)AAG>AAA		golgi autoantigen, golgin subfamily a, 4							78.0	81.0	80.0					3																	37376609		2203	4300	6503	SO:0001819	synonymous_variant	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37376609G>A	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6258G>A	3.37:g.37376609G>A						GOLGA4_uc003cgw.2_Silent_p.K2108K|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Silent_p.K1967K	p.K2086K	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			17	6562	+			2086			Potential.|Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Silent	SNP	ENST00000361924.2	37	c.6258G>A	CCDS2666.1																																																																																				0.398	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2		NM_002078		4	10	0	0	0	0.014758	0	4	10		
ENTPD3	956	broad.mit.edu	37	3	40457435	40457435	+	Silent	SNP	G	G	A	rs370656485		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:40457435G>A	ENST00000301825.3	+	7	820	c.702G>A	c.(700-702)aaG>aaA	p.K234K	ENTPD3_ENST00000445129.1_Silent_p.K234K|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.K234K|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	234					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.K234K(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CAGGAGAGAAGATGGATCTGA	0.562																																						uc003ckd.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(700-702)AAG>AAA		ectonucleoside triphosphate diphosphohydrolase							102.0	85.0	91.0					3																	40457435		2203	4300	6503	SO:0001819	synonymous_variant	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40457435G>A	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.702G>A	3.37:g.40457435G>A						ENTPD3_uc010hhy.2_Silent_p.K234K|uc003cke.3_Intron	p.K234K	NM_001248	NP_001239	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	7	794	+			234			Extracellular (Potential).		B2R8D0|G5E9N0|O60495|Q8N6K2	Silent	SNP	ENST00000301825.3	37	c.702G>A	CCDS2691.1																																																																																				0.562	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2		NM_001248		9	22	0	0	0	0.047766	0	9	22		
PTH1R	5745	broad.mit.edu	37	3	46940250	46940250	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:46940250C>G	ENST00000313049.5	+	7	940	c.737C>G	c.(736-738)tCt>tGt	p.S246C	PTH1R_ENST00000449590.1_Missense_Mutation_p.S246C|PTH1R_ENST00000418619.1_Missense_Mutation_p.S246C|PTH1R_ENST00000430002.2_Missense_Mutation_p.S246C			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	246					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)	p.S246C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GTGCTCTACTCTGGCGCCACG	0.677																																						uc003cqm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(736-738)TCT>TGT		parathyroid hormone receptor 1 precursor							41.0	34.0	37.0					3																	46940250		2203	4300	6503	SO:0001583	missense	5745	Ollier_disease_/_Maffuci_syndrome				cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46940250C>G		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.737C>G	3.37:g.46940250C>G	ENSP00000321999:p.Ser246Cys					PTH1R_uc003cqn.2_Missense_Mutation_p.S246C	p.S246C	NM_000316	NP_000307	Q03431	PTH1R_HUMAN			9	940	+			246			Extracellular (Potential).		Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	c.737C>G	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836986	0.91117	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	4.71	4.71	0.59529	GPCR, family 2-like (1);	.	.	.	.	T	0.64605	0.2613	M	0.87180	2.865	0.80722	D	1	D	0.64830	0.994	D	0.67382	0.951	T	0.72909	-0.4149	9	0.72032	D	0.01	.	16.6272	0.84974	0.0:1.0:0.0:0.0	.	246	Q03431	PTH1R_HUMAN	C	246;246;246;246;246;444	ENSP00000402723:S246C;ENSP00000411424:S246C;ENSP00000400977:S246C;ENSP00000413774:S246C;ENSP00000321999:S246C	ENSP00000321999:S246C	S	+	2	0	PTH1R	46915254	1.000000	0.71417	0.977000	0.42913	0.933000	0.57130	4.858000	0.62947	2.151000	0.67156	0.561000	0.74099	TCT		0.677	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1		NM_000316		24	21	0	0	0	0.083992	0	24	21		
SETD2	29072	broad.mit.edu	37	3	47144868	47144868	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:47144868G>A	ENST00000409792.3	-	7	4927	c.4885C>T	c.(4885-4887)Cac>Tac	p.H1629Y		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1629	Inhibitor binding.|S-adenosyl-L-methionine binding.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.H1629Y(2)|p.H1126Y(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCACAGCTGTGATTCATGAAA	0.333			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NaN		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		4	Substitution - Missense(4)	p.R1629fs*15(1)	urinary_tract(2)|kidney(2)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(4885-4887)CAC>TAC		SET domain containing 2							171.0	158.0	162.0					3																	47144868		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47144868G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4885C>T	3.37:g.47144868G>A	ENSP00000386759:p.His1629Tyr					SETD2_uc003cqv.2_Missense_Mutation_p.H1696Y	p.H1629Y	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	7	4938	-		Acute lymphoblastic leukemia(5;0.0169)	1629			SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.4885C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900072	0.92035	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.95035	-3.59	5.83	5.83	0.93111	SET domain (3);	0.000000	0.64402	D	0.000020	D	0.98560	0.9519	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99482	1.0948	10	0.87932	D	0	.	18.2989	0.90157	0.0:0.0:1.0:0.0	.	1629;1629	F2Z317;Q9BYW2	.;SETD2_HUMAN	Y	1629	ENSP00000386759:H1629Y	ENSP00000386759:H1629Y	H	-	1	0	SETD2	47119872	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.400000	0.97290	2.775000	0.95449	0.650000	0.86243	CAC		0.333	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159		33	125	0	0	0	0.059317	0	33	125		
PHF7	51533	broad.mit.edu	37	3	52442604	52442604	+	5'Flank	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:52442604G>C	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Missense_Mutation_p.I47M|BAP1_ENST00000296288.5_Missense_Mutation_p.I47M	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.I47M(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TGAACAGGAAGATAAATCCAT	0.473																																						uc003ddx.2		NaN								N|Mis|F|S|O							uveal melanoma|breast|NSCLC		1	Substitution - Missense(1)		urinary_tract(1)	pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65						c.(139-141)ATC>ATG		BRCA1 associated protein-1							34.0	33.0	33.0					3																	52442604		2203	4299	6502	SO:0001631	upstream_gene_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52442604G>C	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442604G>C	Exception_encountered					PHF7_uc003ddy.2_5'Flank|PHF7_uc003ddz.2_5'Flank	p.I47M	NM_004656	NP_004647	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	4	256	-			47					K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.141C>G	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379916	0.82682	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.58506	0.33;0.33	5.43	4.49	0.54785	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.046614	0.85682	D	0.000000	T	0.80539	0.4642	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84770	0.0767	10	0.87932	D	0	-1.7608	12.9557	0.58425	0.085:0.0:0.915:0.0	.	47	Q92560	BAP1_HUMAN	M	47	ENSP00000417132:I47M;ENSP00000296288:I47M	ENSP00000296288:I47M	I	-	3	3	BAP1	52417644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.945000	0.56637	1.159000	0.42565	0.655000	0.94253	ATC		0.473	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		NM_016483		3	23	0	0	0	0.004672	0	3	23		
CADPS	8618	broad.mit.edu	37	3	62423823	62423823	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:62423823G>A	ENST00000383710.4	-	28	4082	c.3733C>T	c.(3733-3735)Cgt>Tgt	p.R1245C	CADPS_ENST00000357948.3_Missense_Mutation_p.R1166C|CADPS_ENST00000283269.9_Missense_Mutation_p.R1206C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1245	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.R1245C(1)|p.R1206C(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACCTTATCACGCAGGACATCC	0.448																																						uc003dll.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(2)|ovary(1)	3						c.(3733-3735)CGT>TGT		Ca2+-dependent secretion activator isoform 1							95.0	91.0	92.0					3																	62423823		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62423823G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3733C>T	3.37:g.62423823G>A	ENSP00000373215:p.Arg1245Cys					CADPS_uc003dlj.1_Missense_Mutation_p.R200C|CADPS_uc003dlk.1_Missense_Mutation_p.R693C|CADPS_uc003dlm.2_Missense_Mutation_p.R1206C|CADPS_uc003dln.2_Missense_Mutation_p.R1166C	p.R1245C	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	28	4093	-		Lung SC(41;0.0452)	1245			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3733C>T	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.962945|3.962945	0.74016|0.74016	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000466621|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.34275	.|1.37;1.37;1.37	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67126|0.67126	0.2860|0.2860	M|M	0.85041|0.85041	2.73|2.73	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.992;0.988;0.996	T|T	0.71616|0.71616	-0.4539|-0.4539	5|10	.|0.87932	.|D	.|0	.|.	19.7806|19.7806	0.96414|0.96414	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1166;1206;1245;1250	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	V|C	145|1251;1245;1166;1206	.|ENSP00000373215:R1245C;ENSP00000350632:R1166C;ENSP00000283269:R1206C	.|ENSP00000283269:R1206C	A|R	-|-	2|1	0|0	CADPS|CADPS	62398863|62398863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.897000|7.897000	0.87356|0.87356	2.668000|2.668000	0.90789|0.90789	0.644000|0.644000	0.83932|0.83932	GCG|CGT		0.448	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5		NM_003716, NM_183393, NM_183394		4	32	0	0	0	0.009096	0	4	32		
CD86	942	broad.mit.edu	37	3	121825321	121825321	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:121825321G>A	ENST00000330540.2	+	4	793	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	CD86_ENST00000493101.1_Missense_Mutation_p.R114Q|CD86_ENST00000393627.2_Missense_Mutation_p.R220Q|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R144Q	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	226					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)	p.R226Q(1)|p.R226L(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	GACAAGACGCGGCTTTTATCT	0.403																																					GBM(67;1379 1389 36064 39806)	uc003eet.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	pancreas(1)|skin(1)	2						c.(676-678)CGG>CAG		CD86 antigen isoform 1	Abatacept(DB01281)						176.0	167.0	170.0					3																	121825321		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121825321G>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.677G>A	3.37:g.121825321G>A	ENSP00000332049:p.Arg226Gln					CD86_uc011bjo.1_Missense_Mutation_p.R144Q|CD86_uc011bjp.1_Missense_Mutation_p.R114Q|CD86_uc003eeu.2_Missense_Mutation_p.R220Q	p.R226Q	NM_175862	NP_787058	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	4	793	+			226			Extracellular (Potential).		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.677G>A	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	8.377	0.836666	0.16891	.	.	ENSG00000114013	ENST00000469710;ENST00000493101;ENST00000330540;ENST00000393627	T;T;T;T	0.14144	2.74;2.53;2.74;2.74	5.25	-10.4	0.00318	.	3.170680	0.00738	N	0.000993	T	0.02767	0.0083	N	0.01352	-0.895	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.08055	0.001;0.003	T	0.36915	-0.9728	10	0.13108	T	0.6	20.4028	0.8571	0.01185	0.2622:0.3094:0.2392:0.1891	.	114;226	E9PC27;P42081	.;CD86_HUMAN	Q	144;114;226;220	ENSP00000418988:R144Q;ENSP00000420230:R114Q;ENSP00000332049:R226Q;ENSP00000377248:R220Q	ENSP00000332049:R226Q	R	+	2	0	CD86	123308011	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.480000	0.06559	-1.764000	0.01305	-2.042000	0.00416	CGG		0.403	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1		NM_006889		55	66	0	0	0	0.048971	0	55	66		
KALRN	8997	broad.mit.edu	37	3	124380748	124380748	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:124380748G>A	ENST00000291478.5	+	12	1387	c.1224G>A	c.(1222-1224)atG>atA	p.M408I	KALRN_ENST00000459915.1_Missense_Mutation_p.M197I|KALRN_ENST00000360013.3_Missense_Mutation_p.M2105I|KALRN_ENST00000428018.2_Missense_Mutation_p.M376I|KALRN_ENST00000393496.1_Missense_Mutation_p.M446I	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2104					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M2105I(1)|p.M408I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGACATGATGAATCTAGGAC	0.507																																						uc003ehg.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(6313-6315)ATG>ATA		kalirin, RhoGEF kinase isoform 1							204.0	172.0	183.0					3																	124380748		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124380748G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1224G>A	3.37:g.124380748G>A	ENSP00000291478:p.Met408Ile					KALRN_uc003ehi.2_Missense_Mutation_p.M446I|KALRN_uc003ehk.2_Missense_Mutation_p.M408I|KALRN_uc011bjz.1_Missense_Mutation_p.M197I	p.M2105I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			45	6442	+			2104					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.6315G>A	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212737	0.95069	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.29	5.29	0.74685	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.72317	0.3445	M	0.90483	3.12	0.80722	D	1	P;P;D;P	0.67145	0.943;0.938;0.996;0.841	P;D;D;P	0.78314	0.893;0.949;0.991;0.857	T	0.78193	-0.2299	10	0.87932	D	0	.	19.12	0.93358	0.0:0.0:1.0:0.0	.	197;408;446;2104	E7EUZ8;C9JQ37;O60229-5;O60229	.;.;.;KALRN_HUMAN	I	2105;446;408;376;197	ENSP00000353109:M2105I;ENSP00000377134:M446I;ENSP00000291478:M408I;ENSP00000402419:M376I;ENSP00000420318:M197I	ENSP00000291478:M408I	M	+	3	0	KALRN	125863438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.752000	0.94435	0.655000	0.94253	ATG		0.507	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5		NM_003947		89	116	0	0	0	0.048971	0	89	116		
COPB2	9276	broad.mit.edu	37	3	139085601	139085601	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:139085601C>T	ENST00000333188.5	-	15	1874	c.1693G>A	c.(1693-1695)Ggc>Agc	p.G565S	COPB2_ENST00000507777.1_Missense_Mutation_p.G536S	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	565					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.G565S(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GGAATGTAGCCTAGGAGATAC	0.413																																						uc003etf.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1693-1695)GGC>AGC		coatomer protein complex, subunit beta 2 (beta							71.0	77.0	75.0					3																	139085601		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139085601C>T	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1693G>A	3.37:g.139085601C>T	ENSP00000329419:p.Gly565Ser					COPB2_uc011bmv.1_Missense_Mutation_p.G536S|COPB2_uc010hui.2_Missense_Mutation_p.G536S	p.G565S	NM_004766	NP_004757	P35606	COPB2_HUMAN			15	1823	-			565					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.1693G>A	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326060	0.95708	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;D	0.88975	-0.24;-2.45	5.84	5.84	0.93424	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.96697	0.8922	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97301	0.9931	10	0.87932	D	0	-11.9277	20.1392	0.98050	0.0:1.0:0.0:0.0	.	565	P35606	COPB2_HUMAN	S	565;536	ENSP00000329419:G565S;ENSP00000422295:G536S	ENSP00000329419:G565S	G	-	1	0	COPB2	140568291	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.738000	0.84966	2.775000	0.95449	0.655000	0.94253	GGC		0.413	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2		NM_004766		5	26	0	0	0	0.021553	0	5	26		
GPR149	344758	broad.mit.edu	37	3	154139250	154139250	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:154139250G>A	ENST00000389740.2	-	3	1300	c.1201C>T	c.(1201-1203)Cta>Tta	p.L401L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	401					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L401L(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGGAATGATAGATTGAATTCA	0.284																																						uc003faa.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(6)	6						c.(1201-1203)CTA>TTA		G protein-coupled receptor 149							29.0	28.0	28.0					3																	154139250		1797	4063	5860	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154139250G>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1201C>T	3.37:g.154139250G>A							p.L401L	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	1301	-			401			Cytoplasmic (Potential).			Silent	SNP	ENST00000389740.2	37	c.1201C>T	CCDS43162.1																																																																																				0.284	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1		XM_293580		5	10	0	0	0	0.014758	0	5	10		
TRIM59	286827	broad.mit.edu	37	3	160156351	160156351	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:160156351G>A	ENST00000309784.4	-	3	806	c.621C>T	c.(619-621)ctC>ctT	p.L207L	RP11-432B6.3_ENST00000483754.1_Silent_p.L207L|TRIM59_ENST00000543469.1_Silent_p.L207L	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	207					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L207L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAACATCACAGAGAGCCGTTA	0.353																																						uc003fdm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(619-621)CTC>CTT		tripartite motif-containing 59							67.0	71.0	70.0					3																	160156351		2199	4296	6495	SO:0001819	synonymous_variant	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156351G>A	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.621C>T	3.37:g.160156351G>A						IFT80_uc003fda.2_RNA	p.L207L	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	816	-			207			Potential.		A8K5G9|D3DNL9	Silent	SNP	ENST00000309784.4	37	c.621C>T	CCDS3190.1																																																																																				0.353	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1		NM_173084		38	161	0	0	0	0.09836	0	38	161		
PIK3CA	5290	broad.mit.edu	37	3	178942564	178942564	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:178942564G>C	ENST00000263967.3	+	16	2528	c.2371G>C	c.(2371-2373)Gag>Cag	p.E791Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	791					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E791Q(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATCATGTCAGAGTTACTGTT	0.353		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		2	Substitution - Missense(2)		urinary_tract(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(2371-2373)GAG>CAG		phosphoinositide-3-kinase, catalytic, alpha							142.0	133.0	136.0					3																	178942564		1855	4105	5960	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178942564G>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2371G>C	3.37:g.178942564G>C	ENSP00000263967:p.Glu791Gln	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E791Q	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		16	2528	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		791					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.2371G>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520560	0.64747	.	.	ENSG00000121879	ENST00000263967	T	0.73469	-0.75	5.39	5.39	0.77823	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.61098	0.2320	N	0.17474	0.49	0.80722	D	1	B	0.32350	0.366	B	0.23574	0.047	T	0.62784	-0.6781	10	0.51188	T	0.08	-14.637	19.5188	0.95177	0.0:0.0:1.0:0.0	.	791	P42336	PK3CA_HUMAN	Q	791	ENSP00000263967:E791Q	ENSP00000263967:E791Q	E	+	1	0	PIK3CA	180425258	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.311000	0.96282	2.691000	0.91804	0.563000	0.77884	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				7	23	0	0	0	0.02938	0	7	23		
CTBP1	1487	broad.mit.edu	37	4	1206715	1206715	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:1206715A>C	ENST00000290921.6	-	8	1306	c.1125T>G	c.(1123-1125)aaT>aaG	p.N375K	CTBP1_ENST00000382952.3_Missense_Mutation_p.N364K	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	375					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.N375K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		AGGCAGCCCCATTGAGCTCAG	0.667																																						uc003gcv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1123-1125)AAT>AAG		C-terminal binding protein 1 isoform 1							60.0	58.0	59.0					4																	1206715		2201	4300	6501	SO:0001583	missense	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1206715A>C	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.1125T>G	4.37:g.1206715A>C	ENSP00000290921:p.Asn375Lys					uc003gcs.1_Intron|CTBP1_uc003gct.1_Missense_Mutation_p.N356K|CTBP1_uc003gcu.1_Missense_Mutation_p.N364K|CTBP1_uc003gcw.2_Missense_Mutation_p.N49K	p.N375K	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	8	1290	-			375					Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	ENST00000290921.6	37	c.1125T>G	CCDS3348.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.96|18.96	3.733225|3.733225	0.69189|0.69189	.|.	.|.	ENSG00000159692|ENSG00000159692	ENST00000382952;ENST00000290921|ENST00000503594;ENST00000504092	D;D|.	0.83506|.	-1.72;-1.73|.	4.34|4.34	-8.19|-8.19	0.01049|0.01049	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73337|0.73337	0.3574|0.3574	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.989;0.997;0.997|.	D;D;D|.	0.70487|.	0.969;0.928;0.928|.	T|T	0.78553|0.78553	-0.2160|-0.2160	10|5	0.56958|.	D|.	0.05|.	-23.9725|-23.9725	19.6129|19.6129	0.95616|0.95616	0.9007:0.0:0.0993:0.0|0.9007:0.0:0.0993:0.0	.|.	161;375;364|.	Q6IP95;Q13363;Q7Z2Q5|.	.;CTBP1_HUMAN;.|.	K|G	364;375|118;222	ENSP00000372411:N364K;ENSP00000290921:N375K|.	ENSP00000290921:N375K|.	N|W	-|-	3|1	2|0	CTBP1|CTBP1	1196715|1196715	0.623000|0.623000	0.27094|0.27094	0.541000|0.541000	0.28102|0.28102	0.895000|0.895000	0.52256|0.52256	-0.114000|-0.114000	0.10757|0.10757	-2.128000|-2.128000	0.00818|0.00818	-1.102000|-1.102000	0.02115|0.02115	AAT|TGG		0.667	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1		NM_001328		7	46	0	0	0	0.024245	0	7	46		
POLN	353497	broad.mit.edu	37	4	2130935	2130935	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:2130935G>A	ENST00000511885.2	-	18	2191	c.1838C>T	c.(1837-1839)tCa>tTa	p.S613L	POLN_ENST00000382865.1_Missense_Mutation_p.S613L			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	613					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.S613L(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GCCTTTGGATGAAACAAACAT	0.398								DNA polymerases (catalytic subunits)																														uc003ger.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(2)|ovary(1)|skin(1)	4						c.(1837-1839)TCA>TTA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							141.0	126.0	131.0					4																	2130935		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2130935G>A	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1838C>T	4.37:g.2130935G>A	ENSP00000435506:p.Ser613Leu					POLN_uc010icg.1_Missense_Mutation_p.S61L|POLN_uc010ich.1_Missense_Mutation_p.S145L	p.S613L	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		16	1838	-			613					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.1838C>T	CCDS3360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.10|19.10	3.761578|3.761578	0.69763|0.69763	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511098|ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857	.|T;T	.|0.24350	.|1.86;1.86	4.67|4.67	4.67|4.67	0.58626|0.58626	.|DNA-directed DNA polymerase, family A, palm domain (2);	.|0.333711	.|0.28488	.|N	.|0.015170	T|T	0.46814|0.46814	0.1412|0.1412	M|M	0.74467|0.74467	2.265|2.265	0.09310|0.09310	N|N	1|1	.|D;P;B	.|0.63880	.|0.993;0.837;0.361	.|P;B;B	.|0.61132	.|0.884;0.355;0.309	T|T	0.39840|0.39840	-0.9594|-0.9594	5|10	.|0.72032	.|D	.|0.01	-4.6787|-4.6787	13.4096|13.4096	0.60935|0.60935	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|144;304;613	.|C9JDP8;E9PE06;Q7Z5Q5	.|.;.;DPOLN_HUMAN	Y|L	246|613;613;304;144	.|ENSP00000435506:S613L;ENSP00000372316:S613L	.|ENSP00000253313:S304L	H|S	-|-	1|2	0|0	POLN|POLN	2100733|2100733	0.952000|0.952000	0.32445|0.32445	0.007000|0.007000	0.13788|0.13788	0.904000|0.904000	0.53231|0.53231	5.200000|5.200000	0.65158|0.65158	2.311000|2.311000	0.77944|0.77944	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.398	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2		NM_181808		22	63	0	0	0	0.062417	0	22	63		
ABLIM2	84448	broad.mit.edu	37	4	7985051	7985051	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:7985051G>C	ENST00000341937.5	-	19	1726	c.1662C>G	c.(1660-1662)ctC>ctG	p.L554L	ABLIM2_ENST00000361581.5_Silent_p.L515L|ABLIM2_ENST00000296372.8_Silent_p.L516L|ABLIM2_ENST00000546334.1_Silent_p.L474L|ABLIM2_ENST00000318888.4_Silent_p.L289L|ABLIM2_ENST00000447017.2_Silent_p.L588L|ABLIM2_ENST00000514025.1_Silent_p.L289L|ABLIM2_ENST00000361737.5_Silent_p.L474L|ABLIM2_ENST00000505872.1_Silent_p.L502L|ABLIM2_ENST00000407564.3_Silent_p.L464L|ABLIM2_ENST00000545242.1_Silent_p.L514L	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	554	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)	p.L588L(1)		NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TTGTGACGATGAGGGAGTCAT	0.562																																						uc003gko.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(3)	3						c.(1660-1662)CTC>CTG		actin binding LIM protein family, member 2							72.0	71.0	71.0					4																	7985051		2045	4185	6230	SO:0001819	synonymous_variant	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:7985051G>C	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1662C>G	4.37:g.7985051G>C						ABLIM2_uc003gkk.2_Silent_p.L179L|ABLIM2_uc003gkl.2_Silent_p.L282L|ABLIM2_uc003gkj.3_Silent_p.L588L|ABLIM2_uc003gkm.3_Silent_p.L502L|ABLIM2_uc003gkp.2_Silent_p.L474L|ABLIM2_uc003gkq.2_Silent_p.L515L|ABLIM2_uc003gkr.2_Silent_p.L464L|ABLIM2_uc003gki.2_RNA	p.L554L	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN			19	1805	-			554			HP.		E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Silent	SNP	ENST00000341937.5	37	c.1662C>G	CCDS47013.1																																																																																				0.562	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2		NM_001130083		6	25	0	0	0	0.021553	0	6	25		
GPR125	166647	broad.mit.edu	37	4	22449100	22449100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:22449100G>A	ENST00000334304.5	-	5	777	c.508C>T	c.(508-510)Caa>Taa	p.Q170*	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Nonsense_Mutation_p.Q170*	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	170					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.Q170*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAAGTTCCTTGAGATAATGAA	0.249																																						uc003gqm.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(1)	1						c.(508-510)CAA>TAA		G protein-coupled receptor 125 precursor							47.0	52.0	50.0					4																	22449100		2203	4287	6490	SO:0001587	stop_gained	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22449100G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.508C>T	4.37:g.22449100G>A	ENSP00000334952:p.Gln170*					GPR125_uc010ieo.1_Nonsense_Mutation_p.Q44*|GPR125_uc003gqo.2_Nonsense_Mutation_p.Q170*	p.Q170*	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			5	773	-		Breast(46;0.198)	170			Extracellular (Potential).|LRR 4.		Q6UXK9|Q86SQ5|Q8TC55	Nonsense_Mutation	SNP	ENST00000334304.5	37	c.508C>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	37	6.632840	0.97722	.	.	ENSG00000152990	ENST00000334304;ENST00000502482	.	.	.	6.01	6.01	0.97437	.	0.117629	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-29.363	20.5073	0.99209	0.0:0.0:1.0:0.0	.	.	.	.	X	170	.	ENSP00000334952:Q170X	Q	-	1	0	GPR125	22058198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.896000	0.92521	2.855000	0.98099	0.585000	0.79938	CAA		0.249	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3				12	30	0	0	0	0.020292	0	12	30		
FRYL	285527	broad.mit.edu	37	4	48517148	48517148	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:48517148C>T	ENST00000503238.1	-	53	7833	c.7834G>A	c.(7834-7836)Gaa>Aaa	p.E2612K	FRYL_ENST00000537810.1_Missense_Mutation_p.E2612K|FRYL_ENST00000507873.2_Missense_Mutation_p.E8K|FRYL_ENST00000358350.4_Missense_Mutation_p.E2612K|FRYL_ENST00000264319.7_Missense_Mutation_p.E8K			O94915	FRYL_HUMAN	FRY-like	2612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.E2612K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGGTAACTTTCAGGAGCTAGA	0.423																																						uc003gyh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(7834-7836)GAA>AAA		furry-like							153.0	140.0	144.0					4																	48517148		1865	4104	5969	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48517148C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7834G>A	4.37:g.48517148C>T	ENSP00000426064:p.Glu2612Lys					FRYL_uc003gyf.1_Missense_Mutation_p.E8K|FRYL_uc003gyg.1_Missense_Mutation_p.E1308K|FRYL_uc003gyi.1_Missense_Mutation_p.E1500K	p.E2612K	NM_015030	NP_055845	O94915	FRYL_HUMAN			56	8439	-			2612					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.7834G>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490368	0.64074	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.24151	1.87;1.87;1.87	5.96	5.96	0.96718	.	1.101170	0.07028	U	0.827996	T	0.32704	0.0838	L	0.57536	1.79	0.44956	D	0.99797	B;B;P	0.39782	0.159;0.246;0.688	B;B;B	0.31337	0.046;0.128;0.115	T	0.48198	-0.9056	10	0.52906	T	0.07	.	20.394	0.98981	0.0:1.0:0.0:0.0	.	2612;2612;8	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	K	2612;2612;2612;8;8	ENSP00000426064:E2612K;ENSP00000351113:E2612K;ENSP00000441114:E2612K	ENSP00000264319:E8K	E	-	1	0	FRYL	48211905	0.996000	0.38824	0.888000	0.34837	0.429000	0.31625	4.582000	0.60957	2.830000	0.97506	0.585000	0.79938	GAA		0.423	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2				23	29	0	0	0	0.076483	0	23	29		
NPFFR2	10886	broad.mit.edu	37	4	73013407	73013407	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:73013407C>T	ENST00000308744.6	+	4	1545	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	NPFFR2_ENST00000358749.3_Nonsense_Mutation_p.Q381*|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Nonsense_Mutation_p.Q384*	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	483					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.Q483*(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCAGCTTGTCCAGGAATCTAC	0.403																																						uc003hgg.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1447-1449)CAG>TAG		neuropeptide FF receptor 2 isoform 1							70.0	77.0	75.0					4																	73013407		2203	4300	6503	SO:0001587	stop_gained	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73013407C>T	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1447C>T	4.37:g.73013407C>T	ENSP00000307822:p.Gln483*					NPFFR2_uc010iig.1_Nonsense_Mutation_p.Q265*|NPFFR2_uc003hgi.2_Nonsense_Mutation_p.Q384*|NPFFR2_uc003hgh.2_Nonsense_Mutation_p.Q381*|NPFFR2_uc003hgj.2_RNA	p.Q483*	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1545	+			483			Cytoplasmic (Potential).		Q96RV1|Q9NR49	Nonsense_Mutation	SNP	ENST00000308744.6	37	c.1447C>T	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440760	0.83993	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	.	.	.	5.6	4.76	0.60689	.	0.277746	0.25823	N	0.028062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	11.4015	0.49873	0.0:0.8522:0.0:0.1478	.	.	.	.	X	483;384;381	.	ENSP00000307822:Q483X	Q	+	1	0	NPFFR2	73232271	0.002000	0.14202	0.008000	0.14137	0.041000	0.13682	1.649000	0.37281	1.359000	0.45940	0.563000	0.77884	CAG		0.403	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2		NM_004885		14	31	0	0	0	0.024245	0	14	31		
PPEF2	5470	broad.mit.edu	37	4	76794444	76794444	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:76794444C>T	ENST00000286719.7	-	12	1698	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	448	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.D448N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCCATGGGATCACTCCACAGG	0.433																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1342-1344)GAT>AAT		serine/threonine protein phosphatase with							106.0	103.0	104.0					4																	76794444		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76794444C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1342G>A	4.37:g.76794444C>T	ENSP00000286719:p.Asp448Asn					PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.D448N	p.D448N	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		12	1699	-			448			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1342G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946245	0.73672	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.10860	2.83	5.5	5.5	0.81552	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.138847	0.64402	D	0.000005	T	0.50939	0.1645	H	0.98027	4.13	0.49687	D	0.999812	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69304	-0.5180	10	0.62326	D	0.03	-6.8891	16.8881	0.86080	0.0:1.0:0.0:0.0	.	448;448	O14830-2;O14830	.;PPE2_HUMAN	N	448	ENSP00000286719:D448N	ENSP00000286719:D448N	D	-	1	0	PPEF2	77013468	1.000000	0.71417	0.964000	0.40570	0.177000	0.22998	7.229000	0.78088	2.587000	0.87381	0.655000	0.94253	GAT		0.433	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1		NM_006239		49	81	0	0	0	0.048971	0	49	81		
ADH1B	125	broad.mit.edu	37	4	100235073	100235073	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:100235073G>C	ENST00000305046.8	-	6	800	c.733C>G	c.(733-735)Caa>Gaa	p.Q245E	ADH1B_ENST00000394887.3_Missense_Mutation_p.Q205E			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	245					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.Q245E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TTGTAGTCTTGAGGGTTGATG	0.468																																						uc003hus.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(733-735)CAA>GAA		class I alcohol dehydrogenase, beta subunit	Fomepizole(DB01213)|NADH(DB00157)						211.0	211.0	211.0					4																	100235073		2203	4289	6492	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100235073G>C	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.733C>G	4.37:g.100235073G>C	ENSP00000306606:p.Gln245Glu					ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.Q205E|ADH1B_uc011ceh.1_Missense_Mutation_p.Q90E|ADH1B_uc011cei.1_Missense_Mutation_p.Q205E	p.Q245E	NM_000668	NP_000659	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	6	817	-			245					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.733C>G	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120097	0.37436	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.03920	3.76;3.76	3.81	3.81	0.43845	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.396425	0.27253	N	0.020210	T	0.05547	0.0146	L	0.39397	1.21	0.38276	D	0.9423	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.14578	0.001;0.003;0.011	T	0.20505	-1.0273	10	0.62326	D	0.03	-7.1684	11.0206	0.47715	0.0:0.0:0.8137:0.1863	.	232;205;245	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	E	245;205;232	ENSP00000306606:Q245E;ENSP00000378351:Q205E	ENSP00000306606:Q245E	Q	-	1	0	ADH1B	100454096	0.004000	0.15560	1.000000	0.80357	0.909000	0.53808	1.436000	0.34980	1.641000	0.50575	0.561000	0.74099	CAA		0.468	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1		NM_000668		79	93	0	0	0	0.048971	0	79	93		
MAML3	55534	broad.mit.edu	37	4	140810713	140810713	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:140810713T>G	ENST00000509479.2	-	2	2733	c.1877A>C	c.(1876-1878)aAc>aCc	p.N626T	MAML3_ENST00000327122.5_Missense_Mutation_p.N470T|MAML3_ENST00000398940.1_Missense_Mutation_p.N154T	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)									p.N626T(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CATCAAGGGGTTTTTGTTGGG	0.562																																						uc003ihz.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1864-1866)AAC>ACC		mastermind-like 3							141.0	148.0	146.0					4																	140810713		2202	4298	6500	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810713T>G	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1877A>C	4.37:g.140810713T>G	ENSP00000421180:p.Asn626Thr					MAML3_uc011chd.1_Intron	p.N622T	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN			3	2617	-	all_hematologic(180;0.162)		622			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.1865A>C	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	T	0.361	-0.939390	0.02322	.	.	ENSG00000196782	ENST00000509479;ENST00000327122;ENST00000398940	T	0.39592	1.07	5.95	-1.43	0.08884	.	0.207940	0.47852	N	0.000202	T	0.21718	0.0523	N	0.25890	0.77	0.36711	D	0.880657	B	0.06786	0.001	B	0.06405	0.002	T	0.42766	-0.9432	10	0.02654	T	1	.	11.1195	0.48281	0.0:0.0597:0.491:0.4493	.	622	Q96JK9	MAML3_HUMAN	T	626;470;154	ENSP00000421180:N626T	ENSP00000313316:N470T	N	-	2	0	MAML3	141030163	1.000000	0.71417	0.989000	0.46669	0.878000	0.50629	0.641000	0.24720	-0.444000	0.07170	-0.316000	0.08728	AAC		0.562	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2				21	246	0	0	0	0.11126	0	21	246		
ADAM29	11086	broad.mit.edu	37	4	175897020	175897020	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:175897020C>T	ENST00000359240.3	+	5	1014	c.344C>T	c.(343-345)tCc>tTc	p.S115F	ADAM29_ENST00000514159.1_Missense_Mutation_p.S115F|ADAM29_ENST00000404450.4_Missense_Mutation_p.S115F|ADAM29_ENST00000445694.1_Missense_Mutation_p.S115F|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	115			S -> F (in a cutaneous metastatic melanoma sample; somatic mutation; increases the adhesion of melanoma cells to collagens I and IV). {ECO:0000269|PubMed:21618342}.		spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S115F(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCCCTGGTTTCCCTCAGTACC	0.443																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|skin(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(343-345)TCC>TTC		ADAM metallopeptidase domain 29 preproprotein							66.0	68.0	67.0					4																	175897020		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897020C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.344C>T	4.37:g.175897020C>T	ENSP00000352177:p.Ser115Phe					ADAM29_uc003iud.2_Missense_Mutation_p.S115F|ADAM29_uc010irr.2_Missense_Mutation_p.S115F|ADAM29_uc011cki.1_Missense_Mutation_p.S115F	p.S115F	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1014	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	115					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.344C>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127514	0.56721	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	4.43	4.43	0.53597	Peptidase M12B, propeptide (1);	0.825215	0.09644	U	0.774637	T	0.32466	0.0830	M	0.84156	2.68	0.09310	N	1	D	0.69078	0.997	D	0.69824	0.966	T	0.09100	-1.0690	9	.	.	.	.	13.2325	0.59951	0.0:1.0:0.0:0.0	.	115	Q9UKF5	ADA29_HUMAN	F	115	ENSP00000352177:S115F;ENSP00000414544:S115F;ENSP00000384229:S115F;ENSP00000423517:S115F	.	S	+	2	0	ADAM29	176133595	0.000000	0.05858	0.020000	0.16555	0.866000	0.49608	0.710000	0.25748	2.391000	0.81399	0.637000	0.83480	TCC		0.443	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding					9	31	0	0	0	0.047766	0	9	31		
MARCH6	10299	broad.mit.edu	37	5	10391786	10391786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:10391786G>C	ENST00000274140.5	+	7	841	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	MARCH6_ENST00000503788.1_Missense_Mutation_p.E132Q|MARCH6_ENST00000449913.2_Missense_Mutation_p.E189Q	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	237					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E237Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ggaggacaatgaggaggaaga	0.562																																						uc003jet.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(709-711)GAG>CAG		membrane-associated ring finger (C3HC4) 6							132.0	98.0	110.0					5																	10391786		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10391786G>C	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.709G>C	5.37:g.10391786G>C	ENSP00000274140:p.Glu237Gln					MARCH6_uc011cmu.1_Missense_Mutation_p.E189Q|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.E132Q	p.E237Q	NM_005885	NP_005876	O60337	MARH6_HUMAN			7	892	+			237			Cytoplasmic (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.709G>C	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922488	0.52653	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.45276	1.9;0.9;1.91	6.02	6.02	0.97574	.	0.047704	0.85682	D	0.000000	T	0.31857	0.0810	N	0.21194	0.64	0.80722	D	1	B;B;B	0.26195	0.144;0.09;0.002	B;B;B	0.21360	0.033;0.034;0.001	T	0.09207	-1.0685	10	0.15066	T	0.55	-9.7724	20.1511	0.98086	0.0:0.0:1.0:0.0	.	132;189;237	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	Q	189;132;237	ENSP00000414643:E189Q;ENSP00000425930:E132Q;ENSP00000274140:E237Q	ENSP00000274140:E237Q	E	+	1	0	MARCH6	10444786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.135000	0.71696	2.865000	0.98341	0.655000	0.94253	GAG		0.562	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2		NM_005885		23	24	0	0	0	0.076483	0	23	24		
C1QTNF3	114899	broad.mit.edu	37	5	34043213	34043213	+	Silent	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:34043213G>T	ENST00000231338.7	-	1	105	c.18C>A	c.(16-18)ctC>ctA	p.L6L	RP11-1084J3.4_ENST00000382079.3_Intron|C1QTNF3_ENST00000382065.3_Silent_p.L6L	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	6					cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.L6L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					GCCAATAGATGAGCTGCCTCC	0.507																																						uc003jin.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(16-18)CTC>CTA		C1q and tumor necrosis factor related protein 3							97.0	98.0	98.0					5																	34043213		2203	4300	6503	SO:0001819	synonymous_variant	114899					collagen		g.chr5:34043213G>T	AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"""cartonectin"""	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.18C>A	5.37:g.34043213G>T						C1QTNF3_uc003jio.2_Silent_p.L6L	p.L6L	NM_030945	NP_112207	Q9BXJ4	C1QT3_HUMAN			1	105	-	all_lung(31;0.0207)		6					Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Silent	SNP	ENST00000231338.7	37	c.18C>A	CCDS3904.1																																																																																				0.507	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207469.1		NM_030945		11	36	1	0	3.86212e-05	0.069234	3.92937e-05	11	36		
NIPBL	25836	broad.mit.edu	37	5	37020905	37020905	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:37020905G>A	ENST00000282516.8	+	27	5753	c.5254G>A	c.(5254-5256)Gat>Aat	p.D1752N	NIPBL_ENST00000448238.2_Missense_Mutation_p.D1752N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1752					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.D1752N(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGACTATGATGATGCTTGCTT	0.348																																						uc003jkl.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(5254-5256)GAT>AAT		delangin isoform A							238.0	230.0	233.0					5																	37020905		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37020905G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5254G>A	5.37:g.37020905G>A	ENSP00000282516:p.Asp1752Asn					NIPBL_uc003jkk.3_Missense_Mutation_p.D1752N	p.D1752N	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		27	5753	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1752					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.5254G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278648	0.80692	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.63580	-0.05;-0.05	5.9	5.9	0.94986	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53562	0.1804	N	0.24115	0.695	0.80722	D	1	B;P	0.36768	0.264;0.569	B;B	0.39590	0.189;0.304	T	0.45991	-0.9223	10	0.19590	T	0.45	.	20.2787	0.98501	0.0:0.0:1.0:0.0	.	1752;1752	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	N	1752	ENSP00000282516:D1752N;ENSP00000406266:D1752N	ENSP00000282516:D1752N	D	+	1	0	NIPBL	37056662	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.397000	0.97276	2.798000	0.96311	0.650000	0.86243	GAT		0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1		NM_015384		56	208	0	0	0	0.048971	0	56	208		
NNT	23530	broad.mit.edu	37	5	43650630	43650630	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:43650630C>A	ENST00000264663.5	+	12	1879	c.1658C>A	c.(1657-1659)tCc>tAc	p.S553Y	NNT_ENST00000512996.2_Missense_Mutation_p.S422Y|NNT_ENST00000344920.4_Missense_Mutation_p.S553Y	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	553					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.S553Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TTGTATCCTTCCACAACTTCT	0.443																																						uc003joe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1657-1659)TCC>TAC		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						233.0	205.0	214.0					5																	43650630		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43650630C>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1658C>A	5.37:g.43650630C>A	ENSP00000264663:p.Ser553Tyr					NNT_uc003jof.2_Missense_Mutation_p.S553Y	p.S553Y	NM_012343	NP_036475	Q13423	NNTM_HUMAN			12	1913	+	Lung NSC(6;2.58e-06)		553					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1658C>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449566	0.63178	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	T;T;T	0.77750	-1.12;-1.12;-1.12	5.32	4.44	0.53790	NAD(P) transhydrogenase, alpha subunit, C-terminal (1);	0.841724	0.10837	N	0.628714	D	0.85835	0.5789	M	0.87269	2.87	0.20074	N	0.999936	P	0.40107	0.703	P	0.51229	0.663	T	0.76626	-0.2890	10	0.87932	D	0	0.0545	8.5175	0.33255	0.1919:0.7271:0.0:0.0809	.	553	Q13423	NNTM_HUMAN	Y	68;553;553;422	ENSP00000264663:S553Y;ENSP00000343873:S553Y;ENSP00000426343:S422Y	ENSP00000264663:S553Y	S	+	2	0	NNT	43686387	0.003000	0.15002	0.993000	0.49108	0.919000	0.55068	1.858000	0.39408	1.212000	0.43366	0.650000	0.86243	TCC		0.443	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1		NM_182977		19	53	1	0	6.44725e-10	0.069288	6.69271e-10	19	53		
F2RL1	2150	broad.mit.edu	37	5	76128897	76128897	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:76128897C>G	ENST00000296677.4	+	2	671	c.465C>G	c.(463-465)ttC>ttG	p.F155L		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	155					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.F155L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TTGGCTTTTTCTATGGCAACA	0.468																																						uc003keo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(463-465)TTC>TTG		coagulation factor II (thrombin) receptor-like 1							355.0	337.0	343.0					5																	76128897		2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76128897C>G	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.465C>G	5.37:g.76128897C>G	ENSP00000296677:p.Phe155Leu						p.F155L	NM_005242	NP_005233	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	640	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	155			Helical; Name=3; (Potential).		Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.465C>G	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362522	0.82353	.	.	ENSG00000164251	ENST00000514165;ENST00000296677	T;T	0.38401	1.14;1.14	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50004	-0.8878	10	0.54805	T	0.06	-47.5905	13.1127	0.59283	0.0:0.8865:0.0:0.1135	.	155	P55085	PAR2_HUMAN	L	61;155	ENSP00000425622:F61L;ENSP00000296677:F155L	ENSP00000296677:F155L	F	+	3	2	F2RL1	76164653	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.152000	0.50677	2.820000	0.97059	0.655000	0.94253	TTC		0.468	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2				115	294	0	0	0	0.048971	0	115	294		
LYSMD3	116068	broad.mit.edu	37	5	89815090	89815090	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:89815090G>A	ENST00000315948.6	-	3	611	c.467C>T	c.(466-468)tCa>tTa	p.S156L	LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	156						integral component of membrane (GO:0016021)		p.S156L(1)		breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GCTACCAGCTGAGTCACTGTA	0.398																																						uc003kjr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(466-468)TCA>TTA		LysM, putative peptidoglycan-binding, domain							150.0	141.0	144.0					5																	89815090		1839	4095	5934	SO:0001583	missense	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89815090G>A	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.467C>T	5.37:g.89815090G>A	ENSP00000314518:p.Ser156Leu					LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_3'UTR	p.S156L	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	615	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	156			Extracellular (Potential).		Q5H9U0|Q6PEK0|Q9NTE9	Missense_Mutation	SNP	ENST00000315948.6	37	c.467C>T	CCDS43338.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880965	0.51801	.	.	ENSG00000176018;ENSG00000259141	ENST00000315948;ENST00000554351	T	0.17528	2.27	5.73	4.86	0.63082	.	0.200887	0.50627	N	0.000101	T	0.19525	0.0469	L	0.58101	1.795	0.41124	D	0.985837	B	0.06786	0.001	B	0.08055	0.003	T	0.02588	-1.1137	10	0.28530	T	0.3	-16.8241	14.7709	0.69679	0.0695:0.0:0.9305:0.0	.	156	Q7Z3D4	LYSM3_HUMAN	L	156	ENSP00000314518:S156L	ENSP00000314518:S156L	S	-	2	0	AC027323.1;LYSMD3	89850846	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.540000	0.60664	1.422000	0.47177	0.591000	0.81541	TCA		0.398	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2		XM_371760		14	41	0	0	0	0.020292	0	14	41		
PCDHB8	56128	broad.mit.edu	37	5	140558048	140558048	+	Missense_Mutation	SNP	G	G	A	rs572220370	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:140558048G>A	ENST00000239444.2	+	1	678	c.433G>A	c.(433-435)Gag>Aag	p.E145K	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	145	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E145K(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAGTATCAGAGAGCAGTCC	0.418																																						uc011dai.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)	4						c.(433-435)GAG>AAG		protocadherin beta 8 precursor							56.0	88.0	77.0					5																	140558048		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558048G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.433G>A	5.37:g.140558048G>A	ENSP00000239444:p.Glu145Lys					PCDHB16_uc003liv.2_5'Flank	p.E145K	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	619	+			145			Cadherin 2.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.433G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.975635	0.74360	.	.	ENSG00000120322	ENST00000239444	T	0.76316	-1.01	4.25	4.25	0.50352	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.94305	0.8170	H	0.99959	5.06	0.36292	D	0.856478	D	0.89917	1.0	D	0.97110	1.0	D	0.99928	1.1300	9	0.87932	D	0	.	16.2711	0.82622	0.0:0.0:1.0:0.0	.	145	Q9UN66	PCDB8_HUMAN	K	145	ENSP00000239444:E145K	ENSP00000239444:E145K	E	+	1	0	PCDHB8	140538232	1.000000	0.71417	0.999000	0.59377	0.793000	0.44817	7.951000	0.87819	1.911000	0.55334	0.585000	0.79938	GAG		0.418	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2		NM_019120		49	267	0	0	0	0.048971	0	49	267		
SLC25A2	83884	broad.mit.edu	37	5	140683343	140683343	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:140683343G>A	ENST00000239451.4	-	1	269	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	30					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.F30F(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TTATTGTGTCGAAGGGCTGCC	0.597																																						uc003ljf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(88-90)TTC>TTT		solute carrier family 25 member 2	L-Ornithine(DB00129)						74.0	73.0	73.0					5																	140683343		2203	4300	6503	SO:0001819	synonymous_variant	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683343G>A	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.90C>T	5.37:g.140683343G>A							p.F30F	NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	270	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	30			Solcar 1.		Q496C1|Q6XUI0|Q8NFZ2	Silent	SNP	ENST00000239451.4	37	c.90C>T	CCDS4258.1																																																																																				0.597	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2		NM_031947		17	40	0	0	0	0.038395	0	17	40		
PCDHGB4	8641	broad.mit.edu	37	5	140769192	140769192	+	Missense_Mutation	SNP	G	G	C	rs370704204		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:140769192G>C	ENST00000519479.1	+	1	1741	c.1741G>C	c.(1741-1743)Gag>Cag	p.E581Q	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	581	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E581Q(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACGCTGCAGAGCCTGGCTA	0.652																																						uc003lkc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1741-1743)GAG>CAG		protocadherin gamma subfamily B, 4 isoform 1							40.0	48.0	45.0					5																	140769192		2188	4287	6475	SO:0001583	missense	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140769192G>C	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1741G>C	5.37:g.140769192G>C	ENSP00000428288:p.Glu581Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.E581Q	p.E581Q	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1741	+			581			Extracellular (Potential).|Cadherin 6.		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1741G>C	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	14.22	2.470130	0.43839	.	.	ENSG00000253953	ENST00000519479	T	0.50813	0.73	5.05	2.13	0.27403	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.47266	0.1436	M	0.67700	2.07	0.22710	N	0.998822	B;B	0.23735	0.073;0.09	B;B	0.31101	0.076;0.124	T	0.43734	-0.9373	9	0.35671	T	0.21	.	10.7397	0.46145	0.0952:0.1967:0.7081:0.0	.	581;581	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	Q	581	ENSP00000428288:E581Q	ENSP00000428288:E581Q	E	+	1	0	PCDHGB4	140749376	0.801000	0.28930	1.000000	0.80357	0.964000	0.63967	2.643000	0.46604	1.265000	0.44215	0.563000	0.77884	GAG		0.652	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1		NM_003736		12	39	0	0	0	0.09319	0	12	39		
SLC36A3	285641	broad.mit.edu	37	5	150666828	150666828	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:150666828C>T	ENST00000335230.3	-	6	1098	c.687G>A	c.(685-687)ctG>ctA	p.L229L	SLC36A3_ENST00000377713.3_Silent_p.L270L	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	229						integral component of membrane (GO:0016021)		p.L229L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTCAAAGATCAGAGCCATGC	0.517																																						uc003ltw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(685-687)CTG>CTA		solute carrier family 36, member 3 isoform 2							105.0	99.0	101.0					5																	150666828		2203	4300	6503	SO:0001819	synonymous_variant	285641					integral to membrane		g.chr5:150666828C>T	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.687G>A	5.37:g.150666828C>T						GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.L214L|SLC36A3_uc003ltx.2_Silent_p.L270L	p.L229L	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1106	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	229			Helical; (Potential).		Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Silent	SNP	ENST00000335230.3	37	c.687G>A	CCDS4314.1																																																																																				0.517	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1		NM_181774		17	40	0	0	0	0.0333	0	17	40		
G3BP1	10146	broad.mit.edu	37	5	151179852	151179852	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:151179852C>T	ENST00000394123.3	+	10	1174	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	G3BP1_ENST00000356245.3_Silent_p.F343F|G3BP1_ENST00000543466.1_Silent_p.F161F			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	343	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.F343F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			ACCAACTCTTCATTGGCAACC	0.418																																						uc003lun.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(3)|ovary(1)	4						c.(1027-1029)TTC>TTT		Ras-GTPase-activating protein SH3-domain-binding							116.0	107.0	110.0					5																	151179852		2203	4300	6503	SO:0001819	synonymous_variant	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151179852C>T	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1029C>T	5.37:g.151179852C>T						G3BP1_uc003lum.2_Silent_p.F343F|G3BP1_uc011dcu.1_Silent_p.F161F|G3BP1_uc010jhz.2_Silent_p.F161F|G3BP1_uc003luq.2_Silent_p.F11F	p.F343F	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1200	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	343			RRM.		Q5HYE9	Silent	SNP	ENST00000394123.3	37	c.1029C>T	CCDS4319.1																																																																																				0.418	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1		NM_005754		26	53	0	0	0	0.108266	0	26	53		
GABRA6	2559	broad.mit.edu	37	5	161116651	161116651	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:161116651C>A	ENST00000274545.5	+	6	972	c.539C>A	c.(538-540)cCc>cAc	p.P180H	GABRA6_ENST00000523217.1_Missense_Mutation_p.P170H|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	180			P -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P180H(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GATGCTTATCCCAAAAGTGAA	0.328										TCGA Ovarian(5;0.080)																												uc003lyu.2		NaN																	2	Substitution - Missense(2)	p.P180H(1)	urinary_tract(1)|large_intestine(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(538-540)CCC>CAC		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						37.0	40.0	39.0					5																	161116651		2198	4298	6496	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116651C>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.539C>A	5.37:g.161116651C>A	ENSP00000274545:p.Pro180His	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_5'UTR	p.P180H	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	877	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	180		P -> H (in a colorectal cancer sample; somatic mutation).	Extracellular (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.539C>A	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.289939|4.289939	0.80914|0.80914	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691|ENST00000520000	T;T;T;T|T	0.77750|0.76060	-1.12;-1.12;-1.12;-1.12|-0.99	5.4|5.4	5.4|5.4	0.78164|0.78164	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.81626|0.81626	0.4862|0.4862	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.78242|0.78242	-0.2280|-0.2280	10|8	0.72032|0.02654	D|T	0.01|1	.|.	19.1707|19.1707	0.93576|0.93576	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	180|.	Q16445|.	GBRA6_HUMAN|.	H|T	180;170;127;100|120	ENSP00000274545:P180H;ENSP00000430527:P170H;ENSP00000430212:P127H;ENSP00000427989:P100H|ENSP00000429943:P120T	ENSP00000274545:P180H|ENSP00000429943:P120T	P|P	+|+	2|1	0|0	GABRA6|GABRA6	161049229|161049229	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.666000|7.666000	0.83877|0.83877	2.522000|2.522000	0.85027|0.85027	0.650000|0.650000	0.86243|0.86243	CCC|CCA		0.328	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2				6	15	1	0	1.06961e-07	0.038147	1.09918e-07	6	15		
SLC34A1	6569	broad.mit.edu	37	5	176815096	176815096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:176815096G>A	ENST00000324417.5	+	7	837	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	SLC34A1_ENST00000512593.1_Missense_Mutation_p.R249Q	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	249					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.R249Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACATCACTCGACTTGTGGTG	0.592																																						uc003mgk.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(745-747)CGA>CAA		solute carrier family 34 (sodium phosphate),							70.0	62.0	65.0					5																	176815096		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176815096G>A	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.746G>A	5.37:g.176815096G>A	ENSP00000321424:p.Arg249Gln						p.R249Q	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	847	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	249			Extracellular (Potential).		B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.746G>A	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.278848	0.01410	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	T;T	0.42900	0.96;1.59	5.05	0.635	0.17723	.	0.683621	0.14166	N	0.337003	T	0.26412	0.0645	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.24512	-1.0158	10	0.11794	T	0.64	-23.8584	11.5009	0.50437	0.3668:0.0:0.6332:0.0	.	249	Q06495	NPT2A_HUMAN	Q	249	ENSP00000423022:R249Q;ENSP00000321424:R249Q	ENSP00000321424:R249Q	R	+	2	0	SLC34A1	176747702	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.373000	0.20484	0.186000	0.20125	-1.149000	0.01842	CGA		0.592	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1		NM_003052		17	47	0	0	0	0.043863	0	17	47		
RUFY1	80230	broad.mit.edu	37	5	179023597	179023597	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:179023597G>A	ENST00000319449.4	+	13	1558	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	RUFY1_ENST00000437570.2_Missense_Mutation_p.E408K|RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000393438.2_Missense_Mutation_p.E408K|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	516					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.E408K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGGGGGCTGAGGAGCGGAG	0.617										HNSCC(44;0.11)																												uc003mka.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(1)	5						c.(1546-1548)GAG>AAG		RUN and FYVE domain-containing 1 isoform a							71.0	86.0	81.0					5																	179023597		2188	4259	6447	SO:0001583	missense	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179023597G>A	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1546G>A	5.37:g.179023597G>A	ENSP00000325594:p.Glu516Lys	HNSCC(44;0.11)				RUFY1_uc003mkb.1_Missense_Mutation_p.E408K|RUFY1_uc003mkc.1_Missense_Mutation_p.E408K|RUFY1_uc003mkd.1_Missense_Mutation_p.E118K	p.E516K	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1546	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	516			Potential.		Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	c.1546G>A	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327193	0.60743	.	.	ENSG00000176783	ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569	T;T;T	0.56611	0.45;0.51;0.51	5.3	5.3	0.74995	.	0.048096	0.85682	D	0.000000	T	0.59266	0.2181	M	0.82056	2.57	0.80722	D	1	B	0.29085	0.232	B	0.33295	0.161	T	0.60525	-0.7246	10	0.44086	T	0.13	-31.3843	16.0344	0.80612	0.0:0.0:1.0:0.0	.	516	Q96T51	RUFY1_HUMAN	K	516;408;408;118	ENSP00000325594:E516K;ENSP00000390025:E408K;ENSP00000377087:E408K	ENSP00000325594:E516K	E	+	1	0	RUFY1	178956203	1.000000	0.71417	0.951000	0.38953	0.038000	0.13279	6.108000	0.71522	2.631000	0.89168	0.561000	0.74099	GAG		0.617	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2		NM_001040451		48	123	0	0	0	0.048971	0	48	123		
RPP40	10799	broad.mit.edu	37	6	4996532	4996532	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:4996532C>T	ENST00000380051.2	-	6	726	c.682G>A	c.(682-684)Gag>Aag	p.E228K	RPP40_ENST00000464646.1_Missense_Mutation_p.E168K|RPP40_ENST00000319533.5_Missense_Mutation_p.E205K	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	228					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)	p.E228K(1)		NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GGCGTTCCCTCCAGCTCGCTG	0.557																																						uc003mwl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(682-684)GAG>AAG		ribonuclease P 40kDa subunit							68.0	69.0	69.0					6																	4996532		2203	4300	6503	SO:0001583	missense	10799				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr6:4996532C>T	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.682G>A	6.37:g.4996532C>T	ENSP00000369391:p.Glu228Lys					RPP40_uc003mwm.2_Missense_Mutation_p.E205K	p.E228K	NM_006638	NP_006629	O75818	RPP40_HUMAN			6	717	-	Ovarian(93;0.11)	all_hematologic(90;0.0895)	228					Q5VX97|Q8WVK8	Missense_Mutation	SNP	ENST00000380051.2	37	c.682G>A	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	C	7.564	0.665303	0.14710	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	T;T;T	0.41065	1.01;1.01;1.01	5.33	-10.7	0.00240	.	1.240350	0.05199	N	0.504558	T	0.06234	0.0161	L	0.33485	1.01	0.09310	N	1	B;B	0.19200	0.034;0.008	B;B	0.13407	0.008;0.009	T	0.10268	-1.0637	10	0.06891	T	0.86	-10.0083	7.2684	0.26242	0.0554:0.2613:0.4073:0.2761	.	205;228	O75818-2;O75818	.;RPP40_HUMAN	K	228;205;168	ENSP00000369391:E228K;ENSP00000317998:E205K;ENSP00000419431:E168K	ENSP00000317998:E205K	E	-	1	0	RPP40	4941531	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.920000	0.01571	-3.332000	0.00185	-0.188000	0.12872	GAG		0.557	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2		NM_006638		43	84	0	0	0	0.104719	0	43	84		
RREB1	6239	broad.mit.edu	37	6	7231959	7231959	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:7231959C>T	ENST00000349384.6	+	10	3941	c.3627C>T	c.(3625-3627)gcC>gcT	p.A1209A	RREB1_ENST00000334984.6_Silent_p.A1209A|RREB1_ENST00000379938.2_Silent_p.A1209A|RREB1_ENST00000379933.3_Silent_p.A1209A	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1209					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A1209A(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATGAGGTGGCCGGAGCCCCTG	0.602																																						uc003mxc.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(3625-3627)GCC>GCT		ras responsive element binding protein 1 isoform							40.0	38.0	38.0					6																	7231959		2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231959C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3627C>T	6.37:g.7231959C>T						RREB1_uc003mxb.2_Silent_p.A1209A|RREB1_uc010jnx.2_Silent_p.A1209A	p.A1209A	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	4017	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1209					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.3627C>T	CCDS34336.1																																																																																				0.602	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1				18	28	0	0	0	0.049695	0	18	28		
HIVEP1	3096	broad.mit.edu	37	6	12122972	12122972	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:12122972T>A	ENST00000379388.2	+	4	3276	c.2944T>A	c.(2944-2946)Tgt>Agt	p.C982S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	982					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C982S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAAATTTTACTGTTCTGAGTT	0.428																																						uc003nac.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2944-2946)TGT>AGT		human immunodeficiency virus type I enhancer							84.0	87.0	86.0					6																	12122972		1847	4088	5935	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122972T>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2944T>A	6.37:g.12122972T>A	ENSP00000368698:p.Cys982Ser					HIVEP1_uc011diq.1_RNA	p.C982S	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	3123	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	982			C2H2-type 3.		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2944T>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.221704	0.79464	.	.	ENSG00000095951	ENST00000379388	T	0.20463	2.07	5.95	5.95	0.96441	Zinc finger, C2H2-like (1);	0.197051	0.25487	N	0.030336	T	0.38427	0.1040	M	0.83012	2.62	0.80722	D	1	D	0.64830	0.994	P	0.60286	0.872	T	0.31943	-0.9925	9	.	.	.	-9.211	16.4159	0.83738	0.0:0.0:0.0:1.0	.	982	P15822	ZEP1_HUMAN	S	982	ENSP00000368698:C982S	.	C	+	1	0	HIVEP1	12230958	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	TGT		0.428	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		37	78	0	0	0	0.059317	0	37	78		
SLC17A4	10050	broad.mit.edu	37	6	25773814	25773814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:25773814C>G	ENST00000377905.4	+	8	1018	c.899C>G	c.(898-900)tCt>tGt	p.S300C	SLC17A4_ENST00000397076.2_Missense_Mutation_p.S70C|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	300					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.S300C(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATTTTAGTCTCTTATTTCTGT	0.448																																						uc003nfe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(898-900)TCT>TGT		solute carrier family 17 (sodium phosphate),							173.0	152.0	159.0					6																	25773814		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25773814C>G	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.899C>G	6.37:g.25773814C>G	ENSP00000367137:p.Ser300Cys					SLC17A4_uc011djx.1_Intron|SLC17A4_uc003nff.1_Missense_Mutation_p.S61C|SLC17A4_uc003nfg.2_Missense_Mutation_p.S237C|SLC17A4_uc010jqa.2_Missense_Mutation_p.S13C	p.S300C	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN			8	1018	+			300			Helical; (Potential).		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.899C>G	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276507	0.40294	.	.	ENSG00000146039	ENST00000377905;ENST00000397076	T;T	0.59364	0.27;0.27	5.34	-0.469	0.12142	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.806235	0.10821	N	0.630520	T	0.12433	0.0302	N	0.04880	-0.145	0.09310	N	1	B;B	0.15719	0.014;0.003	B;B	0.17433	0.018;0.012	T	0.29912	-0.9996	10	0.31617	T	0.26	.	5.8719	0.18809	0.0:0.5585:0.1399:0.3016	.	70;300	E7EU17;Q9Y2C5	.;S17A4_HUMAN	C	300;70	ENSP00000367137:S300C;ENSP00000380266:S70C	ENSP00000367137:S300C	S	+	2	0	SLC17A4	25881793	0.000000	0.05858	0.000000	0.03702	0.976000	0.68499	0.072000	0.14617	-0.353000	0.08224	0.655000	0.94253	TCT		0.448	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1				3	32	0	0	0	0.004672	0	3	32		
BTN2A1	11120	broad.mit.edu	37	6	26459787	26459787	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:26459787C>T	ENST00000312541.5	+	3	409	c.161C>T	c.(160-162)tCa>tTa	p.S54L	BTN2A1_ENST00000541522.1_5'UTR|BTN2A1_ENST00000469185.1_Missense_Mutation_p.S54L|BTN2A1_ENST00000429381.1_Missense_Mutation_p.S54L	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	54	Ig-like V-type.				lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.S54L(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGCCATCTGTCACCCGAGAAA	0.532																																						uc003nib.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(160-162)TCA>TTA		butyrophilin, subfamily 2, member A1 isoform 1							146.0	125.0	132.0					6																	26459787		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26459787C>T	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.161C>T	6.37:g.26459787C>T	ENSP00000312158:p.Ser54Leu					BTN2A1_uc003nic.1_Missense_Mutation_p.S54L|BTN2A1_uc003nid.1_5'UTR|BTN2A1_uc011dko.1_5'UTR	p.S54L	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN			3	373	+			54			Extracellular (Potential).|Ig-like V-type.		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.161C>T	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323066	0.24080	.	.	ENSG00000112763	ENST00000312541;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T	0.67865	-0.29;-0.29;-0.29	3.01	2.11	0.27256	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.014740	0.07914	N	0.974786	T	0.43500	0.1250	M	0.66560	2.04	0.80722	D	1	B;B	0.24368	0.102;0.019	B;B	0.34346	0.18;0.034	T	0.48790	-0.9004	10	0.02654	T	1	.	8.5566	0.33485	0.0:0.8765:0.0:0.1235	.	54;54	Q96AV7;Q7KYR7	.;BT2A1_HUMAN	L	54	ENSP00000312158:S54L;ENSP00000416945:S54L;ENSP00000419043:S54L	ENSP00000265424:S54L	S	+	2	0	BTN2A1	26567766	0.170000	0.23016	0.753000	0.31225	0.529000	0.34654	0.450000	0.21762	0.815000	0.34398	0.561000	0.74099	TCA		0.532	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2		NM_007049		13	65	0	0	0	0.105934	0	13	65		
HIST1H2AG	8969	broad.mit.edu	37	6	27100942	27100942	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:27100942T>G	ENST00000359193.2	+	1	111	c.92T>G	c.(91-93)gTg>gGg	p.V31G	HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	31						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.V31G(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						GTGGGCCGAGTGCACCGCCTG	0.677																																						uc003niw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(91-93)GTG>GGG		histone cluster 1, H2ag							32.0	37.0	35.0					6																	27100942		2202	4300	6502	SO:0001583	missense	8969				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27100942T>G	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.92T>G	6.37:g.27100942T>G	ENSP00000352119:p.Val31Gly					HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	p.V31G	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN			1	126	+			31					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359193.2	37	c.92T>G	CCDS4619.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.623624	0.46840	.	.	ENSG00000196787	ENST00000359193	T	0.57107	0.42	4.08	4.08	0.47627	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.36234	N	0.002707	T	0.60025	0.2237	.	.	.	0.53005	D	0.999961	D	0.61080	0.989	P	0.61874	0.895	T	0.66779	-0.5837	9	0.87932	D	0	.	11.6705	0.51399	0.0:0.0:0.0:1.0	.	31	P0C0S8	H2A1_HUMAN	G	31	ENSP00000352119:V31G	ENSP00000352119:V31G	V	+	2	0	HIST1H2AG	27208921	1.000000	0.71417	0.456000	0.27044	0.451000	0.32288	7.139000	0.77314	1.801000	0.52704	0.533000	0.62120	GTG		0.677	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1		NM_021064		10	56	0	0	0	0.0333	0	10	56		
VARS2	57176	broad.mit.edu	37	6	30882669	30882669	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:30882669C>T	ENST00000321897.5	+	1	688	c.56C>T	c.(55-57)tCa>tTa	p.S19L	VARS2_ENST00000542001.1_Intron|VARS2_ENST00000541562.1_Missense_Mutation_p.S49L|VARS2_ENST00000416670.2_Missense_Mutation_p.S19L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	19					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.S19L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CTGAGGCACTCACGGGGCCTC	0.572																																						uc003nsc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)	4						c.(55-57)TCA>TTA		valyl-tRNA synthetase 2, mitochondrial							56.0	62.0	60.0					6																	30882669		1509	2708	4217	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30882669C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.56C>T	6.37:g.30882669C>T	ENSP00000316092:p.Ser19Leu					GTF2H4_uc003nsb.1_3'UTR|VARS2_uc003nsd.2_Missense_Mutation_p.S19L|VARS2_uc011dmx.1_Missense_Mutation_p.S19L|VARS2_uc011dmy.1_Intron|VARS2_uc011dmz.1_Missense_Mutation_p.S49L|VARS2_uc011dna.1_Missense_Mutation_p.S19L|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA	p.S19L	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN			1	688	+			19					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.56C>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401373	0.42613	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000428017;ENST00000413959;ENST00000541562;ENST00000421263	T;T;T;T;T	0.30448	3.54;3.54;1.54;3.52;1.53	4.95	2.04	0.26737	.	0.216172	0.29924	N	0.010860	T	0.09468	0.0233	L	0.51422	1.61	0.20638	N	0.999879	B;B;B	0.29646	0.164;0.253;0.012	B;B;B	0.21708	0.016;0.036;0.01	T	0.14144	-1.0483	10	0.59425	D	0.04	-3.1853	4.5992	0.12345	0.0:0.6223:0.1824:0.1953	.	19;49;19	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	L	19;19;19;19;49;19	ENSP00000316092:S19L;ENSP00000394802:S19L;ENSP00000403749:S19L;ENSP00000441000:S49L;ENSP00000416390:S19L	ENSP00000316092:S19L	S	+	2	0	VARS2	30990648	0.000000	0.05858	0.050000	0.19076	0.654000	0.38779	0.344000	0.19962	0.800000	0.34041	0.650000	0.86243	TCA		0.572	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2		NM_020442		55	101	0	0	0	0.048971	0	55	101		
RNF5	6048	broad.mit.edu	37	6	32147331	32147331	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:32147331C>T	ENST00000375094.3	+	2	312	c.154C>T	c.(154-156)Cat>Tat	p.H52Y	RNF5_ENST00000427134.2_Missense_Mutation_p.H52Y|AGPAT1_ENST00000395499.1_5'Flank|AGPAT1_ENST00000490711.1_5'Flank|AGPAT1_ENST00000375104.2_5'Flank|AGPAT1_ENST00000395497.1_5'Flank|AGPAT1_ENST00000336984.6_5'Flank|RNF5_ENST00000487940.1_3'UTR	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	52					cellular protein catabolic process (GO:0044257)|ER-associated misfolded protein catabolic process (GO:0071712)|negative regulation of autophagy (GO:0010507)|protein destabilization (GO:0031648)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of autophagic vacuole assembly (GO:2000785)|response to bacterium (GO:0009617)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H52Y(1)		endometrium(1)|lung(7)|urinary_tract(2)	10						GCCATGTCTTCATCAGGTGCG	0.473																																						uc003oaj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(154-156)CAT>TAT		ring finger protein 5							215.0	216.0	216.0					6																	32147331		2203	4300	6503	SO:0001583	missense	6048				ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:32147331C>T	U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308		"""RING-type (C3HC4) zinc fingers"""	10068	protein-coding gene	gene with protein product		602677	"""ring finger protein 5"""			9533025	Standard	NM_006913		Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.154C>T	6.37:g.32147331C>T	ENSP00000364235:p.His52Tyr					AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank	p.H52Y	NM_006913	NP_008844	Q99942	RNF5_HUMAN			2	281	+			52			RING-type.		A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	Missense_Mutation	SNP	ENST00000375094.3	37	c.154C>T	CCDS4745.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904226	0.52333	.	.	ENSG00000204308	ENST00000375094;ENST00000427134	D;D	0.83914	-1.78;-1.78	4.46	4.46	0.54185	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.064288	0.64402	D	0.000015	T	0.62454	0.2429	N	0.02202	-0.64	0.53688	D	0.999971	P	0.43701	0.815	P	0.50109	0.631	T	0.71616	-0.4539	10	0.33940	T	0.23	-5.932	14.657	0.68841	0.0:1.0:0.0:0.0	.	52	Q99942	RNF5_HUMAN	Y	52	ENSP00000364235:H52Y;ENSP00000407656:H52Y	ENSP00000364235:H52Y	H	+	1	0	RNF5	32255309	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.638000	0.67861	2.316000	0.78162	0.563000	0.77884	CAT		0.473	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076133.2		NM_006913		285	511	0	0	0	0.048971	0	285	511		
B3GALT4	8705	broad.mit.edu	37	6	33246064	33246064	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:33246064G>C	ENST00000451237.1	+	1	1148	c.868G>C	c.(868-870)Gag>Cag	p.E290Q		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	290					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.E290Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TCTCCCATTAGAGGATGTCTT	0.622																																						uc003odr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(868-870)GAG>CAG		UDP-Gal:betaGlcNAc beta							60.0	61.0	60.0					6																	33246064		2203	4300	6503	SO:0001583	missense	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33246064G>C	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.868G>C	6.37:g.33246064G>C	ENSP00000390784:p.Glu290Gln						p.E290Q	NM_003782	NP_003773	O96024	B3GT4_HUMAN			1	1148	+			290			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000451237.1	37	c.868G>C	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576040	0.65878	.	.	ENSG00000235863	ENST00000451237	T	0.59906	0.23	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000001	T	0.79263	0.4416	H	0.94620	3.56	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.84994	0.0896	10	0.72032	D	0.01	.	14.8597	0.70372	0.0:0.0:1.0:0.0	.	290	O96024	B3GT4_HUMAN	Q	290	ENSP00000390784:E290Q	ENSP00000390784:E290Q	E	+	1	0	B3GALT4	33354042	1.000000	0.71417	0.972000	0.41901	0.431000	0.31685	8.877000	0.92386	2.374000	0.81015	0.643000	0.83706	GAG		0.622	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2				27	156	0	0	0	0.108266	0	27	156		
DNAH8	1769	broad.mit.edu	37	6	38810631	38810631	+	Silent	SNP	T	T	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:38810631T>C	ENST00000359357.3	+	33	4400	c.4146T>C	c.(4144-4146)ctT>ctC	p.L1382L	DNAH8_ENST00000449981.2_Silent_p.L1599L|DNAH8_ENST00000441566.1_Silent_p.L1382L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1382					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1382L(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTTTTGCCTTAGAAATATCA	0.373																																						uc003ooe.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(4144-4146)CTT>CTC		dynein, axonemal, heavy polypeptide 8							119.0	109.0	112.0					6																	38810631		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38810631T>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4146T>C	6.37:g.38810631T>C							p.L1382L	NM_001371	NP_001362					33	4746	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.4146T>C																																																																																					0.373	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927		6	52	0	0	0	0.021553	0	6	52		
TBCC	6903	broad.mit.edu	37	6	42712930	42712930	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:42712930C>G	ENST00000372876.1	-	1	904	c.882G>C	c.(880-882)tgG>tgC	p.W294C	TBCC_ENST00000244625.2_Missense_Mutation_p.W294C	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	294	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)	p.W294C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CCGGGTAGCTCCAGGTGTAAG	0.537																																						uc003osl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(880-882)TGG>TGC		beta-tubulin cofactor C							101.0	91.0	95.0					6																	42712930		2203	4300	6503	SO:0001583	missense	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42712930C>G	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.882G>C	6.37:g.42712930C>G	ENSP00000361967:p.Trp294Cys						p.W294C	NM_003192	NP_003183	Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		1	955	-	Colorectal(47;0.196)		294			C-CAP/cofactor C-like.		Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	37	c.882G>C	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138987	0.77775	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	D;D	0.86497	-2.13;-2.13	5.14	5.14	0.70334	Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93393	0.7893	M	0.82517	2.595	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.93516	0.6857	10	0.59425	D	0.04	-9.8795	18.9802	0.92752	0.0:1.0:0.0:0.0	.	294	Q15814	TBCC_HUMAN	C	294	ENSP00000361967:W294C;ENSP00000244625:W294C	ENSP00000244625:W294C	W	-	3	0	TBCC	42820908	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.733000	0.84916	2.550000	0.86006	0.467000	0.42956	TGG		0.537	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1		NM_003192		48	126	0	0	0	0.048971	0	48	126		
TBCC	6903	broad.mit.edu	37	6	42713073	42713073	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:42713073C>G	ENST00000372876.1	-	1	761	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	TBCC_ENST00000244625.2_Missense_Mutation_p.E247Q	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	247	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)	p.E247Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CTGCAGTCCTCCAGGAAAACA	0.592																																						uc003osl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(739-741)GAG>CAG		beta-tubulin cofactor C							72.0	67.0	69.0					6																	42713073		2203	4300	6503	SO:0001583	missense	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713073C>G	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.739G>C	6.37:g.42713073C>G	ENSP00000361967:p.Glu247Gln						p.E247Q	NM_003192	NP_003183	Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		1	812	-	Colorectal(47;0.196)		247			C-CAP/cofactor C-like.		Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	37	c.739G>C	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465380	0.84425	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	D;D	0.87412	-2.25;-2.25	5.0	5.0	0.66597	CARP motif (1);Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.106407	0.64402	D	0.000010	D	0.90202	0.6937	M	0.80982	2.52	0.58432	D	0.999999	P	0.49358	0.923	P	0.52672	0.706	D	0.90036	0.4138	10	0.45353	T	0.12	-5.3992	18.6674	0.91495	0.0:1.0:0.0:0.0	.	247	Q15814	TBCC_HUMAN	Q	247	ENSP00000361967:E247Q;ENSP00000244625:E247Q	ENSP00000244625:E247Q	E	-	1	0	TBCC	42821051	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.694000	0.84235	2.463000	0.83235	0.467000	0.42956	GAG		0.592	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1		NM_003192		35	85	0	0	0	0.064281	0	35	85		
TBCC	6903	broad.mit.edu	37	6	42713214	42713214	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:42713214C>G	ENST00000372876.1	-	1	620	c.598G>C	c.(598-600)Gag>Cag	p.E200Q	TBCC_ENST00000244625.2_Missense_Mutation_p.E200Q	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	200	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)	p.E200Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			TGGTGCAACTCGCTGGCTCTC	0.602																																						uc003osl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(598-600)GAG>CAG		beta-tubulin cofactor C							38.0	38.0	38.0					6																	42713214		2203	4300	6503	SO:0001583	missense	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713214C>G	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.598G>C	6.37:g.42713214C>G	ENSP00000361967:p.Glu200Gln						p.E200Q	NM_003192	NP_003183	Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		1	671	-	Colorectal(47;0.196)		200			C-CAP/cofactor C-like.		Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	37	c.598G>C	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662476	0.88251	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	T;T	0.76578	-1.03;-1.03	5.1	5.1	0.69264	C-CAP/cofactor C-like domain (1);	0.053423	0.64402	D	0.000001	D	0.83055	0.5171	M	0.78456	2.415	0.80722	D	1	P	0.40909	0.732	P	0.51895	0.683	D	0.84597	0.0670	10	0.59425	D	0.04	-12.1131	18.8893	0.92392	0.0:1.0:0.0:0.0	.	200	Q15814	TBCC_HUMAN	Q	200	ENSP00000361967:E200Q;ENSP00000244625:E200Q	ENSP00000244625:E200Q	E	-	1	0	TBCC	42821192	1.000000	0.71417	0.939000	0.37840	0.893000	0.52053	5.746000	0.68681	2.515000	0.84797	0.467000	0.42956	GAG		0.602	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1		NM_003192		23	34	0	0	0	0.076483	0	23	34		
RCAN2	10231	broad.mit.edu	37	6	46214588	46214588	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:46214588G>C	ENST00000330430.6	-	3	518	c.330C>G	c.(328-330)ctC>ctG	p.L110L	RCAN2_ENST00000306764.7_Silent_p.L156L|RCAN2_ENST00000371374.1_Silent_p.L156L|RCAN2_ENST00000405162.1_Silent_p.L156L	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	110					calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)	p.L110L(1)|p.L156L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGGGCGAGATGAGAAACTGTT	0.522																																						uc003oyb.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(328-330)CTC>CTG		Down syndrome critical region gene 1-like 1							71.0	78.0	76.0					6																	46214588		1974	4146	6120	SO:0001819	synonymous_variant	10231				calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	g.chr6:46214588G>C	D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"""Down syndrome critical region gene 1-like 1"""	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000330430.6:c.330C>G	6.37:g.46214588G>C						RCAN2_uc003oyc.1_Silent_p.L156L|RCAN2_uc003oyd.1_Silent_p.L156L	p.L110L	NM_005822	NP_005813	Q14206	RCAN2_HUMAN			3	645	-			110					A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Silent	SNP	ENST00000330430.6	37	c.330C>G	CCDS43469.1																																																																																				0.522	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040782.1				5	23	0	0	0	0.021553	0	5	23		
CASP8AP2	9994	broad.mit.edu	37	6	90576496	90576496	+	RNA	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:90576496G>A	ENST00000551025.1	+	0	4924									caspase 8 associated protein 2									p.E1163K(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGATAGTGATGAAGGCAAACT	0.328																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(3487-3489)GAA>AAA		caspase 8 associated protein 2							17.0	16.0	17.0					6																	90576496		1818	4073	5891			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90576496G>A	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90576496G>A						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E1163K|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E1163K	p.E1163K	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	8	3683	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	1163						Missense_Mutation	SNP	ENST00000551025.1	37	c.3487G>A																																																																																					0.328	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript			NM_001137667		5	24	0	0	0	0.014758	0	5	24		
MICAL1	64780	broad.mit.edu	37	6	109766413	109766413	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:109766413C>G	ENST00000358807.3	-	22	3179	c.2868G>C	c.(2866-2868)ttG>ttC	p.L956F	MICAL1_ENST00000368952.4_Missense_Mutation_p.L975F|MICAL1_ENST00000358577.3_Missense_Mutation_p.L870F	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	956					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.L956F(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTGGCGCCTCAAGGCCAGCT	0.592																																						uc003ptj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|ovary(1)	3						c.(2866-2868)TTG>TTC		microtubule associated monoxygenase, calponin							60.0	58.0	59.0					6																	109766413		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109766413C>G	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2868G>C	6.37:g.109766413C>G	ENSP00000351664:p.Leu956Phe					MICAL1_uc003ptk.2_Missense_Mutation_p.L956F|MICAL1_uc010kdr.2_Missense_Mutation_p.L870F|MICAL1_uc011eaq.1_Missense_Mutation_p.L975F	p.L956F	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	21	3122	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	956			Potential.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.2868G>C	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145402	0.57044	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.57595	0.39;0.39;0.39	5.4	1.54	0.23209	Domain of unknown function DUF3585 (1);	0.426103	0.18814	N	0.130426	T	0.57110	0.2031	M	0.90198	3.095	0.34866	D	0.743114	D;D;P	0.67145	0.987;0.996;0.938	D;P;P	0.63597	0.916;0.898;0.688	T	0.56727	-0.7931	10	0.72032	D	0.01	.	2.0846	0.03643	0.1611:0.5098:0.156:0.1731	.	975;870;956	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	F	956;975;870;480;212	ENSP00000351664:L956F;ENSP00000357948:L975F;ENSP00000351385:L870F	ENSP00000335372:L212F	L	-	3	2	MICAL1	109873106	0.986000	0.35501	0.907000	0.35723	0.620000	0.37586	0.264000	0.18497	0.001000	0.14605	-0.182000	0.12963	TTG		0.592	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2		NM_022765		14	74	0	0	0	0.024245	0	14	74		
MICAL1	64780	broad.mit.edu	37	6	109766439	109766439	+	Missense_Mutation	SNP	C	C	T	rs147968137		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:109766439C>T	ENST00000358807.3	-	22	3153	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K	MICAL1_ENST00000368952.4_Missense_Mutation_p.E967K|MICAL1_ENST00000358577.3_Missense_Mutation_p.E862K	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	948					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.E948K(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TTCACGCCCTCGGCCTCTAGC	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19065	0.0		0.0	False		,,,				2504	0.0					uc003ptj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|ovary(1)	3						c.(2842-2844)GAG>AAG		microtubule associated monoxygenase, calponin		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	59.0	58.0	59.0		2584,2842	0.5	0.0	6	dbSNP_134	59	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	MICAL1	NM_001159291.1,NM_022765.3	56,56	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	benign,benign	862/982,948/1068	109766439	6,13000	2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109766439C>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2842G>A	6.37:g.109766439C>T	ENSP00000351664:p.Glu948Lys					MICAL1_uc003ptk.2_Missense_Mutation_p.E948K|MICAL1_uc010kdr.2_Missense_Mutation_p.E862K|MICAL1_uc011eaq.1_Missense_Mutation_p.E967K	p.E948K	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	21	3096	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	948			Potential.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.2842G>A	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	4.652	0.121257	0.08881	0.0	6.98E-4	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.41400	1.0;1.0;1.0	5.4	0.455	0.16649	Domain of unknown function DUF3585 (1);	0.535465	0.19356	N	0.116271	T	0.07279	0.0184	N	0.20401	0.57	0.19775	N	0.999955	B;B;B	0.16396	0.003;0.017;0.003	B;B;B	0.09377	0.002;0.004;0.002	T	0.36311	-0.9753	10	0.19590	T	0.45	.	4.2917	0.10881	0.0:0.4649:0.1622:0.3729	.	967;862;948	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	K	948;967;862;472;204	ENSP00000351664:E948K;ENSP00000357948:E967K;ENSP00000351385:E862K	ENSP00000335372:E204K	E	-	1	0	MICAL1	109873132	0.148000	0.22702	0.022000	0.16811	0.014000	0.08584	0.401000	0.20948	0.005000	0.14708	-0.140000	0.14226	GAG		0.567	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2		NM_022765		14	66	0	0	0	0.024245	0	14	66		
ROS1	6098	broad.mit.edu	37	6	117746802	117746802	+	Silent	SNP	A	A	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:117746802A>G	ENST00000368508.3	-	1	216	c.18T>C	c.(16-18)tgT>tgC	p.C6C	ROS1_ENST00000368507.3_Silent_p.C6C|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	6					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.C6C(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCGGAATAAGACAGTAAATGT	0.383			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NaN		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - coding silent(2)		urinary_tract(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(16-18)TGT>TGC		proto-oncogene c-ros-1 protein precursor							103.0	102.0	102.0					6																	117746802		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117746802A>G	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.18T>C	6.37:g.117746802A>G						ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.C6C	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	1	217	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	6					Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.18T>C	CCDS5116.1																																																																																				0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1				12	54	0	0	0	0.09319	0	12	54		
MAP3K5	4217	broad.mit.edu	37	6	137041602	137041602	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:137041602G>C	ENST00000359015.4	-	2	934	c.574C>G	c.(574-576)Ctg>Gtg	p.L192V		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	192					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.L192V(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGTGACTGCAGAGAGTCCGAG	0.443																																						uc003qhc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)|lung(1)	5						c.(574-576)CTG>GTG		mitogen-activated protein kinase kinase kinase							207.0	176.0	186.0					6																	137041602		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:137041602G>C	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.574C>G	6.37:g.137041602G>C	ENSP00000351908:p.Leu192Val					MAP3K5_uc011edk.1_Missense_Mutation_p.L37V|MAP3K5_uc010kgw.1_Missense_Mutation_p.L192V	p.L192V	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	2	935	-	Colorectal(23;0.24)		192					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.574C>G	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355951	0.61293	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.10099	2.91	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.18130	0.0435	L	0.49350	1.555	0.80722	D	1	P;D;D	0.89917	0.877;1.0;0.999	P;D;D	0.87578	0.627;0.998;0.994	T	0.01039	-1.1472	10	0.46703	T	0.11	.	15.327	0.74172	0.0663:0.0:0.9337:0.0	.	272;37;192	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	V	192;272	ENSP00000351908:L192V	ENSP00000351908:L192V	L	-	1	2	MAP3K5	137083295	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.761000	0.55242	1.620000	0.50308	0.655000	0.94253	CTG		0.443	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1				15	13	0	0	0	0.020292	0	15	13		
PLEKHG1	57480	broad.mit.edu	37	6	151152717	151152717	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:151152717C>G	ENST00000358517.2	+	15	2681	c.2470C>G	c.(2470-2472)Cat>Gat	p.H824D	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.H824D			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	824							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H824D(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GTCTATGCCTCATAAGCCTGT	0.458																																						uc003qny.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(2470-2472)CAT>GAT		pleckstrin homology domain containing, family G							128.0	130.0	130.0					6																	151152717		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151152717C>G	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2470C>G	6.37:g.151152717C>G	ENSP00000351318:p.His824Asp					PLEKHG1_uc011eel.1_Missense_Mutation_p.H864D|PLEKHG1_uc011eem.1_Missense_Mutation_p.H883D|PLEKHG1_uc003qnz.2_Missense_Mutation_p.H824D	p.H824D	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	2782	+			824					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.2470C>G	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.848822	0.00067	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.58652	0.32;0.32	5.45	3.63	0.41609	.	0.579014	0.19041	N	0.124290	T	0.09555	0.0235	N	0.01576	-0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28235	-1.0050	10	0.02654	T	1	.	14.4111	0.67115	0.0:0.593:0.407:0.0	.	631;824;824	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	D	824	ENSP00000356297:H824D;ENSP00000351318:H824D	ENSP00000351318:H824D	H	+	1	0	PLEKHG1	151194410	0.796000	0.28864	0.006000	0.13384	0.012000	0.07955	1.764000	0.38471	1.318000	0.45170	-0.182000	0.12963	CAT		0.458	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1				123	155	0	0	0	0.048971	0	123	155		
SYNE1	23345	broad.mit.edu	37	6	152583252	152583252	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:152583252C>T	ENST00000367255.5	-	101	19488	c.18887G>A	c.(18886-18888)aGa>aAa	p.R6296K	SYNE1_ENST00000356820.4_Missense_Mutation_p.R820K|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6225K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6296K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6225K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R5908K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6296					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R6296K(2)|p.R6225K(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCATTTCATTCTCATCTGGTC	0.378										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(18886-18888)AGA>AAA		spectrin repeat containing, nuclear envelope 1							160.0	147.0	152.0					6																	152583252		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152583252C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18887G>A	6.37:g.152583252C>T	ENSP00000356224:p.Arg6296Lys	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.R820K|SYNE1_uc003qos.3_Missense_Mutation_p.R820K|SYNE1_uc003qot.3_Missense_Mutation_p.R6225K|SYNE1_uc003qou.3_Missense_Mutation_p.R6296K	p.R6296K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	101	19489	-		Ovarian(120;0.0955)	6296			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.18887G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443463	0.25987	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.55760	0.59;0.58;0.5;0.58;0.72;2.61	5.96	5.96	0.96718	.	0.092392	0.43747	D	0.000538	T	0.23611	0.0571	L	0.28458	0.855	0.38124	D	0.937968	B;B;B	0.28933	0.088;0.088;0.228	B;B;B	0.27262	0.036;0.036;0.078	T	0.07481	-1.0770	10	0.22109	T	0.4	.	11.3309	0.49475	0.0:0.8918:0.0:0.1082	.	6296;6296;6225	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	K	6296;6225;6296;6225;5908;820	ENSP00000356224:R6296K;ENSP00000396024:R6225K;ENSP00000265368:R6296K;ENSP00000390975:R6225K;ENSP00000341887:R5908K;ENSP00000349276:R820K	ENSP00000265368:R6296K	R	-	2	0	SYNE1	152624945	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	3.677000	0.54619	2.831000	0.97527	0.650000	0.86243	AGA		0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		23	61	0	0	0	0.076483	0	23	61		
IQCE	23288	broad.mit.edu	37	7	2632715	2632715	+	Missense_Mutation	SNP	C	C	T	rs201827624		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:2632715C>T	ENST00000402050.2	+	15	1488	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V	IQCE_ENST00000404984.1_Missense_Mutation_p.A384V|IQCE_ENST00000325979.7_Missense_Mutation_p.A370V|IQCE_ENST00000438376.2_Missense_Mutation_p.A419V	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	435						mitochondrion (GO:0005739)		p.A435V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		ctggagtgcgcgagggagggc	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19522	0.0		0.0	False		,,,				2504	0.0					uc003smo.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1303-1305)GCG>GTG		IQ motif containing E isoform 1		C	VAL/ALA,VAL/ALA	1,4257		0,1,2128	109.0	139.0	129.0		1304,1256	-1.3	0.0	7		129	0,8466		0,0,4233	no	missense,missense	IQCE	NM_152558.3,NM_001100390.1	64,64	0,1,6361	TT,TC,CC		0.0,0.0235,0.0079	benign,benign	435/696,419/680	2632715	1,12723	2129	4233	6362	SO:0001583	missense	23288							g.chr7:2632715C>T	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1304C>T	7.37:g.2632715C>T	ENSP00000385597:p.Ala435Val					IQCE_uc010ksm.1_Missense_Mutation_p.A435V|IQCE_uc003sml.1_Missense_Mutation_p.A435V|IQCE_uc011jvy.1_Missense_Mutation_p.A419V|IQCE_uc011jvz.1_Missense_Mutation_p.A370V|IQCE_uc003smk.3_Missense_Mutation_p.A419V|IQCE_uc003smn.3_Missense_Mutation_p.A370V	p.A435V	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	15	1488	+		Ovarian(82;0.0112)	435			Potential.		Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	c.1304C>T	CCDS43542.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.901	-0.722153	0.03182	2.35E-4	0.0	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.03	-1.28	0.09318	.	1.070770	0.07140	N	0.847094	T	0.17831	0.0428	N	0.12746	0.255	0.09310	N	1	B;B;B;B;B;B	0.31351	0.177;0.32;0.055;0.07;0.32;0.093	B;B;B;B;B;B	0.17433	0.013;0.018;0.005;0.007;0.018;0.011	T	0.15896	-1.0421	10	0.15066	T	0.55	-4.1543	4.6917	0.12785	0.1701:0.1705:0.0:0.6595	.	370;419;370;435;435;419	B4DXN1;B4DDX4;Q6IPM2-2;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;.;IQCE_HUMAN;.;.	V	435;384;419;370	ENSP00000385597:A435V;ENSP00000385945:A384V;ENSP00000396178:A419V;ENSP00000313772:A370V	ENSP00000313772:A370V	A	+	2	0	IQCE	2599241	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.021000	0.12504	-0.084000	0.12595	-0.258000	0.10820	GCG		0.602	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2		NM_152558		34	159	0	0	0	0.050027	0	34	159		
RNF216	54476	broad.mit.edu	37	7	5781044	5781044	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:5781044C>T	ENST00000425013.2	-	4	657	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	RNF216_ENST00000389902.3_Missense_Mutation_p.E202K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	145					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E202K(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TCTGAGTCTTCGGATGACTGG	0.453																																						uc003soy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(2)	5						c.(433-435)GAA>AAA		ring finger protein 216 isoform b							192.0	193.0	193.0					7																	5781044		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5781044C>T	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.433G>A	7.37:g.5781044C>T	ENSP00000404602:p.Glu145Lys					RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.E202K	p.E145K	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	4	623	-		Ovarian(82;0.07)	145					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.433G>A	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103799	0.76983	.	.	ENSG00000011275	ENST00000425013;ENST00000389902	T;T	0.52526	0.79;0.66	5.97	5.09	0.68999	.	0.166261	0.42821	D	0.000653	T	0.41143	0.1146	L	0.59436	1.845	0.36005	D	0.837683	P;P	0.45240	0.789;0.854	B;B	0.37015	0.128;0.239	T	0.54105	-0.8343	10	0.39692	T	0.17	-14.2779	11.98	0.53115	0.0:0.9213:0.0:0.0787	.	145;202	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	K	145;202	ENSP00000404602:E145K;ENSP00000374552:E202K	ENSP00000374550:E145K	E	-	1	0	RNF216	5747570	0.964000	0.33143	1.000000	0.80357	0.972000	0.66771	2.137000	0.42130	2.838000	0.97847	0.561000	0.74099	GAA		0.453	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1		NM_207111		76	373	0	0	0	0.048971	0	76	373		
DAGLB	221955	broad.mit.edu	37	7	6476128	6476128	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:6476128G>C	ENST00000297056.6	-	3	453	c.284C>G	c.(283-285)tCt>tGt	p.S95C	DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000436575.1_Missense_Mutation_p.S54C|DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000425398.2_Missense_Mutation_p.S95C	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	95					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.S95C(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AAGCAGCTTAGACATAGACTT	0.517																																						uc003sqa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(283-285)TCT>TGT		diacylglycerol lipase, beta isoform 1							83.0	89.0	87.0					7																	6476128		2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6476128G>C	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.284C>G	7.37:g.6476128G>C	ENSP00000297056:p.Ser95Cys					DAGLB_uc011jwt.1_5'Flank|DAGLB_uc011jwu.1_Missense_Mutation_p.S95C|DAGLB_uc003sqb.2_Intron|DAGLB_uc003sqc.2_Intron|DAGLB_uc011jwv.1_Intron|DAGLB_uc003sqd.3_Missense_Mutation_p.S54C|DAGLB_uc011jww.1_Intron	p.S95C	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	3	454	-		Ovarian(82;0.232)	95			Cytoplasmic (Potential).		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.284C>G	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957487	0.92726	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575;ENST00000471132;ENST00000432248	T;T;T	0.46063	0.88;0.89;0.88	5.87	5.87	0.94306	.	0.377447	0.30036	N	0.010580	T	0.49660	0.1570	L	0.54323	1.7	0.80722	D	1	D;D	0.59357	0.985;0.966	P;B	0.46975	0.533;0.438	T	0.49184	-0.8966	10	0.59425	D	0.04	-5.3364	20.5827	0.99408	0.0:0.0:1.0:0.0	.	95;95	B4DQU0;Q8NCG7	.;DGLB_HUMAN	C	95;95;54;95;95	ENSP00000297056:S95C;ENSP00000391171:S95C;ENSP00000404785:S54C	ENSP00000297056:S95C	S	-	2	0	DAGLB	6442653	1.000000	0.71417	0.764000	0.31436	0.971000	0.66376	9.065000	0.93941	2.941000	0.99782	0.655000	0.94253	TCT		0.517	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2		NM_139179		104	90	0	0	0	0.048971	0	104	90		
ITGB8	3696	broad.mit.edu	37	7	20438615	20438615	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:20438615G>A	ENST00000222573.4	+	9	1963	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	ITGB8_ENST00000537992.1_Missense_Mutation_p.E292K	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	427					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)	p.E427K(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GAGCAATGATGAAGTATGTGG	0.388																																						uc003suu.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(3)	3						c.(1279-1281)GAA>AAA		integrin, beta 8 precursor							91.0	79.0	83.0					7																	20438615		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20438615G>A		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1279G>A	7.37:g.20438615G>A	ENSP00000222573:p.Glu427Lys					ITGB8_uc011jyh.1_Missense_Mutation_p.E292K|ITGB8_uc003sut.2_Missense_Mutation_p.E427K	p.E427K	NM_002214	NP_002205	P26012	ITB8_HUMAN			9	1984	+			427			Extracellular (Potential).		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.1279G>A	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497410	0.44455	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.92752	-3.1;-3.1	5.72	5.72	0.89469	Integrin beta subunit, N-terminal (2);	0.074123	0.56097	D	0.000030	D	0.86293	0.5898	L	0.31065	0.9	0.44595	D	0.997569	B;B	0.33171	0.008;0.4	B;B	0.34873	0.018;0.191	T	0.82671	-0.0342	10	0.14656	T	0.56	.	13.1368	0.59413	0.0729:0.0:0.9271:0.0	.	427;427	P26012;Q9BUG9	ITB8_HUMAN;.	K	292;427	ENSP00000441561:E292K;ENSP00000222573:E427K	ENSP00000222573:E427K	E	+	1	0	ITGB8	20405140	1.000000	0.71417	0.995000	0.50966	0.405000	0.30901	3.934000	0.56553	2.711000	0.92665	0.655000	0.94253	GAA		0.388	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3		NM_002214		11	27	0	0	0	0.069234	0	11	27		
KLHL7	55975	broad.mit.edu	37	7	23180423	23180423	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:23180423G>A	ENST00000339077.5	+	5	721	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.E84K|KLHL7_ENST00000409689.1_Missense_Mutation_p.E112K|KLHL7_ENST00000322231.7_Missense_Mutation_p.E138K|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000545443.1_Missense_Mutation_p.E138K	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	160	BACK.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.E138K(1)|p.E160K(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGATTGTCCTGAATTGAAAGC	0.328																																						uc003svs.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(478-480)GAA>AAA		kelch-like 7 isoform 1							97.0	95.0	95.0					7																	23180423		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23180423G>A		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.478G>A	7.37:g.23180423G>A	ENSP00000343273:p.Glu160Lys					KLHL7_uc003svr.3_Missense_Mutation_p.E138K|KLHL7_uc011jys.1_Missense_Mutation_p.E84K|KLHL7_uc011jyt.1_5'UTR|KLHL7_uc003svt.2_Missense_Mutation_p.E112K|KLHL7_uc011jyv.1_5'UTR	p.E160K	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN			5	771	+			160					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.478G>A	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361221	0.95877	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	5.35	5.35	0.76521	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	L	0.50993	1.605	0.80722	D	1	B;B	0.29909	0.261;0.22	B;B	0.30316	0.114;0.07	T	0.59958	-0.7356	10	0.30078	T	0.28	.	19.439	0.94809	0.0:0.0:1.0:0.0	.	160;138	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	K	138;160;84;112;138	ENSP00000322958:E138K;ENSP00000343273:E160K;ENSP00000441136:E84K;ENSP00000386263:E112K;ENSP00000442366:E138K	ENSP00000322958:E138K	E	+	1	0	KLHL7	23146948	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.143000	0.94623	2.662000	0.90505	0.563000	0.77884	GAA		0.328	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3		NM_018846		67	57	0	0	0	0.048971	0	67	57		
BMPER	168667	broad.mit.edu	37	7	34192756	34192756	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:34192756C>G	ENST00000297161.2	+	16	2303	c.1929C>G	c.(1927-1929)atC>atG	p.I643M	BMPER_ENST00000426693.1_Missense_Mutation_p.I643M	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	643	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.I643M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CGGGATGTATCAAGACGTGTG	0.507																																						uc011kap.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1927-1929)ATC>ATG		BMP-binding endothelial regulator precursor							229.0	196.0	207.0					7																	34192756		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34192756C>G		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1929C>G	7.37:g.34192756C>G	ENSP00000297161:p.Ile643Met						p.I643M	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			15	2043	+			643			TIL.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1929C>G	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574860	0.28092	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	D;D	0.90563	-2.69;-2.69	5.92	2.88	0.33553	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.695254	0.15397	N	0.264488	D	0.84593	0.5506	N	0.16656	0.425	0.24512	N	0.994206	B	0.20164	0.042	B	0.26094	0.066	T	0.71241	-0.4651	10	0.33940	T	0.23	.	17.4883	0.87694	0.0:0.5231:0.4769:0.0	.	643	Q8N8U9	BMPER_HUMAN	M	643	ENSP00000297161:I643M;ENSP00000393950:I643M	ENSP00000297161:I643M	I	+	3	3	BMPER	34159281	0.999000	0.42202	0.997000	0.53966	0.729000	0.41735	0.666000	0.25097	0.783000	0.33636	0.467000	0.42956	ATC		0.507	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2		NM_133468		55	83	0	0	0	0.048971	0	55	83		
CDK13	8621	broad.mit.edu	37	7	40134032	40134032	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:40134032C>G	ENST00000181839.4	+	14	4597	c.3992C>G	c.(3991-3993)tCc>tGc	p.S1331C	CDK13_ENST00000340829.5_Missense_Mutation_p.S1271C	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1331					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.S1331C(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ACTTACGTGTCCACTTCAGAC	0.483																																						uc003thh.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|skin(2)|ovary(1)	5						c.(3991-3993)TCC>TGC		cell division cycle 2-like 5 isoform 1							174.0	168.0	170.0					7																	40134032		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40134032C>G	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3992C>G	7.37:g.40134032C>G	ENSP00000181839:p.Ser1331Cys					CDK13_uc003thi.3_Missense_Mutation_p.S1271C|CDK13_uc003thj.2_Missense_Mutation_p.S382C|CDK13_uc003thk.2_Missense_Mutation_p.S264C	p.S1331C	NM_003718	NP_003709	Q14004	CDK13_HUMAN			14	4274	+			1331					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.3992C>G	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159034	0.38119	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.70516	-0.44;-0.49	5.54	5.54	0.83059	.	.	.	.	.	T	0.57272	0.2042	N	0.08118	0	0.09310	N	1	P;P	0.37276	0.589;0.454	B;B	0.42555	0.391;0.156	T	0.51301	-0.8723	8	.	.	.	-1.1123	15.0179	0.71600	0.0:0.8581:0.1419:0.0	.	1271;1331	Q14004-2;Q14004	.;CDK13_HUMAN	C	1331;1271	ENSP00000181839:S1331C;ENSP00000340557:S1271C	.	S	+	2	0	CDK13	40100557	0.030000	0.19436	0.217000	0.23759	0.910000	0.53928	2.691000	0.47010	2.603000	0.88011	0.655000	0.94253	TCC		0.483	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2		NM_003718		73	52	0	0	0	0.048971	0	73	52		
HECW1	23072	broad.mit.edu	37	7	43484701	43484701	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:43484701G>A	ENST00000395891.2	+	11	2535	c.1930G>A	c.(1930-1932)Gcg>Acg	p.A644T	HECW1_ENST00000453890.1_Missense_Mutation_p.A644T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	644					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A623T(1)|p.A644T(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGCCAATGGCGCGGCCCAGGA	0.711																																						uc003tid.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1930-1932)GCG>ACG		NEDD4-like ubiquitin-protein ligase 1							12.0	17.0	15.0					7																	43484701		2081	4182	6263	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484701G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1930G>A	7.37:g.43484701G>A	ENSP00000379228:p.Ala644Thr					HECW1_uc011kbi.1_Missense_Mutation_p.A644T	p.A644T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2535	+			644					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1930G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	0.515	-0.864943	0.02590	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.29655	1.56;1.56	4.41	-3.61	0.04556	.	.	.	.	.	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.25847	-1.0120	9	0.23891	T	0.37	.	0.8549	0.01180	0.269:0.353:0.1278:0.2502	.	644;644	B4DH42;Q76N89	.;HECW1_HUMAN	T	644	ENSP00000379228:A644T;ENSP00000407774:A644T	ENSP00000265522:A644T	A	+	1	0	HECW1	43451226	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.852000	0.04308	-0.706000	0.05028	-0.251000	0.11542	GCG		0.711	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2		NM_015052		10	13	0	0	0	0.105934	0	10	13		
PPIA	5478	broad.mit.edu	37	7	44839364	44839364	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:44839364G>A	ENST00000468812.1	+	4	298	c.253G>A	c.(253-255)Gat>Aat	p.D85N	PPIA_ENST00000355968.6_Missense_Mutation_p.D25N|PPIA_ENST00000451562.1_Missense_Mutation_p.D85N|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000489459.1_Missense_Mutation_p.D25N	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	85	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				blood coagulation (GO:0007596)|entry into host cell (GO:0030260)|establishment of integrated proviral latency (GO:0075713)|leukocyte migration (GO:0050900)|lipid particle organization (GO:0034389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of viral genome replication (GO:0045069)|RNA-dependent DNA replication (GO:0006278)|uncoating of virus (GO:0019061)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral release from host cell (GO:0019076)|virion assembly (GO:0019068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)	p.D85N(1)		breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	GAAATTTGAAGATGAGAACTT	0.458																																					Pancreas(95;605 727 734 1731 12572 23104 24406 38694 39103 44805)	uc003tlw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(253-255)GAT>AAT		peptidylprolyl isomerase A	Cyclosporine(DB00091)|L-Proline(DB00172)						119.0	114.0	116.0					7																	44839364		2203	4298	6501	SO:0001583	missense	5478				entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding	g.chr7:44839364G>A	X52851	CCDS5494.1, CCDS75592.1	7p13	2010-03-23			ENSG00000196262	ENSG00000196262	5.2.1.8		9253	protein-coding gene	gene with protein product		123840				1989998, 2197089	Standard	XM_005249791		Approved	CYPA	uc003tlw.3	P62937	OTTHUMG00000023687	ENST00000468812.1:c.253G>A	7.37:g.44839364G>A	ENSP00000419425:p.Asp85Asn					PPIA_uc003tlx.2_RNA|PPIA_uc010kyl.2_RNA	p.D85N	NM_021130	NP_066953	P62937	PPIA_HUMAN			4	336	+			85			PPIase cyclophilin-type.		A8K220|P05092|Q3KQW3|Q567Q0|Q6IBU5|Q96IX3|Q9BRU4|Q9BTY9|Q9UC61	Missense_Mutation	SNP	ENST00000468812.1	37	c.253G>A	CCDS5494.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801188	0.90538	.	.	ENSG00000196262	ENST00000451562;ENST00000468812;ENST00000489459;ENST00000355968;ENST00000244636	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.24	5.24	0.73138	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	U	0.000000	T	0.67277	0.2876	M	0.87180	2.865	0.53688	D	0.999977	P	0.39424	0.673	P	0.48873	0.593	T	0.73219	-0.4052	10	0.72032	D	0.01	.	18.4613	0.90739	0.0:0.0:1.0:0.0	.	85	P62937	PPIA_HUMAN	N	85;85;25;25;25	ENSP00000405975:D85N;ENSP00000419425:D85N;ENSP00000427976:D25N;ENSP00000430817:D25N	ENSP00000442606:D25N	D	+	1	0	PPIA	44805889	1.000000	0.71417	0.949000	0.38748	0.965000	0.64279	7.791000	0.85805	2.449000	0.82847	0.563000	0.77884	GAT		0.458	PPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251293.1		NM_021130		9	252	0	0	0	0.024245	0	9	252		
NSUN5	55695	broad.mit.edu	37	7	72721626	72721626	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:72721626C>T	ENST00000252594.6	-	3	360	c.345G>A	c.(343-345)gtG>gtA	p.V115V	NSUN5_ENST00000428206.1_Silent_p.V77V|NSUN5_ENST00000438747.2_Silent_p.V115V|NSUN5_ENST00000310326.8_Silent_p.V115V			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	115					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.V115V(2)		breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CATTCCGGCTCACACCCCGAT	0.642																																						uc003txw.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(343-345)GTG>GTA		NOL1/NOP2/Sun domain family, member 5 isoform 2							65.0	53.0	57.0					7																	72721626		2203	4300	6503	SO:0001819	synonymous_variant	55695						methyltransferase activity	g.chr7:72721626C>T	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.345G>A	7.37:g.72721626C>T						FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Silent_p.V115V|NSUN5_uc003txx.2_Silent_p.V77V|NSUN5_uc011kev.1_Silent_p.V115V	p.V115V	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN			3	381	-		Lung NSC(55;0.163)	115					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	ENST00000252594.6	37	c.345G>A	CCDS5547.1																																																																																				0.642	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1		NM_148956		10	29	0	0	0	0.069234	0	10	29		
POM121C	100101267	broad.mit.edu	37	7	75048154	75048154	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:75048154G>C	ENST00000257665.5	-	13	3614	c.3615C>G	c.(3613-3615)tcC>tcG	p.S1205S	NSUN5P1_ENST00000393633.2_RNA|POM121C_ENST00000453279.2_Silent_p.S963S			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1205	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)		p.S963S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CCGCACCAATGGAAAATGAAG	0.592																																						uc003udk.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(2887-2889)TCC>TCG		POM121 membrane glycoprotein (rat)-like							36.0	39.0	38.0					7																	75048154		2202	4297	6499	SO:0001819	synonymous_variant	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75048154G>C		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3615C>G	7.37:g.75048154G>C							p.S963S	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN			15	3774	-			1205			Pore side (Potential).		O75115|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000257665.5	37	c.2889C>G																																																																																					0.592	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2		NM_001099415		6	26	0	0	0	0.047766	0	6	26		
HGF	3082	broad.mit.edu	37	7	81388061	81388061	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:81388061G>C	ENST00000222390.5	-	3	540	c.314C>G	c.(313-315)tCa>tGa	p.S105*	HGF_ENST00000453411.1_Nonsense_Mutation_p.S105*|HGF_ENST00000444829.2_Nonsense_Mutation_p.S105*|HGF_ENST00000423064.2_Nonsense_Mutation_p.S105*|HGF_ENST00000453018.1_Nonsense_Mutation_p.S2*|HGF_ENST00000457544.2_Nonsense_Mutation_p.S105*|HGF_ENST00000354224.6_Nonsense_Mutation_p.S105*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	105	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.S105*(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CACTCCACTTGACATGCTATT	0.318																																						uc003uhl.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)	4						c.(313-315)TCA>TGA		hepatocyte growth factor isoform 1							107.0	106.0	106.0					7																	81388061		2203	4299	6502	SO:0001587	stop_gained	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81388061G>C		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.314C>G	7.37:g.81388061G>C	ENSP00000222390:p.Ser105*					HGF_uc003uhm.2_Nonsense_Mutation_p.S105*|HGF_uc003uhn.1_Nonsense_Mutation_p.S105*|HGF_uc003uho.1_Nonsense_Mutation_p.S105*|HGF_uc003uhp.2_Nonsense_Mutation_p.S105*	p.S105*	NM_000601	NP_000592	P14210	HGF_HUMAN			3	479	-			105			PAN.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Nonsense_Mutation	SNP	ENST00000222390.5	37	c.314C>G	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	37	6.115818	0.97296	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000453018;ENST00000412881;ENST00000421558	.	.	.	5.33	5.33	0.75918	.	0.346678	0.31257	N	0.007979	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.3808	0.74654	0.0:0.1396:0.8604:0.0	.	.	.	.	X	105;105;105;105;105;105;105;2;105;105	.	ENSP00000222390:S105X	S	-	2	0	HGF	81225997	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.745000	0.68672	2.491000	0.84063	0.591000	0.81541	TCA		0.318	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2		NM_000601		11	54	0	0	0	0.080935	0	11	54		
AKAP9	10142	broad.mit.edu	37	7	91603155	91603155	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:91603155C>T	ENST00000359028.2	+	3	440	c.215C>T	c.(214-216)tCa>tTa	p.S72L	AKAP9_ENST00000394564.1_Missense_Mutation_p.S60L|AKAP9_ENST00000356239.3_Missense_Mutation_p.S60L|AKAP9_ENST00000358100.2_Missense_Mutation_p.S72L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	72					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.S72L(1)|p.S60L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTGATCAATCACAGTGTAAT	0.363			T	BRAF	papillary thyroid																																	uc003ulg.2		NaN		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)		urinary_tract(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(178-180)TCA>TTA		A-kinase anchor protein 9 isoform 2							83.0	83.0	83.0					7																	91603155		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91603155C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.215C>T	7.37:g.91603155C>T	ENSP00000351922:p.Ser72Leu					AKAP9_uc003uld.3_Missense_Mutation_p.S60L|AKAP9_uc003ule.2_Missense_Mutation_p.S72L|AKAP9_uc003ulf.2_Missense_Mutation_p.S60L	p.S60L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		2	404	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		72					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.179C>T		.	.	.	.	.	.	.	.	.	.	C	8.404	0.842636	0.16963	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114	T;T;T;T;T	0.64618	2.57;2.57;2.57;-0.11;-0.11	3.77	3.77	0.43336	.	1.437920	0.05190	N	0.502964	T	0.50565	0.1623	N	0.21448	0.665	0.29849	N	0.82856	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.09377	0.001;0.001;0.004;0.002	T	0.40459	-0.9562	10	0.46703	T	0.11	.	9.1988	0.37244	0.0:0.8977:0.0:0.1023	.	60;60;72;60	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	L	60;72;72;72;72;60;29	ENSP00000348573:S60L;ENSP00000351922:S72L;ENSP00000350813:S72L;ENSP00000378065:S60L;ENSP00000391704:S29L	ENSP00000348573:S60L	S	+	2	0	AKAP9	91441091	0.128000	0.22383	0.290000	0.24890	0.722000	0.41435	0.993000	0.29680	2.087000	0.62958	0.637000	0.83480	TCA		0.363	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751		21	35	0	0	0	0.062417	0	21	35		
TFPI2	7980	broad.mit.edu	37	7	93516176	93516176	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:93516176G>A	ENST00000222543.5	-	5	976	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	TFPI2_ENST00000545378.1_Missense_Mutation_p.R111C|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	222					blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R222C(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTGGCAAAGCGAAGCTTTGGC	0.328																																						uc003umy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(664-666)CGC>TGC		tissue factor pathway inhibitor 2 precursor							102.0	113.0	109.0					7																	93516176		2202	4300	6502	SO:0001583	missense	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93516176G>A	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.664C>T	7.37:g.93516176G>A	ENSP00000222543:p.Arg222Cys					GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R211C|TFPI2_uc003unb.1_Missense_Mutation_p.R228C|TFPI2_uc010lfg.1_Missense_Mutation_p.R98C	p.R222C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		5	739	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		222					Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	ENST00000222543.5	37	c.664C>T	CCDS5632.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007578	0.54361	.	.	ENSG00000105825	ENST00000222543;ENST00000545378	T;T	0.56103	0.61;0.48	5.17	-6.66	0.01789	.	1.585590	0.04260	N	0.340258	T	0.35364	0.0929	L	0.39898	1.24	0.09310	N	1	D;D;D	0.54207	0.965;0.965;0.965	B;B;B	0.38156	0.197;0.266;0.266	T	0.50617	-0.8807	10	0.56958	D	0.05	.	5.3533	0.16047	0.473:0.0:0.1766:0.3505	.	154;211;222	Q8NE89;Q8NAK6;P48307	.;.;TFPI2_HUMAN	C	222;111	ENSP00000222543:R222C;ENSP00000438861:R111C	ENSP00000222543:R222C	R	-	1	0	TFPI2	93354112	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.834000	0.04391	-1.038000	0.03279	0.655000	0.94253	CGC		0.328	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2		NM_006528		33	85	0	0	0	0.050027	0	33	85		
ACN9	57001	broad.mit.edu	37	7	96747140	96747140	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:96747140G>A	ENST00000360382.4	+	1	106	c.105G>A	c.(103-105)gtG>gtA	p.V35V	ACN9_ENST00000432641.2_Silent_p.V35V					ACN9 homolog (S. cerevisiae)									p.V35V(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					ACCAGTACGTGAAAGACGAAT	0.567																																						uc003uoo.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(103-105)GTG>GTA		ACN9 homolog precursor							118.0	104.0	109.0					7																	96747140		2203	4300	6503	SO:0001819	synonymous_variant	57001				regulation of gluconeogenesis	mitochondrial intermembrane space		g.chr7:96747140G>A	BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000360382.4:c.105G>A	7.37:g.96747140G>A							p.V35V	NM_020186	NP_064571	Q9NRP4	ACN9_HUMAN			1	1236	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)		35						Silent	SNP	ENST00000360382.4	37	c.105G>A																																																																																					0.567	ACN9-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333686.3		NM_020186		20	55	0	0	0	0.043863	0	20	55		
TAF6	6878	broad.mit.edu	37	7	99710524	99710524	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:99710524C>T	ENST00000344095.4	-	6	996	c.471G>A	c.(469-471)caG>caA	p.Q157Q	TAF6_ENST00000418432.2_Silent_p.Q81Q|TAF6_ENST00000472509.1_Silent_p.Q214Q|TAF6_ENST00000437822.2_Silent_p.Q194Q|TAF6_ENST00000453269.2_Silent_p.Q157Q|TAF6_ENST00000452041.1_Silent_p.Q157Q|TAF6_ENST00000497233.1_5'Flank|RP11-506M12.1_ENST00000494221.1_RNA	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	157					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q157Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTCAGCCTTCTGTTGCTCTT	0.602																																						uc003uti.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(469-471)CAG>CAA		TBP-associated factor 6 isoform alpha							155.0	159.0	158.0					7																	99710524		2203	4300	6503	SO:0001819	synonymous_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99710524C>T		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.471G>A	7.37:g.99710524C>T						TAF6_uc003utg.2_Silent_p.Q79Q|TAF6_uc003uth.2_Silent_p.Q214Q|TAF6_uc003utk.2_Silent_p.Q157Q|TAF6_uc011kji.1_Silent_p.Q194Q|TAF6_uc003utj.2_Silent_p.Q147Q|TAF6_uc003utl.2_Silent_p.Q157Q|TAF6_uc003utm.2_Silent_p.Q157Q|TAF6_uc003utn.1_RNA	p.Q157Q	NM_139315	NP_647476	P49848	TAF6_HUMAN			6	552	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		157					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	37	c.471G>A	CCDS5686.1																																																																																				0.602	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2		NM_005641		93	227	0	0	0	0.048971	0	93	227		
RELN	5649	broad.mit.edu	37	7	103183210	103183210	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:103183210C>G	ENST00000428762.1	-	43	6798	c.6639G>C	c.(6637-6639)ttG>ttC	p.L2213F	RELN_ENST00000343529.5_Missense_Mutation_p.L2213F|RELN_ENST00000424685.2_Missense_Mutation_p.L2213F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2213					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.L2213F(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCGTGTCATCAACATGCGCA	0.363																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(6637-6639)TTG>TTC		reelin isoform a							121.0	113.0	116.0					7																	103183210		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103183210C>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6639G>C	7.37:g.103183210C>G	ENSP00000392423:p.Leu2213Phe					RELN_uc010liz.2_Missense_Mutation_p.L2213F	p.L2213F	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	43	6799	-			2213					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6639G>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477447	0.63849	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.34859	1.34;1.34;1.34	5.93	3.11	0.35812	Neuraminidase (1);	0.079660	0.52532	D	0.000074	T	0.56470	0.1987	M	0.73217	2.22	0.48135	D	0.999593	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.994	T	0.60084	-0.7332	10	0.87932	D	0	.	12.0417	0.53456	0.0:0.8077:0.0:0.1923	.	2213;2213	P78509-2;P78509	.;RELN_HUMAN	F	2213	ENSP00000392423:L2213F;ENSP00000345694:L2213F;ENSP00000388446:L2213F	ENSP00000345694:L2213F	L	-	3	2	RELN	102970446	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.764000	0.47613	0.831000	0.34780	0.591000	0.81541	TTG		0.363	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		NM_005045		22	70	0	0	0	0.083992	0	22	70		
NUP205	23165	broad.mit.edu	37	7	135261759	135261759	+	Silent	SNP	G	G	C	rs551812544		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:135261759G>C	ENST00000285968.6	+	5	557	c.531G>C	c.(529-531)ctG>ctC	p.L177L	NUP205_ENST00000440390.2_5'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	177					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.L177L(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CAGATGAGCTGATGGAGCAAG	0.388																																						uc003vsw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(529-531)CTG>CTC		nucleoporin 205kDa							122.0	116.0	118.0					7																	135261759		2203	4300	6503	SO:0001819	synonymous_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135261759G>C	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.531G>C	7.37:g.135261759G>C						NUP205_uc011kqa.1_RNA	p.L177L	NM_015135	NP_055950	Q92621	NU205_HUMAN			5	562	+			177					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.531G>C	CCDS34759.1																																																																																				0.388	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1				12	23	0	0	0	0.09319	0	12	23		
NUP205	23165	broad.mit.edu	37	7	135263632	135263632	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:135263632G>A	ENST00000285968.6	+	7	1037	c.1011G>A	c.(1009-1011)ttG>ttA	p.L337L	NUP205_ENST00000440390.2_Silent_p.L131L	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	337					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.L337L(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CGCTGGCATTGAGGGGAATAT	0.448																																						uc003vsw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(1009-1011)TTG>TTA		nucleoporin 205kDa							101.0	94.0	96.0					7																	135263632		2203	4300	6503	SO:0001819	synonymous_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135263632G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1011G>A	7.37:g.135263632G>A						NUP205_uc011kqa.1_RNA	p.L337L	NM_015135	NP_055950	Q92621	NU205_HUMAN			7	1042	+			337					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.1011G>A	CCDS34759.1																																																																																				0.448	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1				12	32	0	0	0	0.024245	0	12	32		
NUP205	23165	broad.mit.edu	37	7	135302356	135302356	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:135302356C>T	ENST00000285968.6	+	27	3723	c.3697C>T	c.(3697-3699)Cat>Tat	p.H1233Y		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1233					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.H1233Y(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CCAGCTTCTTCATAGGGTTCT	0.403																																						uc003vsw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(3697-3699)CAT>TAT		nucleoporin 205kDa							79.0	76.0	77.0					7																	135302356		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135302356C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3697C>T	7.37:g.135302356C>T	ENSP00000285968:p.His1233Tyr					NUP205_uc003vsx.2_5'Flank	p.H1233Y	NM_015135	NP_055950	Q92621	NU205_HUMAN			27	3728	+			1233					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.3697C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	33	5.205431	0.95033	.	.	ENSG00000155561	ENST00000285968	T	0.30714	1.52	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.16928	-1.0386	10	0.02654	T	1	-15.3704	20.0407	0.97588	0.0:1.0:0.0:0.0	.	1233	Q92621	NU205_HUMAN	Y	1233	ENSP00000285968:H1233Y	ENSP00000285968:H1233Y	H	+	1	0	NUP205	134952896	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.487000	0.81328	2.746000	0.94184	0.561000	0.74099	CAT		0.403	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1				14	51	0	0	0	0.105934	0	14	51		
ZNF786	136051	broad.mit.edu	37	7	148769075	148769075	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:148769075C>T	ENST00000491431.1	-	4	853	c.789G>A	c.(787-789)acG>acA	p.T263T	ZNF786_ENST00000316286.9_Silent_p.T177T|ZNF786_ENST00000451334.3_Silent_p.T226T	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T262T(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGCCCCTCCCCGTGTGGGCCG	0.682																																						uc003wfh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(3)|skin(1)	4						c.(787-789)ACG>ACA		zinc finger protein 786							23.0	29.0	27.0					7																	148769075		2146	4255	6401	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148769075C>T	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.789G>A	7.37:g.148769075C>T						ZNF786_uc011kuk.1_Silent_p.T226T|ZNF786_uc003wfi.2_Silent_p.T177T	p.T263T	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	926	-	Melanoma(164;0.15)		263					A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.789G>A	CCDS47738.1																																																																																				0.682	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1		NM_152411		12	27	0	0	0	0.028581	0	12	27		
GIMAP2	26157	broad.mit.edu	37	7	150390122	150390122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:150390122C>T	ENST00000223293.5	+	3	842	c.748C>T	c.(748-750)Caa>Taa	p.Q250*		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	250						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)	p.Q250*(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGGAAACTCAAAGAAGTTA	0.383																																						uc003who.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(1)	1						c.(748-750)CAA>TAA		GTPase, IMAP family member 2							100.0	101.0	100.0					7																	150390122		2203	4300	6503	SO:0001587	stop_gained	26157					integral to membrane	GTP binding	g.chr7:150390122C>T	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.748C>T	7.37:g.150390122C>T	ENSP00000223293:p.Gln250*					GIMAP1_uc003whp.2_Intron	p.Q250*	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	836	+			250					Q96L25	Nonsense_Mutation	SNP	ENST00000223293.5	37	c.748C>T	CCDS5905.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375666	0.42105	.	.	ENSG00000106560	ENST00000223293	.	.	.	3.28	1.19	0.21007	.	0.588261	0.15896	N	0.239311	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	5.311	0.15831	0.2361:0.5339:0.23:0.0	.	.	.	.	X	250	.	ENSP00000223293:Q250X	Q	+	1	0	GIMAP2	150021055	0.047000	0.20315	0.321000	0.25320	0.044000	0.14063	0.093000	0.15086	0.733000	0.32492	-0.172000	0.13284	CAA		0.383	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1		NM_015660		28	30	0	0	0	0.099896	0	28	30		
RP1L1	94137	broad.mit.edu	37	8	10468223	10468223	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:10468223C>G	ENST00000382483.3	-	4	3608	c.3385G>C	c.(3385-3387)Gag>Cag	p.E1129Q		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1129					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E1129Q(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGTCTTCCTCAAATAACTGC	0.602																																						uc003wtc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3385-3387)GAG>CAG		retinitis pigmentosa 1-like 1							65.0	75.0	72.0					8																	10468223		1972	4159	6131	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10468223C>G	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3385G>C	8.37:g.10468223C>G	ENSP00000371923:p.Glu1129Gln						p.E1129Q	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3614	-			1129					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3385G>C	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	9.924	1.212957	0.22289	.	.	ENSG00000183638	ENST00000382483	T	0.76709	-1.04	4.74	3.87	0.44632	.	0.216865	0.23243	N	0.050322	T	0.59622	0.2207	N	0.08118	0	0.09310	N	0.999997	B	0.02656	0.0	B	0.06405	0.002	T	0.56619	-0.7949	10	0.72032	D	0.01	-15.9839	11.9664	0.53038	0.0:0.9161:0.0:0.0839	.	1129	A6NKC6	.	Q	1129	ENSP00000371923:E1129Q	ENSP00000371923:E1129Q	E	-	1	0	RP1L1	10505633	1.000000	0.71417	0.992000	0.48379	0.082000	0.17680	3.339000	0.52135	1.205000	0.43262	0.561000	0.74099	GAG		0.602	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1				56	41	0	0	0	0.048971	0	56	41		
PDLIM2	64236	broad.mit.edu	37	8	22442667	22442667	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:22442667C>T	ENST00000397760.4	+	5	853	c.453C>T	c.(451-453)atC>atT	p.I151I	PDLIM2_ENST00000397761.2_Silent_p.I151I|PDLIM2_ENST00000409417.1_Silent_p.I151I|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000265810.4_Silent_p.I151I|PDLIM2_ENST00000308354.7_Silent_p.I401I|PDLIM2_ENST00000409141.1_Silent_p.I151I|PDLIM2_ENST00000339162.7_Silent_p.I151I			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	151	Ser-rich.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.I401I(1)|p.I151I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGGCAGCCATCAGCCGCAGGT	0.662																																						uc003xby.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(451-453)ATC>ATT		PDZ and LIM domain 2 isoform 2							45.0	45.0	45.0					8																	22442667		2203	4299	6502	SO:0001819	synonymous_variant	64236					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding	g.chr8:22442667C>T	AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.453C>T	8.37:g.22442667C>T						PDLIM2_uc003xbx.1_Silent_p.I151I|PDLIM2_uc003xbz.2_Silent_p.I151I|PDLIM2_uc003xca.2_Silent_p.I151I|PDLIM2_uc003xcb.2_Silent_p.I151I|PDLIM2_uc003xcc.1_Silent_p.I151I	p.I151I	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)	5	853	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	151			Ser-rich.		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Silent	SNP	ENST00000397760.4	37	c.453C>T																																																																																					0.662	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1				26	21	0	0	0	0.11126	0	26	21		
ST18	9705	broad.mit.edu	37	8	53084883	53084883	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:53084883C>T	ENST00000276480.7	-	10	1221	c.538G>A	c.(538-540)Gat>Aat	p.D180N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	180					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D180N(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGAGAATCATCAATCTTGTCT	0.428																																						uc003xqz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(538-540)GAT>AAT		suppression of tumorigenicity 18							117.0	106.0	110.0					8																	53084883		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084883C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.538G>A	8.37:g.53084883C>T	ENSP00000276480:p.Asp180Asn					ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.D145N|ST18_uc011lds.1_Missense_Mutation_p.D85N|ST18_uc003xra.2_Missense_Mutation_p.D180N|ST18_uc003xrb.2_Missense_Mutation_p.D180N	p.D180N	NM_014682	NP_055497	O60284	ST18_HUMAN			5	694	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	180					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.538G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	2.300	-0.360362	0.05103	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.41065	1.01;1.02	5.63	-3.67	0.04476	.	1.753620	0.02185	N	0.060866	T	0.17874	0.0429	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07424	-1.0773	10	0.24483	T	0.36	0.5221	3.6642	0.08250	0.0919:0.1912:0.1914:0.5255	.	180	O60284	ST18_HUMAN	N	180	ENSP00000276480:D180N;ENSP00000428521:D180N	ENSP00000276480:D180N	D	-	1	0	ST18	53247436	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.723000	0.04952	-0.972000	0.03559	-0.140000	0.14226	GAT		0.428	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1				55	100	0	0	0	0.048971	0	55	100		
ST18	9705	broad.mit.edu	37	8	53084982	53084982	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:53084982C>T	ENST00000276480.7	-	10	1122	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	147					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E147K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTAAATTTTCACTTACAGTC	0.378																																						uc003xqz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(439-441)GAA>AAA		suppression of tumorigenicity 18							93.0	92.0	92.0					8																	53084982		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084982C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.439G>A	8.37:g.53084982C>T	ENSP00000276480:p.Glu147Lys					ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E112K|ST18_uc011lds.1_Missense_Mutation_p.E52K|ST18_uc003xra.2_Missense_Mutation_p.E147K|ST18_uc003xrb.2_Missense_Mutation_p.E147K	p.E147K	NM_014682	NP_055497	O60284	ST18_HUMAN			5	595	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	147					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.439G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442866	0.43326	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.50277	0.79;0.75	5.39	5.39	0.77823	.	0.600033	0.18624	N	0.135768	T	0.49098	0.1537	M	0.62723	1.935	0.53688	D	0.999979	B	0.27559	0.181	B	0.18561	0.022	T	0.48514	-0.9029	10	0.52906	T	0.07	-5.3422	19.1552	0.93507	0.0:1.0:0.0:0.0	.	147	O60284	ST18_HUMAN	K	147	ENSP00000276480:E147K;ENSP00000428521:E147K	ENSP00000276480:E147K	E	-	1	0	ST18	53247535	0.933000	0.31639	0.246000	0.24233	0.137000	0.21094	2.670000	0.46833	2.533000	0.85409	0.655000	0.94253	GAA		0.378	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1				64	103	0	0	0	0.048971	0	64	103		
PDE7A	5150	broad.mit.edu	37	8	66659966	66659966	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:66659966C>G	ENST00000401827.3	-	4	799	c.356G>C	c.(355-357)aGa>aCa	p.R119T	PDE7A_ENST00000518667.1_5'UTR|PDE7A_ENST00000379419.4_Missense_Mutation_p.R93T|PDE7A_ENST00000396642.3_Missense_Mutation_p.R119T	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	119					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.R93T(1)|p.R119T(1)		large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GCGTGAAGATCTAAGATATCG	0.343																																						uc003xvq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(355-357)AGA>ACA		phosphodiesterase 7A isoform b	Dyphylline(DB00651)|Ketotifen(DB00920)						86.0	84.0	85.0					8																	66659966		2202	4300	6502	SO:0001583	missense	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66659966C>G	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.356G>C	8.37:g.66659966C>G	ENSP00000385632:p.Arg119Thr					PDE7A_uc003xvr.2_Missense_Mutation_p.R119T|PDE7A_uc003xvp.2_Missense_Mutation_p.R93T	p.R119T	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		4	368	-			119					A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	c.356G>C	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344289	0.41498	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642	T;T;T	0.68624	-0.33;-0.34;-0.33	5.35	5.35	0.76521	.	0.185984	0.56097	D	0.000027	T	0.54759	0.1878	L	0.39898	1.24	0.40576	D	0.981349	B;B;B	0.29037	0.144;0.081;0.231	B;B;B	0.25759	0.056;0.063;0.056	T	0.51942	-0.8641	10	0.22109	T	0.4	.	12.4868	0.55877	0.0:0.9223:0.0:0.0777	.	119;119;93	Q13946-3;Q13946;Q13946-2	.;PDE7A_HUMAN;.	T	119;93;119	ENSP00000385632:R119T;ENSP00000368730:R93T;ENSP00000379881:R119T	ENSP00000368730:R93T	R	-	2	0	PDE7A	66822520	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.464000	0.45067	2.677000	0.91161	0.580000	0.79431	AGA		0.343	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1				15	33	0	0	0	0.020292	0	15	33		
PREX2	80243	broad.mit.edu	37	8	68981310	68981310	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:68981310G>C	ENST00000288368.4	+	12	1659	c.1382G>C	c.(1381-1383)aGa>aCa	p.R461T	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	461	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.R461T(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGTTATATAGATTTCGCTAT	0.348																																						uc003xxv.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(1381-1383)AGA>ACA		DEP domain containing 2 isoform a							75.0	70.0	72.0					8																	68981310		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68981310G>C	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1382G>C	8.37:g.68981310G>C	ENSP00000288368:p.Arg461Thr					PREX2_uc003xxu.1_Missense_Mutation_p.R461T|PREX2_uc011lez.1_Missense_Mutation_p.R396T	p.R461T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			12	1409	+			461			DEP 1.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.1382G>C	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146061	0.94603	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.26518	1.73	5.72	5.72	0.89469	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.62992	-0.6736	10	0.87932	D	0	.	20.2406	0.98372	0.0:0.0:1.0:0.0	.	461;461;461	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	T	461	ENSP00000288368:R461T	ENSP00000288368:R461T	R	+	2	0	PREX2	69143864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.536000	0.98067	2.857000	0.98124	0.650000	0.86243	AGA		0.348	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1		NM_025170		24	46	0	0	0	0.0918	0	24	46		
WWP1	11059	broad.mit.edu	37	8	87439902	87439902	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:87439902A>T	ENST00000517970.1	+	11	1495	c.1188A>T	c.(1186-1188)agA>agT	p.R396S	WWP1_ENST00000265428.4_Missense_Mutation_p.R396S|WWP1_ENST00000349423.2_Missense_Mutation_p.R178S|WWP1_ENST00000341922.2_Missense_Mutation_p.R266S	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	396	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R396S(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ATCGTAGAAGAGTTTATTATG	0.373																																						uc003ydt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|liver(1)	2						c.(1186-1188)AGA>AGT		WW domain containing E3 ubiquitin protein ligase							148.0	148.0	148.0					8																	87439902		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87439902A>T	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1188A>T	8.37:g.87439902A>T	ENSP00000427793:p.Arg396Ser					WWP1_uc010mai.2_Missense_Mutation_p.R172S	p.R396S	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN			11	1468	+			396			WW 2.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.1188A>T	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085033	0.76642	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	5.54	0.364	0.16124	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.93769	0.8008	H	0.96269	3.795	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.76575	0.976;0.988	D	0.90102	0.4185	10	0.87932	D	0	.	5.2677	0.15607	0.6117:0.0:0.2693:0.119	.	178;396	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	S	396;396;266;178	ENSP00000427793:R396S;ENSP00000265428:R396S;ENSP00000340564:R266S;ENSP00000342665:R178S	ENSP00000265428:R396S	R	+	3	2	WWP1	87509018	0.998000	0.40836	0.968000	0.41197	0.990000	0.78478	0.748000	0.26305	-0.167000	0.10871	-0.263000	0.10527	AGA		0.373	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1		NM_007013		55	125	0	0	0	0.048971	0	55	125		
FZD6	8323	broad.mit.edu	37	8	104337581	104337581	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:104337581G>A	ENST00000358755.4	+	4	1564	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	FZD6_ENST00000522566.1_Missense_Mutation_p.R416Q|FZD6_ENST00000540287.1_Missense_Mutation_p.R111Q|FZD6_ENST00000523739.1_Missense_Mutation_p.R384Q	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	416					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R416Q(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTTATGATTCGAATTGGAGTC	0.403																																						uc003ylh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(1246-1248)CGA>CAA		frizzled 6 isoform a precursor							137.0	129.0	132.0					8																	104337581		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104337581G>A	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1247G>A	8.37:g.104337581G>A	ENSP00000351605:p.Arg416Gln					FZD6_uc003yli.2_Missense_Mutation_p.R416Q|FZD6_uc003ylj.2_Missense_Mutation_p.R416Q|FZD6_uc011lhn.1_Missense_Mutation_p.R382Q|FZD6_uc011lho.1_Missense_Mutation_p.R111Q|FZD6_uc011lhp.1_Missense_Mutation_p.R361Q	p.R416Q	NM_003506	NP_003497	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		4	1531	+			416			Cytoplasmic (Potential).		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.1247G>A	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	G	34	5.340033	0.95783	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	6.03	6.03	0.97812	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	M	0.93638	3.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.998	D	0.95189	0.8306	10	0.87932	D	0	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	361;111;416;416	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	Q	416;416;384;111;361	ENSP00000429055:R416Q;ENSP00000351605:R416Q;ENSP00000429528:R384Q;ENSP00000443757:R111Q	ENSP00000351605:R416Q	R	+	2	0	FZD6	104406757	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.869000	0.99810	2.868000	0.98415	0.557000	0.71058	CGA		0.403	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1		NM_003506		18	88	0	0	0	0.083992	0	18	88		
ZHX2	22882	broad.mit.edu	37	8	123964977	123964977	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:123964977G>C	ENST00000314393.4	+	3	2062	c.1227G>C	c.(1225-1227)ttG>ttC	p.L409F		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	409	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L409F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGAGACCCTTGGTGACTCCCC	0.637																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc003ypk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1225-1227)TTG>TTC		zinc fingers and homeoboxes 2							47.0	58.0	54.0					8																	123964977		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964977G>C	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1227G>C	8.37:g.123964977G>C	ENSP00000314709:p.Leu409Phe						p.L409F	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1794	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		409			Required for interaction with NFYA.|Required for repressor activity.|Required for nuclear localization.			Missense_Mutation	SNP	ENST00000314393.4	37	c.1227G>C	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.254384	0.01457	.	.	ENSG00000178764	ENST00000314393	T	0.19669	2.13	5.29	0.562	0.17290	.	0.413581	0.21965	N	0.066537	T	0.12987	0.0315	N	0.14661	0.345	0.09310	N	1	P	0.45902	0.868	P	0.48030	0.564	T	0.26018	-1.0115	10	0.10111	T	0.7	-10.6457	9.731	0.40361	0.3631:0.0:0.6368:0.0	.	409	Q9Y6X8	ZHX2_HUMAN	F	409	ENSP00000314709:L409F	ENSP00000314709:L409F	L	+	3	2	ZHX2	124034158	0.268000	0.24133	0.821000	0.32701	0.550000	0.35303	-0.015000	0.12634	0.234000	0.21139	0.485000	0.47835	TTG		0.637	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1		NM_014943		3	54	0	0	0	0.004672	0	3	54		
ATAD2	29028	broad.mit.edu	37	8	124335198	124335198	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:124335198C>A	ENST00000287394.5	-	27	4218	c.4111G>T	c.(4111-4113)Gat>Tat	p.D1371Y	ATAD2_ENST00000521903.1_Missense_Mutation_p.D689Y	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1371					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D1371Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GATGTTTTATCATGGTCCTTG	0.333																																						uc003yqh.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(4111-4113)GAT>TAT		ATPase family, AAA domain containing 2							158.0	153.0	155.0					8																	124335198		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124335198C>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.4111G>T	8.37:g.124335198C>A	ENSP00000287394:p.Asp1371Tyr					ATAD2_uc011lii.1_Missense_Mutation_p.D1162Y|ATAD2_uc003yqi.3_RNA	p.D1371Y	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		27	4219	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		1371					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.4111G>T	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912610	0.72983	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;T	0.96104	-3.91;0.46	5.66	5.66	0.87406	.	0.256045	0.44097	D	0.000500	D	0.97065	0.9041	M	0.69358	2.11	0.43091	D	0.994761	D	0.89917	1.0	D	0.76071	0.987	D	0.97426	1.0012	10	0.87932	D	0	-18.7043	13.9895	0.64357	0.0:0.9254:0.0:0.0746	.	1371	Q6PL18	ATAD2_HUMAN	Y	1371;689	ENSP00000287394:D1371Y;ENSP00000429213:D689Y	ENSP00000287394:D1371Y	D	-	1	0	ATAD2	124404379	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.654000	0.67974	2.653000	0.90120	0.655000	0.94253	GAT		0.333	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2		NM_014109		61	116	1	0	4.57574e-12	0.048971	4.77418e-12	61	116		
ATAD2	29028	broad.mit.edu	37	8	124346190	124346190	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:124346190C>T	ENST00000287394.5	-	24	3513	c.3406G>A	c.(3406-3408)Gat>Aat	p.D1136N	ATAD2_ENST00000521903.1_Missense_Mutation_p.D454N	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1136					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D1136N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GATCTTTTATCACCAACAAGA	0.413																																						uc003yqh.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(3406-3408)GAT>AAT		ATPase family, AAA domain containing 2							130.0	119.0	123.0					8																	124346190		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124346190C>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3406G>A	8.37:g.124346190C>T	ENSP00000287394:p.Asp1136Asn					ATAD2_uc011lii.1_Missense_Mutation_p.D927N|ATAD2_uc003yqi.3_RNA	p.D1136N	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		24	3514	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		1136					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.3406G>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370413	0.42003	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;T	0.91631	-2.88;1.53	5.84	5.84	0.93424	.	0.753892	0.13716	N	0.367727	D	0.87390	0.6165	L	0.34521	1.04	0.30924	N	0.72772	B	0.02656	0.0	B	0.01281	0.0	T	0.79308	-0.1857	10	0.17369	T	0.5	-8.3669	14.8102	0.69989	0.1781:0.8219:0.0:0.0	.	1136	Q6PL18	ATAD2_HUMAN	N	1136;454	ENSP00000287394:D1136N;ENSP00000429213:D454N	ENSP00000287394:D1136N	D	-	1	0	ATAD2	124415371	0.801000	0.28930	0.447000	0.26932	0.643000	0.38383	3.540000	0.53611	2.769000	0.95229	0.561000	0.74099	GAT		0.413	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2		NM_014109		25	113	0	0	0	0.083992	0	25	113		
MTSS1	9788	broad.mit.edu	37	8	125568500	125568500	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:125568500C>T	ENST00000518547.1	-	12	1850	c.1377G>A	c.(1375-1377)cgG>cgA	p.R459R	MTSS1_ENST00000325064.5_Silent_p.R463R|MTSS1_ENST00000524090.1_Silent_p.R349R|MTSS1_ENST00000378017.3_Silent_p.R434R|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000431961.2_Silent_p.R177R|MTSS1_ENST00000395508.2_Silent_p.R233R|MTSS1_ENST00000354184.4_Silent_p.R177R|NDUFB9_ENST00000522532.1_Intron	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	459					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.R459R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CAGTCATGCTCCGTGGTCTCT	0.632																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	uc003yrk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1375-1377)CGG>CGA		metastasis suppressor 1							87.0	73.0	78.0					8																	125568500		2203	4300	6503	SO:0001819	synonymous_variant	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125568500C>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1377G>A	8.37:g.125568500C>T						NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'UTR|MTSS1_uc011lin.1_Silent_p.R233R|MTSS1_uc011lio.1_Silent_p.R349R|MTSS1_uc003yri.2_Silent_p.R177R|MTSS1_uc003yrj.2_Silent_p.R434R|MTSS1_uc003yrl.2_Silent_p.R463R	p.R459R	NM_014751	NP_055566	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		12	1911	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		459					J3KNK6|Q8TCA2|Q96RX2	Silent	SNP	ENST00000518547.1	37	c.1377G>A	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400559	0.25291	.	.	ENSG00000170873	ENST00000519168;ENST00000523179	.	.	.	4.65	2.74	0.32292	.	.	.	.	.	T	0.60869	0.2302	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55153	-0.8185	4	.	.	.	-19.5785	10.809	0.46535	0.1479:0.7097:0.1424:0.0	.	.	.	.	K	247;242	.	.	E	-	1	0	MTSS1	125637681	1.000000	0.71417	0.912000	0.35992	0.976000	0.68499	1.788000	0.38714	0.338000	0.23692	0.455000	0.32223	GAG		0.632	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3		NM_014751		9	22	0	0	0	0.080935	0	9	22		
NSMCE2	286053	broad.mit.edu	37	8	126114679	126114679	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:126114679C>G	ENST00000287437.3	+	3	323	c.107C>G	c.(106-108)tCt>tGt	p.S36C	NSMCE2_ENST00000522563.1_Missense_Mutation_p.S36C	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	36					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|protein sumoylation (GO:0016925)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.S36C(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TGTATCAACTCTGGTATGGAC	0.418																																						uc003yrw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(106-108)TCT>TGT		non-SMC element 2, MMS21 homolog							155.0	145.0	148.0					8																	126114679		2203	4300	6503	SO:0001583	missense	286053				DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding	g.chr8:126114679C>G	AK057002	CCDS6356.1	8q24.13	2013-01-28	2006-12-21	2006-07-05	ENSG00000156831	ENSG00000156831		"""Zinc fingers, MIZ-type"""	26513	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 7"""		"""chromosome 8 open reading frame 36"", ""non-SMC element 2 homolog (MMS21, S. cerevisiae)"""	C8orf36		12477932	Standard	NM_173685		Approved	FLJ32440, MMS21, NSE2, ZMIZ7	uc003yrw.2	Q96MF7	OTTHUMG00000164993	ENST00000287437.3:c.107C>G	8.37:g.126114679C>G	ENSP00000287437:p.Ser36Cys					NSMCE2_uc003yrv.2_Missense_Mutation_p.S36C	p.S36C	NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		3	335	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		36					Q8N549	Missense_Mutation	SNP	ENST00000287437.3	37	c.107C>G	CCDS6356.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250094	0.39797	.	.	ENSG00000156831	ENST00000523741;ENST00000517532;ENST00000287437;ENST00000518013;ENST00000522563	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.74	5.74	0.90152	.	0.089199	0.46145	D	0.000318	T	0.50922	0.1644	L	0.51422	1.61	0.36945	D	0.892572	P;P	0.48162	0.856;0.906	B;P	0.46975	0.417;0.533	T	0.60347	-0.7281	10	0.72032	D	0.01	.	15.7729	0.78184	0.0:1.0:0.0:0.0	.	36;36	Q96MF7;E5RHW9	NSE2_HUMAN;.	C	36	ENSP00000429383:S36C;ENSP00000429612:S36C;ENSP00000287437:S36C;ENSP00000430668:S36C	ENSP00000287437:S36C	S	+	2	0	NSMCE2	126183861	0.476000	0.25901	0.998000	0.56505	0.993000	0.82548	4.054000	0.57434	2.873000	0.98535	0.561000	0.74099	TCT		0.418	NSMCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381378.1		NM_173685		20	138	0	0	0	0.099896	0	20	138		
NSMCE2	286053	broad.mit.edu	37	8	126114697	126114697	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:126114697C>T	ENST00000287437.3	+	3	341	c.125C>T	c.(124-126)tCt>tTt	p.S42F	NSMCE2_ENST00000522563.1_Missense_Mutation_p.S42F	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	42					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|protein sumoylation (GO:0016925)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.S42F(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GACACAGCTTCTAGTGTTGCT	0.423																																						uc003yrw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(124-126)TCT>TTT		non-SMC element 2, MMS21 homolog							159.0	148.0	152.0					8																	126114697		2203	4300	6503	SO:0001583	missense	286053				DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding	g.chr8:126114697C>T	AK057002	CCDS6356.1	8q24.13	2013-01-28	2006-12-21	2006-07-05	ENSG00000156831	ENSG00000156831		"""Zinc fingers, MIZ-type"""	26513	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 7"""		"""chromosome 8 open reading frame 36"", ""non-SMC element 2 homolog (MMS21, S. cerevisiae)"""	C8orf36		12477932	Standard	NM_173685		Approved	FLJ32440, MMS21, NSE2, ZMIZ7	uc003yrw.2	Q96MF7	OTTHUMG00000164993	ENST00000287437.3:c.125C>T	8.37:g.126114697C>T	ENSP00000287437:p.Ser42Phe					NSMCE2_uc003yrv.2_Missense_Mutation_p.S42F	p.S42F	NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		3	353	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		42					Q8N549	Missense_Mutation	SNP	ENST00000287437.3	37	c.125C>T	CCDS6356.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623653	0.28889	.	.	ENSG00000156831	ENST00000523741;ENST00000517532;ENST00000287437;ENST00000518013;ENST00000522563	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.74	3.85	0.44370	.	0.088997	0.46145	D	0.000303	T	0.56761	0.2007	L	0.56769	1.78	0.38309	D	0.943196	P;D	0.67145	0.498;0.996	B;P	0.56700	0.078;0.804	T	0.64786	-0.6325	10	0.62326	D	0.03	.	12.0876	0.53706	0.3077:0.6923:0.0:0.0	.	42;42	Q96MF7;E5RHW9	NSE2_HUMAN;.	F	42	ENSP00000429383:S42F;ENSP00000429612:S42F;ENSP00000287437:S42F;ENSP00000430668:S42F	ENSP00000287437:S42F	S	+	2	0	NSMCE2	126183879	0.965000	0.33210	1.000000	0.80357	0.878000	0.50629	1.158000	0.31737	1.564000	0.49628	0.561000	0.74099	TCT		0.423	NSMCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381378.1		NM_173685		22	141	0	0	0	0.076483	0	22	141		
FAM135B	51059	broad.mit.edu	37	8	139380150	139380150	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:139380150C>T	ENST00000395297.1	-	2	247	c.77G>A	c.(76-78)gGg>gAg	p.G26E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	26								p.G26E(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATACTTACCCTCTCTGAAA	0.393										HNSCC(54;0.14)																												uc003yuy.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(7)|skin(2)	9						c.(76-78)GGG>GAG		hypothetical protein LOC51059							117.0	112.0	113.0					8																	139380150		1869	4116	5985	SO:0001630	splice_region_variant	51059							g.chr8:139380150C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.77+1G>A	8.37:g.139380150C>T		HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.G26E	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		2	248	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		26					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.77G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869531	0.91587	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.47528	0.84	5.54	5.54	0.83059	.	0.000000	0.53938	U	0.000041	T	0.72326	0.3446	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73685	-0.3905	9	.	.	.	-10.7357	18.3941	0.90493	0.0:1.0:0.0:0.0	.	26	Q49AJ0	F135B_HUMAN	E	26	ENSP00000378710:G26E	.	G	-	2	0	FAM135B	139449332	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.190000	0.77755	2.768000	0.95171	0.561000	0.74099	GGG		0.393	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3		NM_015912	Missense_Mutation	7	88	0	0	0	0.038147	0	7	88		
ARHGAP39	80728	broad.mit.edu	37	8	145806415	145806415	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:145806415C>T	ENST00000276826.5	-	2	528	c.327G>A	c.(325-327)ctG>ctA	p.L109L	ARHGAP39_ENST00000540274.1_Silent_p.L109L|ARHGAP39_ENST00000377307.2_Silent_p.L109L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	109					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.L109L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGTTCTGCTTCAGCGTCTGCA	0.701																																						uc003zdt.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(325-327)CTG>CTA		KIAA1688 protein							15.0	16.0	16.0					8																	145806415		2192	4290	6482	SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145806415C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.327G>A	8.37:g.145806415C>T						ARHGAP39_uc011llk.1_Silent_p.L109L|ARHGAP39_uc003zds.1_Silent_p.L109L	p.L109L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			4	882	-			109					B4E1I1	Silent	SNP	ENST00000276826.5	37	c.327G>A																																																																																					0.701	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1				8	3	0	0	0	0.038147	0	8	3		
SMARCA2	6595	broad.mit.edu	37	9	2110409	2110409	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:2110409C>T	ENST00000382203.1	+	24	3657	c.3448C>T	c.(3448-3450)Cct>Tct	p.P1150S	SMARCA2_ENST00000357248.2_Missense_Mutation_p.P1150S|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P1150S|SMARCA2_ENST00000349721.2_Missense_Mutation_p.P1150S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1150	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.P1146S(1)|p.P1150S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CGACTGGAATCCTCATCAGGT	0.478																																						uc003zhc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|central_nervous_system(1)	3						c.(3448-3450)CCT>TCT		SWI/SNF-related matrix-associated							69.0	64.0	66.0					9																	2110409		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2110409C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3448C>T	9.37:g.2110409C>T	ENSP00000371638:p.Pro1150Ser					SMARCA2_uc003zhd.2_Missense_Mutation_p.P1150S|SMARCA2_uc010mha.2_Missense_Mutation_p.P1083S	p.P1150S	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	24	3547	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1150			Helicase C-terminal.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.3448C>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040241	0.93630	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82	5.45	5.45	0.79879	Helicase, C-terminal (3);	0.066841	0.64402	D	0.000006	D	0.98679	0.9557	H	0.96748	3.875	0.80722	D	1	D;P;P	0.89917	1.0;0.72;0.762	D;B;P	0.97110	1.0;0.346;0.478	D	0.99379	1.0922	10	0.87932	D	0	-13.7738	19.6451	0.95773	0.0:1.0:0.0:0.0	.	751;1150;1150	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	S	1150	ENSP00000265773:P1150S;ENSP00000349788:P1150S;ENSP00000371638:P1150S;ENSP00000371629:P1150S	ENSP00000265773:P1150S	P	+	1	0	SMARCA2	2100409	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.816000	0.86201	2.720000	0.93068	0.655000	0.94253	CCT		0.478	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1		NM_003070		20	8	0	0	0	0.043863	0	20	8		
FOCAD	54914	broad.mit.edu	37	9	20874759	20874759	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:20874759C>G	ENST00000380249.1	+	21	2634	c.2270C>G	c.(2269-2271)tCt>tGt	p.S757C	FOCAD_ENST00000338382.6_Missense_Mutation_p.S757C|FOCAD_ENST00000605086.1_Missense_Mutation_p.S193C|FOCAD_ENST00000604828.1_3'UTR	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	757						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.S757C(1)									GTTCCTGGCTCTTGCTATCTC	0.408																																						uc003zog.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|breast(1)|kidney(1)	10						c.(2269-2271)TCT>TGT		hypothetical protein LOC54914							262.0	234.0	243.0					9																	20874759		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20874759C>G	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2270C>G	9.37:g.20874759C>G	ENSP00000369599:p.Ser757Cys					KIAA1797_uc003zoh.1_Missense_Mutation_p.S193C	p.S757C	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	21	2633	+			757					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.2270C>G	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084890	0.36758	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.68479	-0.33;-0.33	5.6	0.123	0.14709	Armadillo-type fold (1);	0.451157	0.26352	N	0.024867	T	0.53222	0.1783	L	0.50333	1.59	0.18873	N	0.999988	P	0.45348	0.856	B	0.40101	0.319	T	0.50524	-0.8818	10	0.62326	D	0.03	-35.5827	5.4244	0.16417	0.127:0.5699:0.0:0.3031	.	757	Q5VW36	K1797_HUMAN	C	757	ENSP00000369599:S757C;ENSP00000344307:S757C	ENSP00000344307:S757C	S	+	2	0	KIAA1797	20864759	0.000000	0.05858	0.181000	0.23098	0.988000	0.76386	0.328000	0.19681	-0.170000	0.10816	0.650000	0.86243	TCT		0.408	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1		NM_017794		23	22	0	0	0	0.062417	0	23	22		
UNC13B	10497	broad.mit.edu	37	9	35386232	35386232	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:35386232C>T	ENST00000378495.3	+	23	3011	c.2789C>T	c.(2788-2790)tCc>tTc	p.S930F	UNC13B_ENST00000378496.4_Missense_Mutation_p.S930F|UNC13B_ENST00000396787.1_Missense_Mutation_p.S942F	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	930					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.S930F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGTTTGAACTCCACATATGAA	0.493																																						uc003zwq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(2788-2790)TCC>TTC		UNC13 (C. elegans)-like							74.0	75.0	75.0					9																	35386232		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35386232C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2789C>T	9.37:g.35386232C>T	ENSP00000367756:p.Ser930Phe					UNC13B_uc003zwr.2_Missense_Mutation_p.S930F	p.S930F	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		23	3081	+	all_epithelial(49;0.212)		930					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.2789C>T	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851359	0.91355	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.85484	-1.86;-1.79;-1.99	4.76	4.76	0.60689	Calcium-dependent secretion activator (1);	0.100301	0.64402	D	0.000001	D	0.92450	0.7603	M	0.81341	2.54	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.69824	0.93;0.966	D	0.93367	0.6732	10	0.87932	D	0	-14.6683	18.3312	0.90270	0.0:1.0:0.0:0.0	.	930;930	F8W8M9;O14795	.;UN13B_HUMAN	F	942;930;930;517	ENSP00000380006:S942F;ENSP00000367756:S930F;ENSP00000367757:S930F	ENSP00000367756:S930F	S	+	2	0	UNC13B	35376232	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.525000	0.81892	2.627000	0.88993	0.655000	0.94253	TCC		0.493	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1		NM_006377		27	16	0	0	0	0.099896	0	27	16		
GDA	9615	broad.mit.edu	37	9	74764526	74764526	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:74764526C>T	ENST00000358399.3	+	1	144	c.51C>T	c.(49-51)ttC>ttT	p.F17F	GDA_ENST00000238018.4_Silent_p.F17F|GDA_ENST00000376986.1_5'UTR|GDA_ENST00000545168.1_Intron|GDA_ENST00000376989.3_5'UTR	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	17					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.F17F(4)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GAGGGACGTTCGTCCACTCCA	0.697																																						uc004aiq.2		NaN																	4	Substitution - coding silent(4)		urinary_tract(2)|lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(49-51)TTC>TTT		guanine deaminase							32.0	26.0	28.0					9																	74764526		2202	4299	6501	SO:0001819	synonymous_variant	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74764526C>T	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.51C>T	9.37:g.74764526C>T						GDA_uc011lse.1_Intron|GDA_uc011lsf.1_5'UTR|GDA_uc004air.2_Silent_p.F17F|GDA_uc010mow.1_RNA|GDA_uc004ais.2_5'UTR	p.F17F	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	1	234	+		Myeloproliferative disorder(762;0.0122)	17					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Silent	SNP	ENST00000358399.3	37	c.51C>T	CCDS6641.1																																																																																				0.697	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1				6	8	0	0	0	0.02938	0	6	8		
STOM	2040	broad.mit.edu	37	9	124110421	124110421	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:124110421G>C	ENST00000286713.2	-	6	549	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V	STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Missense_Mutation_p.L127V	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	178					protein homooligomerization (GO:0051260)|regulation of acid-sensing ion channel activity (GO:1901585)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|vesicle (GO:0031982)		p.L178V(1)		endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		GCATCATCCAGAGTAGACTGT	0.502																																						uc004blh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(532-534)CTG>GTG		stomatin isoform a							120.0	119.0	119.0					9																	124110421		2203	4300	6503	SO:0001583	missense	2040				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding	g.chr9:124110421G>C		CCDS6830.1, CCDS6831.1, CCDS75892.1	9q34.1	2008-07-21	2002-11-11	2002-11-15	ENSG00000148175	ENSG00000148175			3383	protein-coding gene	gene with protein product		133090	"""erythrocyte membrane protein band 7.2 (stomatin)"""	EPB7, EPB72		1883838	Standard	NM_198194		Approved	BND7	uc004blh.4	P27105	OTTHUMG00000020590	ENST00000286713.2:c.532C>G	9.37:g.124110421G>C	ENSP00000286713:p.Leu178Val					STOM_uc011lyk.1_Missense_Mutation_p.L127V|STOM_uc004bli.2_Intron	p.L178V	NM_004099	NP_004090	P27105	STOM_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)	6	612	-			178			Cytoplasmic (Potential).		B1AM77|Q14087|Q15609|Q5VX96|Q96FK4	Missense_Mutation	SNP	ENST00000286713.2	37	c.532C>G	CCDS6830.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.718186	0.68844	.	.	ENSG00000148175	ENST00000286713;ENST00000538954	D;D	0.95885	-3.84;-3.84	5.45	4.56	0.56223	Band 7/stomatin-like, conserved site (1);	0.000000	0.64402	D	0.000002	D	0.96611	0.8894	M	0.66439	2.03	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.96104	0.9071	10	0.56958	D	0.05	.	9.8778	0.41213	0.1557:0.0:0.8443:0.0	.	178	P27105	STOM_HUMAN	V	178;127	ENSP00000286713:L178V;ENSP00000445764:L127V	ENSP00000286713:L178V	L	-	1	2	STOM	123150242	1.000000	0.71417	0.971000	0.41717	0.932000	0.56968	6.518000	0.73764	1.290000	0.44636	0.655000	0.94253	CTG		0.502	STOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053889.1		NM_004099		39	21	0	0	0	0.09836	0	39	21		
VAV2	7410	broad.mit.edu	37	9	136804249	136804249	+	Silent	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:136804249G>T	ENST00000371850.3	-	2	328	c.297C>A	c.(295-297)ctC>ctA	p.L99L	VAV2_ENST00000406606.3_Silent_p.L99L|VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371851.1_Silent_p.L99L	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	99	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L99L(2)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GCACATCGAAGAGGTCAAAGG	0.532																																						uc004ces.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(295-297)CTC>CTA		vav 2 guanine nucleotide exchange factor isoform							147.0	125.0	132.0					9																	136804249		2203	4300	6503	SO:0001819	synonymous_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136804249G>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.297C>A	9.37:g.136804249G>T						VAV2_uc004cer.2_Silent_p.L99L	p.L99L	NM_001134398	NP_001127870	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	2	343	-			99			CH.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	ENST00000371850.3	37	c.297C>A	CCDS48053.1																																																																																				0.532	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1				30	107	1	0	2.24059e-21	0.030593	2.3741e-21	30	107		
COL5A1	1289	broad.mit.edu	37	9	137593102	137593102	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:137593102C>T	ENST00000371817.3	+	4	991	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	193	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.R193C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATTCCTCGACCGCAGCGACCA	0.517																																						uc004cfe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(577-579)CGC>TGC		alpha 1 type V collagen preproprotein							169.0	123.0	139.0					9																	137593102		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137593102C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.577C>T	9.37:g.137593102C>T	ENSP00000360882:p.Arg193Cys						p.R193C	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	4	959	+		Myeloproliferative disorder(178;0.0341)	193			TSP N-terminal.|Laminin G-like.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.577C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865091	0.51482	.	.	ENSG00000130635	ENST00000371817	T	0.78595	-1.19	5.07	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000002	D	0.90772	0.7103	H	0.94306	3.52	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.92773	0.6234	10	0.72032	D	0.01	.	13.7402	0.62842	0.1539:0.8461:0.0:0.0	.	193	P20908	CO5A1_HUMAN	C	193	ENSP00000360882:R193C	ENSP00000360882:R193C	R	+	1	0	COL5A1	136732923	0.977000	0.34250	0.981000	0.43875	0.566000	0.35808	2.225000	0.42954	2.498000	0.84270	0.591000	0.81541	CGC		0.517	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		NM_000093		25	28	0	0	0	0.099896	0	25	28		
KCNT1	57582	broad.mit.edu	37	9	138645821	138645821	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:138645821C>T	ENST00000263604.3	+	5	416	c.416C>T	c.(415-417)tCg>tTg	p.S139L	KCNT1_ENST00000371757.2_Missense_Mutation_p.S158L|KCNT1_ENST00000488444.2_Missense_Mutation_p.S139L|KCNT1_ENST00000491806.2_Missense_Mutation_p.S125L|KCNT1_ENST00000486577.2_Missense_Mutation_p.S119L|KCNT1_ENST00000487664.1_Missense_Mutation_p.S110L|KCNT1_ENST00000298480.5_Missense_Mutation_p.S158L|KCNT1_ENST00000490355.2_Missense_Mutation_p.S139L			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	139					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.S158L(1)|p.S158*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TTCAATGACTCGTCCTCCGAG	0.622																																						uc011mdq.1		NaN																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		urinary_tract(1)|prostate(1)	large_intestine(2)|ovary(1)|pancreas(1)	4						c.(472-474)TCG>TTG		potassium channel, subfamily T, member 1							80.0	71.0	74.0					9																	138645821		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138645821C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.416C>T	9.37:g.138645821C>T	ENSP00000263604:p.Ser139Leu					KCNT1_uc011mdr.1_5'UTR|KCNT1_uc010nbf.2_Missense_Mutation_p.S110L|KCNT1_uc004cgo.1_5'UTR	p.S158L	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	5	547	+		Myeloproliferative disorder(178;0.0821)	158					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.473C>T		.	.	.	.	.	.	.	.	.	.	.	10.08	1.251644	0.22880	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.46451	1.88;1.87;1.87;0.87;1.87	3.85	3.85	0.44370	.	1.030230	0.07739	U	0.946524	T	0.31638	0.0803	L	0.29908	0.895	0.09310	N	1	B;B	0.27229	0.172;0.002	B;B	0.15870	0.014;0.001	T	0.09840	-1.0656	10	0.26408	T	0.33	-14.5765	11.6528	0.51299	0.0:1.0:0.0:0.0	.	158;110	B9EGP2;G5E9V0	.;.	L	110;158;158;105;119;125;139;139;139	ENSP00000417851:S110L;ENSP00000298480:S158L;ENSP00000360822:S158L;ENSP00000420764:S105L;ENSP00000263604:S139L	ENSP00000263604:S139L	S	+	2	0	KCNT1	137785642	0.805000	0.28982	0.015000	0.15790	0.646000	0.38490	2.651000	0.46674	1.883000	0.54544	0.450000	0.29827	TCG		0.622	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_020822		29	66	0	0	0	0.034045	0	29	66		
EHMT1	79813	broad.mit.edu	37	9	140707937	140707937	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:140707937C>T	ENST00000460843.1	+	21	3162	c.3135C>T	c.(3133-3135)tgC>tgT	p.C1045C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1045					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.C1014C(1)|p.C1045C(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTCAGAACTGCGTGACGTCCC	0.582																																						uc011mfc.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	breast(2)|pancreas(1)	3						c.(3133-3135)TGC>TGT		euchromatic histone-lysine N-methyltransferase 1							144.0	91.0	109.0					9																	140707937		2203	4300	6503	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140707937C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3135C>T	9.37:g.140707937C>T						EHMT1_uc004coe.2_5'Flank	p.C1045C	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	21	3172	+	all_cancers(76;0.164)		1045					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.3135C>T	CCDS7050.2																																																																																				0.582	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2		NM_024757		10	30	0	0	0	0.080935	0	10	30		
ATXN3L	92552	broad.mit.edu	37	X	13337636	13337636	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:13337636G>T	ENST00000380622.2	-	1	882	c.418C>A	c.(418-420)Cca>Aca	p.P140T	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	140	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.P140T(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATTAATTCTGGACCCGCCAAG	0.333																																						uc010ned.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(418-420)CCA>ACA		ataxin 3-like							59.0	58.0	59.0					X																	13337636		1568	3582	5150	SO:0001583	missense	92552				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	g.chrX:13337636G>T		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.418C>A	X.37:g.13337636G>T	ENSP00000369996:p.Pro140Thr						p.P140T	NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN			1	883	-			140			Josephin.		B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	c.418C>A	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971324	0.34754	.	.	ENSG00000123594	ENST00000380622	T	0.49720	0.77	0.661	0.661	0.17874	.	0.098719	0.64402	D	0.000001	T	0.71074	0.3297	H	0.94964	3.605	0.54753	D	0.999981	D	0.89917	1.0	D	0.87578	0.998	T	0.72080	-0.4398	10	0.87932	D	0	.	6.936	0.24466	1.0E-4:0.0:0.9999:0.0	.	140	Q9H3M9	ATX3L_HUMAN	T	140	ENSP00000369996:P140T	ENSP00000369996:P140T	P	-	1	0	ATXN3L	13247557	1.000000	0.71417	0.005000	0.12908	0.003000	0.03518	3.893000	0.56243	0.579000	0.29504	0.422000	0.28245	CCA		0.333	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2		NM_001135995		14	7	1	0	6.31663e-08	0.024245	6.50756e-08	14	7		
CXorf23	256643	broad.mit.edu	37	X	19947930	19947930	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:19947930G>A	ENST00000379682.4	-	10	2112	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F	CXorf23_ENST00000379687.3_Silent_p.F664F|CXorf23_ENST00000356980.3_3'UTR			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	693						mitochondrion (GO:0005739)		p.F664F(1)|p.F258F(1)		endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						ATCTTTCTCTGAACTTATGAG	0.333																																						uc004czp.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(1)|skin(1)	2						c.(1990-1992)TTC>TTT		hypothetical protein LOC256643							111.0	111.0	111.0					X																	19947930		2203	4300	6503	SO:0001819	synonymous_variant	256643					mitochondrion		g.chrX:19947930G>A	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.2079C>T	X.37:g.19947930G>A						CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Intron|CXorf23_uc004czo.2_Silent_p.F643F	p.F664F	NM_198279	NP_938020	A2AJT9	CX023_HUMAN			10	1992	-			693					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Silent	SNP	ENST00000379682.4	37	c.1992C>T																																																																																					0.333	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2		NM_198279		76	17	0	0	0	0.048971	0	76	17		
DGKK	139189	broad.mit.edu	37	X	50121635	50121635	+	RNA	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:50121635C>A	ENST00000376025.2	-	0	2976							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.G769C(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGCACAGAACCAAAGATTGCC	0.537																																						uc010njr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|kidney(1)	2						c.(2917-2919)GGT>TGT		diacylglycerol kinase kappa							110.0	99.0	103.0					X																	50121635		2070	4177	6247			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50121635C>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50121635C>A							p.G973C	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			21	2977	-	Ovarian(276;0.236)		973					B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.2917G>T																																																																																					0.537	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1		NM_001013742		3	2	1	0	6.4e-05	0.004672	6.49529e-05	3	2		
MAGED2	10916	broad.mit.edu	37	X	54841756	54841756	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:54841756G>T	ENST00000375068.1	+	12	1695	c.1462G>T	c.(1462-1464)Gag>Tag	p.E488*	MAGED2_ENST00000375058.1_Nonsense_Mutation_p.E488*|MAGED2_ENST00000218439.4_Nonsense_Mutation_p.E488*|MAGED2_ENST00000375062.4_Nonsense_Mutation_p.E403*|MAGED2_ENST00000396224.1_Nonsense_Mutation_p.E488*|MAGED2_ENST00000375053.2_Nonsense_Mutation_p.E488*|MAGED2_ENST00000347546.4_Nonsense_Mutation_p.E470*|MAGED2_ENST00000375060.1_Nonsense_Mutation_p.E403*|SNORA11_ENST00000408789.1_RNA			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	488						membrane (GO:0016020)		p.E488*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ggctgcagctgaggctgcagc	0.557																																						uc004dtk.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(1462-1464)GAG>TAG		melanoma antigen family D, 2							26.0	28.0	27.0					X																	54841756		2201	4291	6492	SO:0001587	stop_gained	10916							g.chrX:54841756G>T	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1462G>T	X.37:g.54841756G>T	ENSP00000364209:p.Glu488*					MAGED2_uc004dtl.1_Nonsense_Mutation_p.E488*|MAGED2_uc004dtm.1_Nonsense_Mutation_p.E403*|MAGED2_uc010nkc.1_Intron|MAGED2_uc004dtn.1_Nonsense_Mutation_p.E488*|MAGED2_uc004dto.1_Nonsense_Mutation_p.E462*	p.E488*	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN			12	1556	+			488					A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Nonsense_Mutation	SNP	ENST00000375068.1	37	c.1462G>T	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	G	36	5.718295	0.96839	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	.	.	.	4.2	4.2	0.49525	.	0.000000	0.46145	D	0.000301	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	12.9346	0.58307	0.0:0.0:1.0:0.0	.	.	.	.	X	488;488;432;470;403;488;488;403;488	.	ENSP00000218439:E488X	E	+	1	0	MAGED2	54858481	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.693000	0.61753	2.098000	0.63641	0.513000	0.50165	GAG		0.557	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2		NM_014599		36	11	1	0	9.62906e-15	0.086207	1.01241e-14	36	11		
ZC4H2	55906	broad.mit.edu	37	X	64139077	64139077	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:64139077C>T	ENST00000374839.3	-	4	512	c.406G>A	c.(406-408)Gag>Aag	p.E136K	ZC4H2_ENST00000545618.1_Missense_Mutation_p.E131K|ZC4H2_ENST00000337990.2_Missense_Mutation_p.E113K|ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000488608.1_5'UTR	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	136					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)	p.E136K(1)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TTCTGCTTCTCAAAGTAACTT	0.532													C|||	1	0.000264901	0.0	0.0	3775	,	,		14254	0.0		0.0	False		,,,				2504	0.001					uc004dvu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(406-408)GAG>AAG		zinc finger, C4H2 domain containing							56.0	46.0	50.0					X																	64139077		2203	4300	6503	SO:0001583	missense	55906						metal ion binding|protein binding	g.chrX:64139077C>T	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.406G>A	X.37:g.64139077C>T	ENSP00000363972:p.Glu136Lys					ZC4H2_uc004dvv.2_Missense_Mutation_p.E113K|ZC4H2_uc011mov.1_Missense_Mutation_p.E113K|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR	p.E136K	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN			4	494	-			136					B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	c.406G>A	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772573	0.90108	.	.	ENSG00000126970	ENST00000545618;ENST00000374839;ENST00000337990	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	L	0.50333	1.59	0.80722	D	1	D	0.55605	0.972	P	0.51945	0.685	T	0.60984	-0.7154	9	0.35671	T	0.21	.	15.7218	0.77718	0.0:1.0:0.0:0.0	.	136	Q9NQZ6	ZC4H2_HUMAN	K	131;136;113	.	ENSP00000338650:E113K	E	-	1	0	ZC4H2	64055802	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.552000	0.82192	2.397000	0.81536	0.597000	0.82753	GAG		0.532	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1		NM_018684		22	9	0	0	0	0.069288	0	22	9		
PCDH19	57526	broad.mit.edu	37	X	99663458	99663458	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:99663458C>T	ENST00000373034.4	-	1	1813	c.138G>A	c.(136-138)gcG>gcA	p.A46A	PCDH19_ENST00000420881.2_Silent_p.A46A|PCDH19_ENST00000255531.7_Silent_p.A46A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	46	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A46A(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCGCCTCTCGCGCGTCTTTGG	0.632																																						uc010nmz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(136-138)GCG>GCA		protocadherin 19 isoform b							11.0	12.0	12.0					X																	99663458		1971	4103	6074	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99663458C>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.138G>A	X.37:g.99663458C>T						PCDH19_uc004efw.3_Silent_p.A46A|PCDH19_uc004efx.3_Silent_p.A46A	p.A46A	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	1814	-			46			Cadherin 1.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.138G>A	CCDS55462.1																																																																																				0.632	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2		NM_020766		8	8	0	0	0	0.058154	0	8	8		
TBC1D8B	54885	broad.mit.edu	37	X	106082551	106082551	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:106082551C>T	ENST00000357242.5	+	8	1391	c.1217C>T	c.(1216-1218)tCt>tTt	p.S406F	TBC1D8B_ENST00000276175.3_Intron|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.S406F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	406							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.S406F(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTATTAGTTCTGAGTCTACA	0.348																																						uc004emo.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1216-1218)TCT>TTT		TBC1 domain family, member 8B (with GRAM domain)							141.0	133.0	136.0					X																	106082551		2203	4299	6502	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106082551C>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1217C>T	X.37:g.106082551C>T	ENSP00000349781:p.Ser406Phe					MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Missense_Mutation_p.S406F	p.S406F	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			8	1382	+			406					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.1217C>T	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.289166	0.23478	.	.	ENSG00000133138	ENST00000357242;ENST00000310452	T;T	0.15834	2.98;2.39	5.45	4.56	0.56223	.	0.645982	0.15880	N	0.240110	T	0.18923	0.0454	L	0.57536	1.79	0.80722	D	1	B;B	0.29886	0.087;0.26	B;B	0.29598	0.046;0.104	T	0.01853	-1.1260	10	0.54805	T	0.06	-1.3374	9.6711	0.40013	0.0:0.8946:0.0:0.1054	.	406;406	Q0IIM8;B9A6K6	TBC8B_HUMAN;.	F	406	ENSP00000349781:S406F;ENSP00000310675:S406F	ENSP00000310675:S406F	S	+	2	0	TBC1D8B	105969207	1.000000	0.71417	0.992000	0.48379	0.463000	0.32649	2.340000	0.43974	0.991000	0.38814	0.513000	0.50165	TCT		0.348	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2		NM_017752		18	22	0	0	0	0.049695	0	18	22		
ABCD1	215	broad.mit.edu	37	X	152991184	152991184	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:152991184G>A	ENST00000218104.3	+	1	862	c.463G>A	c.(463-465)Gag>Aag	p.E155K	BCAP31_ENST00000345046.6_5'Flank|BCAP31_ENST00000441714.1_5'Flank|ABCD1_ENST00000370129.4_5'Flank|BCAP31_ENST00000458587.2_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	155	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.E155K(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGTTACCTGGAGGGCCAACT	0.642																																						uc004fif.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(463-465)GAG>AAG		ATP-binding cassette, sub-family D (ALD), member							53.0	45.0	48.0					X																	152991184		2201	4300	6501	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:152991184G>A	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.463G>A	X.37:g.152991184G>A	ENSP00000218104:p.Glu155Lys					BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	p.E155K	NM_000033	NP_000024	P33897	ABCD1_HUMAN			1	862	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		155			ABC transmembrane type-1.|Interaction with PEX19.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.463G>A	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536251	0.85812	.	.	ENSG00000101986	ENST00000218104	D	0.99652	-6.3	5.44	5.44	0.79542	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99961	1.1734	10	0.20519	T	0.43	-37.7921	16.9941	0.86362	0.0:0.0:1.0:0.0	.	155	P33897	ABCD1_HUMAN	K	155	ENSP00000218104:E155K	ENSP00000218104:E155K	E	+	1	0	ABCD1	152644378	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	9.418000	0.97395	2.275000	0.75901	0.436000	0.28706	GAG		0.642	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1		NM_000033		31	7	0	0	0	0.041601	0	31	7		
TAS2R50	259296	broad.mit.edu	37	12	11139103	11139106	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:11139103_11139106delAAGA	ENST00000506868.1	-	1	405_408	c.354_357delTCTT	c.(352-357)tttcttfs	p.FL118fs	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	118					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TCTTTAAATGAAGAAAAAGAAGGT	0.392																																						uc001qzl.2		NaN																	0				ovary(2)	2						c.(352-357)TTTCTTfs		taste receptor, type 2, member 50																																				SO:0001589	frameshift_variant	259296				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11139103_11139106delAAGA	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.354_357delTCTT	12.37:g.11139103_11139106delAAGA	ENSP00000424040:p.Phe118fs					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.F118fs	NM_176890	NP_795371	P59544	T2R50_HUMAN			1	406_409	-			118_119			Cytoplasmic (Potential).		P59545|Q2M255|Q645Y0	Frame_Shift_Del	DEL	ENST00000506868.1	37	c.354_357delTCTT	CCDS8638.1																																																																																				0.392	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2		NM_176890		23	69	NaN	NaN	NaN	NaN	NaN	23	69	---	---
BAZ2A	11176	broad.mit.edu	37	12	57009177	57009178	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:57009177_57009178insC	ENST00000551812.1	-	3	549_550	c.356_357insG	c.(355-357)ggafs	p.G119fs	BAZ2A_ENST00000179765.5_Frame_Shift_Ins_p.G117fs|BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.G119fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.G117fs	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	119					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTGGGTATTGTCCCCCCGAGAA	0.584																																						uc001slq.1		NaN																	0					0						c.(355-357)GGAfs		bromodomain adjacent to zinc finger domain, 2A																																				SO:0001589	frameshift_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57009177_57009178insC	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.357dupG	12.37:g.57009183_57009183dupC	ENSP00000446880:p.Gly119fs					BAZ2A_uc001slp.1_Frame_Shift_Ins_p.G117fs|BAZ2A_uc010sqr.1_Frame_Shift_Ins_p.G119fs|BAZ2A_uc009zow.1_Frame_Shift_Ins_p.G117fs	p.G119fs	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN			3	550_551	-			119					B3KN66|O00536|O15030|Q68DI8|Q96H26	Frame_Shift_Ins	INS	ENST00000551812.1	37	c.356_357insG	CCDS44924.1																																																																																				0.584	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1		NM_013449		76	151	NaN	NaN	NaN	NaN	NaN	76	151	---	---
LLGL2	3993	broad.mit.edu	37	17	73569700	73569701	+	Frame_Shift_Ins	INS	-	-	G	rs371719084|rs112393371|rs200046748	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:73569700_73569701insG	ENST00000392550.3	+	21	2981_2982	c.2864_2865insG	c.(2863-2868)ccgagcfs	p.S956fs	LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.S956fs|LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.S956fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	956					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCCA	0.668																																						uc002joh.2		NaN																	0				ovary(2)	2						c.(2863-2865)CCGfs		lethal giant larvae homolog 2 isoform c																																				SO:0001589	frameshift_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73569700_73569701insG	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2865dupG	17.37:g.73569701_73569701dupG	ENSP00000376333:p.Ser956fs					LLGL2_uc002joi.2_Frame_Shift_Ins_p.P955fs|LLGL2_uc010dgg.1_Frame_Shift_Ins_p.P955fs|LLGL2_uc002joj.2_Frame_Shift_Ins_p.P944fs|LLGL2_uc010wsd.1_Frame_Shift_Ins_p.P582fs	p.P955fs	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		21	3018_3019	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		955					Q14521|Q9BR62	Frame_Shift_Ins	INS	ENST00000392550.3	37	c.2864_2865insG	CCDS32733.1																																																																																				0.668	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1		NM_004524		7	56	NaN	NaN	NaN	NaN	NaN	7	56	---	---
NEU2	4759	broad.mit.edu	37	2	233899698	233899698	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:233899698delT	ENST00000233840.3	+	2	1074	c.1074delT	c.(1072-1074)gatfs	p.D358fs		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	358					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	AAGCCAATGATTACGAGGAGA	0.577																																						uc010zmn.1		NaN																	0					0						c.(1072-1074)GATfs		neuraminidase 2							157.0	166.0	163.0					2																	233899698		2203	4300	6503	SO:0001589	frameshift_variant	4759						exo-alpha-sialidase activity	g.chr2:233899698delT	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.1074delT	2.37:g.233899698delT	ENSP00000233840:p.Asp358fs						p.D358fs	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	1074	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	358					Q3KNW4|Q6NTB4	Frame_Shift_Del	DEL	ENST00000233840.3	37	c.1074delT	CCDS2501.1																																																																																				0.577	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2		NM_005383		92	285	NaN	NaN	NaN	NaN	NaN	92	285	---	---
MMP24	10893	broad.mit.edu	37	20	33862215	33862216	+	Frame_Shift_Ins	INS	-	-	G	rs372291830|rs374634355		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:33862215_33862216insG	ENST00000246186.6	+	9	1826_1827	c.1741_1742insG	c.(1741-1743)cggfs	p.R581fs	MMP24-AS1_ENST00000435366.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000454184.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	581		Cleavage; by furin. {ECO:0000250}.			cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	GAAGGAGCGGCGGCTGCCCCAG	0.644																																						uc002xbu.2		NaN																	0					0						c.(1741-1743)CGGfs		matrix metalloproteinase 24 preproprotein																																				SO:0001589	frameshift_variant	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33862215_33862216insG	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.1743dupG	20.37:g.33862217_33862217dupG	ENSP00000246186:p.Arg581fs					EDEM2_uc010zuv.1_Intron	p.R581fs	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		9	1744_1745	+			581			Extracellular (Potential).		B7ZBG8|Q9H440	Frame_Shift_Ins	INS	ENST00000246186.6	37	c.1741_1742insG	CCDS46593.1																																																																																				0.644	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4		NM_006690		7	221	NaN	NaN	NaN	NaN	NaN	7	221	---	---
MYOT	9499	broad.mit.edu	37	5	137222941	137222941	+	Frame_Shift_Del	DEL	G	G	-	rs141801816	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:137222941delG	ENST00000239926.4	+	10	1738	c.1364delG	c.(1363-1365)cggfs	p.R455fs	RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Frame_Shift_Del_p.R340fs|PKD2L2_ENST00000508638.1_5'Flank|PKD2L2_ENST00000508883.1_5'Flank|PKD2L2_ENST00000290431.5_5'Flank|PKD2L2_ENST00000502810.1_5'Flank|PKD2L2_ENST00000350250.4_5'Flank|MYOT_ENST00000421631.2_Frame_Shift_Del_p.R271fs	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	455	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGCAGTTACGGGTTCGACCA	0.393																																						uc011cye.1		NaN																	0				large_intestine(1)	1						c.(1363-1365)CGGfs		myotilin isoform b							97.0	98.0	98.0					5																	137222941		2203	4300	6503	SO:0001589	frameshift_variant	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137222941delG	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.1364delG	5.37:g.137222941delG	ENSP00000239926:p.Arg455fs					PKD2L2_uc010jep.1_5'Flank|PKD2L2_uc003lbw.1_5'Flank|PKD2L2_uc003lbx.2_5'Flank|PKD2L2_uc003lby.2_5'Flank|MYOT_uc003lbv.2_Frame_Shift_Del_p.R455fs|MYOT_uc011cyg.1_Frame_Shift_Del_p.R271fs|MYOT_uc011cyh.1_Frame_Shift_Del_p.R340fs	p.R455fs	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		10	1381	+			455			Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Frame_Shift_Del	DEL	ENST00000239926.4	37	c.1364delG	CCDS4194.1																																																																																				0.393	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2		NM_006790		42	133	NaN	NaN	NaN	NaN	NaN	42	133	---	---
